Incidental Mutation 'R4132:Pcdhga2'
| ID |
314715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga2
|
| Ensembl Gene |
ENSMUSG00000103332 |
| Gene Name |
protocadherin gamma subfamily A, 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R4132 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37802006-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37803107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 317
(I317T)
|
| 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: I317T
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
AA Change: I317T
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
T |
C |
1: 92,812,822 (GRCm39) |
M496V |
probably benign |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Cmklr1 |
C |
A |
5: 113,752,545 (GRCm39) |
R152L |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Gm1527 |
A |
T |
3: 28,974,779 (GRCm39) |
I531L |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,777,987 (GRCm39) |
S537P |
probably damaging |
Het |
| Icam5 |
T |
C |
9: 20,947,953 (GRCm39) |
I617T |
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klhdc4 |
C |
T |
8: 122,524,804 (GRCm39) |
G375R |
possibly damaging |
Het |
| Myo5c |
G |
A |
9: 75,159,850 (GRCm39) |
V293I |
probably benign |
Het |
| Ncbp1 |
C |
T |
4: 46,169,241 (GRCm39) |
R672* |
probably null |
Het |
| Safb |
C |
A |
17: 56,907,848 (GRCm39) |
|
probably benign |
Het |
| Tspan5 |
C |
T |
3: 138,602,628 (GRCm39) |
R106* |
probably null |
Het |
| Ubap2l |
A |
G |
3: 89,916,491 (GRCm39) |
Y908H |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,141,159 (GRCm39) |
N372S |
probably damaging |
Het |
| Vmn1r210 |
T |
C |
13: 23,011,819 (GRCm39) |
I156V |
probably benign |
Het |
| Zbtb8os |
A |
G |
4: 129,229,906 (GRCm39) |
Y24C |
probably damaging |
Het |
|
| Other mutations in Pcdhga2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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'- TTCCTGAAAATACGCCCGTAG -3'
(R):5'- GAACACGTGACGACAGCATTC -3'
Sequencing Primer
(F):5'- GTAGGCACCCGGATACTCACAG -3'
(R):5'- GACAGCATTCTGCCCAGAGTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation