Incidental Mutation 'R4751:Pcdha11'
| ID |
357645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha11
|
| Ensembl Gene |
ENSMUSG00000102206 |
| Gene Name |
protocadherin alpha 11 |
| Synonyms |
A830022B16Rik, Cnr7, Crnr7 |
| MMRRC Submission |
041970-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R4751 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37143911-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37139997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 542
(G542D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000194544]
[ENSMUST00000193389]
[ENSMUST00000193777]
[ENSMUST00000192503]
[ENSMUST00000193839]
[ENSMUST00000192512]
[ENSMUST00000192168]
[ENSMUST00000192631]
[ENSMUST00000192295]
[ENSMUST00000194038]
[ENSMUST00000192447]
[ENSMUST00000194751]
[ENSMUST00000195590]
|
| AlphaFold |
Q91Y19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070797
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
22 |
132 |
3.09e-2 |
SMART |
|
CA
|
156 |
241 |
6.14e-20 |
SMART |
|
CA
|
265 |
349 |
3.92e-27 |
SMART |
|
CA
|
373 |
454 |
4.94e-24 |
SMART |
|
CA
|
478 |
564 |
1e-24 |
SMART |
|
CA
|
592 |
672 |
4.55e-14 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
797 |
931 |
5.3e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097612
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115657
|
| SMART Domains |
Protein: ENSMUSP00000111321
Gene: ENSMUSG00000102206
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.95e-2 |
SMART |
|
CA
|
155 |
240 |
7.44e-19 |
SMART |
|
CA
|
264 |
347 |
5.63e-28 |
SMART |
|
CA
|
371 |
452 |
3.14e-26 |
SMART |
|
CA
|
476 |
562 |
1.42e-24 |
SMART |
|
CA
|
593 |
675 |
1.03e-12 |
SMART |
|
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
918 |
942 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115658
AA Change: G542D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440
AA Change: G542D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
|
CA
|
46 |
132 |
6.34e-2 |
SMART |
|
CA
|
156 |
241 |
4.65e-20 |
SMART |
|
CA
|
265 |
349 |
1.25e-25 |
SMART |
|
CA
|
373 |
454 |
9.22e-24 |
SMART |
|
CA
|
478 |
564 |
4.3e-24 |
SMART |
|
CA
|
595 |
678 |
5.07e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
795 |
929 |
5.3e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115659
|
| SMART Domains |
Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
51 |
N/A |
INTRINSIC |
|
CA
|
75 |
161 |
2.46e-2 |
SMART |
|
CA
|
185 |
270 |
8.1e-20 |
SMART |
|
CA
|
294 |
378 |
1.69e-22 |
SMART |
|
CA
|
402 |
483 |
1.52e-24 |
SMART |
|
CA
|
507 |
593 |
5.68e-24 |
SMART |
|
CA
|
624 |
705 |
6.69e-12 |
SMART |
|
transmembrane domain
|
727 |
749 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
828 |
962 |
5.6e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115662
|
| SMART Domains |
Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
2.98e-18 |
SMART |
|
CA
|
264 |
348 |
2.17e-29 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
5.02e-25 |
SMART |
|
CA
|
594 |
675 |
8.16e-16 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
940 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194691
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194050
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193389
|
| SMART Domains |
Protein: ENSMUSP00000141459
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
5.67e-2 |
SMART |
|
CA
|
155 |
240 |
4.72e-21 |
SMART |
|
CA
|
264 |
348 |
1.9e-25 |
SMART |
|
CA
|
372 |
453 |
3.31e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
676 |
5.91e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193777
|
| SMART Domains |
Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
5.67e-2 |
SMART |
|
CA
|
155 |
240 |
4.72e-21 |
SMART |
|
CA
|
264 |
348 |
1.9e-25 |
SMART |
|
CA
|
372 |
453 |
3.31e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
676 |
5.91e-13 |
SMART |
|
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192503
|
| SMART Domains |
Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
17 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
3.78e-2 |
SMART |
|
CA
|
152 |
237 |
8.94e-22 |
SMART |
|
CA
|
261 |
345 |
3.74e-24 |
SMART |
|
CA
|
369 |
450 |
1.09e-25 |
SMART |
|
CA
|
474 |
560 |
1.42e-24 |
SMART |
|
CA
|
588 |
670 |
2.96e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
934 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193839
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
22 |
132 |
3.09e-2 |
SMART |
|
CA
|
156 |
241 |
6.14e-20 |
SMART |
|
CA
|
265 |
349 |
3.92e-27 |
SMART |
|
CA
|
373 |
454 |
4.94e-24 |
SMART |
|
CA
|
478 |
564 |
1e-24 |
SMART |
|
CA
|
592 |
672 |
4.55e-14 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192512
|
| SMART Domains |
Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192168
|
| SMART Domains |
Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.2e-2 |
SMART |
|
CA
|
155 |
240 |
2.05e-21 |
SMART |
|
CA
|
264 |
348 |
8.81e-21 |
SMART |
|
CA
|
372 |
453 |
2.01e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
591 |
673 |
1.63e-15 |
SMART |
|
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192631
|
| SMART Domains |
Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
2.58e-2 |
SMART |
|
CA
|
155 |
240 |
4.27e-19 |
SMART |
|
CA
|
264 |
348 |
1.42e-24 |
SMART |
|
CA
|
372 |
453 |
9.36e-25 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
671 |
4.03e-6 |
SMART |
|
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
929 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192295
|
| SMART Domains |
Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
568 |
5.38e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194038
|
| SMART Domains |
Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
4.27e-19 |
SMART |
|
CA
|
264 |
348 |
2.04e-25 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
9.88e-24 |
SMART |
|
CA
|
594 |
676 |
8.62e-15 |
SMART |
|
transmembrane domain
|
699 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192447
|
| SMART Domains |
Protein: ENSMUSP00000142270
Gene: ENSMUSG00000102206
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
21 |
131 |
1.5e-4 |
SMART |
|
CA
|
155 |
240 |
3.6e-21 |
SMART |
|
CA
|
264 |
347 |
2.8e-30 |
SMART |
|
CA
|
371 |
452 |
1.5e-28 |
SMART |
|
CA
|
476 |
562 |
6.8e-27 |
SMART |
|
CA
|
593 |
675 |
4.9e-15 |
SMART |
|
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194751
|
| SMART Domains |
Protein: ENSMUSP00000142285
Gene: ENSMUSG00000103707
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_2
|
29 |
112 |
4.5e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195590
|
| SMART Domains |
Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
6.34e-2 |
SMART |
|
CA
|
155 |
240 |
2.98e-18 |
SMART |
|
CA
|
264 |
348 |
2.17e-29 |
SMART |
|
CA
|
372 |
453 |
2.84e-24 |
SMART |
|
CA
|
477 |
563 |
5.02e-25 |
SMART |
|
CA
|
594 |
675 |
8.16e-16 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
95% (124/131) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 115 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
T |
7: 127,836,258 (GRCm39) |
C112S |
probably benign |
Het |
| Abca13 |
G |
A |
11: 9,227,973 (GRCm39) |
|
probably null |
Het |
| Abca14 |
A |
G |
7: 119,911,400 (GRCm39) |
E1328G |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,021,396 (GRCm39) |
I1105F |
probably benign |
Het |
| Abr |
T |
C |
11: 76,347,434 (GRCm39) |
N396D |
possibly damaging |
Het |
| Aftph |
A |
C |
11: 20,677,074 (GRCm39) |
C178W |
probably damaging |
Het |
| Akr1c14 |
T |
C |
13: 4,115,338 (GRCm39) |
F89S |
possibly damaging |
Het |
| Ank3 |
C |
T |
10: 69,822,036 (GRCm39) |
A1518V |
probably benign |
Het |
| Arfgap2 |
T |
G |
2: 91,097,713 (GRCm39) |
S143R |
probably benign |
Het |
| Aspdh |
T |
A |
7: 44,116,629 (GRCm39) |
C107* |
probably null |
Het |
| Asphd2 |
C |
A |
5: 112,539,612 (GRCm39) |
G74W |
probably damaging |
Het |
| AU040320 |
G |
A |
4: 126,748,259 (GRCm39) |
|
probably null |
Het |
| B3glct |
T |
A |
5: 149,648,867 (GRCm39) |
|
probably null |
Het |
| Bcl9l |
A |
G |
9: 44,418,100 (GRCm39) |
K646R |
probably damaging |
Het |
| Brat1 |
T |
G |
5: 140,704,051 (GRCm39) |
L768R |
probably damaging |
Het |
| Btbd18 |
T |
A |
2: 84,498,265 (GRCm39) |
Y634* |
probably null |
Het |
| Bub1 |
T |
A |
2: 127,665,858 (GRCm39) |
|
probably benign |
Het |
| Carns1 |
A |
T |
19: 4,216,417 (GRCm39) |
D588E |
probably damaging |
Het |
| Cast |
T |
C |
13: 74,894,166 (GRCm39) |
K141E |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
T |
C |
18: 59,308,872 (GRCm39) |
S42P |
possibly damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,710,609 (GRCm39) |
F865I |
possibly damaging |
Het |
| Clec4f |
T |
A |
6: 83,622,264 (GRCm39) |
M526L |
possibly damaging |
Het |
| Clnk |
T |
C |
5: 38,878,256 (GRCm39) |
E301G |
probably benign |
Het |
| Colgalt2 |
T |
A |
1: 152,365,627 (GRCm39) |
I309N |
probably benign |
Het |
| Cyp2e1 |
A |
T |
7: 140,354,629 (GRCm39) |
K326* |
probably null |
Het |
| Dagla |
T |
A |
19: 10,227,758 (GRCm39) |
T717S |
probably benign |
Het |
| Dnajc11 |
G |
A |
4: 152,052,999 (GRCm39) |
R141H |
probably benign |
Het |
| Dst |
A |
G |
1: 34,230,965 (GRCm39) |
K2853E |
probably benign |
Het |
| Eif4g1 |
A |
G |
16: 20,505,265 (GRCm39) |
K1208E |
possibly damaging |
Het |
| Elane |
A |
G |
10: 79,722,625 (GRCm39) |
R48G |
probably benign |
Het |
| Fbxo30 |
T |
A |
10: 11,165,939 (GRCm39) |
N220K |
probably benign |
Het |
| Fbxo33 |
A |
T |
12: 59,247,714 (GRCm39) |
|
probably benign |
Het |
| Fetub |
G |
A |
16: 22,756,645 (GRCm39) |
V169I |
probably benign |
Het |
| Gpx6 |
A |
C |
13: 21,501,234 (GRCm39) |
Q107H |
probably damaging |
Het |
| H2bc18 |
A |
T |
3: 96,176,467 (GRCm39) |
|
probably benign |
Het |
| Homer3 |
A |
T |
8: 70,738,084 (GRCm39) |
I19F |
probably damaging |
Het |
| Hspa4 |
C |
T |
11: 53,175,026 (GRCm39) |
V144I |
probably benign |
Het |
| Icos |
C |
T |
1: 61,032,876 (GRCm39) |
S25L |
probably benign |
Het |
| Ifna4 |
A |
G |
4: 88,760,185 (GRCm39) |
T30A |
probably benign |
Het |
| Ino80b |
C |
T |
6: 83,101,731 (GRCm39) |
G46D |
probably damaging |
Het |
| Kpna2 |
T |
G |
11: 106,883,490 (GRCm39) |
I100L |
possibly damaging |
Het |
| Krt71 |
C |
T |
15: 101,643,901 (GRCm39) |
G446R |
probably damaging |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,402 (GRCm39) |
N78S |
possibly damaging |
Het |
| Lman1 |
A |
G |
18: 66,131,505 (GRCm39) |
S132P |
probably benign |
Het |
| Lmna |
T |
C |
3: 88,393,840 (GRCm39) |
Q246R |
possibly damaging |
Het |
| Lrp10 |
T |
A |
14: 54,706,049 (GRCm39) |
V413E |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,365,443 (GRCm39) |
I1541S |
probably benign |
Het |
| Med24 |
A |
G |
11: 98,597,258 (GRCm39) |
L874P |
probably damaging |
Het |
| Mgll |
T |
A |
6: 88,702,093 (GRCm39) |
|
probably benign |
Het |
| Mrpl37 |
A |
T |
4: 106,914,672 (GRCm39) |
L364Q |
probably damaging |
Het |
| Mrpl47 |
C |
T |
3: 32,782,590 (GRCm39) |
R209H |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,371,338 (GRCm39) |
F3285L |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,699,539 (GRCm39) |
R301G |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,555,726 (GRCm39) |
L8P |
unknown |
Het |
| Ncf1 |
T |
A |
5: 134,258,399 (GRCm39) |
H8L |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,911,823 (GRCm39) |
