Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01317:Avpr1a'

73892

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Avpr1a

Ensembl Gene

ENSMUSG00000020123

Gene Name

arginine vasopressin receptor 1A

Synonyms

V1aR

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL01317

Quality Score

Status

Chromosome

Chromosomal Location

122284404-122289357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122285472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 255 (S255P)

Ref Sequence

ENSEMBL: ENSMUSP00000020323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020323]

AlphaFold

Q62463

Predicted Effect

probably benign
Transcript: ENSMUST00000020323
AA Change: S255P

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

SMART Domains

Protein: ENSMUSP00000020323
Gene: ENSMUSG00000020123
AA Change: S255P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	58	206	8.8e-10	PFAM
Pfam:7TM_GPCR_Srsx	62	362	6.1e-10	PFAM
Pfam:7tm_1	68	353	4.5e-49	PFAM
Pfam:7TM_GPCR_Srv	98	370	1.5e-10	PFAM
DUF1856	377	423	2e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219628

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a receptor for arginine vasopressin, a neurohypophyseal hormone involved in diuresis inhibition, smooth muscle contraction, liver glycogenolysis stimulation and regulation of adrenocorticotropic hormone release from the pituitary. This receptor represents one of three G protein-coupled arginine vasopressin receptors which functions through a phosphotidylinositol-calcium second messenger system in vascular and hepatic tissues [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a stimulus processing deficit similar to that seen in schizophrenia. Anxiety-like behaviors are reduced in males but not females. B cell development is also affected. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(2) Targeted, other(1)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 25,362,597 (GRCm39)	D609E	probably damaging	Het
Aldh3b1	T	C	19: 3,968,104 (GRCm39)	I352V	probably benign	Het
Apeh	A	T	9: 107,963,406 (GRCm39)	S605R	probably benign	Het
Arhgap32	A	G	9: 32,168,260 (GRCm39)	K748E	probably benign	Het
Cadps2	T	A	6: 23,314,172 (GRCm39)	D1124V	possibly damaging	Het
Cask	C	T	X: 13,388,499 (GRCm39)	E83K	probably damaging	Het
Cep170b	A	G	12: 112,704,078 (GRCm39)	Y670C	probably damaging	Het
Chd3	A	G	11: 69,244,037 (GRCm39)	Y1343H	probably damaging	Het
Cit	T	A	5: 116,046,775 (GRCm39)	V396D	probably benign	Het
Cldn18	T	C	9: 99,578,135 (GRCm39)	T203A	probably benign	Het
Dido1	A	C	2: 180,313,550 (GRCm39)	N907K	probably benign	Het
Dmbt1	T	A	7: 130,642,921 (GRCm39)	D246E	probably damaging	Het
Dph1	T	C	11: 75,071,486 (GRCm39)	H303R	probably benign	Het
Dspp	T	A	5: 104,321,914 (GRCm39)	Y8N	probably damaging	Het
Efhc2	C	T	X: 17,071,198 (GRCm39)		probably benign	Het
Fam171a1	T	A	2: 3,203,663 (GRCm39)	V215E	probably damaging	Het
Fhip1a	T	C	3: 85,580,153 (GRCm39)	D684G	probably benign	Het
Foxm1	T	A	6: 128,344,316 (GRCm39)	M22K	probably damaging	Het
Gdpd4	A	C	7: 97,647,465 (GRCm39)	M371L	possibly damaging	Het
Hdac9	T	C	12: 34,479,488 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,413,908 (GRCm39)	W162R	probably damaging	Het
Hydin	A	T	8: 111,053,078 (GRCm39)	D250V	probably damaging	Het
Itga4	T	A	2: 79,153,005 (GRCm39)	C897*	probably null	Het
Itprid1	G	T	6: 55,944,790 (GRCm39)	A504S	possibly damaging	Het
Kcnd2	T	C	6: 21,727,339 (GRCm39)	*631Q	probably null	Het
Kcnn2	A	G	18: 45,693,694 (GRCm39)		probably null	Het
Lama1	A	T	17: 68,125,696 (GRCm39)	E2951V	probably damaging	Het
Lyst	A	G	13: 13,845,455 (GRCm39)	Q1944R	probably benign	Het
Mmp14	A	G	14: 54,673,247 (GRCm39)	T52A	possibly damaging	Het
Mrgpra1	A	T	7: 46,985,372 (GRCm39)	N102K	probably benign	Het
Mrpl28	G	A	17: 26,344,489 (GRCm39)	G205D	probably damaging	Het
Mtmr4	T	C	11: 87,493,230 (GRCm39)		probably benign	Het
Oog2	A	G	4: 143,921,837 (GRCm39)	N249S	probably benign	Het
Or4f57	T	A	2: 111,790,620 (GRCm39)	H266L	possibly damaging	Het
Ppp6r2	T	A	15: 89,170,131 (GRCm39)	V882E	possibly damaging	Het
Qser1	A	C	2: 104,617,324 (GRCm39)	Y1073D	probably damaging	Het
Rbl2	C	A	8: 91,826,685 (GRCm39)	D480E	probably damaging	Het
Rfx7	G	A	9: 72,525,818 (GRCm39)	G1003S	probably damaging	Het
Rrh	A	C	3: 129,616,074 (GRCm39)	F20V	possibly damaging	Het
Rwdd3	A	G	3: 120,965,282 (GRCm39)	I15T	possibly damaging	Het
Sestd1	A	T	2: 77,022,889 (GRCm39)	M493K	possibly damaging	Het
Slc17a8	T	A	10: 89,456,666 (GRCm39)	L32F	probably benign	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Tbc1d10a	A	T	11: 4,162,826 (GRCm39)	Y223F	probably benign	Het
Tbx20	A	G	9: 24,681,051 (GRCm39)	V147A	probably damaging	Het
Tmem63c	A	T	12: 87,118,770 (GRCm39)		probably benign	Het
Tmtc2	C	A	10: 105,249,646 (GRCm39)	R29L	probably damaging	Het
Ttc21b	T	A	2: 66,018,700 (GRCm39)	M1236L	probably benign	Het
Unc119	T	A	11: 78,238,052 (GRCm39)	C12S	probably damaging	Het
Vcan	A	G	13: 89,839,787 (GRCm39)	M1919T	probably benign	Het
Zmat4	C	A	8: 24,392,185 (GRCm39)	T47K	probably benign	Het

Other mutations in Avpr1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Avpr1a	APN	10	122,285,256 (GRCm39)	missense	probably benign
IGL01062:Avpr1a	APN	10	122,285,434 (GRCm39)	missense	probably damaging	0.99
IGL01813:Avpr1a	APN	10	122,284,916 (GRCm39)	missense	probably damaging	1.00
IGL01947:Avpr1a	APN	10	122,288,087 (GRCm39)	missense	probably benign	0.00
IGL02549:Avpr1a	APN	10	122,288,069 (GRCm39)	missense	possibly damaging	0.91
IGL02967:Avpr1a	APN	10	122,285,367 (GRCm39)	missense	possibly damaging	0.95
IGL03114:Avpr1a	APN	10	122,285,623 (GRCm39)	missense	probably damaging	0.99
H8786:Avpr1a	UTSW	10	122,285,373 (GRCm39)	missense	probably benign	0.01
R0211:Avpr1a	UTSW	10	122,285,374 (GRCm39)	missense	possibly damaging	0.54
R0268:Avpr1a	UTSW	10	122,285,614 (GRCm39)	missense	probably damaging	1.00
R1188:Avpr1a	UTSW	10	122,284,824 (GRCm39)	missense	possibly damaging	0.85
R1909:Avpr1a	UTSW	10	122,288,113 (GRCm39)	missense	probably benign
R1935:Avpr1a	UTSW	10	122,285,695 (GRCm39)	critical splice donor site	probably null
R2404:Avpr1a	UTSW	10	122,285,115 (GRCm39)	missense	possibly damaging	0.78
R3707:Avpr1a	UTSW	10	122,285,014 (GRCm39)	missense	probably damaging	1.00
R3927:Avpr1a	UTSW	10	122,285,616 (GRCm39)	missense	probably benign	0.00
R4722:Avpr1a	UTSW	10	122,284,906 (GRCm39)	missense	possibly damaging	0.62
R4952:Avpr1a	UTSW	10	122,285,659 (GRCm39)	missense	probably damaging	0.98
R5384:Avpr1a	UTSW	10	122,285,274 (GRCm39)	missense	probably damaging	1.00
R5807:Avpr1a	UTSW	10	122,285,376 (GRCm39)	missense	probably benign	0.14
R6024:Avpr1a	UTSW	10	122,285,053 (GRCm39)	missense	probably damaging	0.99
R7043:Avpr1a	UTSW	10	122,285,586 (GRCm39)	missense	probably damaging	1.00
R7359:Avpr1a	UTSW	10	122,285,283 (GRCm39)	missense	possibly damaging	0.70
R7455:Avpr1a	UTSW	10	122,285,169 (GRCm39)	missense	probably damaging	1.00
R9225:Avpr1a	UTSW	10	122,285,466 (GRCm39)	missense	probably benign	0.17
R9695:Avpr1a	UTSW	10	122,284,845 (GRCm39)	missense	probably damaging	1.00
Z1088:Avpr1a	UTSW	10	122,285,482 (GRCm39)	missense	probably benign	0.01

Posted On

2013-10-07