Mutagenetix > Incidental Mutation

Incidental Mutation 'H8786:Avpr1a'

44454

Institutional Source

Beutler Lab

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 #

H8786 (G3) of strain 617

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122284404-122289357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122285373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 222 (M222L)

Ref Sequence

ENSEMBL: ENSMUSP00000020323 (fasta)

Gene Model

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

AlphaFold

Q62463

Predicted Effect

probably benign
Transcript: ENSMUST00000020323
AA Change: M222L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000020323
Gene: ENSMUSG00000020123
AA Change: M222L

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

1x: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,498,905 (GRCm39)	Y363H	probably benign	Het
4933402N03Rik	T	A	7: 130,740,906 (GRCm39)	R103S	probably damaging	Het
Aars1	A	G	8: 111,772,187 (GRCm39)	D459G	probably benign	Het
Adam25	A	T	8: 41,207,261 (GRCm39)	M176L	probably benign	Het
Adcy5	A	G	16: 35,087,551 (GRCm39)	I471V	probably damaging	Het
Ano8	A	T	8: 71,931,388 (GRCm39)		probably benign	Het
Arhgef28	T	A	13: 98,083,461 (GRCm39)	Q1136L	probably damaging	Het
Atp13a3	A	T	16: 30,178,543 (GRCm39)	C164*	probably null	Het
Avl9	G	A	6: 56,734,295 (GRCm39)	A625T	probably damaging	Het
B4galnt4	A	T	7: 140,651,235 (GRCm39)	M939L	probably damaging	Het
B4galt6	A	G	18: 20,822,001 (GRCm39)	F331S	probably benign	Het
C2cd2	G	T	16: 97,680,840 (GRCm39)	Q325K	possibly damaging	Het
Caml	T	G	13: 55,776,409 (GRCm39)	L216R	probably damaging	Het
Cd200r4	A	G	16: 44,653,736 (GRCm39)	T132A	possibly damaging	Het
Ces1h	A	C	8: 94,089,550 (GRCm39)	V283G	probably damaging	Het
Clptm1	A	T	7: 19,369,629 (GRCm39)	V427D	possibly damaging	Het
Drd1	T	A	13: 54,207,122 (GRCm39)	N357I	possibly damaging	Het
Foxq1	C	G	13: 31,743,441 (GRCm39)	S181W	probably damaging	Het
Gfra2	C	T	14: 71,215,818 (GRCm39)	T169M	possibly damaging	Het
Gm42542	T	C	6: 68,872,634 (GRCm39)		probably null	Het
Hoxa13	CGG	CGNGG	6: 52,260,636 (GRCm38)		probably null	Het
Hsd11b1	C	A	1: 192,922,560 (GRCm39)	A166S	probably benign	Het
Kcnab3	T	A	11: 69,219,093 (GRCm39)	F101L	probably damaging	Het
Klf6	C	A	13: 5,911,790 (GRCm39)	H51Q	probably damaging	Het
Krtap4-8	G	A	11: 99,670,898 (GRCm39)	P191L	unknown	Het
Lrrk2	T	A	15: 91,557,561 (GRCm39)	N26K	probably benign	Het
Mrgprd	T	C	7: 144,876,004 (GRCm39)	S292P	probably benign	Het
Ms4a8a	A	G	19: 11,053,725 (GRCm39)	I127T	possibly damaging	Het
Myo7a	T	G	7: 97,744,985 (GRCm39)	N280T	possibly damaging	Het
Nipal4	A	G	11: 46,041,304 (GRCm39)	F297S	probably damaging	Het
Npas1	A	G	7: 16,195,275 (GRCm39)	I351T	possibly damaging	Het
Or12k7	A	G	2: 36,958,341 (GRCm39)	E8G	probably benign	Het
Or4a72	C	A	2: 89,405,623 (GRCm39)	G149V	probably damaging	Het
Or9e1	A	T	11: 58,732,146 (GRCm39)	I69F	probably benign	Het
Parp11	A	G	6: 127,448,598 (GRCm39)	T72A	probably damaging	Het
Pik3c3	T	C	18: 30,427,396 (GRCm39)	V300A	probably damaging	Het
Pik3cb	T	C	9: 98,928,612 (GRCm39)	E881G	possibly damaging	Het
Polr2h	T	A	16: 20,539,281 (GRCm39)	L57*	probably null	Het
Rela	T	A	19: 5,697,046 (GRCm39)	S418T	probably benign	Het
Rptn	A	G	3: 93,305,180 (GRCm39)	T838A	possibly damaging	Het
Sez6l2	T	A	7: 126,560,955 (GRCm39)	N413K	possibly damaging	Het
Slc6a2	A	G	8: 93,721,268 (GRCm39)	I466V	probably benign	Het
Slco4c1	A	T	1: 96,768,876 (GRCm39)	C329S	probably damaging	Het
Sppl2c	A	G	11: 104,077,691 (GRCm39)	M164V	probably benign	Het
Spta1	G	A	1: 174,007,405 (GRCm39)	V212M	probably damaging	Het
Sqor	A	C	2: 122,634,288 (GRCm39)	I142L	probably benign	Het
Suco	T	C	1: 161,680,420 (GRCm39)	E317G	probably damaging	Het
Tlk2	T	A	11: 105,145,805 (GRCm39)	I337N	possibly damaging	Het
Tln1	A	T	4: 43,544,589 (GRCm39)	N1113K	probably damaging	Het
Tmc2	A	G	2: 130,068,182 (GRCm39)	Y234C	probably damaging	Het
Tmem167	A	C	13: 90,246,585 (GRCm39)	K36N	probably damaging	Het
Trim72	T	C	7: 127,603,963 (GRCm39)	L103P	probably damaging	Het
Tut4	T	C	4: 108,408,012 (GRCm39)		probably null	Het
Urb1	T	A	16: 90,566,357 (GRCm39)	M1477L	probably benign	Het
Vwa2	T	A	19: 56,898,164 (GRCm39)	M721K	possibly damaging	Het
Zfp143	T	G	7: 109,693,575 (GRCm39)	D636E	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
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

Predicted Primers

PCR Primer
(F):5'- CTTCCTACATGCTGGTGGTGATGAC -3'
(R):5'- GAAATGCTCTTCACGCTGCTGAC -3'

Sequencing Primer
(F):5'- ATGACGGCTGACCGCTAC -3'
(R):5'- TCACGCTGCTGACACAAGG -3'

Posted On

2013-06-11