Incidental Mutation 'R8416:Pcdhga2'
| ID |
652973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga2
|
| Ensembl Gene |
ENSMUSG00000103332 |
| Gene Name |
protocadherin gamma subfamily A, 2 |
| Synonyms |
|
| MMRRC Submission |
067770-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R8416 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37802006-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37803178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 341
(N341Y)
|
| 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 |
probably damaging
Transcript: ENSMUST00000193869
AA Change: N341Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
AA Change: N341Y
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,369,023 (GRCm39) |
N173S |
probably benign |
Het |
| Agps |
A |
G |
2: 75,684,547 (GRCm39) |
I172V |
probably benign |
Het |
| Amz1 |
G |
A |
5: 140,737,731 (GRCm39) |
W330* |
probably null |
Het |
| Asap1 |
A |
T |
15: 64,002,072 (GRCm39) |
M413K |
possibly damaging |
Het |
| Bhmt1b |
T |
C |
18: 87,774,687 (GRCm39) |
V70A |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,885,513 (GRCm39) |
W291R |
unknown |
Het |
| Cdh19 |
A |
T |
1: 110,853,610 (GRCm39) |
M277K |
probably benign |
Het |
| Clca3a1 |
C |
A |
3: 144,460,914 (GRCm39) |
|
probably null |
Het |
| Cnpy1 |
T |
C |
5: 28,408,423 (GRCm39) |
T138A |
probably benign |
Het |
| Csnka2ip |
T |
C |
16: 64,300,295 (GRCm39) |
D23G |
|
Het |
| Cxcr5 |
A |
T |
9: 44,425,583 (GRCm39) |
F25I |
probably benign |
Het |
| Defb33 |
T |
A |
8: 21,387,651 (GRCm39) |
*63R |
probably null |
Het |
| Dgkz |
A |
T |
2: 91,770,649 (GRCm39) |
S485T |
possibly damaging |
Het |
| Elac1 |
A |
G |
18: 73,871,927 (GRCm39) |
I356T |
probably damaging |
Het |
| Fam135a |
C |
T |
1: 24,067,675 (GRCm39) |
D1065N |
probably benign |
Het |
| Fbxo10 |
T |
A |
4: 45,058,942 (GRCm39) |
D265V |
possibly damaging |
Het |
| Flrt2 |
A |
G |
12: 95,746,331 (GRCm39) |
E223G |
probably benign |
Het |
| Gjc2 |
A |
T |
11: 59,068,334 (GRCm39) |
D49E |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Irf2 |
A |
T |
8: 47,271,887 (GRCm39) |
Y158F |
probably benign |
Het |
| Jmy |
T |
C |
13: 93,634,949 (GRCm39) |
D289G |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Limch1 |
T |
G |
5: 67,156,649 (GRCm39) |
I372S |
probably benign |
Het |
| Lsm11 |
A |
T |
11: 45,824,730 (GRCm39) |
W266R |
probably benign |
Het |
| Mboat2 |
G |
A |
12: 24,984,609 (GRCm39) |
E147K |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,852,210 (GRCm39) |
I439V |
probably benign |
Het |
| Npc2 |
A |
G |
12: 84,812,131 (GRCm39) |
V37A |
probably damaging |
Het |
| Or2t29 |
A |
T |
11: 58,433,778 (GRCm39) |
S188T |
possibly damaging |
Het |
| Or5b119 |
A |
T |
19: 13,456,764 (GRCm39) |
M266K |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,825,271 (GRCm39) |
|
probably null |
Het |
| Pde1b |
G |
A |
15: 103,423,745 (GRCm39) |
|
probably benign |
Het |
| Pde1c |
C |
T |
6: 56,128,276 (GRCm39) |
|
probably null |
Het |
| Plce1 |
G |
A |
19: 38,761,441 (GRCm39) |
V2098I |
possibly damaging |
Het |
| Pou2f2 |
G |
T |
7: 24,815,551 (GRCm39) |
S72* |
probably null |
Het |
| Ptpru |
C |
T |
4: 131,535,783 (GRCm39) |
R398H |
probably damaging |
Het |
| Rps15 |
A |
G |
10: 80,128,624 (GRCm39) |
K7E |
probably benign |
Het |
| Rtn4rl2 |
C |
T |
2: 84,702,951 (GRCm39) |
G207D |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,511,345 (GRCm39) |
L130F |
probably benign |
Het |
| Sh3tc1 |
G |
A |
5: 35,868,256 (GRCm39) |
R403W |
probably damaging |
Het |
| Slc7a9 |
A |
G |
7: 35,152,858 (GRCm39) |
K92R |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,399,062 (GRCm39) |
E142D |
probably benign |
Het |
| Srpk1 |
A |
G |
17: 28,813,229 (GRCm39) |
I505T |
probably damaging |
Het |
| Sult1c2 |
A |
T |
17: 54,269,580 (GRCm39) |
I216K |
probably benign |
Het |
| Susd6 |
T |
A |
12: 80,897,997 (GRCm39) |
M44K |
probably benign |
Het |
| Thoc5 |
T |
A |
11: 4,876,068 (GRCm39) |
V607E |
probably benign |
Het |
| Tiparp |
A |
G |
3: 65,438,767 (GRCm39) |
R28G |
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,540,116 (GRCm39) |
V1498I |
probably benign |
Het |
| Tmprss11c |
T |
G |
5: 86,387,276 (GRCm39) |
Q214P |
probably damaging |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Wdr11 |
G |
A |
7: 129,232,403 (GRCm39) |
S937N |
possibly damaging |
Het |
| Zdhhc23 |
A |
T |
16: 43,791,927 (GRCm39) |
I282K |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,693,052 (GRCm39) |
M37T |
probably benign |
Het |
| Zmpste24 |
T |
C |
4: 120,940,556 (GRCm39) |
S142G |
probably benign |
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 |
|
R7708:Pcdhga2
|
UTSW |
18 |
37,804,496 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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'- AGGGATACAATGCTCAAGTGAC -3'
(R):5'- AGTCGGTAGTAACTGTCCACC -3'
Sequencing Primer
(F):5'- ATTTTCAGGAGCATGACCCTG -3'
(R):5'- GGTAGTAACTGTCCACCGACCTTTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation