Incidental Mutation 'R5755:Parvg'
| ID |
462623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parvg
|
| Ensembl Gene |
ENSMUSG00000022439 |
| Gene Name |
parvin, gamma |
| Synonyms |
|
| MMRRC Submission |
043202-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5755 (G1)
|
| Quality Score |
118 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
84208388-84227179 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 84215297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023074]
[ENSMUST00000125928]
[ENSMUST00000139235]
[ENSMUST00000145809]
[ENSMUST00000151072]
[ENSMUST00000163667]
|
| AlphaFold |
Q9ERD8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023074
|
| SMART Domains |
Protein: ENSMUSP00000023074
Gene: ENSMUSG00000022439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
47 |
151 |
5.5e-12 |
PFAM |
|
CH
|
212 |
315 |
2.14e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125928
|
| SMART Domains |
Protein: ENSMUSP00000115109
Gene: ENSMUSG00000022439
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CH
|
99 |
122 |
4e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127551
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139235
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151072
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163667
|
| SMART Domains |
Protein: ENSMUSP00000131443
Gene: ENSMUSG00000022439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
97 |
201 |
7.7e-11 |
PFAM |
|
CH
|
265 |
368 |
2.14e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM, Aug 2004]
PHENOTYPE: Homozygous null mice are viable and fertile with a normal life span and normal immune cell development and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,617,428 (GRCm39) |
F1042I |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,096 (GRCm39) |
T127A |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,023,575 (GRCm39) |
I233V |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,612,350 (GRCm39) |
|
probably null |
Het |
| Atp2b1 |
A |
G |
10: 98,839,032 (GRCm39) |
E39G |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,830,671 (GRCm39) |
|
probably null |
Het |
| Camsap2 |
C |
T |
1: 136,210,065 (GRCm39) |
G476R |
probably damaging |
Het |
| Cdk4 |
T |
A |
10: 126,900,591 (GRCm39) |
|
probably null |
Het |
| Dcaf12 |
T |
C |
4: 41,313,356 (GRCm39) |
Y63C |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,754,520 (GRCm39) |
S445T |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,127,214 (GRCm39) |
M109T |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,599,678 (GRCm39) |
E133G |
possibly damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,878 (GRCm39) |
F320L |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,657,773 (GRCm39) |
V801A |
possibly damaging |
Het |
| Gm57858 |
A |
T |
3: 36,071,842 (GRCm39) |
M501K |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,930,610 (GRCm39) |
N674Y |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,161 (GRCm39) |
E225G |
possibly damaging |
Het |
| Klhl11 |
T |
A |
11: 100,355,177 (GRCm39) |
M215L |
probably benign |
Het |
| Kmt2d |
G |
T |
15: 98,761,527 (GRCm39) |
P608T |
unknown |
Het |
| Map3k19 |
T |
C |
1: 127,750,118 (GRCm39) |
M1078V |
probably benign |
Het |
| Neto1 |
T |
C |
18: 86,517,219 (GRCm39) |
V512A |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,363,704 (GRCm39) |
D910G |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,557 (GRCm39) |
N84I |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,695 (GRCm39) |
I250K |
probably damaging |
Het |
| Pi4kb |
A |
T |
3: 94,901,608 (GRCm39) |
|
probably null |
Het |
| Plag1 |
T |
C |
4: 3,904,492 (GRCm39) |
K233R |
possibly damaging |
Het |
| Polr1h |
T |
A |
17: 37,269,049 (GRCm39) |
D43V |
probably benign |
Het |
| Rasgrp3 |
A |
C |
17: 75,831,940 (GRCm39) |
D587A |
probably benign |
Het |
| Slc7a10 |
A |
T |
7: 34,898,336 (GRCm39) |
I336F |
probably damaging |
Het |
| Snx8 |
T |
G |
5: 140,338,796 (GRCm39) |
E254A |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,768,725 (GRCm39) |
|
silent |
Het |
| Sp8 |
G |
T |
12: 118,812,822 (GRCm39) |
A226S |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,184,341 (GRCm39) |
Q628K |
probably benign |
Het |
| Styx |
C |
A |
14: 45,605,910 (GRCm39) |
T138K |
probably benign |
Het |
| Syngr3 |
A |
G |
17: 24,905,509 (GRCm39) |
F155S |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,187,406 (GRCm39) |
T3825A |
possibly damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,176,955 (GRCm39) |
T580S |
probably benign |
Het |
| Zbtb11 |
T |
A |
16: 55,821,076 (GRCm39) |
S724R |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,973,511 (GRCm39) |
S379P |
probably benign |
Het |
|
| Other mutations in Parvg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02455:Parvg
|
APN |
15 |
84,214,283 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
I2288:Parvg
|
UTSW |
15 |
84,212,981 (GRCm39) |
intron |
probably benign |
|
|
R0044:Parvg
|
UTSW |
15 |
84,222,083 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0044:Parvg
|
UTSW |
15 |
84,222,083 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0739:Parvg
|
UTSW |
15 |
84,215,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1498:Parvg
|
UTSW |
15 |
84,218,832 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1507:Parvg
|
UTSW |
15 |
84,214,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6453:Parvg
|
UTSW |
15 |
84,213,126 (GRCm39) |
missense |
probably null |
1.00 |
|
R6465:Parvg
|
UTSW |
15 |
84,213,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6539:Parvg
|
UTSW |
15 |
84,225,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Parvg
|
UTSW |
15 |
84,210,464 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7237:Parvg
|
UTSW |
15 |
84,225,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7261:Parvg
|
UTSW |
15 |
84,215,297 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7665:Parvg
|
UTSW |
15 |
84,222,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8792:Parvg
|
UTSW |
15 |
84,213,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8859:Parvg
|
UTSW |
15 |
84,222,001 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9562:Parvg
|
UTSW |
15 |
84,213,065 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9746:Parvg
|
UTSW |
15 |
84,210,424 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTACAGGTGTTAGTGGCC -3'
(R):5'- TATGCCCCAGGAACTATGGTGG -3'
Sequencing Primer
(F):5'- AGGTGTTAGTGGCCCCTCAG -3'
(R):5'- GCACACTGACCTCCCTACTAGTG -3'
|
| Posted On |
2017-03-01 |
Incidental Mutation