Incidental Mutation 'R8325:Pcdha1'
| ID |
644083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha1
|
| Ensembl Gene |
ENSMUSG00000103442 |
| Gene Name |
protocadherin alpha 1 |
| Synonyms |
|
| MMRRC Submission |
067857-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8325 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37063338-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37063867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 177
(D177V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000193839]
|
| AlphaFold |
Q91Y21 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070797
AA Change: D177V
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
AA Change: D177V
| 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: ENSMUST00000193839
AA Change: D177V
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
AA Change: D177V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
T |
C |
15: 89,453,954 (GRCm39) |
V97A |
probably benign |
Het |
| Agrn |
C |
T |
4: 156,258,119 (GRCm39) |
G1081D |
probably benign |
Het |
| Ang2 |
A |
G |
14: 51,432,960 (GRCm39) |
S141P |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,134,237 (GRCm39) |
|
probably null |
Het |
| Apba2 |
A |
T |
7: 64,345,730 (GRCm39) |
T307S |
probably benign |
Het |
| Cadm2 |
T |
A |
16: 66,612,338 (GRCm39) |
N84Y |
possibly damaging |
Het |
| Camsap1 |
T |
C |
2: 25,829,375 (GRCm39) |
D783G |
probably benign |
Het |
| Ccdc62 |
T |
C |
5: 124,092,448 (GRCm39) |
C478R |
probably benign |
Het |
| Cep290 |
A |
C |
10: 100,353,670 (GRCm39) |
H801P |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,310,629 (GRCm39) |
Y555* |
probably null |
Het |
| Cmas |
T |
C |
6: 142,717,065 (GRCm39) |
|
probably null |
Het |
| Cmtm7 |
T |
C |
9: 114,592,415 (GRCm39) |
I61V |
probably benign |
Het |
| Cyb5d2 |
A |
G |
11: 72,669,651 (GRCm39) |
S236P |
possibly damaging |
Het |
| Dcp1b |
C |
T |
6: 119,192,397 (GRCm39) |
Q438* |
probably null |
Het |
| Dgcr8 |
T |
C |
16: 18,076,149 (GRCm39) |
Q678R |
probably damaging |
Het |
| Emc1 |
T |
A |
4: 139,092,521 (GRCm39) |
M487K |
possibly damaging |
Het |
| Gm7361 |
T |
C |
5: 26,467,154 (GRCm39) |
S258P |
probably damaging |
Het |
| Hbs1l |
A |
G |
10: 21,183,548 (GRCm39) |
I96M |
probably benign |
Het |
| Ifi27l2a |
G |
A |
12: 103,409,144 (GRCm39) |
A49V |
unknown |
Het |
| Igkv10-96 |
T |
C |
6: 68,609,088 (GRCm39) |
Y69C |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,225,954 (GRCm39) |
V2573D |
probably damaging |
Het |
| Kcng3 |
T |
C |
17: 83,939,007 (GRCm39) |
N14S |
possibly damaging |
Het |
| Kif20a |
A |
G |
18: 34,759,975 (GRCm39) |
T94A |
possibly damaging |
Het |
| Lcp2 |
T |
A |
11: 34,032,394 (GRCm39) |
V324E |
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,224,379 (GRCm39) |
K481E |
probably benign |
Het |
| Met |
A |
G |
6: 17,571,671 (GRCm39) |
E1330G |
probably damaging |
Het |
| Mroh1 |
GCCCAGGCCCC |
GCC |
15: 76,316,415 (GRCm39) |
|
probably null |
Het |
| Mss51 |
T |
C |
14: 20,534,771 (GRCm39) |
D333G |
possibly damaging |
Het |
| Nav3 |
A |
G |
10: 109,541,464 (GRCm39) |
V1933A |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,338,796 (GRCm39) |
Y212C |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,521,608 (GRCm39) |
I104M |
probably benign |
Het |
| Npsr1 |
C |
T |
9: 24,198,118 (GRCm39) |
|
probably benign |
Het |
| Nt5e |
A |
G |
9: 88,245,615 (GRCm39) |
E295G |
probably benign |
Het |
| Or6b1 |
T |
C |
6: 42,815,124 (GRCm39) |
F103S |
probably damaging |
Het |
| Or9m1b |
A |
T |
2: 87,836,537 (GRCm39) |
L186Q |
probably damaging |
Het |
| Papss1 |
A |
G |
3: 131,288,372 (GRCm39) |
T136A |
probably benign |
Het |
| Pcolce2 |
A |
T |
9: 95,574,973 (GRCm39) |
S308C |
probably damaging |
Het |
| Pdhx |
G |
T |
2: 102,872,597 (GRCm39) |
P162T |
probably benign |
Het |
| Plin3 |
C |
T |
17: 56,593,268 (GRCm39) |
R98Q |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,262,982 (GRCm39) |
T895A |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,321,271 (GRCm39) |
N1243S |
|
Het |
| Serpinb1b |
A |
T |
13: 33,277,584 (GRCm39) |
K272N |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,575,982 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
T |
10: 5,096,257 (GRCm39) |
M739K |
probably benign |
Het |
| Tbc1d9 |
G |
A |
8: 83,966,667 (GRCm39) |
|
probably null |
Het |
| Trp53inp1 |
A |
G |
4: 11,164,561 (GRCm39) |
D35G |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,952,524 (GRCm39) |
V549A |
probably damaging |
Het |
| Usp18 |
T |
C |
6: 121,230,769 (GRCm39) |
L66S |
probably damaging |
Het |
| Vmn1r238 |
C |
T |
18: 3,122,529 (GRCm39) |
S295N |
probably benign |
Het |
| Vmn2r29 |
T |
C |
7: 7,244,941 (GRCm39) |
D311G |
probably damaging |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,625 (GRCm39) |
A764D |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,689,444 (GRCm39) |
I3031F |
|
Het |
| Wdr7 |
A |
G |
18: 63,911,535 (GRCm39) |
|
probably null |
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 |
|
R4597:Pcdha1
|
UTSW |
18 |
37,064,959 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
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 |
|
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'- TGCAGGTTTTCCACGTGGAG -3'
(R):5'- TAGATGGCCTGGTCAAACAGTG -3'
Sequencing Primer
(F):5'- TTCCACGTGGAGGTGAAGG -3'
(R):5'- GTTGTCATTAACATCGAGCACAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation