Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02415:Parvb'

292413

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Parvb

Ensembl Gene

ENSMUSG00000022438

Gene Name

parvin, beta

Synonyms

D15Gsk1, affixin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02415

Quality Score

Status

Chromosome

Chromosomal Location

84116244-84199889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84177016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 185 (H185R)

Ref Sequence

ENSEMBL: ENSMUSP00000023072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023072]

AlphaFold

Q9ES46

Predicted Effect

probably damaging
Transcript: ENSMUST00000023072
AA Change: H185R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023072
Gene: ENSMUSG00000022438
AA Change: H185R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146020

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,777,056 (GRCm39)	D124G	probably benign	Het
Adamts13	T	A	2: 26,879,295 (GRCm39)	I616N	possibly damaging	Het
Adamts3	T	C	5: 89,854,506 (GRCm39)		probably null	Het
Amy1	T	C	3: 113,357,234 (GRCm39)	I202V	probably benign	Het
Bdp1	G	A	13: 100,225,916 (GRCm39)	T322I	probably damaging	Het
Cep295	A	G	9: 15,264,316 (GRCm39)	L110S	probably damaging	Het
Cep72	T	C	13: 74,198,273 (GRCm39)	D369G	probably benign	Het
Chd3	A	T	11: 69,239,739 (GRCm39)		probably benign	Het
Ckmt2	G	A	13: 92,011,459 (GRCm39)		probably benign	Het
Cyp2s1	T	C	7: 25,507,562 (GRCm39)	T296A	probably damaging	Het
E2f5	T	A	3: 14,668,957 (GRCm39)	V283E	probably benign	Het
Eeig2	A	G	3: 108,887,608 (GRCm39)	Y219H	probably damaging	Het
F5	A	G	1: 164,019,498 (GRCm39)	T658A	probably damaging	Het
Gml	A	T	15: 74,688,289 (GRCm39)	Y59*	probably null	Het
Kmo	A	T	1: 175,476,889 (GRCm39)		probably benign	Het
Krt25	A	T	11: 99,213,398 (GRCm39)	I107N	probably damaging	Het
Llgl2	A	G	11: 115,744,111 (GRCm39)	M773V	probably damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Med12	T	C	X: 100,325,396 (GRCm39)	V761A	probably damaging	Het
Mrpl19	T	C	6: 81,940,942 (GRCm39)	T150A	probably benign	Het
Muc2	G	T	7: 141,305,609 (GRCm39)	E646*	probably null	Het
Muc20	T	A	16: 32,615,051 (GRCm39)	T109S	unknown	Het
Nr2f6	T	C	8: 71,827,156 (GRCm39)	T382A	probably benign	Het
Nrap	A	G	19: 56,370,741 (GRCm39)	I172T	probably damaging	Het
Or5an1	A	G	19: 12,260,862 (GRCm39)	Y150C	probably benign	Het
Or8b47	T	C	9: 38,435,408 (GRCm39)	C127R	probably benign	Het
P3h1	A	T	4: 119,105,152 (GRCm39)	Q710L	probably benign	Het
Pkhd1	A	G	1: 20,484,645 (GRCm39)	I1970T	probably damaging	Het
Pkhd1	T	C	1: 20,592,983 (GRCm39)	Y1710C	probably damaging	Het
Plxna2	C	A	1: 194,326,272 (GRCm39)	R69S	probably damaging	Het
Rad51ap2	A	G	12: 11,506,930 (GRCm39)	N284S	possibly damaging	Het
Reln	T	A	5: 22,176,949 (GRCm39)	S1906C	possibly damaging	Het
Rln1	T	C	19: 29,311,798 (GRCm39)	R67G	probably damaging	Het
Shcbp1	C	T	8: 4,804,239 (GRCm39)	V224I	possibly damaging	Het
Slc13a4	A	G	6: 35,260,172 (GRCm39)		probably null	Het
Stx6	A	G	1: 155,069,059 (GRCm39)	E195G	possibly damaging	Het
Sult2b1	G	T	7: 45,391,509 (GRCm39)	D90E	possibly damaging	Het
Taok1	A	G	11: 77,431,066 (GRCm39)		probably benign	Het
Tbx15	A	T	3: 99,259,826 (GRCm39)	M566L	probably benign	Het
Tcaf1	C	T	6: 42,663,584 (GRCm39)	A99T	probably benign	Het
Tcf20	T	A	15: 82,737,660 (GRCm39)	M1264L	probably benign	Het
Tenm4	G	A	7: 96,523,281 (GRCm39)	V1571M	probably damaging	Het
Ttc39a	A	G	4: 109,288,726 (GRCm39)		probably benign	Het
Ubr1	C	A	2: 120,801,084 (GRCm39)		probably benign	Het
Ulk1	T	C	5: 110,935,487 (GRCm39)	D926G	probably damaging	Het
Vmn2r110	T	C	17: 20,804,033 (GRCm39)	I181V	probably benign	Het
Vmn2r66	G	A	7: 84,656,020 (GRCm39)	T332I	probably damaging	Het
Wdr1	C	A	5: 38,688,453 (GRCm39)	D161Y	probably damaging	Het
Wnt7a	T	C	6: 91,371,539 (GRCm39)	Y141C	probably damaging	Het
Xrra1	G	A	7: 99,565,150 (GRCm39)	E573K	probably benign	Het
Zfp334	G	T	2: 165,223,771 (GRCm39)	Q91K	possibly damaging	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
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
R9714:Parvb	UTSW	15	84,167,041 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16