Mutagenetix > Incidental Mutation

Incidental Mutation 'R1114:Vmn2r100'

97083

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r100

Ensembl Gene

ENSMUSG00000091859

Gene Name

vomeronasal 2, receptor 100

Synonyms

EG627537

MMRRC Submission

039187-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1114 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19725073-19752322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19752261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 831 (I831T)

Ref Sequence

ENSEMBL: ENSMUSP00000128350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166081] [ENSMUST00000231465]

AlphaFold

E9QAZ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000166081
AA Change: I831T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128350
Gene: ENSMUSG00000091859
AA Change: I831T

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	83	456	7.4e-41	PFAM
Pfam:NCD3G	510	563	1.9e-21	PFAM
Pfam:7tm_3	594	831	2.6e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000231465
AA Change: I768T

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.5%
20x: 84.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	T	A	9: 8,222,179 (GRCm39)		noncoding transcript	Het
Acss3	T	A	10: 106,824,740 (GRCm39)	R422S	possibly damaging	Het
Asb15	G	A	6: 24,567,176 (GRCm39)	R499H	probably damaging	Het
Aspm	C	T	1: 139,389,662 (GRCm39)		probably benign	Het
Camk2d	G	A	3: 126,633,941 (GRCm39)	V488M	probably damaging	Het
Cd247	A	G	1: 165,616,407 (GRCm39)	K4E	probably benign	Het
Cdh20	A	G	1: 104,906,739 (GRCm39)	D522G	probably damaging	Het
Cse1l	T	A	2: 166,783,123 (GRCm39)		probably benign	Het
Dctn2	T	A	10: 127,114,011 (GRCm39)		probably null	Het
Dpy19l1	A	T	9: 24,336,072 (GRCm39)	F545I	probably benign	Het
Dpy19l4	A	G	4: 11,287,643 (GRCm39)		probably benign	Het
Dsg4	A	T	18: 20,599,540 (GRCm39)	T719S	possibly damaging	Het
Dusp12	A	C	1: 170,708,586 (GRCm39)	V48G	probably damaging	Het
Efcab7	A	T	4: 99,735,452 (GRCm39)	R159*	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw20	A	G	9: 109,052,550 (GRCm39)	V261A	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Inpp5j	C	A	11: 3,444,814 (GRCm39)	R953L	possibly damaging	Het
Itprid2	A	G	2: 79,487,873 (GRCm39)	E652G	probably damaging	Het
Lrrk2	C	T	15: 91,584,671 (GRCm39)	R363*	probably null	Het
Ltbp1	A	G	17: 75,667,770 (GRCm39)	D1089G	probably benign	Het
Luc7l	T	C	17: 26,494,832 (GRCm39)		probably benign	Het
Mdn1	G	A	4: 32,746,568 (GRCm39)		probably null	Het
Mgat4a	A	T	1: 37,503,487 (GRCm39)		probably benign	Het
Mmp12	A	G	9: 7,358,289 (GRCm39)	T392A	possibly damaging	Het
Nlrp12	A	G	7: 3,277,166 (GRCm39)	V921A	probably benign	Het
Or5m5	A	T	2: 85,814,651 (GRCm39)	I156F	probably benign	Het
Or5t7	G	A	2: 86,507,629 (GRCm39)	T16I	possibly damaging	Het
Or6c8b	T	A	10: 128,882,711 (GRCm39)	I74F	possibly damaging	Het
Pkd2l1	T	C	19: 44,179,983 (GRCm39)		probably benign	Het
Pramel24	A	G	4: 143,453,425 (GRCm39)	I178V	probably benign	Het
Rictor	C	A	15: 6,823,486 (GRCm39)	C1554*	probably null	Het
Ryr2	A	G	13: 11,960,867 (GRCm39)	C24R	probably damaging	Het
Scamp2	T	A	9: 57,488,863 (GRCm39)	I188N	probably damaging	Het
Smg1	A	T	7: 117,759,013 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Synrg	C	A	11: 83,914,262 (GRCm39)		probably benign	Het
Syt9	G	T	7: 107,024,562 (GRCm39)	V152F	possibly damaging	Het
Trmt2a	A	G	16: 18,068,304 (GRCm39)		probably benign	Het
Vps13a	G	T	19: 16,727,515 (GRCm39)	H196N	probably benign	Het
Xdh	T	C	17: 74,248,144 (GRCm39)		probably benign	Het

