Incidental Mutation 'R3937:Pcdha2'
| ID |
474731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha2
|
| Ensembl Gene |
ENSMUSG00000104148 |
| Gene Name |
protocadherin alpha 2 |
| Synonyms |
|
| MMRRC Submission |
040921-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R3937 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37072258-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37074376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 669
(V669A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115662]
[ENSMUST00000192503]
[ENSMUST00000193839]
[ENSMUST00000195590]
|
| AlphaFold |
Q91Y17 |
| 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 benign
Transcript: ENSMUST00000115662
AA Change: V669A
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148
AA Change: V669A
| 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: 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: ENSMUST00000195590
AA Change: V669A
PolyPhen 2
Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148
AA Change: V669A
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
G |
4: 148,026,510 (GRCm39) |
S343R |
possibly damaging |
Het |
| Abca8b |
G |
T |
11: 109,865,393 (GRCm39) |
P355T |
probably benign |
Het |
| Abhd15 |
T |
C |
11: 77,406,764 (GRCm39) |
V247A |
probably benign |
Het |
| Adamts1 |
C |
T |
16: 85,592,507 (GRCm39) |
V634M |
possibly damaging |
Het |
| BC049715 |
T |
C |
6: 136,817,453 (GRCm39) |
I231T |
possibly damaging |
Het |
| Chpf |
A |
T |
1: 75,454,184 (GRCm39) |
V198E |
probably damaging |
Het |
| Cp |
C |
T |
3: 20,025,198 (GRCm39) |
P386S |
probably damaging |
Het |
| Cth |
A |
G |
3: 157,625,677 (GRCm39) |
I107T |
possibly damaging |
Het |
| Ctrc |
T |
C |
4: 141,567,632 (GRCm39) |
D157G |
probably damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,042,280 (GRCm39) |
Y889H |
probably damaging |
Het |
| Elavl3 |
A |
G |
9: 21,930,040 (GRCm39) |
V288A |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,218,245 (GRCm39) |
I130K |
probably benign |
Het |
| F13a1 |
A |
T |
13: 37,100,875 (GRCm39) |
V423D |
probably damaging |
Het |
| Faf1 |
T |
C |
4: 109,614,889 (GRCm39) |
|
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,968,980 (GRCm39) |
D31E |
probably benign |
Het |
| Fastkd2 |
A |
G |
1: 63,776,995 (GRCm39) |
D377G |
possibly damaging |
Het |
| Fbxl6 |
G |
A |
15: 76,420,824 (GRCm39) |
R384* |
probably null |
Het |
| Fcamr |
A |
T |
1: 130,732,313 (GRCm39) |
H44L |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,223,818 (GRCm39) |
N1055D |
probably benign |
Het |
| Garem1 |
A |
T |
18: 21,281,863 (GRCm39) |
Y164* |
probably null |
Het |
| Gemin4 |
C |
T |
11: 76,103,714 (GRCm39) |
C349Y |
probably damaging |
Het |
| Gnal |
A |
G |
18: 67,268,441 (GRCm39) |
|
probably null |
Het |
| Hacl1 |
T |
C |
14: 31,356,148 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
T |
C |
4: 116,855,727 (GRCm39) |
V409A |
probably benign |
Het |
| Hps6 |
A |
G |
19: 45,992,492 (GRCm39) |
E143G |
probably damaging |
Het |
| Hspa4 |
T |
A |
11: 53,161,776 (GRCm39) |
I459L |
probably benign |
Het |
| Ighv3-6 |
G |
A |
12: 114,252,061 (GRCm39) |
Q21* |
probably null |
Het |
| Ints3 |
G |
A |
3: 90,311,294 (GRCm39) |
R438* |
probably null |
Het |
| Jmjd6 |
T |
C |
11: 116,731,991 (GRCm39) |
N237D |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,662,707 (GRCm39) |
T1912K |
probably damaging |
Het |
| Mdga2 |
C |
A |
12: 67,267,980 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,200,512 (GRCm39) |
D203G |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,849,108 (GRCm39) |
S1116P |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,607,357 (GRCm39) |
D704V |
probably benign |
Het |
| Nes |
A |
T |
3: 87,878,543 (GRCm39) |
M12L |
probably benign |
Het |
| Or10ak7 |
T |
C |
4: 118,791,880 (GRCm39) |
D53G |
probably damaging |
Het |
| Or10al2 |
A |
G |
17: 37,983,858 (GRCm39) |
T315A |
probably benign |
Het |
| Or2f1 |
T |
A |
6: 42,721,010 (GRCm39) |
I13N |
probably damaging |
Het |
| Or5j3 |
T |
A |
2: 86,128,360 (GRCm39) |
S67T |
probably damaging |
Het |
| Pdhx |
T |
C |
2: 102,852,564 (GRCm39) |
N433S |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,469,124 (GRCm39) |
R261G |
probably damaging |
Het |
| Plekhj1 |
A |
G |
10: 80,633,609 (GRCm39) |
I76T |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,073 (GRCm39) |
S614T |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,501,615 (GRCm39) |
N1207S |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,312,294 (GRCm39) |
F1005L |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,301,241 (GRCm39) |
E324G |
probably damaging |
Het |
| Sema6d |
A |
T |
2: 124,498,770 (GRCm39) |
I227L |
probably benign |
Het |
| Smarcad1 |
T |
G |
6: 65,091,320 (GRCm39) |
L1014V |
probably damaging |
Het |
| Spag9 |
T |
G |
11: 93,935,305 (GRCm39) |
S39A |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,935,243 (GRCm39) |
V18A |
possibly damaging |
Het |
| Sun2 |
T |
C |
15: 79,618,356 (GRCm39) |
K268E |
probably benign |
Het |
| Tbpl2 |
C |
T |
2: 23,977,151 (GRCm39) |
R289Q |
probably benign |
Het |
| Tcea3 |
T |
A |
4: 135,982,454 (GRCm39) |
|
probably benign |
Het |
| Tmem185a |
C |
T |
X: 69,505,792 (GRCm39) |
|
probably null |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Vmn1r212 |
A |
T |
13: 23,067,358 (GRCm39) |
V325E |
unknown |
Het |
| Vmn1r35 |
T |
A |
6: 66,656,057 (GRCm39) |
R204S |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,077,554 (GRCm39) |
M204T |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,092,105 (GRCm39) |
Y411* |
probably null |
Het |
| Zfp335 |
G |
T |
2: 164,752,620 (GRCm39) |
D41E |
probably damaging |
Het |
|
| Other mutations in Pcdha2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03052:Pcdha2
|
UTSW |
18 |
37,074,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3157:Pcdha2
|
UTSW |
18 |
37,073,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3159:Pcdha2
|
UTSW |
18 |
37,074,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Pcdha2
|
UTSW |
18 |
37,074,744 (GRCm39) |
nonsense |
probably null |
|
|
R3806:Pcdha2
|
UTSW |
18 |
37,072,582 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3815:Pcdha2
|
UTSW |
18 |
37,074,748 (GRCm39) |
missense |
probably benign |
|
|
R3816:Pcdha2
|
UTSW |
18 |
37,074,748 (GRCm39) |
missense |
probably benign |
|
|
R3970:Pcdha2
|
UTSW |
18 |
37,073,750 (GRCm39) |
nonsense |
probably null |
|
|
R4058:Pcdha2
|
UTSW |
18 |
37,072,935 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4059:Pcdha2
|
UTSW |
18 |
37,072,935 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4179:Pcdha2
|
UTSW |
18 |
37,074,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4457:Pcdha2
|
UTSW |
18 |
37,073,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Pcdha2
|
UTSW |
18 |
37,073,568 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4812:Pcdha2
|
UTSW |
18 |
37,072,861 (GRCm39) |
missense |
probably benign |
|
|
R4884:Pcdha2
|
UTSW |
18 |
37,073,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5130:Pcdha2
|
UTSW |
18 |
37,073,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Pcdha2
|
UTSW |
18 |
37,073,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5442:Pcdha2
|
UTSW |
18 |
37,072,915 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5460:Pcdha2
|
UTSW |
18 |
37,072,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Pcdha2
|
UTSW |
18 |
37,072,562 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5946:Pcdha2
|
UTSW |
18 |
37,074,159 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6054:Pcdha2
|
UTSW |
18 |
37,073,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Pcdha2
|
UTSW |
18 |
37,072,438 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7465:Pcdha2
|
UTSW |
18 |
37,073,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7542:Pcdha2
|
UTSW |
18 |
37,073,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7774:Pcdha2
|
UTSW |
18 |
37,074,579 (GRCm39) |
missense |
probably benign |
|
|
R7953:Pcdha2
|
UTSW |
18 |
37,072,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8043:Pcdha2
|
UTSW |
18 |
37,072,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8048:Pcdha2
|
UTSW |
18 |
37,072,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Pcdha2
|
UTSW |
18 |
37,073,316 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8414:Pcdha2
|
UTSW |
18 |
37,074,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8472:Pcdha2
|
UTSW |
18 |
37,074,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Pcdha2
|
UTSW |
18 |
37,073,428 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8999:Pcdha2
|
UTSW |
18 |
37,073,428 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9197:Pcdha2
|
UTSW |
18 |
37,072,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Pcdha2
|
UTSW |
18 |
37,073,546 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9781:Pcdha2
|
UTSW |
18 |
37,074,102 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1088:Pcdha2
|
UTSW |
18 |
37,074,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation