Mutagenetix > Incidental Mutation

Incidental Mutation 'R4496:Vmn1r72'

330972

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r72

Ensembl Gene

ENSMUSG00000095430

Gene Name

vomeronasal 1 receptor 72

Synonyms

V1rg1

MMRRC Submission

041749-MU

Accession Numbers

Essential gene?

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

Stock #

R4496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11403526-11404446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11403791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 219 (I219T)

Ref Sequence

ENSEMBL: ENSMUSP00000154511 (fasta)

Gene Model

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

AlphaFold

Q8K3N7

Predicted Effect

probably damaging
Transcript: ENSMUST00000053134
AA Change: I219T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000052997
Gene: ENSMUSG00000095430
AA Change: I219T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000209638
AA Change: I219T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227010
AA Change: I219T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,602,947 (GRCm39)	L514H	possibly damaging	Het
Abca7	T	C	10: 79,838,768 (GRCm39)	F647S	probably damaging	Het
Ahi1	A	G	10: 20,841,444 (GRCm39)	K244E	probably benign	Het
Ankhd1	G	A	18: 36,693,839 (GRCm39)	D17N	probably damaging	Het
Arvcf	G	T	16: 18,223,932 (GRCm39)	K890N	probably damaging	Het
Atosa	T	A	9: 74,938,813 (GRCm39)	S1038T	probably damaging	Het
Atp11c	T	C	X: 59,326,104 (GRCm39)	D478G	probably damaging	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Clca3a2	C	T	3: 144,797,926 (GRCm39)	D180N	possibly damaging	Het
Comt	T	C	16: 18,230,437 (GRCm39)		probably null	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Cyp2d11	C	T	15: 82,276,149 (GRCm39)		probably benign	Het
Fam169b	G	T	7: 68,007,954 (GRCm39)	C289F	possibly damaging	Het
Fastkd5	T	C	2: 130,458,501 (GRCm39)	T30A	probably benign	Het
Fchsd2	A	C	7: 100,931,702 (GRCm39)	T753P	probably benign	Het
Gatd3a	T	C	10: 77,999,377 (GRCm39)	I145V	probably damaging	Het
Glis3	G	A	19: 28,643,527 (GRCm39)	S5L	possibly damaging	Het
Gpr158	T	A	2: 21,831,810 (GRCm39)	M970K	probably damaging	Het
Gpt	A	T	15: 76,582,663 (GRCm39)	Q276L	probably damaging	Het
Gtf3c3	G	T	1: 54,463,291 (GRCm39)	S302R	probably benign	Het
Hnrnpc	A	G	14: 52,312,888 (GRCm39)	S229P	probably benign	Het
Ikzf5	T	C	7: 130,998,393 (GRCm39)		probably null	Het
Mal2	T	C	15: 54,461,835 (GRCm39)	V110A	probably damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Myo3b	A	G	2: 70,084,748 (GRCm39)	D702G	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nat10	T	A	2: 103,588,084 (GRCm39)	I14F	probably damaging	Het
Nat14	C	T	7: 4,926,918 (GRCm39)	T30M	probably damaging	Het
Ndst4	C	A	3: 125,476,922 (GRCm39)	A49D	probably damaging	Het
Nnt	A	T	13: 119,518,301 (GRCm39)	M292K	probably damaging	Het
Obox7	C	T	7: 14,399,299 (GRCm39)	T175I	probably benign	Het
Or2t26	T	A	11: 49,039,214 (GRCm39)	N43K	possibly damaging	Het
Or6c5c	T	G	10: 129,299,430 (GRCm39)	V295G	possibly damaging	Het
Plekhm3	T	C	1: 64,900,395 (GRCm39)	E634G	probably damaging	Het
Plxdc2	T	A	2: 16,517,040 (GRCm39)	I107K	probably damaging	Het
Psmb10	T	A	8: 106,662,660 (GRCm39)	R226S	probably damaging	Het
Ptprr	T	A	10: 116,065,407 (GRCm39)	V160E	possibly damaging	Het
Sema5a	T	A	15: 32,641,133 (GRCm39)	L649H	probably damaging	Het
Sephs1	T	A	2: 4,911,494 (GRCm39)	I356K	probably benign	Het
Serpinb3d	C	T	1: 107,007,022 (GRCm39)	V229M	probably damaging	Het
Slc7a4	T	C	16: 17,393,676 (GRCm39)	D41G	probably damaging	Het
Sort1	T	C	3: 108,217,461 (GRCm39)	V121A	probably benign	Het
Tcf20	C	A	15: 82,739,185 (GRCm39)	Q755H	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Ttll13	A	T	7: 79,906,667 (GRCm39)	Y445F	probably benign	Het
Usp40	T	C	1: 87,923,459 (GRCm39)	I271V	possibly 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
IGL03014:Vmn1r72	UTSW	7	11,403,711 (GRCm39)	missense	possibly damaging	0.80
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
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'- GAAATGGGCTTCATATTGCTGAG -3'
(R):5'- ACATGATGAGCTATGCCTACTG -3'

Sequencing Primer
(F):5'- TGGGCTTCATATTGCTGAGAAGAAC -3'
(R):5'- ATGATGAGCTATGCCTACTGCTCATG -3'

Posted On

2015-07-21