Mutagenetix > Incidental Mutation

Incidental Mutation 'R3967:Vmn2r88'

312413

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r88

Ensembl Gene

ENSMUSG00000000606

Gene Name

vomeronasal 2, receptor 88

Synonyms

V2r13, V2r3

MMRRC Submission

040838-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R3967 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51648458-51656984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51650647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 120 (Y120F)

Ref Sequence

ENSEMBL: ENSMUSP00000022438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022438] [ENSMUST00000159674] [ENSMUST00000162998] [ENSMUST00000228139]

AlphaFold

L7N1W8

Predicted Effect

probably benign
Transcript: ENSMUST00000022438
AA Change: Y120F

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: Y120F

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ANF_receptor	76	457	8.3e-27	PFAM
Pfam:NCD3G	516	570	1.2e-18	PFAM
Pfam:7tm_3	603	838	1.9e-55	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000159674
AA Change: Y120F

SMART Domains

Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: Y120F

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	30	408	3.2e-30	PFAM
Pfam:NCD3G	463	516	1.2e-19	PFAM
Pfam:7tm_3	546	785	3.7e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161565

Predicted Effect

probably benign
Transcript: ENSMUST00000162998

SMART Domains

Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399

Domain	Start	End	E-Value	Type
Pfam:Takusan	35	115	2.2e-25	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000163019
AA Change: Y95F

SMART Domains

Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
AA Change: Y95F

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	52	399	3.7e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228139
AA Change: Y120F

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	G	T	8: 122,266,719 (GRCm39)	Q56K	possibly damaging	Het
Adam18	C	A	8: 25,119,726 (GRCm39)	V518L	probably benign	Het
Akap6	A	T	12: 53,188,236 (GRCm39)	K1883N	probably damaging	Het
Arhgef12	C	A	9: 42,916,847 (GRCm39)	R432L	probably damaging	Het
Armcx6	G	T	X: 133,650,505 (GRCm39)	H109N	possibly damaging	Het
Ctnnd2	C	A	15: 30,647,075 (GRCm39)	A257E	possibly damaging	Het
Depdc5	T	A	5: 33,101,459 (GRCm39)	C322*	probably null	Het
Enpp7	T	C	11: 118,881,827 (GRCm39)	I324T	probably damaging	Het
Gm14401	T	C	2: 176,778,789 (GRCm39)	Y292H	possibly damaging	Het
Gm6871	A	T	7: 41,196,148 (GRCm39)	H196Q	probably damaging	Het
Gm9964	T	C	11: 79,187,202 (GRCm39)	T82A	unknown	Het
Gria2	T	A	3: 80,618,084 (GRCm39)	Q317L	possibly damaging	Het
Grtp1	G	A	8: 13,239,705 (GRCm39)	T134I	probably benign	Het
Itpkb	A	T	1: 180,155,363 (GRCm39)		probably benign	Het
Kbtbd12	A	G	6: 88,595,488 (GRCm39)	V114A	probably benign	Het
Lama3	A	T	18: 12,713,398 (GRCm39)	K3230M	probably damaging	Het
Ly75	T	C	2: 60,158,217 (GRCm39)	I1023V	possibly damaging	Het
Myof	C	T	19: 37,889,711 (GRCm39)	V1287M	probably damaging	Het
Myof	T	G	19: 38,011,058 (GRCm39)	D60A	possibly damaging	Het
Narf	A	T	11: 121,129,247 (GRCm39)	E10D	possibly damaging	Het
Nlrx1	A	T	9: 44,166,722 (GRCm39)		probably benign	Het
Or10a3m	A	G	7: 108,313,060 (GRCm39)	M155V	probably benign	Het
Or8b54	A	G	9: 38,686,664 (GRCm39)	T38A	probably benign	Het
Pabpc5	A	G	X: 118,838,321 (GRCm39)	E212G	probably benign	Het
Pidd1	A	G	7: 141,018,995 (GRCm39)	F829L	possibly damaging	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Pkn2	A	G	3: 142,515,438 (GRCm39)	C658R	probably damaging	Het
Psd	C	T	19: 46,312,845 (GRCm39)	R175H	probably benign	Het
Rab39	G	A	9: 53,597,932 (GRCm39)	A111V	possibly damaging	Het
Rb1cc1	T	A	1: 6,318,494 (GRCm39)		probably benign	Het
Rnf39	C	A	17: 37,254,035 (GRCm39)	T19K	probably damaging	Het
Slc16a3	C	T	11: 120,846,251 (GRCm39)	T60M	possibly damaging	Het
Slc26a4	G	T	12: 31,578,686 (GRCm39)	H656N	probably damaging	Het
Slc27a1	A	G	8: 72,032,431 (GRCm39)	E184G	probably damaging	Het
Smc6	T	C	12: 11,348,327 (GRCm39)	V742A	probably benign	Het
Thoc1	T	A	18: 9,968,787 (GRCm39)	V186D	probably damaging	Het
Uhrf2	T	C	19: 30,057,315 (GRCm39)	V491A	probably damaging	Het
Uri1	A	G	7: 37,664,927 (GRCm39)	V253A	possibly damaging	Het
Vmn2r83	T	A	10: 79,327,154 (GRCm39)	N587K	probably benign	Het
Wwox	G	A	8: 115,215,673 (GRCm39)	A149T	probably damaging	Het
Zfp536	T	C	7: 37,173,255 (GRCm39)	*282W	probably null	Het

Other mutations in Vmn2r88

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Vmn2r88	APN	14	51,650,713 (GRCm39)	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51,650,517 (GRCm39)	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51,650,582 (GRCm39)	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51,654,259 (GRCm39)	missense	possibly damaging	0.59
IGL02308:Vmn2r88	APN	14	51,655,437 (GRCm39)	missense	possibly damaging	0.96
IGL02481:Vmn2r88	APN	14	51,651,611 (GRCm39)	missense	probably benign
IGL02483:Vmn2r88	APN	14	51,651,611 (GRCm39)	missense	probably benign
IGL03241:Vmn2r88	APN	14	51,655,830 (GRCm39)	missense	probably benign	0.03
R0052:Vmn2r88	UTSW	14	51,656,157 (GRCm39)	missense	possibly damaging	0.88
R0070:Vmn2r88	UTSW	14	51,651,597 (GRCm39)	missense	probably benign	0.08
R0799:Vmn2r88	UTSW	14	51,651,959 (GRCm39)	missense	possibly damaging	0.61
R0906:Vmn2r88	UTSW	14	51,655,666 (GRCm39)	missense	probably damaging	1.00
R1322:Vmn2r88	UTSW	14	51,651,565 (GRCm39)	missense	probably damaging	1.00
R1352:Vmn2r88	UTSW	14	51,656,007 (GRCm39)	missense	probably damaging	1.00
R1639:Vmn2r88	UTSW	14	51,654,244 (GRCm39)	missense	probably damaging	0.98
R1780:Vmn2r88	UTSW	14	51,656,029 (GRCm39)	missense	probably damaging	1.00
R1834:Vmn2r88	UTSW	14	51,650,487 (GRCm39)	splice site	probably benign
R1911:Vmn2r88	UTSW	14	51,655,671 (GRCm39)	missense	probably damaging	1.00
R2113:Vmn2r88	UTSW	14	51,655,651 (GRCm39)	missense	probably damaging	1.00
R2120:Vmn2r88	UTSW	14	51,650,665 (GRCm39)	missense	probably benign	0.00
R2126:Vmn2r88	UTSW	14	51,651,264 (GRCm39)	missense	probably benign	0.01
R2348:Vmn2r88	UTSW	14	51,651,461 (GRCm39)	missense	probably benign	0.00
R2881:Vmn2r88	UTSW	14	51,656,146 (GRCm39)	missense	probably damaging	0.97
R2884:Vmn2r88	UTSW	14	51,651,391 (GRCm39)	missense	probably damaging	1.00
R3081:Vmn2r88	UTSW	14	51,656,089 (GRCm39)	missense	probably damaging	0.99
R3933:Vmn2r88	UTSW	14	51,651,435 (GRCm39)	missense	probably benign	0.44
R4091:Vmn2r88	UTSW	14	51,652,883 (GRCm39)	missense	probably damaging	1.00
R4378:Vmn2r88	UTSW	14	51,650,746 (GRCm39)	nonsense	probably null
R4397:Vmn2r88	UTSW	14	51,655,435 (GRCm39)	missense	probably damaging	1.00
R4418:Vmn2r88	UTSW	14	51,655,538 (GRCm39)	missense	probably damaging	1.00
R4609:Vmn2r88	UTSW	14	51,655,531 (GRCm39)	missense	probably damaging	0.98
R4647:Vmn2r88	UTSW	14	51,656,250 (GRCm39)	missense	probably benign	0.02
R4672:Vmn2r88	UTSW	14	51,655,612 (GRCm39)	missense	probably damaging	1.00
R4684:Vmn2r88	UTSW	14	51,650,791 (GRCm39)	missense	possibly damaging	0.95
R4686:Vmn2r88	UTSW	14	51,650,796 (GRCm39)	missense	probably benign	0.03
R4720:Vmn2r88	UTSW	14	51,650,702 (GRCm39)	missense	probably benign	0.01
R5046:Vmn2r88	UTSW	14	51,650,638 (GRCm39)	missense	probably benign	0.03
