Mutagenetix > Incidental Mutation

Incidental Mutation 'R6103:Avpr1b'

485349

Institutional Source

Beutler Lab

Gene Symbol

Avpr1b

Ensembl Gene

ENSMUSG00000026432

Gene Name

arginine vasopressin receptor 1B

Synonyms

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

MMRRC Submission

044253-MU

Accession Numbers

Genbank: NM_011924; MGI: 1347010

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131599239-131612000 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 131609417 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 90 (P90S)

Ref Sequence

ENSEMBL: ENSMUSP00000140527 (fasta)

Gene Model

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

AlphaFold

Q9WU02

Predicted Effect

probably damaging
Transcript: ENSMUST00000027690
AA Change: T313I

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

SMART Domains

Protein: ENSMUSP00000027690
Gene: ENSMUSG00000026432
AA Change: T313I

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 damaging
Transcript: ENSMUST00000190410
AA Change: P90S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140527
Gene: ENSMUSG00000026432
AA Change: P90S

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	A	T	10: 43,532,920 (GRCm38)	Y76N	probably benign	Het
Abcc8	A	G	7: 46,119,021 (GRCm38)	S926P	possibly damaging	Het
Acacb	T	A	5: 114,245,881 (GRCm38)	M2157K	probably damaging	Het
Aco2	T	C	15: 81,913,251 (GRCm38)	V636A	probably benign	Het
Adgrf3	T	C	5: 30,196,267 (GRCm38)	Y51C	probably damaging	Het
Adprhl1	T	C	8: 13,222,055 (GRCm38)	T1568A	possibly damaging	Het
Ank1	T	A	8: 23,113,983 (GRCm38)	S937T	probably damaging	Het
Ankrd50	T	C	3: 38,454,429 (GRCm38)	E340G	probably damaging	Het
Cacna2d3	T	C	14: 29,396,489 (GRCm38)	H159R	probably damaging	Het
Carmil3	A	T	14: 55,505,427 (GRCm38)	T1185S	probably benign	Het
Casp2	A	T	6: 42,279,880 (GRCm38)	R357S	probably damaging	Het
Ccdc34	A	G	2: 110,018,007 (GRCm38)	D47G	probably benign	Het
Cd109	A	G	9: 78,698,314 (GRCm38)		probably null	Het
Cd209d	T	C	8: 3,878,304 (GRCm38)	Y27C	probably damaging	Het
Cep350	T	A	1: 155,924,576 (GRCm38)	D1176V	probably benign	Het
Cpd	A	T	11: 76,799,799 (GRCm38)	S844T	probably benign	Het
Cyp4x1	A	G	4: 115,111,667 (GRCm38)	L380P	probably damaging	Het
Dscam	A	G	16: 96,825,581 (GRCm38)	V376A	probably benign	Het
Enam	T	A	5: 88,502,328 (GRCm38)	N565K	probably damaging	Het
Fam110c	G	A	12: 31,074,795 (GRCm38)	W252*	probably null	Het
Fbxo6	A	T	4: 148,149,522 (GRCm38)	I39N	probably damaging	Het
Fgb	T	C	3: 83,043,863 (GRCm38)	D281G	probably benign	Het
Frem2	T	A	3: 53,549,788 (GRCm38)	T2048S	probably benign	Het
Fut8	A	T	12: 77,331,947 (GRCm38)		probably benign	Het
Glmp	T	C	3: 88,328,031 (GRCm38)	S238P	probably benign	Het
Gm35315	T	A	5: 110,078,271 (GRCm38)	Y434F	probably damaging	Het
Gnpnat1	A	G	14: 45,383,399 (GRCm38)	F71S	probably damaging	Het
Gpnmb	A	G	6: 49,042,886 (GRCm38)	R64G	possibly damaging	Het
Grxcr1	T	C	5: 68,166,204 (GRCm38)	F275S	possibly damaging	Het
Ift140	T	A	17: 25,093,126 (GRCm38)	C1314S	probably damaging	Het
Kif9	T	C	9: 110,489,849 (GRCm38)	I127T	possibly damaging	Het
Mmd2	A	G	5: 142,567,863 (GRCm38)		probably null	Het
Ms4a3	A	T	19: 11,639,218 (GRCm38)	V20D	possibly damaging	Het
Myh7b	A	G	2: 155,618,743 (GRCm38)	E272G	probably damaging	Het
Naaladl1	G	A	19: 6,108,713 (GRCm38)	G292S	probably damaging	Het
Notch2	T	A	3: 98,135,743 (GRCm38)	Y1475N	possibly damaging	Het
Obp2a	G	A	2: 25,700,151 (GRCm38)	E21K	probably damaging	Het
Olfr1019	A	G	2: 85,841,432 (GRCm38)	Y120H	probably damaging	Het
Osbpl10	T	A	9: 115,061,872 (GRCm38)	Y109*	probably null	Het
Plcd1	A	T	9: 119,072,041 (GRCm38)	W749R	probably benign	Het
Ptpro	A	G	6: 137,400,706 (GRCm38)	E718G	possibly damaging	Het
Rbm4	C	T	19: 4,787,919 (GRCm38)	R295H	probably damaging	Het
Rsrc1	C	T	3: 66,994,649 (GRCm38)	P44L	unknown	Het
Setdb2	T	C	14: 59,409,532 (GRCm38)		probably null	Het
Slc25a18	C	A	6: 120,789,438 (GRCm38)	L131I	probably damaging	Het
Slc4a10	A	G	2: 62,234,465 (GRCm38)	H221R	probably damaging	Het
Tbc1d32	A	T	10: 56,150,883 (GRCm38)	W757R	probably damaging	Het
Tmem183a	C	A	1: 134,348,146 (GRCm38)	V331L	probably benign	Het
Try10	C	A	6: 41,356,550 (GRCm38)	H76Q	probably damaging	Het
Ttn	T	A	2: 76,918,255 (GRCm38)	H4150L	probably benign	Het
Vmn2r52	G	A	7: 10,171,400 (GRCm38)	P171S	probably benign	Het
Vmn2r88	A	G	14: 51,415,369 (GRCm38)	T450A	probably benign	Het
Yipf7	A	T	5: 69,541,062 (GRCm38)	V34D	probably benign	Het
Zfp647	G	A	15: 76,912,085 (GRCm38)	P125L	probably damaging	Het
Zg16	A	G	7: 127,050,576 (GRCm38)	V71A	probably benign	Het