M1383K |
possibly damaging |
Het |
| Necab2 |
C |
T |
8: 120,194,337 (GRCm39) |
S271L |
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,859,808 (GRCm39) |
|
probably null |
Het |
| Nsrp1 |
T |
G |
11: 76,967,545 (GRCm39) |
T16P |
possibly damaging |
Het |
| Obox3 |
A |
T |
7: 15,359,617 (GRCm39) |
|
probably null |
Het |
| Or1l8 |
T |
C |
2: 36,817,595 (GRCm39) |
H177R |
probably damaging |
Het |
| Or4c108 |
A |
G |
2: 88,803,477 (GRCm39) |
C253R |
probably damaging |
Het |
| Or4c15 |
T |
A |
2: 88,760,258 (GRCm39) |
I134F |
probably damaging |
Het |
| Or4d6 |
T |
A |
19: 12,086,541 (GRCm39) |
Y123F |
probably damaging |
Het |
| Or52n2b |
A |
T |
7: 104,565,617 (GRCm39) |
Y295* |
probably null |
Het |
| Or6b2 |
C |
A |
1: 92,407,705 (GRCm39) |
A213S |
probably benign |
Het |
| Osbpl3 |
C |
G |
6: 50,277,977 (GRCm39) |
E790Q |
possibly damaging |
Het |
| Osmr |
A |
T |
15: 6,872,333 (GRCm39) |
W254R |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,732,147 (GRCm39) |
|
probably benign |
Het |
| Pagr1a |
A |
T |
7: 126,614,551 (GRCm39) |
L218H |
probably damaging |
Het |
| Pck2 |
T |
A |
14: 55,780,018 (GRCm39) |
I54N |
probably damaging |
Het |
| Ppif |
T |
C |
14: 25,699,923 (GRCm39) |
V173A |
probably damaging |
Het |
| Ptgs2 |
T |
A |
1: 149,979,771 (GRCm39) |
L292H |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,529,897 (GRCm39) |
S604P |
probably damaging |
Het |
| Qrfpr |
T |
C |
3: 36,236,771 (GRCm39) |
H210R |
possibly damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,792,171 (GRCm39) |
T41A |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,894,919 (GRCm39) |
H1113R |
probably damaging |
Het |
| Rhoc |
T |
A |
3: 104,699,963 (GRCm39) |
I80N |
probably damaging |
Het |
| Riok3 |
A |
G |
18: 12,287,040 (GRCm39) |
N472S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,336,571 (GRCm39) |
Y3314C |
probably benign |
Het |
| Shank2 |
C |
T |
7: 143,963,205 (GRCm39) |
T264I |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,387,968 (GRCm39) |
I65V |
probably benign |
Het |
| Slc22a19 |
T |
C |
19: 7,668,510 (GRCm39) |
K291R |
possibly damaging |
Het |
| Slc22a20 |
T |
C |
19: 6,030,488 (GRCm39) |
I315V |
probably benign |
Het |
| Slc44a1 |
A |
T |
4: 53,560,973 (GRCm39) |
D563V |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,698,463 (GRCm39) |
H1104Q |
probably benign |
Het |
| Spcs2 |
A |
T |
7: 99,493,976 (GRCm39) |
|
probably null |
Het |
| Speer1e |
T |
A |
5: 11,236,458 (GRCm39) |
Y138N |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,673,884 (GRCm39) |
E301G |
probably benign |
Het |
| Stum |
T |
C |
1: 180,270,234 (GRCm39) |
D86G |
probably damaging |
Het |
| Sufu |
A |
T |
19: 46,472,088 (GRCm39) |
D449V |
probably benign |
Het |
| Sun5 |
T |
C |
2: 153,707,936 (GRCm39) |
|
probably null |
Het |
| Tbc1d15 |
T |
A |
10: 115,038,492 (GRCm39) |
I574F |
probably damaging |
Het |
| Tert |
G |
A |
13: 73,776,182 (GRCm39) |
S311N |
possibly damaging |
Het |
| Tiparp |
T |
C |
3: 65,460,225 (GRCm39) |
Y507H |
probably damaging |
Het |
| Tnk2 |
T |
C |
16: 32,498,675 (GRCm39) |
C158R |
probably damaging |
Het |
| Tpgs1 |
T |
C |
10: 79,511,454 (GRCm39) |
S199P |
possibly damaging |
Het |
| Trdmt1 |
G |
T |
2: 13,549,464 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
T |
A |
2: 121,058,290 (GRCm39) |
D944V |
probably damaging |
Het |
| Tsc1 |
T |
A |
2: 28,569,093 (GRCm39) |
I720N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,539,949 (GRCm39) |
T34346A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,727,925 (GRCm39) |
|
probably benign |
Het |
| Uba7 |
T |
A |
9: 107,857,004 (GRCm39) |
C686S |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,582,284 (GRCm39) |
F3782L |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,970,235 (GRCm39) |
H745Q |
possibly damaging |
Het |
| Vgf |
T |
A |
5: 137,061,255 (GRCm39) |
D472E |
probably damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,434,620 (GRCm39) |
M695V |
probably benign |
Het |
| Vps41 |
A |
T |
13: 18,995,792 (GRCm39) |
D208V |
probably damaging |
Het |
| Vta1 |
C |
T |
10: 14,531,560 (GRCm39) |
A272T |
probably benign |
Het |
| Wnk4 |
G |
A |
11: 101,167,188 (GRCm39) |
|
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,493,807 (GRCm39) |
K412R |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,934 (GRCm39) |
F65L |
possibly damaging |
Het |
| Zfp956 |
T |
C |
6: 47,940,510 (GRCm39) |
S290P |
probably benign |
Het |
|
| Other mutations in Pcdha11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01522:Pcdha11
|
APN |
18 |
37,318,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01843:Pcdha11
|
APN |
18 |
37,145,886 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1165:Pcdha11
|
UTSW |
18 |
37,140,757 (GRCm39) |
intron |
probably benign |
|
|
R2422:Pcdha11
|
UTSW |
18 |
37,140,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2423:Pcdha11
|
UTSW |
18 |
37,140,477 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2508:Pcdha11
|
UTSW |
18 |
37,145,907 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3114:Pcdha11
|
UTSW |
18 |
37,144,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4173:Pcdha11
|
UTSW |
18 |
37,145,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4255:Pcdha11
|
UTSW |
18 |
37,145,843 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4369:Pcdha11
|
UTSW |
18 |
37,139,796 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4454:Pcdha11
|
UTSW |
18 |
37,140,426 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4489:Pcdha11
|
UTSW |
18 |
37,139,969 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4626:Pcdha11
|
UTSW |
18 |
37,140,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Pcdha11
|
UTSW |
18 |
37,138,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Pcdha11
|
UTSW |
18 |
37,138,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Pcdha11
|
UTSW |
18 |
37,144,505 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4995:Pcdha11
|
UTSW |
18 |
37,144,080 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5042:Pcdha11
|
UTSW |
18 |
37,144,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5480:Pcdha11
|
UTSW |
18 |
37,138,935 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5495:Pcdha11
|
UTSW |
18 |
37,144,079 (GRCm39) |
missense |
probably benign |
|
|
R5523:Pcdha11
|
UTSW |
18 |
37,145,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5584:Pcdha11
|
UTSW |
18 |
37,139,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Pcdha11
|
UTSW |
18 |
37,144,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5834:Pcdha11
|
UTSW |
18 |
37,145,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5842:Pcdha11
|
UTSW |
18 |
37,144,337 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5859:Pcdha11
|
UTSW |
18 |
37,140,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6110:Pcdha11
|
UTSW |
18 |
37,144,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Pcdha11
|
UTSW |
18 |
37,138,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6248:Pcdha11
|
UTSW |
18 |
37,138,950 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6416:Pcdha11
|
UTSW |
18 |
37,145,222 (GRCm39) |
splice site |
probably null |
|
|
R6450:Pcdha11
|
UTSW |
18 |
37,146,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6594:Pcdha11
|
UTSW |
18 |
37,144,235 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6631:Pcdha11
|
UTSW |
18 |
37,138,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6883:Pcdha11
|
UTSW |
18 |
37,144,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Pcdha11
|
UTSW |
18 |
37,138,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7129:Pcdha11
|
UTSW |
18 |
37,140,291 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7153:Pcdha11
|
UTSW |
18 |
37,144,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7244:Pcdha11
|
UTSW |
18 |
37,144,421 (GRCm39) |
nonsense |
probably null |
|
|
R7295:Pcdha11
|
UTSW |
18 |
37,139,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7319:Pcdha11
|
UTSW |
18 |
37,146,245 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7352:Pcdha11
|
UTSW |
18 |
37,139,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7516:Pcdha11
|
UTSW |
18 |
37,144,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7519:Pcdha11
|
UTSW |
18 |
37,139,319 (GRCm39) |
nonsense |
probably null |
|
|
R7660:Pcdha11
|
UTSW |
18 |
37,138,904 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7677:Pcdha11
|
UTSW |
18 |
37,144,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7707:Pcdha11
|
UTSW |
18 |
37,144,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7775:Pcdha11
|
UTSW |
18 |
37,145,733 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7778:Pcdha11
|
UTSW |
18 |
37,145,733 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7780:Pcdha11
|
UTSW |
18 |
37,145,849 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7916:Pcdha11
|
UTSW |
18 |
37,140,441 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7991:Pcdha11
|
UTSW |
18 |
37,145,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8068:Pcdha11
|
UTSW |
18 |
37,138,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8220:Pcdha11
|
UTSW |
18 |
37,139,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8252:Pcdha11
|
UTSW |
18 |
37,140,590 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8392:Pcdha11
|
UTSW |
18 |
37,139,212 (GRCm39) |
nonsense |
probably null |
|
|
R8398:Pcdha11
|
UTSW |
18 |
37,146,116 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8470:Pcdha11
|
UTSW |
18 |
37,145,937 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8812:Pcdha11
|
UTSW |
18 |
37,140,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8900:Pcdha11
|
UTSW |
18 |
37,145,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8968:Pcdha11
|
UTSW |
18 |
37,145,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9065:Pcdha11
|
UTSW |
18 |
37,139,877 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9192:Pcdha11
|
UTSW |
18 |
37,140,527 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9224:Pcdha11
|
UTSW |
18 |
37,139,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9228:Pcdha11
|
UTSW |
18 |
37,144,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9237:Pcdha11
|
UTSW |
18 |
37,145,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Pcdha11
|
UTSW |
18 |
37,144,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9449:Pcdha11
|
UTSW |
18 |
37,145,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9475:Pcdha11
|
UTSW |
18 |
37,140,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9476:Pcdha11
|
UTSW |
18 |
37,139,532 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9510:Pcdha11
|
UTSW |
18 |
37,139,532 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9578:Pcdha11
|
UTSW |
18 |
37,140,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9654:Pcdha11
|
UTSW |
18 |
37,145,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF017:Pcdha11
|
UTSW |
18 |
37,138,577 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1177:Pcdha11
|
UTSW |
18 |
37,145,976 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTCTTCACAGTATTGGCG -3'
(R):5'- CCAAGCATTGTAACCAGAGTCC -3'
Sequencing Primer
(F):5'- CTTCACAGTATTGGCGATGGAC -3'
(R):5'- TGTAACCAGAGTCCGCATCTACTG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation