Incidental Mutation 'R7708:Pcdhga2'
| ID |
594425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga2
|
| Ensembl Gene |
ENSMUSG00000103332 |
| Gene Name |
protocadherin gamma subfamily A, 2 |
| Synonyms |
|
| MMRRC Submission |
045709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R7708 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37802006-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37804496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 780
(I780N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XY6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
2.15e-2 |
SMART |
|
CA
|
152 |
237 |
4.8e-13 |
SMART |
|
CA
|
261 |
342 |
9.36e-25 |
SMART |
|
CA
|
366 |
447 |
6.62e-25 |
SMART |
|
CA
|
471 |
557 |
6.72e-26 |
SMART |
|
CA
|
588 |
666 |
2.15e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.8e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
805 |
928 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193869
AA Change: I780N
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
AA Change: I780N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
1.64e-2 |
SMART |
|
CA
|
155 |
240 |
6.42e-23 |
SMART |
|
CA
|
264 |
345 |
1.76e-20 |
SMART |
|
CA
|
369 |
450 |
2.27e-23 |
SMART |
|
CA
|
474 |
560 |
1.5e-23 |
SMART |
|
CA
|
591 |
669 |
1.17e-16 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194190
|
| SMART Domains |
Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
3.16e-2 |
SMART |
|
CA
|
155 |
240 |
5.39e-16 |
SMART |
|
CA
|
264 |
345 |
6.72e-26 |
SMART |
|
CA
|
369 |
450 |
1.32e-24 |
SMART |
|
CA
|
474 |
560 |
4.17e-22 |
SMART |
|
CA
|
591 |
669 |
4.48e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (46/46) |
| 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 gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
A |
G |
3: 59,772,756 (GRCm39) |
S87G |
probably benign |
Het |
| Adam24 |
A |
G |
8: 41,133,558 (GRCm39) |
H342R |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Asap1 |
T |
C |
15: 64,024,721 (GRCm39) |
Y315C |
probably damaging |
Het |
| Atp10b |
C |
A |
11: 43,092,970 (GRCm39) |
T435K |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,505,051 (GRCm39) |
F480L |
probably benign |
Het |
| Bspry |
G |
T |
4: 62,414,337 (GRCm39) |
C310F |
probably benign |
Het |
| Camk2d |
A |
T |
3: 126,391,089 (GRCm39) |
M1L |
probably benign |
Het |
| Clock |
T |
A |
5: 76,414,256 (GRCm39) |
S19C |
probably benign |
Het |
| Cxxc1 |
G |
T |
18: 74,349,314 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
G |
C |
11: 104,855,397 (GRCm39) |
D3816H |
unknown |
Het |
| Ercc6l2 |
T |
A |
13: 63,989,328 (GRCm39) |
C176* |
probably null |
Het |
| Fkbp5 |
A |
G |
17: 28,657,071 (GRCm39) |
F49L |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,974,962 (GRCm39) |
D67V |
|
Het |
| Gpatch2 |
A |
G |
1: 186,964,963 (GRCm39) |
I297V |
probably benign |
Het |
| Gpr135 |
T |
G |
12: 72,116,733 (GRCm39) |
I345L |
probably benign |
Het |
| Gpr89 |
G |
A |
3: 96,787,941 (GRCm39) |
T271I |
possibly damaging |
Het |
| Hip1r |
T |
A |
5: 124,135,532 (GRCm39) |
S503T |
possibly damaging |
Het |
| Hivep1 |
T |
A |
13: 42,317,753 (GRCm39) |
C2076* |
probably null |
Het |
| Hoxa2 |
A |
G |
6: 52,141,542 (GRCm39) |
V28A |
probably damaging |
Het |
| Inf2 |
T |
C |
12: 112,573,991 (GRCm39) |
V765A |
unknown |
Het |
| Krt87 |
T |
C |
15: 101,385,813 (GRCm39) |
M261V |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,043,554 (GRCm39) |
Y166H |
probably damaging |
Het |
| Nuak2 |
T |
C |
1: 132,252,770 (GRCm39) |
M108T |
possibly damaging |
Het |
| Or4f52 |
T |
C |
2: 111,061,863 (GRCm39) |
I92V |
probably damaging |
Het |
| Or52e19 |
T |
C |
7: 102,959,768 (GRCm39) |
L280P |
probably damaging |
Het |
| Or5p80 |
C |
T |
7: 108,230,048 (GRCm39) |
P283L |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,300 (GRCm39) |
M94T |
probably damaging |
Het |
| Or8b1c |
A |
T |
