Mutagenetix > Incidental Mutation

Incidental Mutation 'R7455:Avpr1a'

578085

Institutional Source

Beutler Lab

Gene Symbol

Avpr1a

Ensembl Gene

ENSMUSG00000020123

Gene Name

arginine vasopressin receptor 1A

Synonyms

V1aR

MMRRC Submission

045529-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7455 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122284404-122289357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 122285169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 154 (C154G)

Ref Sequence

ENSEMBL: ENSMUSP00000020323 (fasta)

Gene Model

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

AlphaFold

Q62463

Predicted Effect

probably damaging
Transcript: ENSMUST00000020323
AA Change: C154G

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

SMART Domains

Protein: ENSMUSP00000020323
Gene: ENSMUSG00000020123
AA Change: C154G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	C	T	7: 76,074,503 (GRCm39)	H646Y	unknown	Het
Ak5	C	T	3: 152,187,209 (GRCm39)	R426H	probably damaging	Het
Akap9	T	C	5: 4,022,792 (GRCm39)	V1207A	probably benign	Het
Asph	A	T	4: 9,531,732 (GRCm39)		probably null	Het
Boll	T	C	1: 55,339,262 (GRCm39)	Q283R	probably benign	Het
Cad	C	T	5: 31,231,506 (GRCm39)	P1743S	probably damaging	Het
Ccdc137	T	G	11: 120,350,985 (GRCm39)	M129R	probably damaging	Het
Cdh23	A	G	10: 60,142,003 (GRCm39)	I3028T	possibly damaging	Het
Cep68	T	A	11: 20,180,571 (GRCm39)	I687F	probably damaging	Het
Ces2a	T	A	8: 105,464,154 (GRCm39)	I262N	probably damaging	Het
Cfap44	A	G	16: 44,225,147 (GRCm39)		probably benign	Het
Cfap69	T	G	5: 5,675,873 (GRCm39)	H247P	possibly damaging	Het
Cideb	T	C	14: 55,992,292 (GRCm39)	T134A	probably damaging	Het
Cilp2	A	T	8: 70,333,721 (GRCm39)	D1092E	probably damaging	Het
Cptp	G	A	4: 155,950,957 (GRCm39)	R170C	probably damaging	Het
Cysrt1	A	G	2: 25,129,422 (GRCm39)	L30S	probably benign	Het
Dcc	A	G	18: 71,553,394 (GRCm39)	V754A	probably benign	Het
Entrep2	A	G	7: 64,409,161 (GRCm39)	V411A	probably benign	Het
Fer1l5	A	T	1: 36,428,064 (GRCm39)	T453S	probably benign	Het
Fnbp4	ACCACCTCCACCTCCACCTCC	ACCACCTCCACCTCCACCTCCACCTCC	2: 90,608,159 (GRCm39)		probably benign	Het
Frem2	C	T	3: 53,479,701 (GRCm39)		probably null	Het
Gm13941	A	G	2: 110,925,085 (GRCm39)	F173L	unknown	Het
Greb1l	G	A	18: 10,554,915 (GRCm39)	A1654T	probably damaging	Het
Inpp4b	T	A	8: 82,798,332 (GRCm39)	I840N	probably damaging	Het
Kdm4b	T	A	17: 56,703,657 (GRCm39)	I746N	probably damaging	Het
Lins1	C	A	7: 66,361,692 (GRCm39)	H448N	probably benign	Het
Ly9	A	T	1: 171,421,507 (GRCm39)	Y581*	probably null	Het
Mark1	T	A	1: 184,651,947 (GRCm39)	E186V	probably damaging	Het
Mcph1	T	A	8: 18,681,775 (GRCm39)	V304E	probably benign	Het
Mical3	T	C	6: 120,935,705 (GRCm39)	D1607G	probably damaging	Het
Mup18	A	G	4: 61,592,171 (GRCm39)	V31A	probably benign	Het
Nectin3	A	T	16: 46,317,105 (GRCm39)	C11*	probably null	Het
Nedd1	A	T	10: 92,536,787 (GRCm39)	L172M	probably benign	Het
Nim1k	G	A	13: 120,173,995 (GRCm39)	R300W	probably damaging	Het
Oprm1	T	C	10: 6,780,204 (GRCm39)	F289L	probably damaging	Het
Or4c115	G	T	2: 88,927,434 (GRCm39)	P279Q	probably damaging	Het
Or7g12	A	G	9: 18,900,150 (GRCm39)	I289V	possibly damaging	Het
Or8c8	T	C	9: 38,165,550 (GRCm39)	V276A	probably damaging	Het
Parg	T	C	14: 31,931,432 (GRCm39)	Y351H	probably benign	Het
Phf3	A	C	1: 30,876,239 (GRCm39)	V118G	probably damaging	Het
Pik3c2g	T	C	6: 139,913,643 (GRCm39)	Y1014H	unknown	Het
Pmp22	A	G	11: 63,025,339 (GRCm39)		probably null	Het
Ppfibp1	T	A	6: 146,917,848 (GRCm39)	F501L	probably damaging	Het
Rgl2	G	A	17: 34,151,657 (GRCm39)	A234T	probably benign	Het
Rhpn2	G	A	7: 35,070,669 (GRCm39)		probably null	Het
Ryr3	T	C	2: 112,559,211 (GRCm39)	K3058E	probably damaging	Het
Sbsn	A	T	7: 30,452,602 (GRCm39)	Q539L	possibly damaging	Het
Scgn	G	A	13: 24,150,848 (GRCm39)	R168C	probably benign	Het
Serpinb10	A	G	1: 107,463,832 (GRCm39)	Y38C	probably damaging	Het
Sfmbt2	G	A	2: 10,582,766 (GRCm39)	V709I	probably benign	Het
Slc1a2	A	T	2: 102,566,299 (GRCm39)	M10L	probably benign	Het
Sox6	T	G	7: 115,088,904 (GRCm39)	I653L	probably benign	Het
Tespa1	A	G	10: 130,196,559 (GRCm39)	I166V	probably benign	Het
Tex15	T	C	8: 34,067,025 (GRCm39)	Y2152H	possibly damaging	Het
Tlr9	A	G	9: 106,101,729 (GRCm39)	N340S	probably benign	Het
Tmem198	G	A	1: 75,456,430 (GRCm39)	R28Q	unknown	Het
Tut7	T	C	13: 59,969,871 (GRCm39)	Y8C	probably benign	Het
Vmn2r7	T	C	3: 64,624,014 (GRCm39)	D102G	probably benign	Het
Wdr93	A	G	7: 79,425,267 (GRCm39)	M529V	probably benign	Het
Zfp110	A	G	7: 12,581,984 (GRCm39)	H310R	probably benign	Het
Zfp36l2	A	G	17: 84,494,575 (GRCm39)	S21P	probably damaging	Het
Zfp534	G	A	4: 147,759,212 (GRCm39)	H486Y	probably damaging	Het
Zfp638	G	A	6: 83,907,127 (GRCm39)	V431I	probably damaging	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
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
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'- GCTGGGTAATAGCAGTGTGC -3'
(R):5'- AAGGTAGCCCAGCAATCTTG -3'

Sequencing Primer
(F):5'- GACATCCCGCATGCATCTC -3'
(R):5'- CCCAGCAATCTTGGGCTTTGG -3'

Posted On

2019-10-07