Incidental Mutation 'R8472:Pcdha2'
| ID |
657103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha2
|
| Ensembl Gene |
ENSMUSG00000104148 |
| Gene Name |
protocadherin alpha 2 |
| Synonyms |
|
| MMRRC Submission |
067916-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R8472 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37072258-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37074325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 652
(D652G)
|
| 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 damaging
Transcript: ENSMUST00000115662
AA Change: D652G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148
AA Change: D652G
| 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 damaging
Transcript: ENSMUST00000195590
AA Change: D652G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148
AA Change: D652G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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 |
|---|
| 2900092C05Rik |
T |
A |
7: 12,246,568 (GRCm39) |
H21Q |
possibly damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,754,138 (GRCm39) |
S152P |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,833,608 (GRCm39) |
S222P |
probably damaging |
Het |
| Cdcp2 |
C |
T |
4: 106,959,981 (GRCm39) |
A132V |
probably damaging |
Het |
| Cnksr3 |
G |
T |
10: 7,084,532 (GRCm39) |
P71Q |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,247,057 (GRCm39) |
P185L |
probably damaging |
Het |
| Cpm |
T |
C |
10: 117,515,883 (GRCm39) |
V319A |
probably damaging |
Het |
| Ctxn2 |
A |
G |
2: 124,989,528 (GRCm39) |
I52V |
possibly damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,165,021 (GRCm39) |
H334L |
probably benign |
Het |
| Dab1 |
A |
G |
4: 104,336,439 (GRCm39) |
K12E |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 104,709,463 (GRCm39) |
D1815V |
probably benign |
Het |
| Emsy |
T |
C |
7: 98,304,037 (GRCm39) |
|
probably benign |
Het |
| Etv4 |
G |
T |
11: 101,674,827 (GRCm39) |
D56E |
probably damaging |
Het |
| Exoc3l2 |
C |
T |
7: 19,215,190 (GRCm39) |
R484* |
probably null |
Het |
| Extl1 |
A |
G |
4: 134,098,603 (GRCm39) |
C143R |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,286,563 (GRCm39) |
I987V |
possibly damaging |
Het |
| Fbn1 |
A |
C |
2: 125,151,722 (GRCm39) |
C2511G |
probably damaging |
Het |
| Fer |
T |
A |
17: 64,280,144 (GRCm39) |
S72T |
probably benign |
Het |
| Gdf2 |
A |
G |
14: 33,666,797 (GRCm39) |
D173G |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,284,176 (GRCm39) |
E222G |
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,218,410 (GRCm39) |
M819L |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,427,432 (GRCm39) |
R187* |
probably null |
Het |
| Heatr6 |
A |
G |
11: 83,656,679 (GRCm39) |
N314D |
probably benign |
Het |
| Hspd1 |
T |
C |
1: 55,117,505 (GRCm39) |
D555G |
probably benign |
Het |
| Ighv3-4 |
T |
C |
12: 114,217,649 (GRCm39) |
Y8C |
probably benign |
Het |
| Lcmt2 |
A |
G |
2: 120,970,729 (GRCm39) |
V118A |
probably damaging |
Het |
| Lmf2 |
T |
C |
15: 89,239,005 (GRCm39) |
E37G |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,346,795 (GRCm39) |
L1161P |
probably damaging |
Het |
| Mbip |
T |
A |
12: 56,377,054 (GRCm39) |
|
probably null |
Het |
| Mgam |
A |
T |
6: 40,671,460 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
G |
A |
6: 60,965,380 (GRCm39) |
S1136N |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,502,943 (GRCm39) |
V73A |
possibly damaging |
Het |
| Mtbp |
C |
T |
15: 55,449,748 (GRCm39) |
L24F |
probably damaging |
Het |
| Ncr1 |
T |
A |
7: 4,341,120 (GRCm39) |
I37N |
probably benign |
Het |
| Nkx3-1 |
A |
G |
14: 69,429,507 (GRCm39) |
N175S |
probably damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,342,145 (GRCm39) |
I500T |
possibly damaging |
Het |
| Or10a3 |
T |
A |
7: 108,479,973 (GRCm39) |
Q280L |
possibly damaging |
Het |
| Or1e1f |
C |
T |
11: 73,856,223 (GRCm39) |
S263L |
possibly damaging |
Het |
| Or6c33 |
A |
G |
10: 129,853,445 (GRCm39) |
T72A |
probably damaging |
Het |
| Pde6a |
T |
A |
18: 61,354,018 (GRCm39) |
N114K |
probably damaging |
Het |
| Pdp2 |
A |
G |
8: 105,320,913 (GRCm39) |
E254G |
probably benign |
Het |
| Pip5kl1 |
T |
C |
2: 32,470,018 (GRCm39) |
V241A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,469,400 (GRCm39) |
D168E |
probably damaging |
Het |
| Psg27 |
A |
T |
7: 18,296,015 (GRCm39) |
H143Q |
probably benign |
Het |
| Serpina16 |
T |
A |
12: 103,638,796 (GRCm39) |
I264F |
probably benign |
Het |
| Slc25a41 |
G |
A |
17: 57,348,582 (GRCm39) |
H4Y |
probably benign |
Het |
| Slco1a8 |
T |
G |
6: 141,949,115 (GRCm39) |
H87P |
probably damaging |
Het |
| Smc3 |
T |
G |
19: 53,617,142 (GRCm39) |
H518Q |
probably benign |
Het |
| Snrpb |
G |
T |
2: 130,015,042 (GRCm39) |
T158K |
probably damaging |
Het |
| Sobp |
A |
G |
10: 42,898,392 (GRCm39) |
F398L |
probably damaging |
Het |
| Spidr |
T |
A |
16: 15,958,591 (GRCm39) |
Q57L |
probably benign |
Het |
| Srd5a3 |
T |
G |
5: 76,297,648 (GRCm39) |
V26G |
possibly damaging |
Het |
| Stx17 |
A |
G |
4: 48,166,972 (GRCm39) |
T131A |
probably benign |
Het |
| Susd1 |
A |
G |
4: 59,332,985 (GRCm39) |
L553P |
possibly damaging |
Het |
| Tbc1d30 |
C |
A |
10: 121,187,009 (GRCm39) |
G59C |
probably benign |
Het |
| Tekt1 |
T |
C |
11: 72,242,850 (GRCm39) |
D219G |
possibly damaging |
Het |
| Trav9d-1 |
A |
T |
14: 53,030,163 (GRCm39) |
D89V |
possibly damaging |
Het |
| Trim34b |
T |
C |
7: 103,980,545 (GRCm39) |
I211T |
probably benign |
Het |
| Vmn1r25 |
A |
T |
6: 57,955,531 (GRCm39) |
L253M |
possibly damaging |
Het |
| Vmn1r56 |
C |
T |
7: 5,198,904 (GRCm39) |
V238M |
probably damaging |
Het |
| Wipf3 |
A |
G |
6: 54,466,070 (GRCm39) |
I443V |
probably benign |
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 |
|
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 |
|
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'- TCAGTGAGCGAGCTTGTAC -3'
(R):5'- TCTGCTGCGAGTATGACCAG -3'
Sequencing Primer
(F):5'- AGCGAGCTTGTACCTAGGTCAG -3'
(R):5'- TGGAGCACACCAGCATG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation