Mutagenetix > Incidental Mutation

Incidental Mutation 'R0331:Parva'

26055

Institutional Source

Beutler Lab

Gene Symbol

Parva

Ensembl Gene

ENSMUSG00000030770

Gene Name

parvin, alpha

Synonyms

2010012A22Rik, actopaxin, CH-ILKBP, 5430400F08Rik

MMRRC Submission

038540-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112027102-112190899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112144005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 98 (M98V)

Ref Sequence

ENSEMBL: ENSMUSP00000102254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033030] [ENSMUST00000106640] [ENSMUST00000106643] [ENSMUST00000139720]

AlphaFold

Q9EPC1

Predicted Effect

probably benign
Transcript: ENSMUST00000033030
AA Change: M98V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033030
Gene: ENSMUSG00000030770
AA Change: M98V

Domain	Start	End	E-Value	Type
low complexity region	7	28	N/A	INTRINSIC
CH	97	197	3.61e-1	SMART
CH	264	367	6.69e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106640
AA Change: M62V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102251
Gene: ENSMUSG00000030770
AA Change: M62V

Domain	Start	End	E-Value	Type
CH	61	161	3.61e-1	SMART
CH	228	331	6.69e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106643
AA Change: M98V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102254
Gene: ENSMUSG00000030770
AA Change: M98V

Domain	Start	End	E-Value	Type
low complexity region	7	28	N/A	INTRINSIC
CH	97	197	3.61e-1	SMART
CH	264	367	6.69e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139720

SMART Domains

Protein: ENSMUSP00000118587
Gene: ENSMUSG00000030770

Domain	Start	End	E-Value	Type
low complexity region	7	28	N/A	INTRINSIC

Meta Mutation Damage Score

0.0577

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (81/81)

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. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010]
PHENOTYPE: Embryos homozygous for a null allele are growth retarded and die prior to E14.5 exhibiting abnormal cardiac morphogenesis, severe vascular defects, edema, microaneurysms, hemorrhage, and severe kidney dysgenesis or agenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	A	8: 79,956,021 (GRCm39)	T79S	probably benign	Het
Abtb1	T	C	6: 88,817,684 (GRCm39)		probably benign	Het
Acot12	G	A	13: 91,908,183 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,078,541 (GRCm39)	S54T	probably benign	Het
Adgrl4	T	C	3: 151,203,577 (GRCm39)	S96P	probably benign	Het
Aip	G	T	19: 4,168,247 (GRCm39)	T40K	probably damaging	Het
Anapc4	A	G	5: 53,012,984 (GRCm39)		probably benign	Het
Asz1	A	G	6: 18,103,618 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,538,161 (GRCm39)	T465A	possibly damaging	Het
Atp11a	C	T	8: 12,866,953 (GRCm39)	Q127*	probably null	Het
Axin1	A	G	17: 26,362,081 (GRCm39)	R142G	probably damaging	Het
Bcat1	T	A	6: 144,993,040 (GRCm39)	E86V	probably benign	Het
Brd4	G	A	17: 32,421,489 (GRCm39)	P749L	probably benign	Het
C1ra	G	A	6: 124,496,394 (GRCm39)		probably null	Het
Capza2	A	T	6: 17,665,102 (GRCm39)	N237I	probably benign	Het
Cd2ap	A	T	17: 43,116,192 (GRCm39)	V556E	probably benign	Het
Cfap65	G	A	1: 74,968,460 (GRCm39)	P124L	probably damaging	Het
Cfap65	G	T	1: 74,968,461 (GRCm39)	P124T	probably damaging	Het
Cftr	T	C	6: 18,235,225 (GRCm39)	V488A	possibly damaging	Het
Ckmt1	A	T	2: 121,193,337 (GRCm39)		probably null	Het
Cmya5	T	G	13: 93,280,911 (GRCm39)	E35A	possibly damaging	Het
Col7a1	A	G	9: 108,796,570 (GRCm39)		probably benign	Het
Crmp1	C	T	5: 37,422,657 (GRCm39)	L155F	possibly damaging	Het
Cyp2d10	T	A	15: 82,291,227 (GRCm39)	T33S	probably benign	Het
Dhdh	T	C	7: 45,137,544 (GRCm39)	K48E	probably benign	Het
Dlst	T	C	12: 85,165,586 (GRCm39)	V103A	probably damaging	Het
Dohh	C	T	10: 81,223,646 (GRCm39)	T233I	probably benign	Het
Dvl2	C	A	11: 69,897,043 (GRCm39)		probably benign	Het
Eipr1	C	T	12: 28,914,703 (GRCm39)	Q286*	probably null	Het
Enpp6	C	A	8: 47,535,484 (GRCm39)	T343K	probably damaging	Het
Fbxw11	T	A	11: 32,661,895 (GRCm39)	F112I	probably damaging	Het
Gdpd4	T	A	7: 97,622,215 (GRCm39)	N231K	probably benign	Het
Gm6370	A	T	5: 146,430,576 (GRCm39)	T254S	probably benign	Het
Hapln4	G	T	8: 70,537,159 (GRCm39)	Q31H	probably damaging	Het
Hic1	T	A	11: 75,056,316 (GRCm39)	T858S	possibly damaging	Het
Isg20l2	T	C	3: 87,839,092 (GRCm39)	L101P	probably damaging	Het
Itga10	T	C	3: 96,559,799 (GRCm39)	Y485H	probably damaging	Het
Itgal	T	A	7: 126,905,853 (GRCm39)		probably null	Het
Itln1	T	C	1: 171,359,117 (GRCm39)	N62S	probably damaging	Het
Kdm4b	T	C	17: 56,693,289 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,226,479 (GRCm39)		probably benign	Het
Lman2	A	T	13: 55,500,829 (GRCm39)	H123Q	probably damaging	Het
Lztr1	T	A	16: 17,342,101 (GRCm39)		probably benign	Het
Myo3b	G	T	2: 69,925,605 (GRCm39)	G24V	probably damaging	Het
Nacad	T	A	11: 6,549,441 (GRCm39)	Q1250L	possibly damaging	Het
Ncor2	A	T	5: 125,161,981 (GRCm39)	M431K	unknown	Het
Nek9	T	A	12: 85,374,149 (GRCm39)		probably benign	Het
Neu1	C	A	17: 35,153,146 (GRCm39)	N255K	possibly damaging	Het
Nf2	T	A	11: 4,744,914 (GRCm39)	T75S	probably benign	Het
Nipal4	T	A	11: 46,041,040 (GRCm39)	D385V	probably damaging	Het
Olah	T	A	2: 3,343,511 (GRCm39)	N245I	probably damaging	Het
Or5p54	G	T	7: 107,554,077 (GRCm39)	L76F	probably benign	Het
Pag1	T	A	3: 9,767,030 (GRCm39)	T90S	probably benign	Het
Pald1	A	G	10: 61,176,708 (GRCm39)		probably null	Het
Paxbp1	T	A	16: 90,834,255 (GRCm39)	D177V	possibly damaging	Het
Paxip1	A	G	5: 27,970,230 (GRCm39)	I587T	probably damaging	Het
Pclo	T	C	5: 14,730,390 (GRCm39)		probably benign	Het
Pdgfra	T	A	5: 75,355,713 (GRCm39)	D1074E	probably damaging	Het
Pef1	A	T	4: 130,021,241 (GRCm39)	D265V	probably damaging	Het
Plekhh2	G	A	17: 84,893,794 (GRCm39)	E870K	possibly damaging	Het
Plscr4	G	A	9: 92,364,695 (GRCm39)	G40D	probably damaging	Het
Psg18	A	G	7: 18,087,233 (GRCm39)	Y142H	probably benign	Het
Ptchd3	A	T	11: 121,733,017 (GRCm39)	M636L	probably benign	Het
Rab2a	A	G	4: 8,572,559 (GRCm39)	D51G	probably benign	Het
Rnf139	T	A	15: 58,771,755 (GRCm39)	D593E	probably benign	Het
Septin7	A	G	9: 25,217,552 (GRCm39)	N422S	probably benign	Het
Shprh	T	C	10: 11,069,914 (GRCm39)		probably benign	Het
Slc7a6os	A	G	8: 106,937,199 (GRCm39)	I87T	probably damaging	Het
Slc7a7	A	G	14: 54,615,381 (GRCm39)		probably benign	Het
Spc24	G	T	9: 21,668,609 (GRCm39)	N129K	possibly damaging	Het
Strip2	C	T	6: 29,926,559 (GRCm39)	T148I	probably benign	Het
Tmem150c	A	C	5: 100,234,132 (GRCm39)		probably null	Het
Trav13-5	A	G	14: 54,033,205 (GRCm39)	N38S	probably benign	Het
Ttn	G	T	2: 76,641,364 (GRCm39)	Y11801*	probably null	Het
Usp37	A	T	1: 74,493,223 (GRCm39)	L688*	probably null	Het
Usp38	T	C	8: 81,722,469 (GRCm39)	I351V	probably benign	Het
Vav2	T	A	2: 27,186,187 (GRCm39)	M223L	probably benign	Het
Wdr36	A	G	18: 32,985,968 (GRCm39)	I557M	possibly damaging	Het
Wwc2	A	T	8: 48,333,239 (GRCm39)	M259K	probably benign	Het
Znfx1	G	A	2: 166,888,898 (GRCm39)	S770L	probably benign	Het

