Mutagenetix > Incidental Mutation

Incidental Mutation 'S24628:Vmn1r22'

385656

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r22

Ensembl Gene

ENSMUSG00000115091

Gene Name

vomeronasal 1 receptor 22

Synonyms

V1rc23

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

S24628 () of strain waterfowl

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

57898126-57908028 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 57900332 bp (GRCm38)

Zygosity

Homozygous

Amino Acid Change

Threonine to Lysine at position 220 (T220K)

Ref Sequence

ENSEMBL: ENSMUSP00000154301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177435] [ENSMUST00000227342] [ENSMUST00000227650] [ENSMUST00000228076] [ENSMUST00000228257] [ENSMUST00000228322] [ENSMUST00000228905]

AlphaFold

Q8R2D1

Predicted Effect

probably benign
Transcript: ENSMUST00000177435
AA Change: T220K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135207
Gene: ENSMUSG00000114982
AA Change: T220K

Domain	Start	End	E-Value	Type
Pfam:V1R	28	293	3.9e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227342
AA Change: T30K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000227650
AA Change: T220K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000228076
AA Change: T220K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000228257
AA Change: T220K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000228322
AA Change: T220K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000228905
AA Change: T30K

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.1%
3x: 97.0%
10x: 94.3%
20x: 88.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	G	A	17: 55,852,288	V658I	probably benign	Het
Ccdc40	T	C	11: 119,232,118	Y249H	possibly damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Homo
Gbp4	G	A	5: 105,121,106	R394C	possibly damaging	Het
Gpr183	C	A	14: 121,954,476	C211F	probably damaging	Homo
Lcp1	A	T	14: 75,227,006	I556F	possibly damaging	Het
Letm1	G	A	5: 33,747,444	P513S	probably benign	Het
Letm1	G	A	5: 33,747,446	P512L	probably benign	Het
Msh3	A	G	13: 92,346,786	V283A	possibly damaging	Het
Nfkb2	G	T	19: 46,307,567	E170D	probably benign	Het
Npr3	C	A	15: 11,848,563	M439I	probably benign	Het
Olfr1023	A	T	2: 85,887,438	I213F	possibly damaging	Het
Olfr1034	A	T	2: 86,047,055	H191L	probably benign	Het
Pax5	G	A	4: 44,691,886	A120V	probably damaging	Het
Plcb1	A	G	2: 135,337,499	Y609C	probably damaging	Het
Plxna1	G	A	6: 89,357,336	H104Y	probably benign	Homo
Rnf213	A	T	11: 119,414,469	I509F	probably damaging	Het
Ryr2	T	C	13: 11,869,156	S213G	probably damaging	Homo
Spint1	A	G	2: 119,245,615	T231A	probably damaging	Het
Tbcel	C	A	9: 42,444,500	C139F	probably benign	Het
Thbs2	A	C	17: 14,679,973	S573A	probably benign	Het
Tmem43	C	A	6: 91,482,318	P257Q	probably benign	Homo
Tmprss13	A	G	9: 45,337,132		probably null	Het
Tnc	C	T	4: 64,018,012	G229D	probably damaging	Homo
Ugt1a10	TTCATCA	TTCA	1: 88,216,158		probably benign	Het
Vmn1r196	T	A	13: 22,293,836	V215D	probably damaging	Homo
Vmn2r116	G	A	17: 23,387,279	M388I	possibly damaging	Het
Zap70	A	G	1: 36,770,811	M1V	probably null	Homo
Zfp282	A	G	6: 47,897,881	D340G	probably damaging	Homo
Zfp282	T	A	6: 47,905,053	I558N	possibly damaging	Homo

Other mutations in Vmn1r22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0089:Vmn1r22	UTSW	6	57900528	missense	probably benign	0.06
R0415:Vmn1r22	UTSW	6	57900332	missense	probably benign	0.18
R1132:Vmn1r22	UTSW	6	57900841	missense	probably benign	0.43
R1609:Vmn1r22	UTSW	6	57900748	nonsense	probably null
R1666:Vmn1r22	UTSW	6	57900719	missense	probably benign	0.07
R1668:Vmn1r22	UTSW	6	57900719	missense	probably benign	0.07
R1708:Vmn1r22	UTSW	6	57900496	missense	possibly damaging	0.46
R1796:Vmn1r22	UTSW	6	57900149	missense	probably damaging	1.00
R2359:Vmn1r22	UTSW	6	57900989	start codon destroyed	probably null	1.00
R4600:Vmn1r22	UTSW	6	57900875	missense	probably damaging	1.00
R5302:Vmn1r22	UTSW	6	57900975	missense	possibly damaging	0.87
R5560:Vmn1r22	UTSW	6	57900738	missense	probably damaging	1.00
R6026:Vmn1r22	UTSW	6	57900405	missense	probably benign	0.00
R6066:Vmn1r22	UTSW	6	57900879	missense	probably benign	0.01
R6343:Vmn1r22	UTSW	6	57900578	missense	possibly damaging	0.65
R6639:Vmn1r22	UTSW	6	57900714	missense	probably benign	0.01
R7106:Vmn1r22	UTSW	6	57900311	missense	probably damaging	1.00
R7683:Vmn1r22	UTSW	6	57900419	missense	probably damaging	1.00
R8126:Vmn1r22	UTSW	6	57900684	missense	possibly damaging	0.85
R9216:Vmn1r22	UTSW	6	57900272	missense	possibly damaging	0.93
R9486:Vmn1r22	UTSW	6	57900419	missense	probably damaging	1.00
R9707:Vmn1r22	UTSW	6	57900905	missense	probably benign	0.37
R9722:Vmn1r22	UTSW	6	57900646	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CAGTCTGGTGGCATTTTAGC -3'
(R):5'- AAAACCTGTTCACACTTTCCCATG -3'

Sequencing Primer
(F):5'- GCCACAAGTTTTTCAGCACATTG -3'
(R):5'- TTTCCCATGAACAACATCATCAAGG -3'

Posted On

2016-05-10