Mutagenetix > Incidental Mutation

Incidental Mutation 'R2031:Parvb'

221285

Institutional Source

Beutler Lab

Gene Symbol

Parvb

Ensembl Gene

ENSMUSG00000022438

Gene Name

parvin, beta

Synonyms

D15Gsk1, affixin

MMRRC Submission

040038-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2031 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

84116244-84199889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84167036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 117 (Y117F)

Ref Sequence

ENSEMBL: ENSMUSP00000023072 (fasta)

Gene Model

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

AlphaFold

Q9ES46

Predicted Effect

probably benign
Transcript: ENSMUST00000023072
AA Change: Y117F

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023072
Gene: ENSMUSG00000022438
AA Change: Y117F

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

Meta Mutation Damage Score

0.1266

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (55/56)

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
Adam1b	G	T	5: 121,639,118 (GRCm39)	N642K	possibly damaging	Het
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Aoc1l1	T	C	6: 48,952,789 (GRCm39)	V238A	probably damaging	Het
Arhgap28	G	T	17: 68,203,111 (GRCm39)	T114N	probably damaging	Het
Arid5b	A	G	10: 68,114,518 (GRCm39)		probably null	Het
Atp10a	T	A	7: 58,477,678 (GRCm39)	C1292*	probably null	Het
Casp4	A	G	9: 5,321,401 (GRCm39)	S51G	probably benign	Het
Cast	T	C	13: 74,946,771 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,891,715 (GRCm39)	F736L	probably damaging	Het
Cdon	T	C	9: 35,415,370 (GRCm39)	S1203P	probably damaging	Het
Cep290	G	A	10: 100,348,262 (GRCm39)		probably null	Het
Cep85	A	G	4: 133,859,761 (GRCm39)	V634A	probably benign	Het
Cpeb3	C	T	19: 37,022,079 (GRCm39)	R589H	probably damaging	Het
Crebrf	T	G	17: 26,961,895 (GRCm39)	S331A	probably damaging	Het
Cul5	A	G	9: 53,578,480 (GRCm39)	V36A	probably benign	Het
Dock2	T	A	11: 34,618,297 (GRCm39)		probably benign	Het
Dstyk	G	A	1: 132,380,929 (GRCm39)	A475T	probably damaging	Het
Enpp6	C	A	8: 47,506,649 (GRCm39)	P151Q	probably damaging	Het
Fan1	A	G	7: 64,004,172 (GRCm39)	Y765H	probably damaging	Het
Hsfy2	A	T	1: 56,675,476 (GRCm39)	S354T	probably benign	Het
Ifi204	A	C	1: 173,580,343 (GRCm39)	F389C	probably damaging	Het
Ikbip	T	C	10: 90,932,474 (GRCm39)	Y373H	probably benign	Het
Kbtbd11	C	A	8: 15,078,021 (GRCm39)	P207T	possibly damaging	Het
Krt73	A	C	15: 101,707,199 (GRCm39)		probably benign	Het
Mfsd6	T	A	1: 52,748,013 (GRCm39)	Q284L	probably benign	Het
Mmp1b	T	A	9: 7,368,607 (GRCm39)	D415V	possibly damaging	Het
Mrc1	A	T	2: 14,326,584 (GRCm39)	T1161S	probably damaging	Het
Ms4a18	A	G	19: 10,991,014 (GRCm39)	S27P	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Mycbp2	G	T	14: 103,426,028 (GRCm39)	R2366S	probably damaging	Het
Nfkbia	A	G	12: 55,537,937 (GRCm39)	L172P	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Or1d2	A	G	11: 74,255,777 (GRCm39)	Y94C	probably damaging	Het
Or2ag15	A	G	7: 106,341,105 (GRCm39)	F12S	probably damaging	Het
Or4c107	A	G	2: 88,789,643 (GRCm39)	T278A	probably benign	Het
Or51f1e	A	G	7: 102,747,371 (GRCm39)	Y141C	probably damaging	Het
Or5an10	A	T	19: 12,275,740 (GRCm39)	V252D	probably damaging	Het
Or5b112	T	C	19: 13,319,770 (GRCm39)	L216S	probably benign	Het
Plch2	A	G	4: 155,127,484 (GRCm39)		probably benign	Het
Plxnb2	A	T	15: 89,047,013 (GRCm39)	C769*	probably null	Het
Plxnc1	G	T	10: 94,779,529 (GRCm39)	D304E	probably benign	Het
Prkg2	T	C	5: 99,172,310 (GRCm39)	D135G	possibly damaging	Het
Ptprb	A	G	10: 116,153,448 (GRCm39)	D635G	probably benign	Het
Rapgef6	T	G	11: 54,443,684 (GRCm39)	V89G	probably benign	Het
Ror2	T	A	13: 53,271,366 (GRCm39)	T330S	probably benign	Het
Ros1	A	G	10: 51,943,164 (GRCm39)	V2050A	possibly damaging	Het
Serpinb6e	T	C	13: 34,021,733 (GRCm39)		probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Smarca4	T	C	9: 21,597,358 (GRCm39)	V1371A	possibly damaging	Het
Syvn1	G	A	19: 6,100,560 (GRCm39)	R317H	probably damaging	Het
Tdo2	T	A	3: 81,876,812 (GRCm39)	D139V	probably damaging	Het
Tmem130	A	G	5: 144,689,236 (GRCm39)	V135A	possibly damaging	Het
Tpr	A	T	1: 150,317,870 (GRCm39)	Q2126L	probably benign	Het
Txlnb	A	G	10: 17,706,062 (GRCm39)	M324V	possibly damaging	Het
Ubxn10	A	G	4: 138,448,574 (GRCm39)	M34T	possibly damaging	Het
Vmn2r95	T	C	17: 18,659,717 (GRCm39)	W154R	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGTCTTCCGTGGTCACCAG -3'
(R):5'- GCATGAGCATCCGAGATGAC -3'

Sequencing Primer
(F):5'- CAGGCAGGTGTCTGGTAGC -3'
(R):5'- AGCATCCGAGATGACCTGCTG -3'

Posted On

2014-08-25