Mutagenetix > Incidental Mutation

Incidental Mutation 'R4276:Vmn2r93'

322721

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r93

Ensembl Gene

ENSMUSG00000079698

Gene Name

vomeronasal 2, receptor 93

Synonyms

EG627132

MMRRC Submission

041647-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R4276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18518543-18546703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18525092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 250 (I250T)

Ref Sequence

ENSEMBL: ENSMUSP00000155900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079206] [ENSMUST00000231879] [ENSMUST00000231938]

AlphaFold

L7N1Z9

Predicted Effect

probably benign
Transcript: ENSMUST00000079206
AA Change: I250T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000078200
Gene: ENSMUSG00000079698
AA Change: I250T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ANF_receptor	82	453	5.9e-40	PFAM
Pfam:NCD3G	509	562	2.6e-21	PFAM
Pfam:7tm_3	594	830	1.5e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231879
AA Change: I250T

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231938
AA Change: I250T

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	C	A	9: 26,889,745 (GRCm39)	Q316H	probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Brix1	T	C	15: 10,481,833 (GRCm39)	D101G	possibly damaging	Het
Cfap36	A	G	11: 29,180,584 (GRCm39)		probably null	Het
Chrnb3	A	G	8: 27,883,779 (GRCm39)	N172S	probably damaging	Het
Csnk1e	T	C	15: 79,313,967 (GRCm39)	N37S	probably damaging	Het
Ern1	T	C	11: 106,298,007 (GRCm39)	I705V	probably benign	Het
Gimap8	T	C	6: 48,636,017 (GRCm39)	M594T	probably benign	Het
Gm6578	G	A	6: 12,100,187 (GRCm39)		noncoding transcript	Het
Gpc6	A	G	14: 117,673,328 (GRCm39)	D195G	probably damaging	Het
Gpcpd1	T	C	2: 132,382,207 (GRCm39)	K412E	probably damaging	Het
Insm1	C	A	2: 146,064,888 (GRCm39)	H235N	probably benign	Het
Jmjd8	A	G	17: 26,048,787 (GRCm39)		probably benign	Het
Kbtbd8	T	C	6: 95,103,914 (GRCm39)	V521A	probably damaging	Het
Kcna5	T	C	6: 126,510,329 (GRCm39)	T600A	probably damaging	Het
Kctd6	G	C	14: 8,222,806 (GRCm38)	R216P	probably damaging	Het
Lbx1	C	A	19: 45,223,528 (GRCm39)	V47L	probably benign	Het
Mefv	A	T	16: 3,533,433 (GRCm39)	N279K	probably benign	Het
Mroh1	T	G	15: 76,278,051 (GRCm39)	V24G	probably damaging	Het
Nt5c1b	A	G	12: 10,424,886 (GRCm39)	E142G	probably damaging	Het
Or4f4b	G	T	2: 111,313,849 (GRCm39)	V25L	probably damaging	Het
Or8u3-ps	G	A	2: 85,952,623 (GRCm39)	A119T	probably damaging	Het
Padi2	A	G	4: 140,663,859 (GRCm39)	E404G	possibly damaging	Het
Pitpnb	A	G	5: 111,519,258 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,177,883 (GRCm39)	N1006S	probably benign	Het
Proc	A	G	18: 32,268,967 (GRCm39)	V6A	probably benign	Het
Prrc2c	T	A	1: 162,501,160 (GRCm39)	K1214N	probably damaging	Het
Pstpip2	A	G	18: 77,949,556 (GRCm39)	I122V	probably benign	Het
Pus10	A	G	11: 23,656,895 (GRCm39)	E207G	probably damaging	Het
Rabl2	G	A	15: 89,468,391 (GRCm39)		probably benign	Het
Rbp3	G	A	14: 33,680,607 (GRCm39)	V1070I	probably benign	Het
Rtl6	T	A	15: 84,441,397 (GRCm39)		probably benign	Het
Scn7a	T	G	2: 66,514,407 (GRCm39)	K1122N	probably damaging	Het
Spag16	A	G	1: 69,912,640 (GRCm39)		probably benign	Het
Spata13	C	T	14: 60,993,745 (GRCm39)	R396C	probably damaging	Het
Stmn4	A	T	14: 66,593,166 (GRCm39)		probably benign	Het
Syp	G	T	X: 7,504,931 (GRCm39)		probably benign	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Tnrc6b	A	G	15: 80,786,172 (GRCm39)	I1239V	probably benign	Het
Ubr3	C	T	2: 69,768,731 (GRCm39)	Q510*	probably null	Het
Vegfa	A	G	17: 46,342,392 (GRCm39)	V142A	probably benign	Het

Other mutations in Vmn2r93

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Vmn2r93	APN	17	18,546,504 (GRCm39)	missense	probably damaging	1.00
IGL01326:Vmn2r93	APN	17	18,536,906 (GRCm39)	missense	possibly damaging	0.92
IGL01328:Vmn2r93	APN	17	18,545,819 (GRCm39)	missense	probably benign	0.00
IGL01360:Vmn2r93	APN	17	18,525,510 (GRCm39)	missense	possibly damaging	0.71
IGL01382:Vmn2r93	APN	17	18,533,578 (GRCm39)	nonsense	probably null
IGL01463:Vmn2r93	APN	17	18,525,150 (GRCm39)	missense	probably damaging	1.00
IGL02057:Vmn2r93	APN	17	18,546,032 (GRCm39)	missense	probably damaging	1.00
IGL02257:Vmn2r93	APN	17	18,545,770 (GRCm39)	unclassified	probably benign
IGL02686:Vmn2r93	APN	17	18,533,526 (GRCm39)	missense	possibly damaging	0.89
IGL02720:Vmn2r93	APN	17	18,525,296 (GRCm39)	missense	probably damaging	1.00
IGL03328:Vmn2r93	APN	17	18,525,220 (GRCm39)	missense	probably damaging	1.00
PIT4576001:Vmn2r93	UTSW	17	18,533,473 (GRCm39)	missense	probably benign
R0067:Vmn2r93	UTSW	17	18,546,672 (GRCm39)	missense	probably benign	0.00
R0067:Vmn2r93	UTSW	17	18,546,672 (GRCm39)	missense	probably benign	0.00
R0240:Vmn2r93	UTSW	17	18,525,061 (GRCm39)	missense	probably benign	0.00
R0240:Vmn2r93	UTSW	17	18,525,061 (GRCm39)	missense	probably benign	0.00
R0488:Vmn2r93	UTSW	17	18,546,311 (GRCm39)	missense	probably damaging	1.00
R0667:Vmn2r93	UTSW	17	18,546,503 (GRCm39)	missense	probably damaging	1.00
R0668:Vmn2r93	UTSW	17	18,518,667 (GRCm39)	missense	probably benign	0.00
R0850:Vmn2r93	UTSW	17	18,525,279 (GRCm39)	missense	possibly damaging	0.93
R0924:Vmn2r93	UTSW	17	18,524,443 (GRCm39)	missense	probably benign
R0947:Vmn2r93	UTSW	17	18,524,343 (GRCm39)	missense	probably benign	0.06
R1124:Vmn2r93	UTSW	17	18,518,710 (GRCm39)	missense	probably benign	0.00
R1584:Vmn2r93	UTSW	17	18,525,413 (GRCm39)	missense	possibly damaging	0.84
R1943:Vmn2r93	UTSW	17	18,546,063 (GRCm39)	missense	probably benign	0.04
R2012:Vmn2r93	UTSW	17	18,536,840 (GRCm39)	missense	probably benign	0.01
R2018:Vmn2r93	UTSW	17	18,546,324 (GRCm39)	missense	probably damaging	1.00
R2196:Vmn2r93	UTSW	17	18,525,428 (GRCm39)	missense	probably damaging	1.00
R2373:Vmn2r93	UTSW	17	18,518,665 (GRCm39)	missense	probably benign
R2864:Vmn2r93	UTSW	17	18,546,323 (GRCm39)	missense	probably damaging	1.00
R4446:Vmn2r93	UTSW	17	18,524,312 (GRCm39)	missense	possibly damaging	0.93
R4537:Vmn2r93	UTSW	17	18,525,194 (GRCm39)	missense	possibly damaging	0.86
R4674:Vmn2r93	UTSW	17	18,525,255 (GRCm39)	missense	probably benign	0.34
R4726:Vmn2r93	UTSW	17	18,536,960 (GRCm39)	missense	probably damaging	1.00
R4936:Vmn2r93	UTSW	17	18,524,327 (GRCm39)	missense	possibly damaging	0.95
R4984:Vmn2r93	UTSW	17	18,533,389 (GRCm39)	splice site	probably null
R5111:Vmn2r93	UTSW	17	18,546,326 (GRCm39)	missense	probably damaging	0.99
R5749:Vmn2r93	UTSW	17	18,518,546 (GRCm39)	missense	probably benign	0.06
R5918:Vmn2r93	UTSW	17	18,546,030 (GRCm39)	missense	probably damaging	1.00
R5921:Vmn2r93	UTSW	17	18,546,030 (GRCm39)	missense	probably damaging	1.00
R6091:Vmn2r93	UTSW	17	18,545,958 (GRCm39)	missense	probably benign	0.06
R6283:Vmn2r93	UTSW	17	18,524,366 (GRCm39)	missense	probably benign	0.02
R6680:Vmn2r93	UTSW	17	18,536,920 (GRCm39)	nonsense	probably null
R6876:Vmn2r93	UTSW	17	18,525,450 (GRCm39)	missense	probably benign	0.00
R6963:Vmn2r93	UTSW	17	18,536,849 (GRCm39)	missense	probably damaging	1.00
R6996:Vmn2r93	UTSW	17	18,524,903 (GRCm39)	missense	probably damaging	1.00
R7027:Vmn2r93	UTSW	17	18,533,548 (GRCm39)	missense	probably benign	0.01
R7034:Vmn2r93	UTSW	17	18,546,672 (GRCm39)	missense	probably benign	0.00
R7036:Vmn2r93	UTSW	17	18,546,672 (GRCm39)	missense	probably benign	0.00
R7246:Vmn2r93	UTSW	17	18,546,012 (GRCm39)	missense	possibly damaging	0.89
R7258:Vmn2r93	UTSW	17	18,525,403 (GRCm39)	missense	probably benign	0.32
R7323:Vmn2r93	UTSW	17	18,533,497 (GRCm39)	nonsense	probably null
R7325:Vmn2r93	UTSW	17	18,524,249 (GRCm39)	missense	probably benign	0.01
R7390:Vmn2r93	UTSW	17	18,525,329 (GRCm39)	missense	probably damaging	1.00
R7427:Vmn2r93	UTSW	17	18,546,672 (GRCm39)	missense	probably benign	0.00
R7428:Vmn2r93	UTSW	17	18,546,672 (GRCm39)	missense	probably benign	0.00
R7448:Vmn2r93	UTSW	17	18,546,248 (GRCm39)	missense	probably benign	0.19
R7453:Vmn2r93	UTSW	17	18,533,580 (GRCm39)	missense	probably benign	0.10
R7562:Vmn2r93	UTSW	17	18,518,731 (GRCm39)	missense	probably benign	0.01
R7662:Vmn2r93	UTSW	17	18,525,631 (GRCm39)	missense	probably benign	0.00
R7682:Vmn2r93	UTSW	17	18,525,583 (GRCm39)	missense	probably benign	0.03
R7704:Vmn2r93	UTSW	17	18,536,910 (GRCm39)	missense	probably benign	0.01
R7772:Vmn2r93	UTSW	17	18,533,482 (GRCm39)	missense	probably damaging	0.99
R7957:Vmn2r93	UTSW	17	18,545,954 (GRCm39)	nonsense	probably null
R8276:Vmn2r93	UTSW	17	18,525,649 (GRCm39)	critical splice donor site	probably null
R8290:Vmn2r93	UTSW	17	18,524,291 (GRCm39)	missense	probably damaging	1.00
R8362:Vmn2r93	UTSW	17	18,546,353 (GRCm39)	missense	probably benign	0.02
R8376:Vmn2r93	UTSW	17	18,525,230 (GRCm39)	missense	probably damaging	1.00
R8870:Vmn2r93	UTSW	17	18,525,320 (GRCm39)	missense	possibly damaging	0.91
R8925:Vmn2r93	UTSW	17	18,546,500 (GRCm39)	missense	probably damaging	0.99
R8927:Vmn2r93	UTSW	17	18,546,500 (GRCm39)	missense	probably damaging	0.99
R8954:Vmn2r93	UTSW	17	18,546,252 (GRCm39)	missense	probably damaging	0.99
R9038:Vmn2r93	UTSW	17	18,524,471 (GRCm39)	missense	probably benign
R9131:Vmn2r93	UTSW	17	18,546,143 (GRCm39)	missense	probably damaging	0.99
R9205:Vmn2r93	UTSW	17	18,524,281 (GRCm39)	missense	probably damaging	1.00
R9530:Vmn2r93	UTSW	17	18,518,562 (GRCm39)	missense	probably damaging	0.96
Z1088:Vmn2r93	UTSW	17	18,546,665 (GRCm39)	missense	probably damaging	1.00
Z1177:Vmn2r93	UTSW	17	18,525,600 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCAGTATTCTTCTCTCTACCAGATG -3'
(R):5'- AAGCTTCCATGGAATGAGTCTAAC -3'

Sequencing Primer
(F):5'- TCTACCAGATGGCTCCGCAG -3'
(R):5'- AGTGTTCATGACCCAGAC -3'

Posted On

2015-06-20