9: 38,384,681 (GRCm39) |
T213S |
probably damaging |
Het |
| Or8s16 |
A |
T |
15: 98,211,029 (GRCm39) |
M134K |
probably damaging |
Het |
| Orm3 |
A |
T |
4: 63,276,050 (GRCm39) |
E154V |
probably damaging |
Het |
| Phf21a |
T |
C |
2: 92,157,511 (GRCm39) |
|
probably null |
Het |
| Polh |
G |
T |
17: 46,483,626 (GRCm39) |
D546E |
probably benign |
Het |
| Ptprr |
A |
G |
10: 115,998,502 (GRCm39) |
D204G |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Rpl7l1 |
A |
G |
17: 47,090,271 (GRCm39) |
V121A |
possibly damaging |
Het |
| Rreb1 |
A |
G |
13: 38,113,546 (GRCm39) |
T302A |
probably benign |
Het |
| Scn3a |
C |
T |
2: 65,313,512 (GRCm39) |
V1134I |
possibly damaging |
Het |
| Slc10a6 |
C |
T |
5: 103,777,128 (GRCm39) |
|
probably benign |
Het |
| Tmprss11f |
C |
T |
5: 86,672,028 (GRCm39) |
G388D |
probably damaging |
Het |
| Tnf |
A |
C |
17: 35,419,134 (GRCm39) |
V232G |
possibly damaging |
Het |
| Trappc13 |
C |
T |
13: 104,283,845 (GRCm39) |
G302D |
probably benign |
Het |
| Trbj1-7 |
T |
G |
6: 41,512,617 (GRCm39) |
Y14* |
probably null |
Het |
| Vmn1r217 |
T |
C |
13: 23,298,269 (GRCm39) |
H211R |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,061,755 (GRCm39) |
H73L |
possibly damaging |
Het |
| Zfp827 |
T |
C |
8: 79,902,591 (GRCm39) |
L835S |
probably damaging |
Het |
|
| Other mutations in Pcdhga2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4132:Pcdhga2
|
UTSW |
18 |
37,803,107 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4577:Pcdhga2
|
UTSW |
18 |
37,802,302 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4792:Pcdhga2
|
UTSW |
18 |
37,802,452 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4904:Pcdhga2
|
UTSW |
18 |
37,802,932 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4982:Pcdhga2
|
UTSW |
18 |
37,802,476 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5230:Pcdhga2
|
UTSW |
18 |
37,802,795 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5502:Pcdhga2
|
UTSW |
18 |
37,803,605 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6112:Pcdhga2
|
UTSW |
18 |
37,802,612 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6344:Pcdhga2
|
UTSW |
18 |
37,803,815 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6362:Pcdhga2
|
UTSW |
18 |
37,803,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6835:Pcdhga2
|
UTSW |
18 |
37,803,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Pcdhga2
|
UTSW |
18 |
37,803,638 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6927:Pcdhga2
|
UTSW |
18 |
37,803,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Pcdhga2
|
UTSW |
18 |
37,802,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Pcdhga2
|
UTSW |
18 |
37,803,461 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7657:Pcdhga2
|
UTSW |
18 |
37,803,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7720:Pcdhga2
|
UTSW |
18 |
37,802,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7899:Pcdhga2
|
UTSW |
18 |
37,803,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8416:Pcdhga2
|
UTSW |
18 |
37,803,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8528:Pcdhga2
|
UTSW |
18 |
37,802,221 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8744:Pcdhga2
|
UTSW |
18 |
37,804,373 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9043:Pcdhga2
|
UTSW |
18 |
37,802,963 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9189:Pcdhga2
|
UTSW |
18 |
37,802,795 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9197:Pcdhga2
|
UTSW |
18 |
37,804,553 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9404:Pcdhga2
|
UTSW |
18 |
37,803,067 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Pcdhga2
|
UTSW |
18 |
37,803,908 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGATGCTTCAGGCTTCAAGAG -3'
(R):5'- AGTTCACCTGGATGCACTTAAAC -3'
Sequencing Primer
(F):5'- CTTCAGGCTTCAAGAGATGGC -3'
(R):5'- ACCTGAGGGGTTTCTTCT -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation