Incidental Mutation 'R4626:Pcdha11'
| ID |
348810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha11
|
| Ensembl Gene |
ENSMUSG00000102206 |
| Gene Name |
protocadherin alpha 11 |
| Synonyms |
A830022B16Rik, Cnr7, Crnr7 |
| MMRRC Submission |
041891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R4626 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37143911-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37140051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 560
(N560I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192295]
[ENSMUST00000192512]
[ENSMUST00000192631]
[ENSMUST00000192168]
[ENSMUST00000193389]
[ENSMUST00000193839]
[ENSMUST00000192503]
[ENSMUST00000194038]
[ENSMUST00000194544]
[ENSMUST00000193777]
[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: N560I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440
AA Change: N560I
| 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: ENSMUST00000194050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194691
|
| 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
A |
C |
11: 84,313,784 (GRCm39) |
*527G |
probably null |
Het |
| Abca17 |
A |
T |
17: 24,540,058 (GRCm39) |
I390N |
probably damaging |
Het |
| Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
| Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ankrd49 |
A |
C |
9: 14,693,936 (GRCm39) |
L77R |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,540,586 (GRCm39) |
N169K |
possibly damaging |
Het |
| Arhgap39 |
A |
C |
15: 76,621,837 (GRCm39) |
F255V |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,698,193 (GRCm39) |
N171I |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,481,863 (GRCm39) |
D953G |
probably damaging |
Het |
| Atxn1 |
T |
C |
13: 45,720,575 (GRCm39) |
Y440C |
probably damaging |
Het |
| Bccip |
T |
C |
7: 133,322,457 (GRCm39) |
Y268H |
possibly damaging |
Het |
| Brms1l |
C |
A |
12: 55,909,958 (GRCm39) |
P243T |
probably benign |
Het |
| Btbd10 |
T |
C |
7: 112,927,605 (GRCm39) |
E250G |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,358,294 (GRCm39) |
|
probably null |
Het |
| Cfhr2 |
A |
T |
1: 139,741,314 (GRCm39) |
N220K |
probably damaging |
Het |
| Csnk1g2 |
C |
A |
10: 80,475,648 (GRCm39) |
A405E |
probably damaging |
Het |
| D5Ertd579e |
T |
C |
5: 36,771,903 (GRCm39) |
I831V |
possibly damaging |
Het |
| F2 |
T |
A |
2: 91,461,015 (GRCm39) |
N239I |
probably benign |
Het |
| Fbln5 |
T |
A |
12: 101,727,086 (GRCm39) |
D301V |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,146,819 (GRCm39) |
C2692* |
probably null |
Het |
| Fhdc1 |
C |
T |
3: 84,381,557 (GRCm39) |
D34N |
probably damaging |
Het |
| Galnt13 |
T |
A |
2: 54,747,878 (GRCm39) |
M253K |
probably damaging |
Het |
| Gpc6 |
C |
A |
14: 118,202,255 (GRCm39) |
Y488* |
probably null |
Het |
| Grm5 |
G |
T |
7: 87,779,361 (GRCm39) |
G934C |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,088,958 (GRCm39) |
L119S |
probably damaging |
Het |
| H2-T15 |
CTGGGTG |
CTG |
17: 36,368,788 (GRCm39) |
|
probably null |
Het |
| Htra4 |
T |
C |
8: 25,527,130 (GRCm39) |
N222D |
probably benign |
Het |
| Iba57 |
A |
G |
11: 59,049,287 (GRCm39) |
V294A |
probably benign |
Het |
| Kctd21 |
A |
G |
7: 96,996,782 (GRCm39) |
D85G |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lama5 |
G |
A |
2: 179,826,253 (GRCm39) |
T2330M |
probably damaging |
Het |
| Lrguk |
G |
A |
6: 34,106,158 (GRCm39) |
E728K |
probably benign |
Het |
| Mcm6 |
T |
C |
1: 128,279,285 (GRCm39) |
D167G |
probably benign |
Het |
| Mettl18 |
T |
A |
1: 163,824,045 (GRCm39) |
V122E |
probably damaging |
Het |
| Mindy2 |
G |
A |
9: 70,534,063 (GRCm39) |
S378L |
probably damaging |
Het |
| Mis18bp1 |
G |
T |
12: 65,187,540 (GRCm39) |
F854L |
probably damaging |
Het |
| Mtdh |
C |
T |
15: 34,114,980 (GRCm39) |
R106* |
probably null |
Het |
| Nup214 |
T |
A |
2: 31,923,416 (GRCm39) |
V1315E |
possibly damaging |
Het |
| Nup58 |
A |
G |
14: 60,476,004 (GRCm39) |
V271A |
probably benign |
Het |
| Or1j1 |
A |
G |
2: 36,702,271 (GRCm39) |
Y278H |
probably damaging |
Het |
| Or4c101 |
T |
C |
2: 88,390,176 (GRCm39) |
V121A |
possibly damaging |
Het |
| Or6f2 |
T |
C |
7: 139,756,359 (GRCm39) |
S109P |
probably damaging |
Het |
| Orc5 |
G |
T |
5: 22,753,003 (GRCm39) |
F10L |
probably benign |
Het |
| Pcdhb9 |
T |
A |
18: 37,535,302 (GRCm39) |
F432Y |
probably benign |
Het |
| Peg10 |
GGATCC |
GGATCCCCATCAAGATCC |
6: 4,756,460 (GRCm39) |
|
probably benign |
Het |
| Poll |
C |
A |
19: 45,543,563 (GRCm39) |
M385I |
probably benign |
Het |
| Pomt1 |
A |
G |
2: 32,144,424 (GRCm39) |
K737E |
possibly damaging |
Het |
| Prr16 |
C |
T |
18: 51,435,911 (GRCm39) |
T130I |
probably damaging |
Het |
| Ptpn18 |
A |
G |
1: 34,510,873 (GRCm39) |
|
probably null |
Het |
| Ranbp6 |
A |
T |
19: 29,788,263 (GRCm39) |
Y696* |
probably null |
Het |
| Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,460,571 (GRCm39) |
I1101T |
possibly damaging |
Het |
| Slc22a22 |
T |
C |
15: 57,126,734 (GRCm39) |
T93A |
probably damaging |
Het |
| Snx10 |
A |
G |
6: 51,565,270 (GRCm39) |
D129G |
probably damaging |
Het |
| Stub1 |
A |
G |
17: 26,050,845 (GRCm39) |
|
probably null |
Het |
| Tfr2 |
T |
C |
5: 137,569,954 (GRCm39) |
V120A |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,779,186 (GRCm39) |
Y278H |
possibly damaging |
Het |
| Ugt2b36 |
A |
C |
5: 87,239,947 (GRCm39) |
F146C |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,160,172 (GRCm39) |
I692V |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,091,800 (GRCm39) |
L513P |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,467,699 (GRCm39) |
V2619D |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,315,844 (GRCm39) |
N1211Y |
possibly damaging |
Het |
| Zp3r |
A |
G |
1: 130,542,912 (GRCm39) |
F142L |
probably damaging |
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 |
|
R4751:Pcdha11
|
UTSW |
18 |
37,139,997 (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'- AATGCGCTGGTGTCCTACTC -3'
(R):5'- TATAGTCCCACACGGAAGGGAC -3'
Sequencing Primer
(F):5'- TCCTACTCGCTGGTGGAG -3'
(R):5'- AAGGGACTGCGCACACTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation