Incidental Mutation 'R7465:Pcdha2'
| ID |
578731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha2
|
| Ensembl Gene |
ENSMUSG00000104148 |
| Gene Name |
protocadherin alpha 2 |
| Synonyms |
|
| MMRRC Submission |
045539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R7465 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37072258-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37073383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 338
(V338A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115662]
[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 damaging
Transcript: ENSMUST00000115662
AA Change: V338A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148
AA Change: V338A
| 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: 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 damaging
Transcript: ENSMUST00000195590
AA Change: V338A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148
AA Change: V338A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
T |
13: 30,565,964 (GRCm39) |
D343V |
probably benign |
Het |
| Anks1 |
G |
A |
17: 28,273,297 (GRCm39) |
R972Q |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,599,763 (GRCm39) |
K543E |
probably benign |
Het |
| Atp8b5 |
G |
A |
4: 43,271,269 (GRCm39) |
V4I |
probably benign |
Het |
| Bcar3 |
A |
T |
3: 122,316,879 (GRCm39) |
N617Y |
probably benign |
Het |
| Blm |
A |
G |
7: 80,162,863 (GRCm39) |
S163P |
probably benign |
Het |
| Cbx3 |
A |
G |
6: 51,455,510 (GRCm39) |
D87G |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,917,593 (GRCm39) |
S127P |
probably benign |
Het |
| Cndp1 |
A |
T |
18: 84,637,666 (GRCm39) |
M356K |
probably damaging |
Het |
| Cnn2 |
G |
A |
10: 79,828,361 (GRCm39) |
E113K |
probably damaging |
Het |
| Col17a1 |
T |
A |
19: 47,656,544 (GRCm39) |
R573* |
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,501,991 (GRCm39) |
E49V |
probably damaging |
Het |
| Dipk1a |
T |
C |
5: 108,057,550 (GRCm39) |
D336G |
probably damaging |
Het |
| Dynlrb2 |
T |
A |
8: 117,241,696 (GRCm39) |
V80E |
possibly damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,088,001 (GRCm39) |
V386A |
probably benign |
Het |
| Elfn1 |
C |
T |
5: 139,957,842 (GRCm39) |
P282L |
probably benign |
Het |
| Fan1 |
G |
A |
7: 64,003,386 (GRCm39) |
T812I |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,497,189 (GRCm39) |
V4225I |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,833,072 (GRCm39) |
C1873R |
probably benign |
Het |
| Fsd1l |
T |
C |
4: 53,647,755 (GRCm39) |
I66T |
probably benign |
Het |
| Gabrr1 |
C |
A |
4: 33,146,970 (GRCm39) |
D52E |
probably benign |
Het |
| Il18rap |
T |
C |
1: 40,582,249 (GRCm39) |
L390P |
probably damaging |
Het |
| Il27ra |
T |
A |
8: 84,766,241 (GRCm39) |
D181V |
probably benign |
Het |
| Irgq |
C |
A |
7: 24,233,834 (GRCm39) |
H558Q |
probably damaging |
Het |
| Itsn2 |
C |
T |
12: 4,756,983 (GRCm39) |
Q1358* |
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,507,847 (GRCm39) |
G3197S |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,651,543 (GRCm39) |
Y1733C |
probably damaging |
Het |
| Mapk7 |
G |
A |
11: 61,381,279 (GRCm39) |
A510V |
probably damaging |
Het |
| Mtch1 |
A |
T |
17: 29,551,698 (GRCm39) |
C385S |
probably benign |
Het |
| Nfib |
A |
G |
4: 82,271,758 (GRCm39) |
|
probably null |
Het |
| Nostrin |
C |
T |
2: 69,015,851 (GRCm39) |
T448M |
possibly damaging |
Het |
| Or12j4 |
T |
A |
7: 140,046,711 (GRCm39) |
V199D |
probably damaging |
Het |
| Or4c12b |
T |
C |
2: 89,646,880 (GRCm39) |
L64P |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,124 (GRCm39) |
Y272H |
probably benign |
Het |
| Or5a3 |
T |
A |
19: 12,400,509 (GRCm39) |
Y279N |
probably damaging |
Het |
| Or5an10 |
T |
C |
19: 12,275,801 (GRCm39) |
I232V |
probably benign |
Het |
| Or8k28 |
A |
G |
2: 86,286,150 (GRCm39) |
V155A |
probably benign |
Het |
| Pcdhgc3 |
A |
G |
18: 37,940,798 (GRCm39) |
T400A |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,145,794 (GRCm39) |
S2710N |
probably benign |
Het |
| Ppp4r1 |
T |
A |
17: 66,138,015 (GRCm39) |
Y591* |
probably null |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Rab42 |
T |
C |
4: 132,029,925 (GRCm39) |
E99G |
possibly damaging |
Het |
| Rd3l |
A |
T |
12: 111,945,916 (GRCm39) |
W188R |
probably damaging |
Het |
| Sap30bp |
A |
G |
11: 115,842,794 (GRCm39) |
D89G |
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,066,114 (GRCm39) |
T1985A |
probably benign |
Het |
| Tec |
T |
C |
5: 72,931,223 (GRCm39) |
Y247C |
probably damaging |
Het |
| Tek |
G |
A |
4: 94,716,063 (GRCm39) |
|
probably null |
Het |
| Tex14 |
T |
C |
11: 87,405,256 (GRCm39) |
S723P |
possibly damaging |
Het |
| Thumpd3 |
T |
A |
6: 113,024,592 (GRCm39) |
L62Q |
probably damaging |
Het |
| Tlr12 |
A |
T |
4: 128,509,963 (GRCm39) |
D762E |
probably damaging |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Txndc16 |
T |
A |
14: 45,402,845 (GRCm39) |
I316F |
probably damaging |
Het |
| Vamp1 |
T |
C |
6: 125,195,538 (GRCm39) |
S2P |
unknown |
Het |
| Vmn1r211 |
T |
A |
13: 23,036,086 (GRCm39) |
M194L |
probably benign |
Het |
| Zfp874a |
T |
A |
13: 67,590,376 (GRCm39) |
Q436L |
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 |
|
|
R3937:Pcdha2
|
UTSW |
18 |
37,074,376 (GRCm39) |
missense |
probably benign |
0.42 |
|
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 |
|
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 |
PCR Primer
(F):5'- TGCTTCTGATGCAGATGAAGGATC -3'
(R):5'- AGTGGACACCAGCTTGAAGG -3'
Sequencing Primer
(F):5'- ACAGCGAGATTGTGTATTCACTCG -3'
(R):5'- CACCAGCTTGAAGGGGACATG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation