Mutagenetix > Incidental Mutation

Incidental Mutation 'R6492:Parvb'

523012

Institutional Source

Beutler Lab

Gene Symbol

Parvb

Ensembl Gene

ENSMUSG00000022438

Gene Name

parvin, beta

Synonyms

D15Gsk1, affixin

MMRRC Submission

044624-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6492 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84116244-84199889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84188073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 272 (L272P)

Ref Sequence

ENSEMBL: ENSMUSP00000023072 (fasta)

Gene Model

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

AlphaFold

Q9ES46

Predicted Effect

probably damaging
Transcript: ENSMUST00000023072
AA Change: L272P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023072
Gene: ENSMUSG00000022438
AA Change: L272P

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

Meta Mutation Damage Score

0.9028

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

100% (60/60)

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
A2m	C	T	6: 121,631,464 (GRCm39)	T587I	probably benign	Het
Abl1	T	A	2: 31,691,667 (GRCm39)	M1062K	probably benign	Het
Agbl4	G	A	4: 111,404,469 (GRCm39)	D272N	probably damaging	Het
Apob	A	T	12: 8,058,261 (GRCm39)	I2215F	probably damaging	Het
Atp10b	A	T	11: 43,109,784 (GRCm39)	Q821H	probably damaging	Het
Atp1a3	T	C	7: 24,678,729 (GRCm39)	Y971C	probably damaging	Het
Atp6ap1l	A	T	13: 91,031,841 (GRCm39)	H280Q	probably damaging	Het
B4galt2	A	T	4: 117,734,164 (GRCm39)	M291K	probably damaging	Het
Cachd1	G	T	4: 100,809,315 (GRCm39)	V267F	possibly damaging	Het
Cadm2	G	T	16: 66,581,715 (GRCm39)	L188M	probably damaging	Het
Ccn6	C	T	10: 39,030,983 (GRCm39)	G180D	probably benign	Het
Ceacam19	T	C	7: 19,616,517 (GRCm39)	N199S	probably benign	Het
Chrna5	A	G	9: 54,905,347 (GRCm39)	D53G	probably benign	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Cluap1	T	A	16: 3,746,476 (GRCm39)	M279K	probably benign	Het
Cngb1	T	A	8: 95,991,052 (GRCm39)	M717L	probably benign	Het
Cp	T	C	3: 20,036,186 (GRCm39)	V777A	probably benign	Het
Drosha	A	G	15: 12,861,792 (GRCm39)	D594G	probably benign	Het
Exo5	A	G	4: 120,778,734 (GRCm39)		probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gprc5b	A	G	7: 118,583,800 (GRCm39)	I23T	possibly damaging	Het
Ikbke	T	C	1: 131,186,955 (GRCm39)	Y579C	probably damaging	Het
Ikzf2	T	C	1: 69,578,201 (GRCm39)	Y362C	probably damaging	Het
Itfg1	A	G	8: 86,466,978 (GRCm39)	V365A	probably benign	Het
Josd2	T	C	7: 44,120,578 (GRCm39)	I105T	probably damaging	Het
Mc3r	G	A	2: 172,091,074 (GRCm39)	A99T	possibly damaging	Het
Mettl22	T	A	16: 8,306,755 (GRCm39)		probably null	Het
Mgat5	A	G	1: 127,399,301 (GRCm39)	I619V	probably benign	Het
Nin	T	C	12: 70,101,308 (GRCm39)	I430V	probably benign	Het
Or52n2c	C	A	7: 104,574,852 (GRCm39)	A40S	possibly damaging	Het
Or5au1	A	G	14: 52,272,902 (GRCm39)	F222S	probably benign	Het
Or5j3	T	C	2: 86,128,990 (GRCm39)	F277L	probably benign	Het
Or5w22	C	G	2: 87,363,085 (GRCm39)	A236G	possibly damaging	Het
Or8k3	T	A	2: 86,058,731 (GRCm39)	I195F	possibly damaging	Het
Pde2a	A	G	7: 101,149,649 (GRCm39)	K180E	possibly damaging	Het
Pik3c3	C	T	18: 30,457,615 (GRCm39)	T736M	probably damaging	Het
Plcb4	C	T	2: 135,814,991 (GRCm39)	R760*	probably null	Het
Pramel6	C	T	2: 87,340,766 (GRCm39)	T366I	probably benign	Het
Prr29	C	T	11: 106,266,062 (GRCm39)	R42W	probably damaging	Het
Prss12	A	G	3: 123,241,048 (GRCm39)	I81V	probably benign	Het
Ptpn13	A	G	5: 103,649,478 (GRCm39)	T294A	probably benign	Het
Ptprc	A	T	1: 138,041,300 (GRCm39)		probably null	Het
Sin3b	T	A	8: 73,460,118 (GRCm39)		probably null	Het
Slco5a1	T	C	1: 13,060,151 (GRCm39)	Y190C	probably damaging	Het
Slco6c1	T	G	1: 97,053,538 (GRCm39)	Y121S	probably damaging	Het
Srcap	G	T	7: 127,121,317 (GRCm39)	G217*	probably null	Het
Ss18	A	T	18: 14,784,145 (GRCm39)	M181K	probably damaging	Het
Synm	T	C	7: 67,385,809 (GRCm39)	T176A	probably benign	Het
Taf3	T	C	2: 9,955,971 (GRCm39)	E579G	probably damaging	Het
Taf7	A	G	18: 37,776,159 (GRCm39)	I136T	probably damaging	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Tyrp1	A	G	4: 80,759,018 (GRCm39)	D297G	probably null	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Wwp1	G	A	4: 19,650,299 (GRCm39)	S289L	possibly damaging	Het
Xbp1	T	C	11: 5,471,005 (GRCm39)	V4A	probably benign	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb2	T	C	10: 4,319,711 (GRCm39)	Y105C	probably damaging	Het
Zeb2	T	C	2: 45,000,508 (GRCm39)		probably benign	Het
Zkscan8	A	T	13: 21,709,397 (GRCm39)	I167N	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
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'- GAGTTTGACACAGCCTTTTGG -3'
(R):5'- GTCTGCCACAGTTACAGGAAAC -3'

Sequencing Primer
(F):5'- AGGGTTTGGAGTATGCCA -3'
(R):5'- AGGGTCTAAGCAGCCAGC -3'

Posted On

2018-06-06