Mutagenetix > Incidental Mutation

Incidental Mutation 'R6482:Vmn1r20'

517161

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r20

Ensembl Gene

ENSMUSG00000115253

Gene Name

vomeronasal 1 receptor 20

Synonyms

Gm5569

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R6482 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57428930-57435261 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57432108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 140 (S140G)

Ref Sequence

ENSEMBL: ENSMUSP00000153815 (fasta)

Gene Model

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

AlphaFold

K7N778

Predicted Effect

probably benign
Transcript: ENSMUST00000176085
AA Change: S140G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000134973
Gene: ENSMUSG00000093679
AA Change: S140G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226808
AA Change: S140G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000227909
AA Change: S140G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	C	11: 70,011,562	I415V	probably benign	Het
Akap8l	A	G	17: 32,345,396	F6L	possibly damaging	Het
Ano3	T	A	2: 110,697,055	N603Y	probably damaging	Het
Casp8ap2	T	C	4: 32,634,813	S116P	probably damaging	Het
Ccdc110	A	T	8: 45,942,788	Q572L	probably benign	Het
Chit1	T	C	1: 134,143,242	S20P	probably damaging	Het
Col22a1	G	A	15: 71,890,489	P107L	possibly damaging	Het
Dpys	T	C	15: 39,841,973	H248R	probably damaging	Het
Dsg2	A	T	18: 20,601,314	K783I	possibly damaging	Het
Efnb2	A	T	8: 8,620,637	V321E	probably damaging	Het
Fbxo11	A	T	17: 88,012,658	Y209N	probably benign	Het
Gm21936	A	G	12: 87,795,795	Y95C	probably damaging	Het
Gm35315	A	T	5: 110,078,089	C495S	possibly damaging	Het
Hrh1	A	G	6: 114,480,763	Q335R	possibly damaging	Het
Il12rb2	A	G	6: 67,356,686	L203P	probably damaging	Het
Itgav	T	C	2: 83,794,270	S735P	probably damaging	Het
Klrg1	G	T	6: 122,271,453	C162*	probably null	Het
Mcc	T	C	18: 44,445,864	S651G	possibly damaging	Het
Nkx2-2	T	A	2: 147,185,976	I15F	probably damaging	Het
Nppa	G	A	4: 148,000,871	V13I	probably benign	Het
Olfr1104	G	C	2: 87,022,525	F6L	probably benign	Het
Pde2a	A	G	7: 101,501,037	N228D	probably benign	Het
Pgpep1l	C	T	7: 68,239,067		probably null	Het
Plekhg3	A	G	12: 76,576,004	N673D	probably benign	Het
Plxna4	A	G	6: 32,516,737	S315P	probably benign	Het
Psg21	A	T	7: 18,654,739		probably null	Het
Rnf111	T	C	9: 70,429,607	T925A	probably damaging	Het
Rnf219	A	T	14: 104,479,817	C373*	probably null	Het
Spag9	T	C	11: 94,093,502	F734L	possibly damaging	Het
Tarbp1	A	G	8: 126,450,695	V746A	probably benign	Het
Tmtc1	A	G	6: 148,412,745	F119L	probably benign	Het
Ttc21b	A	G	2: 66,226,900	M576T	probably benign	Het
Usp48	T	A	4: 137,634,921	V765E	probably damaging	Het
Vwde	A	G	6: 13,205,844	S235P	probably damaging	Het
Wapl	A	G	14: 34,692,692	S504G	probably benign	Het
Wnt5b	A	T	6: 119,433,612	L289Q	possibly damaging	Het
Zfp142	G	A	1: 74,570,217		probably null	Het
Zfp385b	ATCTTCTTCTTCT	ATCTTCTTCTTCTTCT	2: 77,719,648		probably benign	Het
Zfp948	A	G	17: 21,587,551	H335R	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
R1734:Vmn1r20	UTSW	6	57432300	missense	probably damaging	1.00
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
R9161:Vmn1r20	UTSW	6	57431774	missense	probably benign	0.00
R9165:Vmn1r20	UTSW	6	57432261	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGTAGGGTGATGAGATGCCTC -3'
(R):5'- GATGCTATGAAGGTGCTTGCAC -3'

Sequencing Primer
(F):5'- GTGATGAGATGCCTCTCTATCTGCAC -3'
(R):5'- GCACTGCCTCTGATGTCTACATAAG -3'

Posted On

2018-05-21