Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02516:Avpr1b'

296783

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Avpr1b

Ensembl Gene

ENSMUSG00000026432

Gene Name

arginine vasopressin receptor 1B

Synonyms

VPR3, AVPR3, V3/V1b pituitary vasopressin receptor, V3/V1b, V1BR, V1bR

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL02516

Quality Score

Status

Chromosome

Chromosomal Location

131526977-131539738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 131528367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 297 (V297I)

Ref Sequence

ENSEMBL: ENSMUSP00000027690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027690] [ENSMUST00000190410]

AlphaFold

Q9WU02

Predicted Effect

probably damaging
Transcript: ENSMUST00000027690
AA Change: V297I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027690
Gene: ENSMUSG00000026432
AA Change: V297I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	41	223	1.1e-6	PFAM
Pfam:7TM_GPCR_Srsx	45	342	4.4e-7	PFAM
Pfam:7tm_1	51	335	1.6e-50	PFAM
Pfam:7TM_GPCR_Srv	106	352	8.2e-7	PFAM
DUF1856	359	411	1.6e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190410

SMART Domains

Protein: ENSMUSP00000140527
Gene: ENSMUSG00000026432

Domain	Start	End	E-Value	Type
Pfam:7tm_1	51	121	8.5e-6	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice for one allele display dysregulation of the hypothalamic-pituitary-adrenal axis activity under stress and resting conditions. Homozygous null mice for other alleles display decreased aggression or an increased propensity for seizures. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(4) Targeted, other(1)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	C	T	8: 25,388,612 (GRCm39)	S364N	probably damaging	Het
Ano8	C	T	8: 71,937,721 (GRCm39)	G47D	probably damaging	Het
App	T	C	16: 84,752,305 (GRCm39)	T743A	probably damaging	Het
Armc3	A	G	2: 19,305,317 (GRCm39)	K692E	possibly damaging	Het
Arpp21	T	C	9: 112,014,729 (GRCm39)	N25S	probably damaging	Het
Bpi	A	G	2: 158,109,651 (GRCm39)	I200V	possibly damaging	Het
Cacna2d4	C	T	6: 119,248,831 (GRCm39)		probably benign	Het
Cbarp	A	G	10: 79,971,379 (GRCm39)	Y149H	probably damaging	Het
Ccdc85c	T	C	12: 108,241,160 (GRCm39)	N78S	unknown	Het
Cdcp1	G	T	9: 123,002,702 (GRCm39)	L790M	possibly damaging	Het
Cdkn2d	T	A	9: 21,200,439 (GRCm39)	I111F	probably benign	Het
Ctsr	A	G	13: 61,310,992 (GRCm39)	V18A	probably benign	Het
Dapk1	A	G	13: 60,844,161 (GRCm39)	D60G	probably damaging	Het
Daw1	A	C	1: 83,186,949 (GRCm39)	N253T	probably benign	Het
Dcaf7	T	A	11: 105,942,698 (GRCm39)	I215N	probably damaging	Het
Ddc	A	C	11: 11,779,125 (GRCm39)	L333R	probably damaging	Het
Dennd1a	A	G	2: 37,742,406 (GRCm39)		probably null	Het
Dnah10	C	A	5: 124,864,395 (GRCm39)	T2200K	probably damaging	Het
Dock6	T	C	9: 21,713,881 (GRCm39)	Y1883C	probably damaging	Het
Ecpas	T	C	4: 58,877,102 (GRCm39)	E111G	probably damaging	Het
Eif2ak4	T	A	2: 118,266,735 (GRCm39)	I752N	probably damaging	Het
Fcho2	A	G	13: 98,866,720 (GRCm39)	I740T	probably benign	Het
Flnc	A	G	6: 29,450,840 (GRCm39)	D1496G	probably damaging	Het
Fn1	A	G	1: 71,676,482 (GRCm39)	V583A	possibly damaging	Het
Greb1l	A	C	18: 10,537,064 (GRCm39)	T1010P	probably benign	Het
Hs3st6	T	C	17: 24,977,105 (GRCm39)	L195P	probably damaging	Het
Hyi	A	G	4: 118,219,680 (GRCm39)	E239G	probably damaging	Het
Ighv2-3	G	T	12: 113,574,818 (GRCm39)	Y112*	probably null	Het
Ints3	A	G	3: 90,310,415 (GRCm39)	F495S	probably damaging	Het
Itih2	T	A	2: 10,102,728 (GRCm39)	H802L	probably benign	Het
Jag2	C	T	12: 112,874,186 (GRCm39)	V990M	probably damaging	Het
Kat6b	T	C	14: 21,659,936 (GRCm39)		probably benign	Het
Krtap4-8	C	T	11: 99,671,168 (GRCm39)		probably benign	Het
Lhx4	A	G	1: 155,578,003 (GRCm39)	S380P	probably damaging	Het
Morn3	C	A	5: 123,175,363 (GRCm39)	E33*	probably null	Het
Mug2	C	T	6: 122,047,802 (GRCm39)	A771V	probably damaging	Het
N4bp3	A	T	11: 51,535,161 (GRCm39)	S343T	probably benign	Het
Nlrp1a	T	C	11: 71,005,286 (GRCm39)	N643S	probably damaging	Het
Or2c1	A	C	16: 3,657,200 (GRCm39)	D121A	probably damaging	Het
Or2h1b	T	A	17: 37,462,163 (GRCm39)	R79S	possibly damaging	Het
Or6c8	T	A	10: 128,915,662 (GRCm39)	M57L	possibly damaging	Het
Phc3	A	G	3: 31,002,942 (GRCm39)	F192S	probably damaging	Het
Pigq	C	T	17: 26,156,221 (GRCm39)	R69H	probably benign	Het
Plk3	A	G	4: 116,989,186 (GRCm39)	C222R	probably damaging	Het
Pomt2	T	C	12: 87,166,420 (GRCm39)	T490A	probably benign	Het
Prss29	T	C	17: 25,539,875 (GRCm39)	I91T	probably damaging	Het
Ralgapb	A	T	2: 158,307,735 (GRCm39)		probably benign	Het
Sccpdh	G	A	1: 179,509,256 (GRCm39)	G75D	probably damaging	Het
Serpine2	T	C	1: 79,772,714 (GRCm39)		probably benign	Het
Sfr1	T	G	19: 47,721,429 (GRCm39)		probably null	Het
Slc22a23	C	A	13: 34,387,938 (GRCm39)	C386F	probably benign	Het
Slc22a27	T	C	19: 7,842,176 (GRCm39)	K433R	probably damaging	Het
Slc39a12	T	C	2: 14,405,146 (GRCm39)	L246P	probably damaging	Het
Slc4a11	A	G	2: 130,533,313 (GRCm39)	I191T	possibly damaging	Het
Slc9c1	A	G	16: 45,398,238 (GRCm39)	N668D	probably damaging	Het
Supt16	A	T	14: 52,421,421 (GRCm39)	D41E	possibly damaging	Het
Tamalin	G	A	15: 101,126,932 (GRCm39)	V137I	probably damaging	Het
Ugt2b37	A	G	5: 87,388,741 (GRCm39)	S491P	probably damaging	Het
Urb1	G	T	16: 90,569,583 (GRCm39)	T1381N	possibly damaging	Het
Usp8	A	G	2: 126,584,094 (GRCm39)	I423M	probably benign	Het
Vmn1r191	T	A	13: 22,363,710 (GRCm39)	I15F	probably benign	Het
Zbtb5	A	T	4: 44,993,798 (GRCm39)	Y529N	probably damaging	Het
Zfp541	T	A	7: 15,816,918 (GRCm39)		probably null	Het

Other mutations in Avpr1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Avpr1b	APN	1	131,527,885 (GRCm39)	missense	probably damaging	1.00
IGL02708:Avpr1b	APN	1	131,528,389 (GRCm39)	missense	probably damaging	1.00
IGL03122:Avpr1b	APN	1	131,528,257 (GRCm39)	missense	probably damaging	1.00
R0058:Avpr1b	UTSW	1	131,527,524 (GRCm39)	missense	probably benign	0.04
R0058:Avpr1b	UTSW	1	131,527,524 (GRCm39)	missense	probably benign	0.04
R0654:Avpr1b	UTSW	1	131,527,480 (GRCm39)	start codon destroyed	probably null	0.98
R0690:Avpr1b	UTSW	1	131,528,019 (GRCm39)	missense	probably damaging	0.99
R1470:Avpr1b	UTSW	1	131,528,323 (GRCm39)	missense	probably damaging	1.00
R1470:Avpr1b	UTSW	1	131,528,323 (GRCm39)	missense	probably damaging	1.00
R1704:Avpr1b	UTSW	1	131,537,242 (GRCm39)	missense	possibly damaging	0.80
R1732:Avpr1b	UTSW	1	131,527,992 (GRCm39)	missense	probably damaging	1.00
R1754:Avpr1b	UTSW	1	131,527,839 (GRCm39)	missense	probably damaging	1.00
R6103:Avpr1b	UTSW	1	131,537,155 (GRCm39)	missense	probably damaging	1.00
R7246:Avpr1b	UTSW	1	131,528,008 (GRCm39)	missense	probably damaging	1.00
R7283:Avpr1b	UTSW	1	131,537,469 (GRCm39)	missense	probably benign	0.26
R8253:Avpr1b	UTSW	1	131,537,154 (GRCm39)	missense	probably benign	0.41
R8750:Avpr1b	UTSW	1	131,527,674 (GRCm39)	missense	probably damaging	0.99
R9167:Avpr1b	UTSW	1	131,537,151 (GRCm39)	missense	probably damaging	1.00
R9439:Avpr1b	UTSW	1	131,528,029 (GRCm39)	missense	probably damaging	1.00
Z1176:Avpr1b	UTSW	1	131,537,311 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16