Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Parvb'

233864

Institutional Source

Beutler Lab

Gene Symbol

Parvb

Ensembl Gene

ENSMUSG00000022438

Gene Name

parvin, beta

Synonyms

D15Gsk1, affixin

MMRRC Submission

040149-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2146 (G1)

Quality Score

174

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: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (84/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,324,803 (GRCm39)		probably null	Het
9530002B09Rik	T	A	4: 122,583,198 (GRCm39)	C13*	probably null	Het
Abca12	C	A	1: 71,302,647 (GRCm39)	V2191L	probably benign	Het
Adamts18	G	C	8: 114,571,635 (GRCm39)	A116G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgap6	A	G	X: 167,579,496 (GRCm39)	T94A	probably benign	Het
Arhgef5	T	C	6: 43,260,252 (GRCm39)	S1413P	probably 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
Ccdc185	G	T	1: 182,575,085 (GRCm39)	H535N	possibly damaging	Het
Ccdc57	A	G	11: 120,776,051 (GRCm39)		probably benign	Het
Cd163	A	G	6: 124,286,167 (GRCm39)	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,227,368 (GRCm39)	C166*	probably null	Het
Ces5a	T	A	8: 94,261,327 (GRCm39)	E33D	probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Chsy3	G	A	18: 59,309,544 (GRCm39)	V266I	probably benign	Het
Cpa5	G	T	6: 30,626,821 (GRCm39)	R251L	probably damaging	Het
Cps1	A	C	1: 67,191,538 (GRCm39)		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cstf1	T	C	2: 172,217,683 (GRCm39)	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,204,595 (GRCm39)	T317I	probably damaging	Het
Dcaf8l	T	C	X: 88,449,883 (GRCm39)	D82G	possibly damaging	Het
Dennd3	C	T	15: 73,395,345 (GRCm39)	T146M	probably damaging	Het
Dennd3	A	T	15: 73,426,909 (GRCm39)	H762L	probably benign	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dnajc22	T	C	15: 99,002,264 (GRCm39)	V303A	probably benign	Het
Dtx2	T	G	5: 136,059,464 (GRCm39)	L458R	probably benign	Het
Fat3	A	T	9: 15,901,808 (GRCm39)	F3072L	probably benign	Het
Fgf5	T	C	5: 98,423,409 (GRCm39)	*265R	probably null	Het
Fndc11	A	G	2: 180,863,918 (GRCm39)	E241G	probably damaging	Het
Glb1	T	C	9: 114,279,716 (GRCm39)	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,659,264 (GRCm39)	Q486P	probably benign	Het
Gm5786	A	T	12: 59,128,084 (GRCm39)		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378 (GRCm39)		probably benign	Het
Ints9	G	A	14: 65,223,792 (GRCm39)	G89R	possibly damaging	Het
Iqcm	T	A	8: 76,615,241 (GRCm39)	W441R	probably damaging	Het
Itga10	T	C	3: 96,558,808 (GRCm39)	L382P	possibly damaging	Het
Itga10	G	T	3: 96,561,039 (GRCm39)	G635W	probably damaging	Het
Kbtbd2	A	G	6: 56,756,075 (GRCm39)	Y554H	probably damaging	Het
Kif1b	T	C	4: 149,268,766 (GRCm39)	K1649R	probably damaging	Het
L1cam	A	T	X: 72,904,747 (GRCm39)	F536Y	probably damaging	Het
Magee1	A	T	X: 104,166,564 (GRCm39)	D783V	probably damaging	Het
Marveld3	A	T	8: 110,686,434 (GRCm39)	V144E	probably benign	Het
Mcam	T	C	9: 44,047,932 (GRCm39)	V59A	probably damaging	Het
Mdga2	C	T	12: 66,915,515 (GRCm39)	E47K	probably damaging	Het
Metrn	T	A	17: 26,015,601 (GRCm39)	E38V	probably damaging	Het
Mfrp	T	C	9: 44,015,015 (GRCm39)	L314P	probably benign	Het
Mgat4f	T	A	1: 134,318,251 (GRCm39)	M341K	probably damaging	Het
Mideas	G	T	12: 84,219,809 (GRCm39)	P382T	probably damaging	Het
Mospd2	A	G	X: 163,739,473 (GRCm39)		probably null	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myh6	C	T	14: 55,191,228 (GRCm39)	R871H	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or13c7b	A	G	4: 43,821,178 (GRCm39)	F61S	probably damaging	Het
Or5b111	T	C	19: 13,291,485 (GRCm39)	T55A	probably benign	Het
Or8i2	T	A	2: 86,852,009 (GRCm39)	N293I	probably damaging	Het
Pdcd11	A	G	19: 47,093,191 (GRCm39)	M490V	probably benign	Het
Pkd2	A	C	5: 104,603,456 (GRCm39)		probably benign	Het
Reps1	T	A	10: 17,969,061 (GRCm39)	D206E	probably benign	Het
Rimkla	T	A	4: 119,331,779 (GRCm39)	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,709,907 (GRCm39)	I150S	probably null	Het
Rxfp4	C	T	3: 88,560,200 (GRCm39)	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,533,657 (GRCm39)	D237E	probably benign	Het
Sgo2b	T	G	8: 64,381,057 (GRCm39)	T592P	probably benign	Het
Slc35d1	A	T	4: 103,062,349 (GRCm39)	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,156,757 (GRCm39)	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,712,161 (GRCm39)	V230A	probably benign	Het
Slc9a3	A	G	13: 74,269,722 (GRCm39)	E30G	probably benign	Het
Slc9c1	A	G	16: 45,413,827 (GRCm39)	Y985C	probably benign	Het
Supt6	A	G	11: 78,121,758 (GRCm39)	F298S	probably damaging	Het
Tada2a	T	C	11: 83,970,455 (GRCm39)	D432G	probably damaging	Het
Thoc2l	T	C	5: 104,666,857 (GRCm39)	F460L	probably benign	Het
Tmem131	C	A	1: 36,851,690 (GRCm39)	V938L	probably benign	Het
Tnpo3	A	G	6: 29,589,035 (GRCm39)	V105A	probably benign	Het
Ttc7	T	C	17: 87,654,135 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,727,532 (GRCm39)		probably benign	Het
Usp16	T	C	16: 87,270,075 (GRCm39)		probably null	Het
Usp36	A	G	11: 118,159,491 (GRCm39)	L486S	probably benign	Het
Uty	T	C	Y: 1,239,816 (GRCm39)	I72V	probably benign	Het
Vps51	A	G	19: 6,118,164 (GRCm39)	V777A	probably benign	Het
Zfp160	A	G	17: 21,247,244 (GRCm39)	K598R	probably benign	Het
Zfp39	T	C	11: 58,781,158 (GRCm39)	N535D	probably benign	Het
Zfp804a	A	G	2: 82,089,008 (GRCm39)	T946A	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
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'- GGACTAATTGATTCTGGGCTTCC -3'
(R):5'- CAGCACTGCAAATGTCTTACG -3'

Sequencing Primer
(F):5'- CAGGGTCCTGCTGTATTGC -3'
(R):5'- GGACAGGGACCGGCCTG -3'

Posted On

2014-10-01