Mutagenetix > Incidental Mutation

Incidental Mutation 'R9373:Parvb'

709460

Institutional Source

Beutler Lab

Gene Symbol

Parvb

Ensembl Gene

ENSMUSG00000022438

Gene Name

parvin, beta

Synonyms

D15Gsk1, affixin

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84116244-84199889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84188100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 281 (T281I)

Ref Sequence

ENSEMBL: ENSMUSP00000023072 (fasta)

Gene Model

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

AlphaFold

Q9ES46

Predicted Effect

probably damaging
Transcript: ENSMUST00000023072
AA Change: T281I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023072
Gene: ENSMUSG00000022438
AA Change: T281I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (53/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
2310003L06Rik	A	C	5: 88,120,668 (GRCm39)	D475A	probably benign	Het
Aatk	T	C	11: 119,906,343 (GRCm39)	M243V	possibly damaging	Het
Acox1	A	T	11: 116,065,173 (GRCm39)	N627K	possibly damaging	Het
Adal	A	G	2: 120,980,703 (GRCm39)	Y142C	probably benign	Het
Agfg2	A	G	5: 137,662,476 (GRCm39)		probably null	Het
Ajap1	C	T	4: 153,516,670 (GRCm39)	A224T	probably benign	Het
Alg1	T	C	16: 5,056,990 (GRCm39)	F234L	probably benign	Het
Arhgap27	G	T	11: 103,251,287 (GRCm39)	A147E	possibly damaging	Het
C9orf72	A	G	4: 35,196,985 (GRCm39)	F360S		Het
Cachd1	T	C	4: 100,832,067 (GRCm39)	V743A	possibly damaging	Het
Cc2d2b	G	A	19: 40,784,167 (GRCm39)	V655I	unknown	Het
Cd72	T	C	4: 43,450,141 (GRCm39)	S256G	possibly damaging	Het
Celf2	G	T	2: 6,551,915 (GRCm39)	N521K	probably benign	Het
Clca4a	T	A	3: 144,672,133 (GRCm39)	N270Y	possibly damaging	Het
Clvs2	A	T	10: 33,404,382 (GRCm39)	V278E	probably benign	Het
Cwf19l2	T	C	9: 3,454,718 (GRCm39)	F677S	probably damaging	Het
Dnaaf4	A	G	9: 72,871,462 (GRCm39)	T241A	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Epdr1	T	C	13: 19,778,707 (GRCm39)	N130D	possibly damaging	Het
Fam184a	G	A	10: 53,566,115 (GRCm39)	R491W	probably benign	Het
Foxp2	A	G	6: 15,377,969 (GRCm39)	Q160R	unknown	Het
Fstl5	T	A	3: 76,555,669 (GRCm39)	Y515*	probably null	Het
Garin5b	T	C	7: 4,760,712 (GRCm39)	M667V		Het
Helz2	G	T	2: 180,882,741 (GRCm39)	N17K	probably benign	Het
Irag1	A	G	7: 110,545,038 (GRCm39)		probably null	Het
Jmjd1c	C	T	10: 66,932,495 (GRCm39)		probably benign	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Lrrn1	A	C	6: 107,545,465 (GRCm39)	Q421P	possibly damaging	Het
Mapk1	A	G	16: 16,836,154 (GRCm39)	I101V	probably benign	Het
Me2	T	C	18: 73,918,800 (GRCm39)	E427G	probably damaging	Het
Mrc1	G	A	2: 14,274,999 (GRCm39)	M433I	probably damaging	Het
Nelfb	G	A	2: 25,095,218 (GRCm39)	R324W	probably damaging	Het
Nlrp4b	T	A	7: 10,449,126 (GRCm39)	I443K	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or5b118	A	G	19: 13,449,216 (GRCm39)	E294G	probably damaging	Het
Or8b50	G	A	9: 38,518,142 (GRCm39)	C127Y	possibly damaging	Het
Or8b9	T	A	9: 37,766,750 (GRCm39)	V212D	probably damaging	Het
Or9g3	A	T	2: 85,590,275 (GRCm39)	Y148*	probably null	Het
Prune2	A	G	19: 17,099,502 (GRCm39)	T1669A	probably benign	Het
Runx3	A	G	4: 134,848,456 (GRCm39)	T14A	probably benign	Het
Scn9a	A	G	2: 66,314,261 (GRCm39)	V1819A	probably benign	Het
Senp1	T	C	15: 97,964,435 (GRCm39)	T260A	probably benign	Het
Serpinb10	A	G	1: 107,474,749 (GRCm39)	R304G	possibly damaging	Het
Spem1	C	T	11: 69,712,640 (GRCm39)	C65Y	probably benign	Het
Tdrd6	A	G	17: 43,939,053 (GRCm39)	V665A	possibly damaging	Het
Tenm2	C	T	11: 35,930,713 (GRCm39)	A1772T	probably damaging	Het
Tenm3	C	T	8: 48,752,690 (GRCm39)	V891I	probably damaging	Het
Trank1	A	G	9: 111,194,259 (GRCm39)	D761G	probably benign	Het
Tut7	T	C	13: 59,944,681 (GRCm39)	S1053G	probably damaging	Het
Ubap2l	A	T	3: 89,915,587 (GRCm39)	Y985N	unknown	Het
Vwc2l	A	T	1: 70,768,218 (GRCm39)	H94L	probably damaging	Het
Wdr27	G	A	17: 15,154,795 (GRCm39)	H41Y	probably benign	Het
Zfp7	AGTGCGGGAAAGGTTTCCACCTG	AG	15: 76,774,798 (GRCm39)		probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		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
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
R9714:Parvb	UTSW	15	84,167,041 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGTTTGACACAGCCTTTTGG -3'
(R):5'- TCTGCCACAGTTACAGGAAAC -3'

Sequencing Primer
(F):5'- CGATAGCCATCAGAGGAGGGTTTG -3'
(R):5'- CACAGAGAAGGGTCTAAGCAGCC -3'

Posted On

2022-04-18