Incidental Mutation 'R6465:Parvg'
| ID |
517795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parvg
|
| Ensembl Gene |
ENSMUSG00000022439 |
| Gene Name |
parvin, gamma |
| Synonyms |
|
| MMRRC Submission |
044598-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6465 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
84208388-84227179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84213141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 127
(D127G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023074]
[ENSMUST00000125928]
[ENSMUST00000139235]
[ENSMUST00000145809]
[ENSMUST00000151072]
[ENSMUST00000163667]
|
| AlphaFold |
Q9ERD8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023074
AA Change: D74G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023074
Gene: ENSMUSG00000022439
AA Change: D74G
| 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 damaging
Transcript: ENSMUST00000145809
AA Change: D24G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151072
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163667
AA Change: D127G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131443
Gene: ENSMUSG00000022439
AA Change: D127G
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
95% (40/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
A |
6: 128,518,041 (GRCm39) |
T1415I |
probably damaging |
Het |
| Acvr2b |
T |
A |
9: 119,262,369 (GRCm39) |
W461R |
probably damaging |
Het |
| Adam23 |
G |
T |
1: 63,605,827 (GRCm39) |
C637F |
probably damaging |
Het |
| Apol8 |
T |
G |
15: 77,634,148 (GRCm39) |
T143P |
probably benign |
Het |
| Bfsp1 |
A |
C |
2: 143,699,975 (GRCm39) |
|
probably null |
Het |
| Cytl1 |
T |
C |
5: 37,895,014 (GRCm39) |
V99A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,453,413 (GRCm39) |
V793E |
probably damaging |
Het |
| Fxyd5 |
G |
T |
7: 30,737,305 (GRCm39) |
T81K |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,972,151 (GRCm39) |
Y364C |
probably damaging |
Het |
| Get3 |
A |
T |
8: 85,745,194 (GRCm39) |
M291K |
probably benign |
Het |
| Haghl |
T |
C |
17: 26,002,793 (GRCm39) |
N190S |
possibly damaging |
Het |
| Inpp5j |
C |
A |
11: 3,452,293 (GRCm39) |
R319L |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,260,188 (GRCm39) |
N304S |
probably benign |
Het |
| Isoc1 |
T |
A |
18: 58,804,328 (GRCm39) |
C119S |
probably damaging |
Het |
| Klhl18 |
A |
G |
9: 110,257,988 (GRCm39) |
M414T |
probably benign |
Het |
| Krtap2-4 |
A |
G |
11: 99,505,585 (GRCm39) |
|
probably benign |
Het |
| Krtap3-1 |
G |
A |
11: 99,457,277 (GRCm39) |
P45S |
possibly damaging |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,711,887 (GRCm39) |
V1754A |
possibly damaging |
Het |
| Nedd4l |
T |
A |
18: 65,288,335 (GRCm39) |
D119E |
probably benign |
Het |
| Nsun7 |
T |
C |
5: 66,452,929 (GRCm39) |
V548A |
probably benign |
Het |
| Or5m12 |
A |
T |
2: 85,734,883 (GRCm39) |
S172T |
probably benign |
Het |
| Or6b6 |
A |
T |
7: 106,571,419 (GRCm39) |
V44E |
possibly damaging |
Het |
| Pate13 |
A |
T |
9: 35,819,921 (GRCm39) |
N25Y |
possibly damaging |
Het |
| Piezo2 |
T |
A |
18: 63,174,734 (GRCm39) |
M2007L |
possibly damaging |
Het |
| Pou2f3 |
A |
C |
9: 43,051,162 (GRCm39) |
F175V |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,233,209 (GRCm39) |
I958T |
probably damaging |
Het |
| Pwwp2b |
T |
C |
7: 138,835,951 (GRCm39) |
V464A |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,468,582 (GRCm39) |
Y982H |
probably damaging |
Het |
| Rad17 |
T |
A |
13: 100,773,588 (GRCm39) |
N202I |
probably benign |
Het |
| Rtel1 |
T |
A |
2: 180,977,733 (GRCm39) |
D271E |
possibly damaging |
Het |
| Sos2 |
T |
C |
12: 69,643,549 (GRCm39) |
S943G |
probably benign |
Het |
| Tdpoz6 |
A |
G |
3: 93,600,303 (GRCm39) |
I22T |
probably damaging |
Het |
| Tm9sf2 |
A |
G |
14: 122,378,619 (GRCm39) |
H241R |
probably benign |
Het |
| Ttc8 |
A |
G |
12: 98,930,829 (GRCm39) |
E291G |
probably damaging |
Het |
| Unc93a2 |
G |
T |
17: 7,641,842 (GRCm39) |
T202K |
probably damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,692 (GRCm39) |
C211R |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,096,576 (GRCm39) |
D1219E |
probably damaging |
Het |
| Zc3hav1 |
T |
C |
6: 38,308,784 (GRCm39) |
Y586C |
possibly damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,976,618 (GRCm39) |
F471I |
probably benign |
Het |
| Zfp719 |
C |
A |
7: 43,240,108 (GRCm39) |
Y565* |
probably null |
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 |
|
R5755:Parvg
|
UTSW |
15 |
84,215,297 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6453:Parvg
|
UTSW |
15 |
84,213,126 (GRCm39) |
missense |
probably null |
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'- TCACATACCAGGATGATAGCTCC -3'
(R):5'- CAATCTTTGAAAGCCATAAGGGG -3'
Sequencing Primer
(F):5'- CTAGGGAGAACTTTCTGGAACTC -3'
(R):5'- GGTTCCCCCACACACAC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation