Mutagenetix > Incidental Mutation

Incidental Mutation 'R2150:Parvb'

234223

Institutional Source

Beutler Lab

Gene Symbol

Parvb

Ensembl Gene

ENSMUSG00000022438

Gene Name

parvin, beta

Synonyms

D15Gsk1, affixin

MMRRC Submission

040153-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2150 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84116244-84199889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84116369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 33 (K33E)

Ref Sequence

ENSEMBL: ENSMUSP00000023072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023072] [ENSMUST00000122818]

AlphaFold

Q9ES46

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023072
AA Change: K33E

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023072
Gene: ENSMUSG00000022438
AA Change: K33E

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

unknown
Transcript: ENSMUST00000122818
AA Change: K33E

SMART Domains

Protein: ENSMUSP00000117594
Gene: ENSMUSG00000022438
AA Change: K33E

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC

Meta Mutation Damage Score

0.0703

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

98% (59/60)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	C	T	8: 88,312,691 (GRCm39)	Q159*	probably null	Het
Abca12	C	A	1: 71,302,647 (GRCm39)	V2191L	probably benign	Het
Adam34	A	G	8: 44,105,538 (GRCm39)	Y36H	probably benign	Het
Adprm	A	G	11: 66,929,055 (GRCm39)	V312A	probably benign	Het
Anapc2	T	C	2: 25,162,682 (GRCm39)	L52P	probably benign	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Apoc4	T	A	7: 19,412,560 (GRCm39)	T62S	probably damaging	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgap32	A	G	9: 32,027,436 (GRCm39)	E2G	possibly damaging	Het
Atg4c	C	A	4: 99,109,463 (GRCm39)	N143K	possibly damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Ccdc63	C	G	5: 122,265,628 (GRCm39)	A71P	possibly damaging	Het
Cdca2	T	C	14: 67,952,258 (GRCm39)	K38E	probably damaging	Het
Cyp2j11	G	A	4: 96,204,595 (GRCm39)	T317I	probably damaging	Het
Dab2	T	C	15: 6,446,398 (GRCm39)	V5A	probably benign	Het
Dennd3	A	T	15: 73,426,909 (GRCm39)	H762L	probably benign	Het
Disp1	A	G	1: 182,869,936 (GRCm39)	F828S	probably damaging	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dock2	A	G	11: 34,179,472 (GRCm39)		probably null	Het
Dsel	A	T	1: 111,787,987 (GRCm39)	N849K	probably benign	Het
Fah	A	T	7: 84,244,042 (GRCm39)	I239N	probably damaging	Het
Flt4	T	C	11: 49,536,824 (GRCm39)	Y1265H	probably benign	Het
Ghdc	T	C	11: 100,660,018 (GRCm39)	E243G	probably benign	Het
Glb1	T	C	9: 114,279,716 (GRCm39)	Y375H	probably damaging	Het
Gm6619	A	G	6: 131,466,021 (GRCm39)	I40V	probably benign	Het
Gpld1	T	C	13: 25,146,630 (GRCm39)	V225A	probably benign	Het
Hectd4	T	C	5: 121,391,921 (GRCm39)		probably benign	Het
Igdcc4	A	G	9: 65,032,617 (GRCm39)	I542V	possibly damaging	Het
Igsf9b	T	C	9: 27,245,633 (GRCm39)	L1200P	probably damaging	Het
Itgb7	C	T	15: 102,130,553 (GRCm39)	V378M	probably damaging	Het
Krt84	T	C	15: 101,438,019 (GRCm39)	E312G	possibly damaging	Het
Man2a2	A	G	7: 80,017,532 (GRCm39)	W250R	probably damaging	Het
Mcam	T	C	9: 44,047,932 (GRCm39)	V59A	probably damaging	Het
Mfrp	T	C	9: 44,015,015 (GRCm39)	L314P	probably benign	Het
Mgat5	T	C	1: 127,396,987 (GRCm39)	V578A	probably damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myh1	A	C	11: 67,113,234 (GRCm39)	D1873A	probably benign	Het
Nek9	A	G	12: 85,376,677 (GRCm39)	W235R	probably damaging	Het
Or9g19	T	C	2: 85,600,342 (GRCm39)	S66P	probably damaging	Het
Pecr	T	C	1: 72,316,517 (GRCm39)	R63G	possibly damaging	Het
Pkhd1l1	T	G	15: 44,363,378 (GRCm39)		probably null	Het
Plekha5	T	C	6: 140,516,129 (GRCm39)	V270A	probably damaging	Het
Prr14l	T	C	5: 32,988,046 (GRCm39)	D483G	probably benign	Het
Rimkla	T	A	4: 119,331,779 (GRCm39)	M140L	possibly damaging	Het
Senp1	C	T	15: 97,956,196 (GRCm39)	V408I	possibly damaging	Het
Stambpl1	T	A	19: 34,204,104 (GRCm39)	Y65N	probably damaging	Het
Tada2a	T	C	11: 83,970,455 (GRCm39)	D432G	probably damaging	Het
Themis	T	A	10: 28,544,723 (GRCm39)	I23N	probably damaging	Het
Thnsl1	T	C	2: 21,217,344 (GRCm39)	I366T	probably benign	Het
Tmem131	C	A	1: 36,851,690 (GRCm39)	V938L	probably benign	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Vmn1r195	C	G	13: 22,462,934 (GRCm39)	L135V	possibly damaging	Het
Vmn2r-ps36	C	T	7: 7,431,539 (GRCm39)		noncoding transcript	Het
Zfp956	G	A	6: 47,940,805 (GRCm39)	R388H	probably damaging	Het
Zfr2	T	G	10: 81,077,950 (GRCm39)	V259G	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GACCGTACATGTTTGTGGGAC -3'
(R):5'- GCACTGCAAATGTCTTACGGAC -3'

Sequencing Primer
(F):5'- GGACTAATTGATTCTGGGCTTCC -3'
(R):5'- ACAGGGACCGGCCTGTC -3'

Posted On

2014-10-01