Mutagenetix > Incidental Mutation

Incidental Mutation 'R9618:Vmn2r100'

724682

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r100

Ensembl Gene

ENSMUSG00000091859

Gene Name

vomeronasal 2, receptor 100

Synonyms

EG627537

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R9618 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19725073-19752322 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19742583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 319 (H319L)

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: H319L

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

SMART Domains

Protein: ENSMUSP00000128350
Gene: ENSMUSG00000091859
AA Change: H319L

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: H319L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	C	T	3: 68,777,402 (GRCm39)	P121L	probably damaging	Het
2310002L09Rik	C	A	4: 73,868,934 (GRCm39)	M1I	probably null	Het
2510039O18Rik	T	A	4: 148,029,873 (GRCm39)	Y614*	probably null	Het
4930562C15Rik	A	T	16: 4,667,418 (GRCm39)	S270C	unknown	Het
Ak9	A	C	10: 41,203,627 (GRCm39)	T173P		Het
Cfc1	T	C	1: 34,575,560 (GRCm39)	L78P	probably benign	Het
Chrd	T	G	16: 20,552,378 (GRCm39)	C82W	probably damaging	Het
Cln6	T	C	9: 62,758,111 (GRCm39)	V290A	probably damaging	Het
Cps1	A	G	1: 67,196,975 (GRCm39)	D342G	possibly damaging	Het
Cracd	A	G	5: 77,004,617 (GRCm39)	D326G	unknown	Het
Cryzl2	G	A	1: 157,289,578 (GRCm39)	R72H	probably benign	Het
Cyp2j6	A	T	4: 96,414,085 (GRCm39)	H393Q	probably benign	Het
Eefsec	T	C	6: 88,274,681 (GRCm39)	T428A	probably benign	Het
Ergic1	G	A	17: 26,827,619 (GRCm39)	G25S	probably damaging	Het
Esf1	T	C	2: 140,001,714 (GRCm39)	I378V	probably benign	Het
Fndc1	T	A	17: 7,990,313 (GRCm39)	T1128S	unknown	Het
Gabrp	A	T	11: 33,504,342 (GRCm39)	Y324*	probably null	Het
Hadha	G	A	5: 30,339,165 (GRCm39)	T270M	possibly damaging	Het
Hdac1-ps	T	C	17: 78,799,114 (GRCm39)	I35T	probably damaging	Het
Ino80d	G	A	1: 63,101,342 (GRCm39)	T428M	probably damaging	Het
Itgae	T	C	11: 73,011,171 (GRCm39)	F647S	possibly damaging	Het
Kank4	T	C	4: 98,653,732 (GRCm39)	R899G	possibly damaging	Het
Kcna4	T	A	2: 107,126,374 (GRCm39)	N369K	probably benign	Het
Kcnip3	G	T	2: 127,352,812 (GRCm39)	P69Q	probably benign	Het
Mcf2l	A	G	8: 13,034,320 (GRCm39)		probably benign	Het
Mtmr2	T	C	9: 13,707,315 (GRCm39)	V289A	probably benign	Het
Muc21	GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG	GGGGTGGG	17: 35,932,935 (GRCm39)		probably benign	Het
Nxph1	T	G	6: 9,247,108 (GRCm39)	N26K	probably benign	Het
Obox1	A	G	7: 15,289,624 (GRCm39)	I138V	possibly damaging	Het
Or4c35	A	T	2: 89,808,343 (GRCm39)	T74S	probably benign	Het
Or4m1	A	T	14: 50,557,760 (GRCm39)	Y177*	probably null	Het
Or7e176	G	A	9: 20,171,639 (GRCm39)	V168M	possibly damaging	Het
P2ry14	T	A	3: 59,023,251 (GRCm39)	M70L	probably damaging	Het
Pcare	T	A	17: 72,057,817 (GRCm39)	Y620F	probably damaging	Het
Pcnt	A	G	10: 76,188,794 (GRCm39)	Y2869H	probably damaging	Het
Pkd1l1	T	C	11: 8,911,420 (GRCm39)	R286G		Het
Pygb	C	T	2: 150,657,008 (GRCm39)	R320W		Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Slc15a5	A	T	6: 138,032,779 (GRCm39)	S192T	possibly damaging	Het
Tex15	A	G	8: 34,062,397 (GRCm39)	H609R	probably benign	Het
Tmem256	T	A	11: 69,730,210 (GRCm39)	S73T	possibly damaging	Het
Tpr	G	T	1: 150,321,979 (GRCm39)	A2338S	possibly damaging	Het
Trub2	A	T	2: 29,673,346 (GRCm39)	M119K	probably benign	Het
Vmn1r228	T	C	17: 20,997,045 (GRCm39)	M158V	probably benign	Het
Vmn2r3	T	A	3: 64,178,724 (GRCm39)	I514F	probably damaging	Het
Wnt16	T	A	6: 22,297,891 (GRCm39)	Y252*	probably null	Het
Wnt16	G	T	6: 22,297,892 (GRCm39)	E253*	probably null	Het
Xkr4	A	T	1: 3,741,201 (GRCm39)	V124E	probably damaging	Het
Zc3h13	G	T	14: 75,567,542 (GRCm39)	R945L		Het
Zfp445	T	C	9: 122,685,788 (GRCm39)	N251D	probably damaging	Het
Zfp683	A	T	4: 133,782,965 (GRCm39)	D143V	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
R1114:Vmn2r100	UTSW	17	19,752,261 (GRCm39)	missense	probably damaging	1.00
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
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'- ATGATTCCAGCCACATGGAC -3'
(R):5'- TTCACTCATGGCCACATCAAATATG -3'

Sequencing Primer
(F):5'- AGCCACATGGACTTCATATTTTACC -3'
(R):5'- AGCATTGCTTTGACAGTTGTCCAAC -3'

Posted On

2022-09-12