Incidental Mutation 'R9714:Parvb'
| ID |
730361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parvb
|
| Ensembl Gene |
ENSMUSG00000022438 |
| Gene Name |
parvin, beta |
| Synonyms |
D15Gsk1, affixin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9714 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
84116244-84199889 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 84167041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 119
(G119C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023072]
|
| AlphaFold |
Q9ES46 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023072
AA Change: G119C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023072
Gene: ENSMUSG00000022438
AA Change: G119C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
CH
|
90 |
190 |
3.46e-1 |
SMART |
|
low complexity region
|
204 |
211 |
N/A |
INTRINSIC |
|
CH
|
257 |
360 |
9.18e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Disruption of this marker has no apparent adverse consequences. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
C |
7: 120,030,383 (GRCm39) |
D165A |
probably benign |
Het |
| Abca3 |
T |
A |
17: 24,595,702 (GRCm39) |
C352S |
probably benign |
Het |
| AC157566.4 |
T |
C |
15: 76,418,354 (GRCm39) |
T52A |
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,010,230 (GRCm39) |
I381V |
probably benign |
Het |
| Col17a1 |
C |
T |
19: 47,636,634 (GRCm39) |
V1374I |
unknown |
Het |
| Crb2 |
G |
A |
2: 37,681,215 (GRCm39) |
G686D |
probably damaging |
Het |
| Dok1 |
A |
G |
6: 83,008,275 (GRCm39) |
V469A |
probably benign |
Het |
| Glg1 |
A |
G |
8: 111,924,301 (GRCm39) |
L229S |
probably damaging |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,645 (GRCm39) |
F218S |
probably benign |
Het |
| Kif1c |
T |
C |
11: 70,615,660 (GRCm39) |
V588A |
probably benign |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,866,438 (GRCm39) |
D497E |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,935,410 (GRCm39) |
F869L |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,773,542 (GRCm39) |
M1V |
probably null |
Het |
| Notum |
T |
C |
11: 120,551,019 (GRCm39) |
E49G |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,866,435 (GRCm39) |
T203I |
possibly damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,336,010 (GRCm39) |
A775T |
probably damaging |
Het |
| Pla2g4f |
C |
T |
2: 120,142,900 (GRCm39) |
R70Q |
probably benign |
Het |
| Plxna1 |
A |
T |
6: 89,296,440 (GRCm39) |
L1868Q |
probably damaging |
Het |
| Pmm2 |
T |
C |
16: 8,473,506 (GRCm39) |
L240P |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,008,687 (GRCm39) |
T667S |
probably damaging |
Het |
| Rsad1 |
A |
G |
11: 94,435,298 (GRCm39) |
V263A |
probably benign |
Het |
| Sardh |
C |
T |
2: 27,079,641 (GRCm39) |
V884M |
possibly damaging |
Het |
| Slc35a5 |
T |
C |
16: 44,964,426 (GRCm39) |
E269G |
probably damaging |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,781 (GRCm39) |
|
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Taf11 |
T |
C |
17: 28,122,136 (GRCm39) |
E116G |
probably damaging |
Het |
| Tbc1d10a |
G |
T |
11: 4,163,683 (GRCm39) |
A312S |
probably damaging |
Het |
| Tiam1 |
T |
A |
16: 89,694,647 (GRCm39) |
H270L |
probably benign |
Het |
| Vmn2r31 |
T |
A |
7: 7,387,367 (GRCm39) |
I735F |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,601,536 (GRCm39) |
R826Q |
|
Het |
|
| Other mutations in Parvb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01610:Parvb
|
APN |
15 |
84,187,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02415:Parvb
|
APN |
15 |
84,177,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02458:Parvb
|
APN |
15 |
84,187,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02937:Parvb
|
APN |
15 |
84,193,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Parvb
|
APN |
15 |
84,193,044 (GRCm39) |
splice site |
probably benign |
|
|
R0422:Parvb
|
UTSW |
15 |
84,179,812 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1470:Parvb
|
UTSW |
15 |
84,155,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Parvb
|
UTSW |
15 |
84,155,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1470:Parvb
|
UTSW |
15 |
84,155,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1470:Parvb
|
UTSW |
15 |
84,155,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Parvb
|
UTSW |
15 |
84,182,192 (GRCm39) |
splice site |
probably benign |
|
|
R2031:Parvb
|
UTSW |
15 |
84,167,036 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2146:Parvb
|
UTSW |
15 |
84,116,369 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2148:Parvb
|
UTSW |
15 |
84,116,369 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2149:Parvb
|
UTSW |
15 |
84,116,369 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2150:Parvb
|
UTSW |
15 |
84,116,369 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2508:Parvb
|
UTSW |
15 |
84,182,171 (GRCm39) |
missense |
probably benign |
|
|
R4770:Parvb
|
UTSW |
15 |
84,188,106 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5948:Parvb
|
UTSW |
15 |
84,187,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6492:Parvb
|
UTSW |
15 |
84,188,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6718:Parvb
|
UTSW |
15 |
84,182,180 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6719:Parvb
|
UTSW |
15 |
84,182,180 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6720:Parvb
|
UTSW |
15 |
84,182,180 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6722:Parvb
|
UTSW |
15 |
84,182,180 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7189:Parvb
|
UTSW |
15 |
84,187,672 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7285:Parvb
|
UTSW |
15 |
84,166,985 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7492:Parvb
|
UTSW |
15 |
84,174,651 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9046:Parvb
|
UTSW |
15 |
84,174,639 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9347:Parvb
|
UTSW |
15 |
84,155,523 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9373:Parvb
|
UTSW |
15 |
84,188,100 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCTTCCGTGGTCACCAG -3'
(R):5'- CATGAGCATCCGAGATGACC -3'
Sequencing Primer
(F):5'- CAGGCAGGTGTCTGGTAGC -3'
(R):5'- AGCATCCGAGATGACCTGCTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation