Mutagenetix > Incidental Mutations

Incidental Mutation 'R1734:Vmn1r20'

199560

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r20

Ensembl Gene

ENSMUSG00000115253

Gene Name

vomeronasal 1 receptor 20

Synonyms

Gm5569

MMRRC Submission

039766-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.480) question?

Stock #

R1734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57428930-57435261 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57432300 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 204 (R204G)

Ref Sequence

ENSEMBL: ENSMUSP00000153815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000176085] [ENSMUST00000226808] [ENSMUST00000227909]

Predicted Effect

probably damaging
Transcript: ENSMUST00000176085
AA Change: R204G

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

SMART Domains

Protein: ENSMUSP00000134973
Gene: ENSMUSG00000093679
AA Change: R204G

Domain	Start	End	E-Value	Type
Pfam:V1R	28	293	2.3e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000226808
AA Change: R204G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227909
AA Change: R204G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,585,460	C4695R	probably benign	Het
Actr10	T	A	12: 70,961,996	V401E	probably benign	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Aimp1	A	T	3: 132,674,796	I59K	probably damaging	Het
Alms1	T	A	6: 85,641,550		probably null	Het
Anln	A	T	9: 22,350,955	S947T	possibly damaging	Het
Atp2c1	T	C	9: 105,414,655	T733A	probably damaging	Het
BC049715	C	T	6: 136,840,308	P182L	probably damaging	Het
Cblb	T	C	16: 52,186,240		probably benign	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Chac1	A	T	2: 119,353,458	L180F	probably damaging	Het
Cherp	A	T	8: 72,470,088		probably null	Het
Ckap4	A	G	10: 84,527,874	S442P	probably benign	Het
Clstn3	G	A	6: 124,436,814		probably benign	Het
Crb2	T	A	2: 37,793,656	C1057S	probably damaging	Het
Dact2	T	C	17: 14,196,639	D433G	probably benign	Het
Dnah6	G	A	6: 73,044,761	T3526M	probably damaging	Het
Ethe1	A	G	7: 24,608,384	T210A	probably benign	Het
Fat2	A	G	11: 55,281,371	S2839P	probably benign	Het
Fbxl7	T	C	15: 26,543,649	Y304C	probably damaging	Het
Gad1-ps	A	T	10: 99,445,775		noncoding transcript	Het
Gm436	A	T	4: 144,670,026	C379S	probably benign	Het
Grm3	C	T	5: 9,589,742	R101K	probably benign	Het
Hspa12b	A	G	2: 131,138,536	Y125C	possibly damaging	Het
Il10ra	T	C	9: 45,255,943	T437A	probably benign	Het
Jcad	T	C	18: 4,674,526	F763L	probably damaging	Het
Map3k10	T	C	7: 27,658,115	D746G	probably damaging	Het
Mettl9	T	A	7: 121,047,841	Y57N	probably damaging	Het
Nav2	G	A	7: 49,575,720	E1803K	probably damaging	Het
Nol11	G	A	11: 107,175,623	S447L	possibly damaging	Het
Olfr294	C	T	7: 86,616,217	V143M	probably benign	Het
Osbpl1a	T	C	18: 12,788,316		probably null	Het
Pde6a	A	G	18: 61,285,965	N804S	probably damaging	Het
Pepd	A	T	7: 35,031,426	D301V	probably benign	Het
Piwil2	A	T	14: 70,426,505		probably null	Het
Plec	C	T	15: 76,186,218	V931M	probably damaging	Het
Prrc2a	A	G	17: 35,150,707	S1877P	possibly damaging	Het
Retreg2	G	T	1: 75,142,986		probably null	Het
Slc7a11	G	A	3: 50,372,346	Q489*	probably null	Het
Sned1	G	A	1: 93,259,768	D256N	probably damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Ssfa2	G	A	2: 79,657,822	V750M	probably damaging	Het
Syce2	G	A	8: 84,887,147	E168K	probably benign	Het
Tex37	T	A	6: 70,913,661	Q49L	probably benign	Het
Tmem260	G	T	14: 48,509,093	V609L	probably benign	Het
Trim35	A	G	14: 66,309,329	D515G	probably damaging	Het
Tspan5	T	C	3: 138,898,140	Y131H	probably damaging	Het
Ttbk2	T	C	2: 120,755,838	I466V	probably benign	Het
Ttn	T	C	2: 76,745,813	D24912G	probably damaging	Het
Utp20	A	T	10: 88,767,461	N1843K	probably damaging	Het
Vps18	A	T	2: 119,293,942	Q450L	probably benign	Het
Zbtb4	A	G	11: 69,776,463	E198G	probably benign	Het

Other mutations in Vmn1r20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Vmn1r20	APN	6	57431740	missense	probably damaging	1.00
IGL02622:Vmn1r20	APN	6	57432598	missense	probably damaging	0.99
IGL02636:Vmn1r20	APN	6	57431761	missense	probably benign
R0006:Vmn1r20	UTSW	6	57432305	missense	probably damaging	0.99
R0079:Vmn1r20	UTSW	6	57431792	missense	possibly damaging	0.70
R0200:Vmn1r20	UTSW	6	57432099	missense	probably damaging	0.96
R1675:Vmn1r20	UTSW	6	57431952	missense	probably benign	0.00
R1883:Vmn1r20	UTSW	6	57432321	missense	probably benign	0.14
R2049:Vmn1r20	UTSW	6	57431958	missense	probably damaging	1.00
R2307:Vmn1r20	UTSW	6	57432136	missense	probably benign	0.03
R2346:Vmn1r20	UTSW	6	57431946	missense	possibly damaging	0.83
R4405:Vmn1r20	UTSW	6	57432057	missense	probably benign	0.02
R4946:Vmn1r20	UTSW	6	57432174	missense	probably damaging	0.98
R5259:Vmn1r20	UTSW	6	57432065	nonsense	probably null
R5321:Vmn1r20	UTSW	6	57432442	missense	probably benign	0.21
R5911:Vmn1r20	UTSW	6	57431789	missense	probably benign	0.16
R6042:Vmn1r20	UTSW	6	57432406	missense	possibly damaging	0.90
R6298:Vmn1r20	UTSW	6	57432127	missense	probably benign
R6314:Vmn1r20	UTSW	6	57432057	missense	probably benign	0.00
R6331:Vmn1r20	UTSW	6	57431670	splice site	probably null
R6482:Vmn1r20	UTSW	6	57432108	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCCAGGCTGTCACAATCAGTCCC -3'
(R):5'- ACCCTCAGGATGACTGTGTCATACC -3'

Sequencing Primer
(F):5'- CTACAGTAGTAGCCGGATCTTCTATG -3'
(R):5'- GGATGACTGTGTCATACCTCCAC -3'

Posted On

2014-05-23