Mutagenetix > Incidental Mutation

Incidental Mutation 'R6024:Avpr1a'

479098

Institutional Source

Beutler Lab

Gene Symbol

Avpr1a

Ensembl Gene

ENSMUSG00000020123

Gene Name

arginine vasopressin receptor 1A

Synonyms

V1aR

MMRRC Submission

044196-MU

Accession Numbers

Essential gene?

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

Stock #

R6024 (G1)

Quality Score

164.009

Status

Validated

Chromosome

Chromosomal Location

122284404-122289357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122285053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 115 (Y115C)

Ref Sequence

ENSEMBL: ENSMUSP00000020323 (fasta)

Gene Model

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

AlphaFold

Q62463

Predicted Effect

probably damaging
Transcript: ENSMUST00000020323
AA Change: Y115C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020323
Gene: ENSMUSG00000020123
AA Change: Y115C

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

Meta Mutation Damage Score

0.2617

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,624,624 (GRCm39)	F3782L	probably benign	Het
Akr1d1	T	C	6: 37,535,417 (GRCm39)	I267T	probably benign	Het
Aoc1l1	A	T	6: 48,953,030 (GRCm39)	K318N	possibly damaging	Het
Arhgef5	T	C	6: 43,252,068 (GRCm39)	S940P	probably benign	Het
Art2b	A	G	7: 101,229,587 (GRCm39)	I104T	probably benign	Het
Cdc42bpg	T	A	19: 6,367,526 (GRCm39)	L995Q	probably damaging	Het
Cenatac	T	C	9: 44,329,249 (GRCm39)	T13A	possibly damaging	Het
Clip1	T	C	5: 123,753,152 (GRCm39)	K210E	possibly damaging	Het
Cog4	C	T	8: 111,608,112 (GRCm39)	T735I	probably damaging	Het
Creb3l4	G	A	3: 90,146,006 (GRCm39)	S206L	probably damaging	Het
Csf3r	C	A	4: 125,931,310 (GRCm39)		probably null	Het
Dnah11	G	T	12: 117,994,007 (GRCm39)	S2346R	probably benign	Het
Dnai2	A	T	11: 114,643,734 (GRCm39)	I467F	possibly damaging	Het
Dpy19l4	A	T	4: 11,276,876 (GRCm39)	M523K	probably damaging	Het
Ebf3	T	C	7: 136,802,264 (GRCm39)	D407G	probably damaging	Het
Fbn2	A	G	18: 58,209,908 (GRCm39)	I991T	probably benign	Het
Gcc1	T	C	6: 28,419,299 (GRCm39)	T345A	probably benign	Het
Gm1527	C	T	3: 28,974,752 (GRCm39)	H522Y	probably benign	Het
Gm4846	T	A	1: 166,317,696 (GRCm39)	Y240F	probably benign	Het
Hmgcl	T	C	4: 135,682,926 (GRCm39)	V126A	probably benign	Het
Ifit1bl2	G	T	19: 34,597,438 (GRCm39)	S59R	probably benign	Het
Itga6	A	G	2: 71,617,577 (GRCm39)	N32S	probably benign	Het
Lcor	C	A	19: 41,572,396 (GRCm39)	P384T	possibly damaging	Het
Macc1	T	C	12: 119,414,160 (GRCm39)	S779P	probably benign	Het
Mctp1	G	T	13: 76,533,280 (GRCm39)	L209F	probably damaging	Het
Mink1	A	G	11: 70,489,915 (GRCm39)	N97S	possibly damaging	Het
Mst1r	T	A	9: 107,785,350 (GRCm39)	V336E	probably benign	Het
Muc16	A	T	9: 18,557,967 (GRCm39)	S2775R	unknown	Het
Muc6	T	A	7: 141,227,841 (GRCm39)	T1316S	possibly damaging	Het
Myh11	T	A	16: 14,095,567 (GRCm39)	N65I	probably damaging	Het
Myo9a	A	G	9: 59,762,671 (GRCm39)	N801D	possibly damaging	Het
Nkain2	A	T	10: 31,827,281 (GRCm39)	M103K	probably damaging	Het
Nkx2-2	T	A	2: 147,025,961 (GRCm39)	Y259F	probably benign	Het
Nrxn1	T	C	17: 90,897,526 (GRCm39)	M877V	possibly damaging	Het
Nxf1	C	T	19: 8,745,108 (GRCm39)	L453F	probably damaging	Het
Pcnt	T	C	10: 76,255,871 (GRCm39)	S790G	possibly damaging	Het
Phf3	T	C	1: 30,902,307 (GRCm39)	D2G	probably damaging	Het
Phrf1	T	C	7: 140,838,898 (GRCm39)		probably benign	Het
Ptpn3	C	A	4: 57,248,653 (GRCm39)		probably null	Het
Pygl	T	C	12: 70,243,841 (GRCm39)	T625A	probably benign	Het
R3hdm2	T	A	10: 127,295,349 (GRCm39)	F239I	probably damaging	Het
Sesn1	A	T	10: 41,772,196 (GRCm39)	I242F	probably damaging	Het
Shank2	C	T	7: 143,733,768 (GRCm39)	T105I	probably benign	Het
Skint3	T	C	4: 112,147,543 (GRCm39)	F350S	possibly damaging	Het
Slco5a1	T	C	1: 13,014,294 (GRCm39)	Y320C	probably damaging	Het
Syt11	A	G	3: 88,669,416 (GRCm39)	S159P	probably benign	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tanc2	T	C	11: 105,814,498 (GRCm39)	S1981P	probably damaging	Het
Tmem200c	A	C	17: 69,148,722 (GRCm39)	D435A	possibly damaging	Het
Trappc8	A	G	18: 20,966,066 (GRCm39)	V1125A	probably damaging	Het
Ttn	A	G	2: 76,644,487 (GRCm39)	V4762A	possibly damaging	Het
Unc5d	A	G	8: 29,365,539 (GRCm39)	S149P	possibly damaging	Het
Usf3	A	T	16: 44,040,203 (GRCm39)	N1561I	probably damaging	Het
Wdr4	A	T	17: 31,720,272 (GRCm39)		probably benign	Het
Wdr49	T	G	3: 75,209,133 (GRCm39)	E612D	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
IGL01317:Avpr1a	APN	10	122,285,472 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AACTTAGGACGCGGGTCTTC -3'
(R):5'- GTATGCTCAGAACGAAACTCAGC -3'

Sequencing Primer
(F):5'- ACAGCATGAGTTTCCCGC -3'
(R):5'- CCAAGAGGCGGCGATCATG -3'

Posted On

2017-06-26