Other mutations in Avpr1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Avpr1b	APN	1	131,600,147 (GRCm38)	missense	probably damaging	1.00
IGL02516:Avpr1b	APN	1	131,600,629 (GRCm38)	missense	probably damaging	0.98
IGL02708:Avpr1b	APN	1	131,600,651 (GRCm38)	missense	probably damaging	1.00
IGL03122:Avpr1b	APN	1	131,600,519 (GRCm38)	missense	probably damaging	1.00
R0058:Avpr1b	UTSW	1	131,599,786 (GRCm38)	missense	probably benign	0.04
R0058:Avpr1b	UTSW	1	131,599,786 (GRCm38)	missense	probably benign	0.04
R0654:Avpr1b	UTSW	1	131,599,742 (GRCm38)	start codon destroyed	probably null	0.98
R0690:Avpr1b	UTSW	1	131,600,281 (GRCm38)	missense	probably damaging	0.99
R1470:Avpr1b	UTSW	1	131,600,585 (GRCm38)	missense	probably damaging	1.00
R1470:Avpr1b	UTSW	1	131,600,585 (GRCm38)	missense	probably damaging	1.00
R1704:Avpr1b	UTSW	1	131,609,504 (GRCm38)	missense	possibly damaging	0.80
R1732:Avpr1b	UTSW	1	131,600,254 (GRCm38)	missense	probably damaging	1.00
R1754:Avpr1b	UTSW	1	131,600,101 (GRCm38)	missense	probably damaging	1.00
R7246:Avpr1b	UTSW	1	131,600,270 (GRCm38)	missense	probably damaging	1.00
R7283:Avpr1b	UTSW	1	131,609,731 (GRCm38)	missense	probably benign	0.26
R8253:Avpr1b	UTSW	1	131,609,416 (GRCm38)	missense	probably benign	0.41
R8750:Avpr1b	UTSW	1	131,599,936 (GRCm38)	missense	probably damaging	0.99
R9167:Avpr1b	UTSW	1	131,609,413 (GRCm38)	missense	probably damaging	1.00
R9439:Avpr1b	UTSW	1	131,600,291 (GRCm38)	missense	probably damaging	1.00
Z1176:Avpr1b	UTSW	1	131,609,573 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGATTCAGCCTCTGTCC -3'
(R):5'- GTAGATGGACCACAGGTGTG -3'

Sequencing Primer
(F):5'- AGTTTGCACGACTAATGGGCC -3'
(R):5'- CACAGGTGTGGGTCAGCAG -3'

Posted On

2017-08-16