Incidental Mutation 'R9336:Pcdha11'
| ID |
707200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha11
|
| Ensembl Gene |
ENSMUSG00000102206 |
| Gene Name |
protocadherin alpha 11 |
| Synonyms |
A830022B16Rik, Cnr7, Crnr7 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R9336 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37143911-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37144514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 202
(R202W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115657]
[ENSMUST00000115658]
[ENSMUST00000115659]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192447]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000192631]
[ENSMUST00000193389]
[ENSMUST00000193777]
[ENSMUST00000193839]
[ENSMUST00000194038]
[ENSMUST00000194544]
[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 |
probably damaging
Transcript: ENSMUST00000115657
AA Change: R202W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111321
Gene: ENSMUSG00000102206
AA Change: R202W
| 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 benign
Transcript: ENSMUST00000115658
|
| SMART Domains |
Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440
| 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 |
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: 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 damaging
Transcript: ENSMUST00000192447
AA Change: R202W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142270
Gene: ENSMUSG00000102206
AA Change: R202W
| 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: 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: 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: 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: 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: ENSMUST00000193856
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| 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: 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
C |
T |
4: 148,029,490 (GRCm39) |
R487C |
probably benign |
Het |
| 2900026A02Rik |
A |
T |
5: 113,240,966 (GRCm39) |
|
probably null |
Het |
| Adamts15 |
T |
A |
9: 30,816,085 (GRCm39) |
T625S |
probably damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,240,264 (GRCm39) |
V675A |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,809,578 (GRCm39) |
T1120S |
probably benign |
Het |
| Armh3 |
A |
T |
19: 45,945,120 (GRCm39) |
M277K |
probably damaging |
Het |
| Babam2 |
A |
T |
5: 31,859,194 (GRCm39) |
M1L |
possibly damaging |
Het |
| Cadm3 |
G |
A |
1: 173,168,786 (GRCm39) |
Q261* |
probably null |
Het |
| Cdc27 |
A |
T |
11: 104,396,496 (GRCm39) |
D802E |
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,716,494 (GRCm39) |
V324I |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,242,807 (GRCm39) |
I737T |
probably damaging |
Het |
| Chrm3 |
A |
T |
13: 9,928,652 (GRCm39) |
I128N |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,554,189 (GRCm39) |
S743T |
probably benign |
Het |
| Ddias |
A |
G |
7: 92,507,314 (GRCm39) |
V867A |
possibly damaging |
Het |
| Ddx20 |
G |
C |
3: 105,585,903 (GRCm39) |
T814R |
possibly damaging |
Het |
| Dgka |
A |
T |
10: 128,566,935 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
T |
11: 65,761,775 (GRCm39) |
V3905E |
probably damaging |
Het |
| Dsg3 |
C |
A |
18: 20,657,742 (GRCm39) |
Q271K |
probably benign |
Het |
| Dvl2 |
T |
A |
11: 69,897,180 (GRCm39) |
I294N |
probably damaging |
Het |
| E2f3 |
G |
A |
13: 30,095,239 (GRCm39) |
H350Y |
possibly damaging |
Het |
| Eif2b5 |
G |
A |
16: 20,324,027 (GRCm39) |
D457N |
probably damaging |
Het |
| Erbb3 |
T |
C |
10: 128,420,929 (GRCm39) |
T125A |
probably benign |
Het |
| Etv5 |
A |
C |
16: 22,254,627 (GRCm39) |
C78G |
probably benign |
Het |
| Frrs1 |
G |
A |
3: 116,684,582 (GRCm39) |
R263H |
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Hivep3 |
A |
T |
4: 119,952,400 (GRCm39) |
I239F |
possibly damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,394 (GRCm39) |
T183I |
probably damaging |
Het |
| Ifitm2 |
AG |
A |
7: 140,535,814 (GRCm39) |
|
probably null |
Het |
| Igkv1-88 |
T |
A |
6: 68,839,313 (GRCm39) |
I100F |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,614,165 (GRCm39) |
N185S |
probably benign |
Het |
| Kmt2d |
A |
C |
15: 98,743,697 (GRCm39) |
L3821R |
unknown |
Het |
| Krtap22-2 |
T |
G |
16: 88,807,478 (GRCm39) |
Y40S |
unknown |
Het |
| Lrrc1 |
A |
G |
9: 77,349,480 (GRCm39) |
V362A |
probably damaging |
Het |
| Malsu1 |
T |
A |
6: 49,061,449 (GRCm39) |
I171N |
probably damaging |
Het |
| Mark1 |
C |
T |
1: 184,648,345 (GRCm39) |
G314S |
possibly damaging |
Het |
| Mib2 |
T |
C |
4: 155,743,394 (GRCm39) |
N135S |
probably benign |
Het |
| Mos |
A |
T |
4: 3,870,886 (GRCm39) |
L310Q |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,569,756 (GRCm39) |
T272I |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,771,064 (GRCm39) |
T1654A |
|
Het |
| Napsa |
G |
T |
7: 44,231,769 (GRCm39) |
G153W |
probably damaging |
Het |
| Nos3 |
A |
C |
5: 24,584,761 (GRCm39) |
I722L |
probably benign |
Het |
| Or10z1 |
A |
T |
1: 174,077,679 (GRCm39) |
D271E |
probably damaging |
Het |
| Or1p1c |
A |
T |
11: 74,160,743 (GRCm39) |
D176V |
probably damaging |
Het |
| Or51h1 |
A |
T |
7: 102,308,199 (GRCm39) |
H57L |
probably damaging |
Het |
| Or5b104 |
A |
T |
19: 13,072,513 (GRCm39) |
S166R |
probably benign |
Het |
| P4ha2 |
T |
A |
11: 54,002,390 (GRCm39) |
D109E |
possibly damaging |
Het |
| Pappa |
G |
T |
4: 65,042,918 (GRCm39) |
C47F |
unknown |
Het |
| Pbx3 |
T |
A |
2: 34,261,832 (GRCm39) |
H34L |
probably benign |
Het |
| Pcca |
A |
G |
14: 122,887,738 (GRCm39) |
T234A |
probably benign |
Het |
| Pcdhga1 |
T |
G |
18: 37,795,251 (GRCm39) |
V85G |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,726,562 (GRCm39) |
I1807V |
unknown |
Het |
| Pgm3 |
A |
T |
9: 86,437,413 (GRCm39) |
F528Y |
probably benign |
Het |
| Pigz |
T |
C |
16: 31,763,694 (GRCm39) |
Y251H |
probably damaging |
Het |
| Pik3c2g |
G |
T |
6: 139,821,161 (GRCm39) |
Q687H |
|
Het |
| Pja2 |
A |
T |
17: 64,590,432 (GRCm39) |
N700K |
unknown |
Het |
| Pkd2l2 |
T |
C |
18: 34,561,158 (GRCm39) |
F389L |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,985,446 (GRCm39) |
T32S |
possibly damaging |
Het |
| Pola2 |
A |
G |
19: 5,991,029 (GRCm39) |
V555A |
possibly damaging |
Het |
| Ppp4r3a |
A |
C |
12: 101,015,919 (GRCm39) |
C541G |
probably benign |
Het |
| Prr15l |
A |
T |
11: 96,825,599 (GRCm39) |
K76N |
probably damaging |
Het |
| Psg28 |
C |
A |
7: 18,156,905 (GRCm39) |
K443N |
possibly damaging |
Het |
| Ptch2 |
G |
T |
4: 116,954,197 (GRCm39) |
A76S |
probably damaging |
Het |
| Ptch2 |
A |
G |
4: 116,966,776 (GRCm39) |
D553G |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,000,855 (GRCm39) |
S982P |
probably benign |
Het |
| Rnd3 |
T |
C |
2: 51,038,844 (GRCm39) |
I15V |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,460,328 (GRCm39) |
K41E |
unknown |
Het |
| Sap25 |
T |
C |
5: 137,639,985 (GRCm39) |
S30P |
probably benign |
Het |
| Scfd2 |
A |
T |
5: 74,692,006 (GRCm39) |
I92N |
probably damaging |
Het |
| Sdr16c5 |
T |
C |
4: 4,016,108 (GRCm39) |
Y106C |
probably damaging |
Het |
| Sell |
T |
C |
1: 163,893,177 (GRCm39) |
I131T |
probably damaging |
Het |
| Sesn3 |
T |
A |
9: 14,225,850 (GRCm39) |
V195D |
probably damaging |
Het |
| Setdb2 |
A |
G |
14: 59,660,816 (GRCm39) |
V109A |
unknown |
Het |
| Skint2 |
T |
C |
4: 112,483,054 (GRCm39) |
I153T |
probably benign |
Het |
| Slc22a1 |
A |
G |
17: 12,886,142 (GRCm39) |
S164P |
probably damaging |
Het |
| Sowahc |
G |
A |
10: 59,058,305 (GRCm39) |
G147D |
probably benign |
Het |
| Strip2 |
G |
C |
6: 29,931,824 (GRCm39) |
G456R |
probably benign |
Het |
| Synpo |
G |
T |
18: 60,735,472 (GRCm39) |
R825S |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,415,701 (GRCm39) |
D174G |
probably benign |
Het |
| Tas1r2 |
T |
C |
4: 139,389,316 (GRCm39) |
F433S |
probably damaging |
Het |
| Tas2r126 |
T |
C |
6: 42,411,877 (GRCm39) |
S137P |
probably benign |
Het |
| Tbc1d15 |
A |
G |
10: 115,044,866 (GRCm39) |
F512S |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,870,115 (GRCm39) |
L226Q |
probably damaging |
Het |
| Tmod1 |
A |
G |
4: 46,078,368 (GRCm39) |
T59A |
probably damaging |
Het |
| Tmprss9 |
T |
A |
10: 80,730,787 (GRCm39) |
M771K |
probably benign |
Het |
| Trim29 |
T |
C |
9: 43,238,350 (GRCm39) |
Y485H |
possibly damaging |
Het |
| Ttc17 |
T |
C |
2: 94,189,198 (GRCm39) |
K144E |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,057,287 (GRCm39) |
Y562H |
probably benign |
Het |
| Ugt2b5 |
T |
C |
5: 87,285,130 (GRCm39) |
H269R |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,649,798 (GRCm39) |
F471L |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,832,201 (GRCm39) |
D196V |
possibly damaging |
Het |
| Wdr72 |
T |
C |
9: 74,117,292 (GRCm39) |
V680A |
probably damaging |
Het |
| Wee1 |
G |
A |
7: 109,721,689 (GRCm39) |
G45S |
probably damaging |
Het |
| Zfp1006 |
A |
T |
8: 129,944,149 (GRCm39) |
D91E |
unknown |
Het |
| Zfp518a |
G |
A |
19: 40,901,225 (GRCm39) |
V385I |
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 |
|
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 |
|
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'- GAGAACAAAGGCTGCTTATTTCTG -3'
(R):5'- TAGATCCGTGGCGTTCAACG -3'
Sequencing Primer
(F):5'- AGGCTGCTTATTTCTGAATCCAAGC -3'
(R):5'- TGGCGTTCAACGTTATGACAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation