Incidental Mutation 'R5963:Pcdha1'
| ID |
471912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha1
|
| Ensembl Gene |
ENSMUSG00000103442 |
| Gene Name |
protocadherin alpha 1 |
| Synonyms |
|
| MMRRC Submission |
044148-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5963 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37063338-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37064224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 296
(V296E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000193839]
|
| AlphaFold |
Q91Y21 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070797
AA Change: V296E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442
AA Change: V296E
| 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 |
probably damaging
Transcript: ENSMUST00000193839
AA Change: V296E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442
AA Change: V296E
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.5%
|
| Validation Efficiency |
99% (68/69) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg8 |
A |
G |
7: 97,029,037 (GRCm39) |
K131E |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,823,056 (GRCm39) |
L575* |
probably null |
Het |
| Aqr |
T |
C |
2: 113,957,442 (GRCm39) |
T819A |
probably damaging |
Het |
| Bbs2 |
A |
T |
8: 94,807,659 (GRCm39) |
S407T |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,286,889 (GRCm39) |
C272S |
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,553,192 (GRCm39) |
|
probably null |
Het |
| C5ar1 |
A |
G |
7: 15,982,747 (GRCm39) |
V91A |
possibly damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,411,579 (GRCm39) |
H649R |
possibly damaging |
Het |
| Cfap43 |
A |
T |
19: 47,734,013 (GRCm39) |
V1451E |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,231,511 (GRCm39) |
M901L |
probably damaging |
Het |
| Cherp |
G |
T |
8: 73,215,379 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
C |
T |
2: 104,078,630 (GRCm39) |
V1229I |
possibly damaging |
Het |
| Fat4 |
A |
C |
3: 39,064,696 (GRCm39) |
D4884A |
probably damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,351,480 (GRCm39) |
F243L |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,262,487 (GRCm39) |
I776F |
probably benign |
Het |
| Gpr87 |
T |
A |
3: 59,086,690 (GRCm39) |
R272* |
probably null |
Het |
| Gsdmc |
A |
T |
15: 63,651,965 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
A |
8: 111,220,926 (GRCm39) |
F1441I |
possibly damaging |
Het |
| Ints11 |
T |
A |
4: 155,957,369 (GRCm39) |
C63* |
probably null |
Het |
| Kdm4b |
A |
T |
17: 56,706,732 (GRCm39) |
T908S |
probably damaging |
Het |
| Lipn |
A |
G |
19: 34,058,700 (GRCm39) |
D304G |
probably damaging |
Het |
| Man2a1 |
T |
G |
17: 64,982,117 (GRCm39) |
N544K |
probably benign |
Het |
| Mapkapk5 |
G |
T |
5: 121,676,544 (GRCm39) |
H66N |
probably damaging |
Het |
| Mog |
G |
A |
17: 37,323,240 (GRCm39) |
R233* |
probably null |
Het |
| Mrps24 |
A |
T |
11: 5,657,481 (GRCm39) |
|
probably benign |
Het |
| Nom1 |
T |
C |
5: 29,642,768 (GRCm39) |
L423P |
probably damaging |
Het |
| Or51b6 |
T |
A |
7: 103,556,168 (GRCm39) |
V174E |
probably benign |
Het |
| Pdcd2 |
T |
C |
17: 15,746,656 (GRCm39) |
K168E |
possibly damaging |
Het |
| Pdcd2 |
G |
T |
17: 15,746,657 (GRCm39) |
H167Q |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,239,780 (GRCm39) |
V63D |
probably damaging |
Het |
| Pnn |
C |
T |
12: 59,114,617 (GRCm39) |
R56* |
probably null |
Het |
| Primpol |
T |
A |
8: 47,046,615 (GRCm39) |
E227V |
possibly damaging |
Het |
| Rad54l |
A |
T |
4: 115,967,584 (GRCm39) |
W233R |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,300,578 (GRCm39) |
D103V |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,091,819 (GRCm39) |
S1511P |
probably benign |
Het |
| Septin5 |
T |
C |
16: 18,442,962 (GRCm39) |
|
probably null |
Het |
| Simc1 |
T |
A |
13: 54,673,632 (GRCm39) |
I660K |
possibly damaging |
Het |
| Slc15a5 |
A |
G |
6: 138,056,691 (GRCm39) |
L75P |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,721,196 (GRCm39) |
S55G |
possibly damaging |
Het |
| Slit3 |
C |
T |
11: 35,591,063 (GRCm39) |
R1292C |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,046 (GRCm39) |
V242A |
probably benign |
Het |
| St14 |
A |
T |
9: 31,017,853 (GRCm39) |
|
probably benign |
Het |
| Tnnt2 |
T |
C |
1: 135,771,600 (GRCm39) |
|
probably benign |
Het |
| Traf5 |
G |
A |
1: 191,731,977 (GRCm39) |
T288I |
probably benign |
Het |
| Trerf1 |
C |
T |
17: 47,625,263 (GRCm39) |
|
noncoding transcript |
Het |
| Vegfc |
A |
G |
8: 54,634,319 (GRCm39) |
N333D |
probably benign |
Het |
| Vmn1r65 |
T |
A |
7: 6,011,608 (GRCm39) |
I209F |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,118,320 (GRCm39) |
L725P |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,288,871 (GRCm39) |
I408T |
possibly damaging |
Het |
| Wdr72 |
T |
C |
9: 74,052,310 (GRCm39) |
Y114H |
probably damaging |
Het |
| Ybx2 |
A |
G |
11: 69,831,918 (GRCm39) |
E164G |
probably damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,355,362 (GRCm39) |
|
probably benign |
Het |
| Zfp383 |
A |
G |
7: 29,615,103 (GRCm39) |
T453A |
possibly damaging |
Het |
| Zfp84 |
G |
T |
7: 29,476,378 (GRCm39) |
G357C |
probably damaging |
Het |
| Zmynd11 |
G |
T |
13: 9,745,931 (GRCm39) |
|
probably benign |
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 |
|
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'- TTAATGACAACGCCCCACTG -3'
(R):5'- GGACACCTTGATGAGTGCGATG -3'
Sequencing Primer
(F):5'- TGTTTGACCAGGCCATCTACAGAG -3'
(R):5'- CAAGGATGTGATCGACAGCTCTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation