Mutagenetix > Incidental Mutation

Incidental Mutation 'R7189:Parvb'

559517

Institutional Source

Beutler Lab

Gene Symbol

Parvb

Ensembl Gene

ENSMUSG00000022438

Gene Name

parvin, beta

Synonyms

affixin, D15Gsk1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84232043-84315688 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 84303471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023072 (fasta)

Gene Model

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

AlphaFold

Q9ES46

Predicted Effect

probably null
Transcript: ENSMUST00000023072

SMART Domains

Protein: ENSMUSP00000023072
Gene: ENSMUSG00000022438

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: 98.9%

Validation Efficiency

95% (57/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	G	T	2: 103,567,516	A264S	probably benign	Het
Atr	G	T	9: 95,862,791	E54*	probably null	Het
Bmp4	A	G	14: 46,383,999	S363P	probably damaging	Het
Cfap54	C	A	10: 92,937,728	A2077S	unknown	Het
Chrna7	T	C	7: 63,106,027	D257G	probably damaging	Het
Chrnd	C	T	1: 87,191,058	R46W	probably damaging	Het
Cntn2	A	G	1: 132,517,086	I851T	probably damaging	Het
Col3a1	T	A	1: 45,333,657	I534K	unknown	Het
Cyp3a25	A	T	5: 146,003,060	L46I	probably benign	Het
Dnah7b	G	C	1: 46,242,142	G2788R	probably damaging	Het
Dnpep	T	C	1: 75,313,430	E301G	probably damaging	Het
Efcab3	T	C	11: 105,095,864	S30P	probably benign	Het
Elk4	A	G	1: 132,019,389	I373V	probably damaging	Het
Fam161b	T	C	12: 84,348,646	S508G	probably damaging	Het
Fam198b	T	A	3: 79,886,807	L194*	probably null	Het
Fam214a	T	C	9: 75,004,351	C42R	probably damaging	Het
Fam71d	C	T	12: 78,712,208	P101S	probably benign	Het
Fgf10	A	G	13: 118,789,123	E146G	probably benign	Het
Fsip2	A	G	2: 82,993,237	D6438G	possibly damaging	Het
Gm3139	T	A	5: 94,537,751	Y423*	probably null	Het
Gm49355	T	A	14: 12,296,672	C10*	probably null	Het
Hfm1	A	G	5: 106,901,703		probably null	Het
Hivep3	T	C	4: 120,132,219	S1956P	probably damaging	Het
Hrh2	A	G	13: 54,221,251	S369G	unknown	Het
Hspg2	T	C	4: 137,533,561		probably null	Het
Hsph1	T	C	5: 149,630,460	Y181C	probably damaging	Het
Kcnh8	A	G	17: 52,894,117		probably null	Het
Kctd1	C	T	18: 15,062,643	E308K	possibly damaging	Het
Kdm8	A	T	7: 125,460,931	Y335F	probably damaging	Het
Kif2b	C	G	11: 91,577,137	G107R	probably benign	Het
Lama4	G	A	10: 38,965,733		probably benign	Het
Lepr	T	C	4: 101,814,764	V995A	probably benign	Het
Mfsd4a	A	T	1: 132,052,393	V375E	probably damaging	Het
Mgl2	G	T	11: 70,137,043	W359L	probably damaging	Het
Muc5b	C	A	7: 141,861,061	Y2581*	probably null	Het
Nol10	G	T	12: 17,373,561		probably null	Het
Olfr1297	T	A	2: 111,621,193	M294L	probably benign	Het
Olfr665	A	T	7: 104,881,141	K145*	probably null	Het
Otud3	C	T	4: 138,909,554	V99M	probably damaging	Het
Pclo	C	A	5: 14,521,918	P439Q	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431		probably benign	Het
Pkn1	A	T	8: 83,692,673	H100Q	possibly damaging	Het
Plce1	A	T	19: 38,760,137	I1771F	probably damaging	Het
Plxna2	G	T	1: 194,801,058	R1559L	possibly damaging	Het
Ppp2r3a	T	A	9: 101,126,422	I416L	possibly damaging	Het
Robo1	C	A	16: 72,960,151	C333*	probably null	Het
Ryr2	A	T	13: 11,883,123	Y129N	probably damaging	Het
Schip1	A	T	3: 68,617,699	K359M	probably damaging	Het
Schip1	G	T	3: 68,617,700	K359N	probably damaging	Het
Sh2d2a	T	A	3: 87,848,361	S65T	possibly damaging	Het
Ssrp1	G	A	2: 85,045,562	M588I	probably benign	Het
Stim2	T	A	5: 54,116,128	C567S	probably benign	Het
Syne1	C	A	10: 5,424,295	A171S	probably benign	Het
Tigd3	A	G	19: 5,893,022	S27P	probably benign	Het
Vipr1	C	A	9: 121,664,554	Q224K	probably damaging	Het
Vmn1r75	T	A	7: 11,880,548	M69K	possibly damaging	Het
Vmn2r72	T	G	7: 85,754,917	D22A	probably benign	Het
Zbtb24	G	A	10: 41,464,476	V523I	probably benign	Het
Zbtb43	A	G	2: 33,462,295	F20S	probably benign	Het

Other mutations in Parvb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01610:Parvb	APN	15	84303465	missense	probably damaging	1.00
IGL02415:Parvb	APN	15	84292815	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	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
R1470:Parvb	UTSW	15	84271308	missense	probably benign	0.00
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
R7285:Parvb	UTSW	15	84282784	missense	possibly damaging	0.94
R7492:Parvb	UTSW	15	84290450	missense	probably damaging	0.98
R9046:Parvb	UTSW	15	84290438	missense	probably benign	0.03
R9347:Parvb	UTSW	15	84271322	critical splice donor site	probably null
R9373:Parvb	UTSW	15	84303899	missense	probably damaging	0.98
R9714:Parvb	UTSW	15	84282840	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAACCAGAGAGGGCTATTTC -3'
(R):5'- AGGCTGTGTCAAACTCTAGGC -3'

Sequencing Primer
(F):5'- CCAGAGAGGGCTATTTCTAGAACTG -3'
(R):5'- GCTGTGTCAAACTCTAGGCTCTAG -3'

Posted On

2019-06-26