Incidental Mutation 'R4597:Pcdha1'
| ID |
344478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha1
|
| Ensembl Gene |
ENSMUSG00000103442 |
| Gene Name |
protocadherin alpha 1 |
| Synonyms |
|
| MMRRC Submission |
041813-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4597 (G1)
|
| Quality Score |
196 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37063338-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 37064959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glycine
at position 541
(A541G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000193839]
|
| AlphaFold |
Q91Y21 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070797
AA Change: A541G
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
AA Change: A541G
| 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: ENSMUST00000192440
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193839
AA Change: A541G
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
AA Change: A541G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (67/70) |
| 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]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
T |
A |
2: 103,856,500 (GRCm39) |
|
probably benign |
Het |
| Aadacl2fm3 |
T |
A |
3: 59,784,214 (GRCm39) |
M229K |
possibly damaging |
Het |
| Adh5 |
T |
C |
3: 138,151,118 (GRCm39) |
V27A |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,781,800 (GRCm39) |
D843E |
probably damaging |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,268,737 (GRCm39) |
N950S |
probably damaging |
Het |
| Arl1 |
A |
T |
10: 88,566,608 (GRCm39) |
|
probably benign |
Het |
| Bcl3 |
T |
G |
7: 19,546,428 (GRCm39) |
I136L |
probably damaging |
Het |
| Car9 |
T |
A |
4: 43,509,138 (GRCm39) |
S235R |
probably damaging |
Het |
| Carnmt1 |
G |
T |
19: 18,648,451 (GRCm39) |
G30W |
probably damaging |
Het |
| Casp12 |
C |
T |
9: 5,348,941 (GRCm39) |
T101I |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,244,823 (GRCm39) |
L1026P |
probably damaging |
Het |
| Clec10a |
A |
T |
11: 70,060,806 (GRCm39) |
Y186F |
probably damaging |
Het |
| Col22a1 |
G |
T |
15: 71,836,511 (GRCm39) |
A508E |
possibly damaging |
Het |
| Crocc |
G |
C |
4: 140,747,088 (GRCm39) |
S1573R |
probably damaging |
Het |
| Cttnbp2nl |
G |
T |
3: 104,913,191 (GRCm39) |
T231K |
possibly damaging |
Het |
| Drd4 |
T |
C |
7: 140,874,392 (GRCm39) |
V319A |
probably damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,767,955 (GRCm39) |
E1116G |
possibly damaging |
Het |
| Fam83d |
T |
C |
2: 158,627,142 (GRCm39) |
V277A |
possibly damaging |
Het |
| Fga |
G |
T |
3: 82,938,542 (GRCm39) |
G306* |
probably null |
Het |
| Fkbp9 |
A |
G |
6: 56,809,367 (GRCm39) |
Y59C |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,274,441 (GRCm39) |
T450A |
probably benign |
Het |
| Gabbr1 |
A |
G |
17: 37,367,791 (GRCm39) |
M414V |
possibly damaging |
Het |
| Gm16506 |
A |
G |
14: 43,962,572 (GRCm39) |
F112L |
unknown |
Het |
| Gm27047 |
T |
C |
6: 130,607,299 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4353 |
T |
A |
7: 115,682,847 (GRCm39) |
K245* |
probably null |
Het |
| Gm4950 |
A |
T |
18: 51,998,865 (GRCm39) |
I30N |
probably benign |
Het |
| H1f5 |
A |
T |
13: 21,964,681 (GRCm39) |
V15E |
probably damaging |
Het |
| H2-M10.2 |
T |
C |
17: 36,596,285 (GRCm39) |
T187A |
probably benign |
Het |
| H60c |
A |
T |
10: 3,209,968 (GRCm39) |
N106K |
possibly damaging |
Het |
| Hoxa6 |
T |
C |
6: 52,185,387 (GRCm39) |
|
probably null |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,276 (GRCm39) |
C115R |
probably damaging |
Het |
| Il17a |
G |
A |
1: 20,801,217 (GRCm39) |
|
probably null |
Het |
| Itga9 |
T |
C |
9: 118,672,582 (GRCm39) |
Y199H |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,312,257 (GRCm39) |
R554C |
probably damaging |
Het |
| Kcnc3 |
T |
A |
7: 44,245,240 (GRCm39) |
M510K |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,822,914 (GRCm39) |
T432A |
probably benign |
Het |
| Kif26b |
A |
T |
1: 178,744,358 (GRCm39) |
S1485C |
probably damaging |
Het |
| Klhl2 |
C |
A |
8: 65,207,421 (GRCm39) |
G313W |
probably damaging |
Het |
| Klhl32 |
C |
T |
4: 24,629,339 (GRCm39) |
S476N |
probably benign |
Het |
| Krt1 |
C |
T |
15: 101,756,063 (GRCm39) |
E386K |
possibly damaging |
Het |
| Lats1 |
T |
C |
10: 7,567,510 (GRCm39) |
S94P |
probably benign |
Het |
| Ltf |
G |
A |
9: 110,852,001 (GRCm39) |
C146Y |
probably damaging |
Het |
| Mars1 |
A |
G |
10: 127,136,322 (GRCm39) |
L501P |
probably damaging |
Het |
| Myh2 |
A |
C |
11: 67,080,244 (GRCm39) |
I1153L |
probably benign |
Het |
| Ncstn |
A |
T |
1: 171,895,823 (GRCm39) |
Y522* |
probably null |
Het |
| Nipal4 |
A |
G |
11: 46,042,156 (GRCm39) |
V175A |
probably damaging |
Het |
| Or7e169 |
T |
C |
9: 19,756,987 (GRCm39) |
I309M |
probably benign |
Het |
| Pex11g |
A |
G |
8: 3,514,043 (GRCm39) |
Y40H |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,154 (GRCm39) |
Y496F |
possibly damaging |
Het |
| Qrfprl |
T |
C |
6: 65,424,408 (GRCm39) |
|
probably null |
Het |
| Rin2 |
G |
T |
2: 145,702,825 (GRCm39) |
R507L |
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,260,616 (GRCm39) |
D200G |
probably damaging |
Het |
| Smg7 |
C |
A |
1: 152,716,052 (GRCm39) |
|
probably null |
Het |
| Snx17 |
T |
C |
5: 31,355,857 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,741,255 (GRCm39) |
Y510C |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,427 (GRCm39) |
L323* |
probably null |
Het |
| Supt16 |
C |
T |
14: 52,411,046 (GRCm39) |
G686D |
probably damaging |
Het |
| Szt2 |
C |
T |
4: 118,229,878 (GRCm39) |
R2751H |
unknown |
Het |
| Tnfsf8 |
A |
G |
4: 63,755,337 (GRCm39) |
L95P |
probably damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,577,428 (GRCm39) |
H493R |
probably benign |
Het |
| Zfp770 |
C |
T |
2: 114,027,251 (GRCm39) |
A273T |
possibly damaging |
Het |
|
| Other mutations in Pcdha1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00714:Pcdha1
|
APN |
18 |
37,065,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0062:Pcdha1
|
UTSW |
18 |
37,139,681 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0108:Pcdha1
|
UTSW |
18 |
37,131,809 (GRCm39) |
missense |
probably benign |
|
|
R0543:Pcdha1
|
UTSW |
18 |
37,318,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Pcdha1
|
UTSW |
18 |
37,318,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Pcdha1
|
UTSW |
18 |
37,065,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2301:Pcdha1
|
UTSW |
18 |
37,289,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3038:Pcdha1
|
UTSW |
18 |
37,064,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3086:Pcdha1
|
UTSW |
18 |
37,064,001 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3693:Pcdha1
|
UTSW |
18 |
37,065,361 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3783:Pcdha1
|
UTSW |
18 |
37,063,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3881:Pcdha1
|
UTSW |
18 |
37,064,454 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4012:Pcdha1
|
UTSW |
18 |
37,064,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4540:Pcdha1
|
UTSW |
18 |
37,064,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Pcdha1
|
UTSW |
18 |
37,063,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4998:Pcdha1
|
UTSW |
18 |
37,065,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5466:Pcdha1
|
UTSW |
18 |
37,065,312 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5518:Pcdha1
|
UTSW |
18 |
37,065,415 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5673:Pcdha1
|
UTSW |
18 |
37,063,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5925:Pcdha1
|
UTSW |
18 |
37,063,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Pcdha1
|
UTSW |
18 |
37,063,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5963:Pcdha1
|
UTSW |
18 |
37,064,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6034:Pcdha1
|
UTSW |
18 |
37,063,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Pcdha1
|
UTSW |
18 |
37,063,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6107:Pcdha1
|
UTSW |
18 |
37,065,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6329:Pcdha1
|
UTSW |
18 |
37,065,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6479:Pcdha1
|
UTSW |
18 |
37,064,509 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6503:Pcdha1
|
UTSW |
18 |
37,064,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6907:Pcdha1
|
UTSW |
18 |
37,064,124 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7011:Pcdha1
|
UTSW |
18 |
37,063,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Pcdha1
|
UTSW |
18 |
37,292,326 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7314:Pcdha1
|
UTSW |
18 |
37,064,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7343:Pcdha1
|
UTSW |
18 |
37,063,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Pcdha1
|
UTSW |
18 |
37,064,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7700:Pcdha1
|
UTSW |
18 |
37,064,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7768:Pcdha1
|
UTSW |
18 |
37,065,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7780:Pcdha1
|
UTSW |
18 |
37,065,511 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7800:Pcdha1
|
UTSW |
18 |
37,064,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7917:Pcdha1
|
UTSW |
18 |
37,065,254 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8325:Pcdha1
|
UTSW |
18 |
37,063,867 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8699:Pcdha1
|
UTSW |
18 |
37,064,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9400:Pcdha1
|
UTSW |
18 |
37,064,760 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9513:Pcdha1
|
UTSW |
18 |
37,065,286 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9746:Pcdha1
|
UTSW |
18 |
37,065,713 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCACGGTGTCAGCGATG -3'
(R):5'- TTCATAGGACAGCCACGCATTG -3'
Sequencing Primer
(F):5'- CTATGTGTCTGTGCACG -3'
(R):5'- ACGCATTGTAGCCAGAGTC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation