Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03014:Vmn1r72'

453314

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r72

Ensembl Gene

ENSMUSG00000095430

Gene Name

vomeronasal 1 receptor 72

Synonyms

V1rg1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL03014 (G1)

Quality Score

128

Status

Validated

Chromosome

Chromosomal Location

11403526-11404446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11403711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 246 (I246F)

Ref Sequence

ENSEMBL: ENSMUSP00000154511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053134] [ENSMUST00000209638] [ENSMUST00000227010]

AlphaFold

Q8K3N7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053134
AA Change: I246F

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052997
Gene: ENSMUSG00000095430
AA Change: I246F

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	305	1.8e-9	PFAM
Pfam:V1R	25	300	6.7e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209638
AA Change: I246F

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227010
AA Change: I246F

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
AW112010	A	G	19: 11,025,456 (GRCm39)		noncoding transcript	Het
Ccdc134	T	C	15: 82,014,306 (GRCm39)	L13P	probably damaging	Het
Ccdc150	G	T	1: 54,329,861 (GRCm39)	V395F	probably damaging	Het
Cdh22	G	T	2: 164,954,331 (GRCm39)	S730*	probably null	Het
Cfap20dc	A	G	14: 8,431,608 (GRCm38)	*675Q	probably null	Het
Chrng	G	T	1: 87,138,759 (GRCm39)		probably null	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Csmd2	G	T	4: 128,190,222 (GRCm39)	M387I	probably benign	Het
Cux1	T	C	5: 136,594,379 (GRCm39)		probably benign	Het
D130043K22Rik	C	T	13: 25,042,075 (GRCm39)	P335S	possibly damaging	Het
Dctn1	A	G	6: 83,174,351 (GRCm39)		probably benign	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dsn1	A	T	2: 156,838,739 (GRCm39)	M292K	possibly damaging	Het
Efemp1	A	G	11: 28,876,218 (GRCm39)	Y461C	probably damaging	Het
Efl1	A	G	7: 82,301,094 (GRCm39)	T33A	probably damaging	Het
Fbln2	T	C	6: 91,242,901 (GRCm39)		probably benign	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Hecw1	T	A	13: 14,420,393 (GRCm39)	Y1010F	probably damaging	Het
Igha	A	G	12: 113,222,713 (GRCm39)	V236A	unknown	Het
Igsf9b	T	C	9: 27,233,932 (GRCm39)	M377T	probably benign	Het
Itga9	A	G	9: 118,457,212 (GRCm39)	T108A	probably benign	Het
Kcna3	A	T	3: 106,945,206 (GRCm39)	M490L	probably benign	Het
Lama3	A	T	18: 12,673,024 (GRCm39)	Y886F	possibly damaging	Het
Lcorl	T	C	5: 45,931,371 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Odr4	C	A	1: 150,258,804 (GRCm39)		probably benign	Het
Or1a1b	G	A	11: 74,097,653 (GRCm39)	L130F	probably damaging	Het
Or51a39	A	T	7: 102,362,753 (GRCm39)	V289E	probably null	Het
Pex10	A	G	4: 155,155,076 (GRCm39)		probably benign	Het
Plcl2	G	A	17: 50,918,029 (GRCm39)	V943M	possibly damaging	Het
Prkcd	T	A	14: 30,329,294 (GRCm39)	T164S	probably damaging	Het
Ptprn2	T	A	12: 117,212,308 (GRCm39)	L910Q	probably damaging	Het
Rab1b	T	C	19: 5,154,923 (GRCm39)	I41V	probably benign	Het
Scpep1	T	A	11: 88,824,271 (GRCm39)		probably null	Het
Sergef	T	C	7: 46,240,180 (GRCm39)	T288A	probably damaging	Het
Setdb1	G	A	3: 95,248,726 (GRCm39)	P397S	probably damaging	Het
Setx	T	A	2: 29,029,423 (GRCm39)	D230E	probably damaging	Het
Sin3a	C	A	9: 57,002,539 (GRCm39)		probably benign	Het
Smad5	T	C	13: 56,883,754 (GRCm39)	L380P	probably damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,532,675 (GRCm39)		probably benign	Het
Tek	A	G	4: 94,715,500 (GRCm39)	D346G	probably benign	Het
Trav7d-4	T	A	14: 53,007,353 (GRCm39)	W12R	unknown	Het
Trmt1l	G	T	1: 151,333,681 (GRCm39)	W728L	probably damaging	Het
Ubash3a	C	A	17: 31,458,198 (GRCm39)	T559K	probably damaging	Het
Zfp618	A	T	4: 62,998,325 (GRCm39)	Q109L	probably damaging	Het

Other mutations in Vmn1r72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Vmn1r72	APN	7	11,404,424 (GRCm39)	missense	probably benign	0.41
IGL02375:Vmn1r72	APN	7	11,403,672 (GRCm39)	missense	probably benign	0.10
IGL02809:Vmn1r72	APN	7	11,403,930 (GRCm39)	missense	probably benign	0.03
IGL03104:Vmn1r72	APN	7	11,403,812 (GRCm39)	missense	probably damaging	1.00
3-1:Vmn1r72	UTSW	7	11,403,825 (GRCm39)	missense	probably damaging	0.97
R0346:Vmn1r72	UTSW	7	11,403,621 (GRCm39)	missense	probably benign
R0524:Vmn1r72	UTSW	7	11,403,719 (GRCm39)	missense	probably benign	0.32
R1951:Vmn1r72	UTSW	7	11,403,731 (GRCm39)	missense	probably damaging	1.00
R1953:Vmn1r72	UTSW	7	11,403,731 (GRCm39)	missense	probably damaging	1.00
R2181:Vmn1r72	UTSW	7	11,403,595 (GRCm39)	nonsense	probably null
R4182:Vmn1r72	UTSW	7	11,403,995 (GRCm39)	missense	probably benign	0.00
R4345:Vmn1r72	UTSW	7	11,403,963 (GRCm39)	missense	possibly damaging	0.86
R4496:Vmn1r72	UTSW	7	11,403,791 (GRCm39)	missense	probably damaging	1.00
R4999:Vmn1r72	UTSW	7	11,404,300 (GRCm39)	missense	possibly damaging	0.63
R5401:Vmn1r72	UTSW	7	11,403,843 (GRCm39)	missense	probably damaging	1.00
R5700:Vmn1r72	UTSW	7	11,404,350 (GRCm39)	missense	probably damaging	0.98
R5754:Vmn1r72	UTSW	7	11,403,776 (GRCm39)	missense	probably damaging	0.99
R6292:Vmn1r72	UTSW	7	11,403,579 (GRCm39)	missense	probably benign	0.02
R6439:Vmn1r72	UTSW	7	11,413,064 (GRCm39)	splice site	probably null
R7616:Vmn1r72	UTSW	7	11,404,272 (GRCm39)	missense	probably damaging	0.96
R7629:Vmn1r72	UTSW	7	11,403,711 (GRCm39)	missense	probably benign
R7737:Vmn1r72	UTSW	7	11,403,634 (GRCm39)	missense	probably damaging	0.98
R7819:Vmn1r72	UTSW	7	11,403,552 (GRCm39)	missense	probably benign	0.01
R8358:Vmn1r72	UTSW	7	11,404,310 (GRCm39)	missense	probably damaging	0.99
R8797:Vmn1r72	UTSW	7	11,403,965 (GRCm39)	missense	probably benign
R8848:Vmn1r72	UTSW	7	11,404,269 (GRCm39)	missense	probably damaging	0.98
R8947:Vmn1r72	UTSW	7	11,403,807 (GRCm39)	missense	possibly damaging	0.89
R9010:Vmn1r72	UTSW	7	11,404,145 (GRCm39)	missense	possibly damaging	0.89
R9165:Vmn1r72	UTSW	7	11,412,951 (GRCm39)	intron	probably benign
R9578:Vmn1r72	UTSW	7	11,404,347 (GRCm39)	missense	probably benign	0.10
X0063:Vmn1r72	UTSW	7	11,403,639 (GRCm39)	missense	probably benign	0.00
Z1088:Vmn1r72	UTSW	7	11,404,100 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACATCCGCTCTGTGTGTATG -3'
(R):5'- ATGCTTCTCTGATGGACTGTGC -3'

Sequencing Primer
(F):5'- TGACAAACTTGGAGGAAGCTATCTC -3'
(R):5'- CTTGGGTCTCATGGCCTGC -3'

Posted On

2017-02-01