Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02415:Parvb'

292413

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Parvb

Ensembl Gene

ENSMUSG00000022438

Gene Name

parvin, beta

Synonyms

affixin, D15Gsk1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02415

Quality Score

Status

Chromosome

Chromosomal Location

84232043-84315688 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84292815 bp

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]

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: 122,947,991	D124G	probably benign	Het
Adamts13	T	A	2: 26,989,283	I616N	possibly damaging	Het
Adamts3	T	C	5: 89,706,647		probably null	Het
Amy1	T	C	3: 113,563,585	I202V	probably benign	Het
Bdp1	G	A	13: 100,089,408	T322I	probably damaging	Het
Cep295	A	G	9: 15,353,020	L110S	probably damaging	Het
Cep72	T	C	13: 74,050,154	D369G	probably benign	Het
Chd3	A	T	11: 69,348,913		probably benign	Het
Ckmt2	G	A	13: 91,863,340		probably benign	Het
Cyp2s1	T	C	7: 25,808,137	T296A	probably damaging	Het
E2f5	T	A	3: 14,603,897	V283E	probably benign	Het
F5	A	G	1: 164,191,929	T658A	probably damaging	Het
Fam102b	A	G	3: 108,980,292	Y219H	probably damaging	Het
Gml	A	T	15: 74,816,440	Y59*	probably null	Het
Kmo	A	T	1: 175,649,323		probably benign	Het
Krt25	A	T	11: 99,322,572	I107N	probably damaging	Het
Llgl2	A	G	11: 115,853,285	M773V	probably damaging	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Med12	T	C	X: 101,281,790	V761A	probably damaging	Het
Mrpl19	T	C	6: 81,963,961	T150A	probably benign	Het
Muc2	G	T	7: 141,751,872	E646*	probably null	Het
Muc20	T	A	16: 32,794,681	T109S	unknown	Het
Nr2f6	T	C	8: 71,374,512	T382A	probably benign	Het
Nrap	A	G	19: 56,382,309	I172T	probably damaging	Het
Olfr1434	A	G	19: 12,283,498	Y150C	probably benign	Het
Olfr911-ps1	T	C	9: 38,524,112	C127R	probably benign	Het
P3h1	A	T	4: 119,247,955	Q710L	probably benign	Het
Pkhd1	A	G	1: 20,414,421	I1970T	probably damaging	Het
Pkhd1	T	C	1: 20,522,759	Y1710C	probably damaging	Het
Plxna2	C	A	1: 194,643,964	R69S	probably damaging	Het
Rad51ap2	A	G	12: 11,456,929	N284S	possibly damaging	Het
Reln	T	A	5: 21,971,951	S1906C	possibly damaging	Het
Rln1	T	C	19: 29,334,398	R67G	probably damaging	Het
Shcbp1	C	T	8: 4,754,239	V224I	possibly damaging	Het
Slc13a4	A	G	6: 35,283,237		probably null	Het
Stx6	A	G	1: 155,193,313	E195G	possibly damaging	Het
Sult2b1	G	T	7: 45,742,085	D90E	possibly damaging	Het
Taok1	A	G	11: 77,540,240		probably benign	Het
Tbx15	A	T	3: 99,352,510	M566L	probably benign	Het
Tcaf1	C	T	6: 42,686,650	A99T	probably benign	Het
Tcf20	T	A	15: 82,853,459	M1264L	probably benign	Het
Tenm4	G	A	7: 96,874,074	V1571M	probably damaging	Het
Ttc39a	A	G	4: 109,431,529		probably benign	Het
Ubr1	C	A	2: 120,970,603		probably benign	Het
Ulk1	T	C	5: 110,787,621	D926G	probably damaging	Het
Vmn2r110	T	C	17: 20,583,771	I181V	probably benign	Het
Vmn2r66	G	A	7: 85,006,812	T332I	probably damaging	Het
Wdr1	C	A	5: 38,531,110	D161Y	probably damaging	Het
Wnt7a	T	C	6: 91,394,557	Y141C	probably damaging	Het
Xrra1	G	A	7: 99,915,943	E573K	probably benign	Het
Zfp334	G	T	2: 165,381,851	Q91K	possibly damaging	Het

Other mutations in Parvb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01610:Parvb	APN	15	84303465	missense	probably damaging	1.00
IGL02458:Parvb	APN	15	84303434	missense	probably damaging	1.00
IGL02937:Parvb	APN	15	84308953	missense	probably damaging	1.00
IGL03088:Parvb	APN	15	84308843	splice site	probably benign
R0422:Parvb	UTSW	15	84295611	missense	probably benign	0.28
R1470:Parvb	UTSW	15	84271308	missense	probably benign	0.00
R1470:Parvb	UTSW	15	84271252	missense	probably damaging	1.00
R1470:Parvb	UTSW	15	84271308	missense	probably benign	0.00
R1470:Parvb	UTSW	15	84271252	missense	probably damaging	1.00
R1713:Parvb	UTSW	15	84297991	splice site	probably benign
R2031:Parvb	UTSW	15	84282835	missense	probably benign	0.09
R2146:Parvb	UTSW	15	84232168	missense	possibly damaging	0.63
R2148:Parvb	UTSW	15	84232168	missense	possibly damaging	0.63
R2149:Parvb	UTSW	15	84232168	missense	possibly damaging	0.63
R2150:Parvb	UTSW	15	84232168	missense	possibly damaging	0.63
R2508:Parvb	UTSW	15	84297970	missense	probably benign
R4770:Parvb	UTSW	15	84303905	critical splice donor site	probably null
R5948:Parvb	UTSW	15	84303461	missense	probably damaging	1.00
R6492:Parvb	UTSW	15	84303872	missense	probably damaging	1.00
R6718:Parvb	UTSW	15	84297979	missense	probably damaging	0.96
R6719:Parvb	UTSW	15	84297979	missense	probably damaging	0.96
R6720:Parvb	UTSW	15	84297979	missense	probably damaging	0.96
R6722:Parvb	UTSW	15	84297979	missense	probably damaging	0.96
R7189:Parvb	UTSW	15	84303471	critical splice donor site	probably null
R7285:Parvb	UTSW	15	84282784	missense	possibly damaging	0.94
R7492:Parvb	UTSW	15	84290450	missense	probably damaging	0.98

Posted On

2015-04-16