Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01934:Parva'

180562

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Parva

Ensembl Gene

ENSMUSG00000030770

Gene Name

parvin, alpha

Synonyms

2010012A22Rik, actopaxin, CH-ILKBP, 5430400F08Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

112027102-112190899 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 112187760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 352 (C352*)

Ref Sequence

ENSEMBL: ENSMUSP00000102254 (fasta)

Gene Model

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

AlphaFold

Q9EPC1

Predicted Effect

probably null
Transcript: ENSMUST00000033030
AA Change: C352*

SMART Domains

Protein: ENSMUSP00000033030
Gene: ENSMUSG00000030770
AA Change: C352*

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 null
Transcript: ENSMUST00000106640
AA Change: C316*

SMART Domains

Protein: ENSMUSP00000102251
Gene: ENSMUSG00000030770
AA Change: C316*

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

Predicted Effect

probably null
Transcript: ENSMUST00000106643
AA Change: C352*

SMART Domains

Protein: ENSMUSP00000102254
Gene: ENSMUSG00000030770
AA Change: C352*

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

Coding Region Coverage

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,112 (GRCm39)	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 90,852,753 (GRCm39)	T128S	probably damaging	Het
Aars1	T	A	8: 111,774,650 (GRCm39)	I593N	probably damaging	Het
Abca6	A	T	11: 110,079,481 (GRCm39)	N1224K	probably benign	Het
Abcc5	A	T	16: 20,241,191 (GRCm39)		probably benign	Het
Adam7	A	G	14: 68,770,048 (GRCm39)	L35P	probably damaging	Het
Ahnak	T	A	19: 8,980,021 (GRCm39)	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,394,451 (GRCm39)	E620G	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,695 (GRCm39)	I568F	probably damaging	Het
Ap3d1	A	T	10: 80,545,092 (GRCm39)	L1082*	probably null	Het
Atp6v0a4	T	A	6: 38,028,481 (GRCm39)	I712F	possibly damaging	Het
Bco1	T	A	8: 117,822,784 (GRCm39)	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,285,729 (GRCm39)	S794C	probably damaging	Het
Camk2d	T	C	3: 126,628,304 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,181,998 (GRCm39)	T604A	probably damaging	Het
Cd180	A	T	13: 102,839,366 (GRCm39)	D83V	probably damaging	Het
Ces1a	C	A	8: 93,759,278 (GRCm39)	R286L	probably damaging	Het
Col6a6	A	G	9: 105,575,858 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,773,202 (GRCm39)	V148A	probably benign	Het
Epas1	A	T	17: 87,131,157 (GRCm39)	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,712,618 (GRCm39)	S148G	probably damaging	Het
Fig4	T	C	10: 41,104,108 (GRCm39)	T791A	probably benign	Het
Galnt9	A	T	5: 110,750,502 (GRCm39)	I340F	possibly damaging	Het
Gfap	G	A	11: 102,785,286 (GRCm39)	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm454	T	C	5: 138,205,424 (GRCm39)		noncoding transcript	Het
Il24	A	T	1: 130,811,614 (GRCm39)	L115Q	probably damaging	Het
Ipp	C	A	4: 116,367,852 (GRCm39)	N28K	probably damaging	Het
Kalrn	A	T	16: 34,018,882 (GRCm39)		probably null	Het
Klf10	C	T	15: 38,297,528 (GRCm39)	V171M	probably benign	Het
Man1b1	T	C	2: 25,235,523 (GRCm39)	S350P	probably benign	Het
Mfsd4a	T	C	1: 131,974,049 (GRCm39)	Y343C	probably damaging	Het
Mrpl58	C	A	11: 115,301,555 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,134,394 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,339,880 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,696 (GRCm39)		probably benign	Het
Or1o2	A	T	17: 37,542,439 (GRCm39)	V274D	probably damaging	Het
Or52z14	T	C	7: 103,253,182 (GRCm39)	F107S	probably damaging	Het
Or5p69	A	G	7: 107,967,368 (GRCm39)	I224V	probably damaging	Het
Ptf1a	T	A	2: 19,451,431 (GRCm39)	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,164,272 (GRCm39)	R1062L	probably benign	Het
Rnf44	A	G	13: 54,829,763 (GRCm39)	V407A	probably damaging	Het
Shank3	T	C	15: 89,434,049 (GRCm39)	L1598P	probably damaging	Het
Slit2	T	C	5: 48,395,747 (GRCm39)	S717P	possibly damaging	Het
Tdpoz4	A	G	3: 93,704,779 (GRCm39)	K359E	probably damaging	Het
Tmtc4	A	T	14: 123,165,047 (GRCm39)	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,376,078 (GRCm39)	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,752,747 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,575,019 (GRCm39)	L382M	probably benign	Het
Tut1	T	C	19: 8,931,355 (GRCm39)	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,708,424 (GRCm39)	S229P	probably benign	Het
Usp22	T	C	11: 61,046,114 (GRCm39)	E476G	probably damaging	Het
Vill	G	T	9: 118,895,877 (GRCm39)	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,593,362 (GRCm39)	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,717,833 (GRCm39)	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,296,768 (GRCm39)		probably null	Het
Zfp236	A	T	18: 82,651,245 (GRCm39)	V889E	probably damaging	Het
Zscan20	T	C	4: 128,486,277 (GRCm39)	D141G	possibly damaging	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
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
R0331:Parva	UTSW	7	112,144,005 (GRCm39)	missense	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

Posted On

2014-05-07