R5063:Vmn2r88	UTSW	14	51,648,603 (GRCm39)	missense	probably damaging	0.96
R5619:Vmn2r88	UTSW	14	51,651,367 (GRCm39)	missense	probably damaging	0.99
R5652:Vmn2r88	UTSW	14	51,656,029 (GRCm39)	missense	probably damaging	0.98
R6020:Vmn2r88	UTSW	14	51,655,606 (GRCm39)	nonsense	probably null
R6103:Vmn2r88	UTSW	14	51,652,826 (GRCm39)	missense	probably benign	0.17
R6674:Vmn2r88	UTSW	14	51,651,795 (GRCm39)	missense	probably benign	0.01
R6799:Vmn2r88	UTSW	14	51,651,426 (GRCm39)	missense	probably benign	0.05
R7089:Vmn2r88	UTSW	14	51,656,100 (GRCm39)	missense
R7104:Vmn2r88	UTSW	14	51,651,253 (GRCm39)	missense
R7265:Vmn2r88	UTSW	14	51,655,776 (GRCm39)	missense
R7316:Vmn2r88	UTSW	14	51,651,712 (GRCm39)	missense
R7552:Vmn2r88	UTSW	14	51,648,315 (GRCm39)	splice site	probably null
R7611:Vmn2r88	UTSW	14	51,651,454 (GRCm39)	missense
R7667:Vmn2r88	UTSW	14	51,655,446 (GRCm39)	missense
R7682:Vmn2r88	UTSW	14	51,655,906 (GRCm39)	missense
R7755:Vmn2r88	UTSW	14	51,650,503 (GRCm39)	missense	probably benign	0.00
R7811:Vmn2r88	UTSW	14	51,656,160 (GRCm39)	missense
R7882:Vmn2r88	UTSW	14	51,650,503 (GRCm39)	missense	probably benign	0.00
R7957:Vmn2r88	UTSW	14	51,650,589 (GRCm39)	missense
R7998:Vmn2r88	UTSW	14	51,651,565 (GRCm39)	missense
R8142:Vmn2r88	UTSW	14	51,651,564 (GRCm39)	missense
R8186:Vmn2r88	UTSW	14	51,656,157 (GRCm39)	missense
R8348:Vmn2r88	UTSW	14	51,656,253 (GRCm39)	missense	probably damaging	0.97
R8448:Vmn2r88	UTSW	14	51,656,253 (GRCm39)	missense	probably damaging	0.97
R8483:Vmn2r88	UTSW	14	51,650,530 (GRCm39)	missense	possibly damaging	0.48
R8783:Vmn2r88	UTSW	14	51,651,523 (GRCm39)	missense
R8859:Vmn2r88	UTSW	14	51,656,263 (GRCm39)	missense	probably damaging	0.97
R8916:Vmn2r88	UTSW	14	51,648,593 (GRCm39)	missense
R8936:Vmn2r88	UTSW	14	51,655,983 (GRCm39)	missense	possibly damaging	0.88
R9004:Vmn2r88	UTSW	14	51,650,624 (GRCm39)	missense
R9038:Vmn2r88	UTSW	14	51,651,490 (GRCm39)	missense
R9063:Vmn2r88	UTSW	14	51,648,329 (GRCm39)	start gained	probably benign
R9311:Vmn2r88	UTSW	14	51,650,503 (GRCm39)	missense	probably benign	0.00
R9382:Vmn2r88	UTSW	14	51,656,197 (GRCm39)	missense
R9483:Vmn2r88	UTSW	14	51,648,641 (GRCm39)	missense
R9602:Vmn2r88	UTSW	14	51,651,189 (GRCm39)	missense
V5622:Vmn2r88	UTSW	14	51,650,584 (GRCm39)	missense	probably benign
X0024:Vmn2r88	UTSW	14	51,651,289 (GRCm39)	missense	possibly damaging	0.79
X0025:Vmn2r88	UTSW	14	51,654,259 (GRCm39)	missense	possibly damaging	0.59
Z1177:Vmn2r88	UTSW	14	51,655,644 (GRCm39)	missense
Z1177:Vmn2r88	UTSW	14	51,655,503 (GRCm39)	frame shift	probably null
Z1190:Vmn2r88	UTSW	14	51,650,658 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TCCCTGTGCTCAGACAACAC -3'
(R):5'- GCACACTCACAAATGTGTTCTCTC -3'

Sequencing Primer
(F):5'- AAAATAATTAGTCTGGCTGTGCGG -3'
(R):5'- TTTCTTGTAGGCACCTATAAATGC -3'

Posted On

2015-04-29