Other mutations in Vmn2r100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Vmn2r100	APN	17	19,746,262 (GRCm39)	missense	probably damaging	1.00
IGL00912:Vmn2r100	APN	17	19,751,654 (GRCm39)	missense	possibly damaging	0.95
IGL01107:Vmn2r100	APN	17	19,741,618 (GRCm39)	missense	probably damaging	1.00
IGL01517:Vmn2r100	APN	17	19,742,225 (GRCm39)	missense	probably benign	0.37
IGL01594:Vmn2r100	APN	17	19,751,495 (GRCm39)	missense	possibly damaging	0.52
IGL01657:Vmn2r100	APN	17	19,746,178 (GRCm39)	missense	possibly damaging	0.89
IGL01822:Vmn2r100	APN	17	19,725,100 (GRCm39)	missense	probably null	0.00
IGL02020:Vmn2r100	APN	17	19,725,200 (GRCm39)	missense	possibly damaging	0.78
IGL02060:Vmn2r100	APN	17	19,741,516 (GRCm39)	missense	possibly damaging	0.79
IGL02126:Vmn2r100	APN	17	19,741,504 (GRCm39)	splice site	probably benign
IGL02142:Vmn2r100	APN	17	19,742,583 (GRCm39)	missense	probably damaging	1.00
IGL02308:Vmn2r100	APN	17	19,741,597 (GRCm39)	missense	possibly damaging	0.90
IGL02407:Vmn2r100	APN	17	19,741,770 (GRCm39)	missense	probably damaging	0.98
IGL02469:Vmn2r100	APN	17	19,751,547 (GRCm39)	nonsense	probably null
IGL03088:Vmn2r100	APN	17	19,742,301 (GRCm39)	missense	probably benign	0.27
IGL03181:Vmn2r100	APN	17	19,752,207 (GRCm39)	missense	probably damaging	1.00
IGL03405:Vmn2r100	APN	17	19,752,186 (GRCm39)	missense	probably damaging	1.00
H8562:Vmn2r100	UTSW	17	19,741,752 (GRCm39)	missense	possibly damaging	0.87
R0012:Vmn2r100	UTSW	17	19,746,296 (GRCm39)	missense	probably damaging	0.99
R0012:Vmn2r100	UTSW	17	19,725,136 (GRCm39)	missense	probably benign
R0044:Vmn2r100	UTSW	17	19,742,441 (GRCm39)	missense	possibly damaging	0.46
R0109:Vmn2r100	UTSW	17	19,742,382 (GRCm39)	missense	possibly damaging	0.80
R0111:Vmn2r100	UTSW	17	19,742,382 (GRCm39)	missense	possibly damaging	0.80
R0112:Vmn2r100	UTSW	17	19,742,382 (GRCm39)	missense	possibly damaging	0.80
R0149:Vmn2r100	UTSW	17	19,741,509 (GRCm39)	critical splice acceptor site	probably null
R0355:Vmn2r100	UTSW	17	19,751,582 (GRCm39)	missense	probably benign	0.00
R0395:Vmn2r100	UTSW	17	19,742,382 (GRCm39)	missense	possibly damaging	0.80
R0396:Vmn2r100	UTSW	17	19,742,382 (GRCm39)	missense	possibly damaging	0.80
R0453:Vmn2r100	UTSW	17	19,742,382 (GRCm39)	missense	possibly damaging	0.80
R0465:Vmn2r100	UTSW	17	19,751,792 (GRCm39)	missense	probably damaging	0.98
R0477:Vmn2r100	UTSW	17	19,742,776 (GRCm39)	missense	probably benign	0.00
R0510:Vmn2r100	UTSW	17	19,742,382 (GRCm39)	missense	possibly damaging	0.80
R0512:Vmn2r100	UTSW	17	19,742,382 (GRCm39)	missense	possibly damaging	0.80
R0514:Vmn2r100	UTSW	17	19,742,382 (GRCm39)	missense	possibly damaging	0.80
R0518:Vmn2r100	UTSW	17	19,742,178 (GRCm39)	missense	probably damaging	1.00
R0521:Vmn2r100	UTSW	17	19,742,178 (GRCm39)	missense	probably damaging	1.00
R0555:Vmn2r100	UTSW	17	19,742,382 (GRCm39)	missense	possibly damaging	0.80
R0608:Vmn2r100	UTSW	17	19,742,382 (GRCm39)	missense	possibly damaging	0.80
R0959:Vmn2r100	UTSW	17	19,743,786 (GRCm39)	missense	possibly damaging	0.95
R2027:Vmn2r100	UTSW	17	19,742,334 (GRCm39)	missense	probably benign	0.02
R2049:Vmn2r100	UTSW	17	19,742,312 (GRCm39)	missense	probably benign	0.00
R2224:Vmn2r100	UTSW	17	19,742,634 (GRCm39)	missense	probably benign	0.03
R2226:Vmn2r100	UTSW	17	19,742,634 (GRCm39)	missense	probably benign	0.03
R3618:Vmn2r100	UTSW	17	19,743,692 (GRCm39)	missense	probably benign
R3715:Vmn2r100	UTSW	17	19,752,272 (GRCm39)	missense	probably damaging	0.99
R4120:Vmn2r100	UTSW	17	19,752,215 (GRCm39)	missense	probably damaging	1.00
R4152:Vmn2r100	UTSW	17	19,743,681 (GRCm39)	frame shift	probably null
R4153:Vmn2r100	UTSW	17	19,743,681 (GRCm39)	frame shift	probably null
R4154:Vmn2r100	UTSW	17	19,743,681 (GRCm39)	frame shift	probably null
R4200:Vmn2r100	UTSW	17	19,742,797 (GRCm39)	missense	probably benign	0.29
R4632:Vmn2r100	UTSW	17	19,752,216 (GRCm39)	missense	probably damaging	1.00
R4720:Vmn2r100	UTSW	17	19,742,788 (GRCm39)	missense	probably benign	0.02
R4761:Vmn2r100	UTSW	17	19,741,630 (GRCm39)	missense	possibly damaging	0.47
R4831:Vmn2r100	UTSW	17	19,741,672 (GRCm39)	missense	probably benign	0.28
R4951:Vmn2r100	UTSW	17	19,752,300 (GRCm39)	missense	probably benign	0.01
R5211:Vmn2r100	UTSW	17	19,746,257 (GRCm39)	missense	possibly damaging	0.67
R5553:Vmn2r100	UTSW	17	19,725,110 (GRCm39)	missense	possibly damaging	0.64
R5657:Vmn2r100	UTSW	17	19,725,178 (GRCm39)	missense	probably benign	0.31
R5883:Vmn2r100	UTSW	17	19,743,786 (GRCm39)	missense	probably benign
R5912:Vmn2r100	UTSW	17	19,752,071 (GRCm39)	missense	probably damaging	0.99
R6141:Vmn2r100	UTSW	17	19,742,576 (GRCm39)	missense	probably benign	0.07
R6146:Vmn2r100	UTSW	17	19,742,522 (GRCm39)	missense	probably benign	0.04
R6500:Vmn2r100	UTSW	17	19,742,355 (GRCm39)	missense	probably damaging	1.00
R6575:Vmn2r100	UTSW	17	19,741,671 (GRCm39)	missense	probably benign	0.12
R6647:Vmn2r100	UTSW	17	19,742,785 (GRCm39)	missense	probably benign	0.00
R7038:Vmn2r100	UTSW	17	19,725,263 (GRCm39)	missense	possibly damaging	0.76
R7052:Vmn2r100	UTSW	17	19,751,556 (GRCm39)	missense	possibly damaging	0.95
R7170:Vmn2r100	UTSW	17	19,752,233 (GRCm39)	missense	probably benign	0.00
R7209:Vmn2r100	UTSW	17	19,751,576 (GRCm39)	missense	not run
R7312:Vmn2r100	UTSW	17	19,742,296 (GRCm39)	missense	probably benign	0.01
R7734:Vmn2r100	UTSW	17	19,742,296 (GRCm39)	missense	probably benign	0.01
R7750:Vmn2r100	UTSW	17	19,742,726 (GRCm39)	missense	probably benign
R8103:Vmn2r100	UTSW	17	19,751,415 (GRCm39)	splice site	probably null
R8193:Vmn2r100	UTSW	17	19,725,102 (GRCm39)	nonsense	probably null
R8267:Vmn2r100	UTSW	17	19,742,752 (GRCm39)	nonsense	probably null
R8290:Vmn2r100	UTSW	17	19,751,612 (GRCm39)	missense	probably damaging	0.99
R8531:Vmn2r100	UTSW	17	19,742,459 (GRCm39)	missense	possibly damaging	0.66
R8786:Vmn2r100	UTSW	17	19,742,838 (GRCm39)	missense	probably damaging	1.00
R8920:Vmn2r100	UTSW	17	19,741,620 (GRCm39)	missense	probably damaging	1.00
R8938:Vmn2r100	UTSW	17	19,751,825 (GRCm39)	missense	probably benign	0.00
R9555:Vmn2r100	UTSW	17	19,743,857 (GRCm39)	missense	probably benign	0.00
R9572:Vmn2r100	UTSW	17	19,741,513 (GRCm39)	missense	probably benign	0.00
R9609:Vmn2r100	UTSW	17	19,743,732 (GRCm39)	missense	probably damaging	1.00
R9618:Vmn2r100	UTSW	17	19,742,583 (GRCm39)	missense	probably damaging	1.00
X0062:Vmn2r100	UTSW	17	19,751,652 (GRCm39)	missense	possibly damaging	0.89
Z1176:Vmn2r100	UTSW	17	19,741,792 (GRCm39)	missense	probably benign	0.00
Z1177:Vmn2r100	UTSW	17	19,725,251 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCAAGATGCTCATACTGAACATGGAC -3'
(R):5'- AGGGTAAGAACCACAAATGTGGCTTTC -3'

Sequencing Primer
(F):5'- CATGGACACATCATCATTTTGTGC -3'
(R):5'- AATCTTCCTTCTAGTGTGAGGTTTT -3'

Posted On

2014-01-05