Other mutations in Parva

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Parva	APN	7	112,176,217 (GRCm39)	splice site	probably benign
IGL01934:Parva	APN	7	112,187,760 (GRCm39)	nonsense	probably null
IGL02280:Parva	APN	7	112,159,226 (GRCm39)	missense	probably benign	0.01
IGL02623:Parva	APN	7	112,175,646 (GRCm39)	missense	probably damaging	1.00
IGL03177:Parva	APN	7	112,172,140 (GRCm39)	splice site	probably benign
R0620:Parva	UTSW	7	112,175,618 (GRCm39)	missense	probably damaging	0.99
R0815:Parva	UTSW	7	112,167,071 (GRCm39)	missense	probably damaging	0.99
R2143:Parva	UTSW	7	112,159,274 (GRCm39)	missense	possibly damaging	0.83
R5355:Parva	UTSW	7	112,143,475 (GRCm39)	critical splice donor site	probably null
R5379:Parva	UTSW	7	112,178,927 (GRCm39)	missense	probably benign	0.44
R5588:Parva	UTSW	7	112,159,269 (GRCm39)	missense	possibly damaging	0.72
R5602:Parva	UTSW	7	112,166,972 (GRCm39)	missense	probably benign	0.00
R5896:Parva	UTSW	7	112,143,960 (GRCm39)	missense	probably benign	0.03
R6878:Parva	UTSW	7	112,175,656 (GRCm39)	missense	possibly damaging	0.63
R8882:Parva	UTSW	7	112,027,211 (GRCm39)	missense	probably benign	0.10
R9598:Parva	UTSW	7	112,187,753 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTCTCCCCAACCAGTTAGGCCG -3'
(R):5'- GACAGGCTTTGAGCAGAAAGACACT -3'

Sequencing Primer
(F):5'- GAAgctgctttcaacctctgtg -3'
(R):5'- attcttctgcctccacttcc -3'

Posted On

2013-04-16