Mutagenetix > Incidental Mutation

Incidental Mutation 'R6385:Vmn1r46'

515551

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r46

Ensembl Gene

ENSMUSG00000061653

Gene Name

vomeronasal 1 receptor 46

Synonyms

V1rb8

MMRRC Submission

044534-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6385 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89953153-89954082 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89953427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 92 (H92R)

Ref Sequence

ENSEMBL: ENSMUSP00000154175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075797] [ENSMUST00000205088] [ENSMUST00000226715] [ENSMUST00000228231] [ENSMUST00000228349] [ENSMUST00000228401]

AlphaFold

Q9EQ45

Predicted Effect

probably damaging
Transcript: ENSMUST00000075797
AA Change: H92R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075197
Gene: ENSMUSG00000061653
AA Change: H92R

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:V1R	38	301	5.9e-132	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205088
AA Change: H92R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144888
Gene: ENSMUSG00000061653
AA Change: H92R

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:V1R	38	301	5.9e-132	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000226715
AA Change: H92R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228231
AA Change: H92R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228349
AA Change: H92R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228401
AA Change: H92R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,236 (GRCm39)	M910L	probably benign	Het
Abca9	T	A	11: 110,025,080 (GRCm39)	I988F	probably damaging	Het
Adgra2	A	T	8: 27,608,878 (GRCm39)	S92C	probably damaging	Het
Apon	A	G	10: 128,090,223 (GRCm39)		probably benign	Het
Arap3	G	A	18: 38,130,084 (GRCm39)	R26*	probably null	Het
Btnl6	T	G	17: 34,727,343 (GRCm39)	I396L	probably benign	Het
Catsper3	G	T	13: 55,934,239 (GRCm39)	Q53H	probably damaging	Het
Cep164	T	G	9: 45,691,081 (GRCm39)	E372A	probably damaging	Het
Cln3	A	T	7: 126,174,207 (GRCm39)	C339S	probably null	Het
Cntnap2	G	A	6: 46,833,114 (GRCm39)	D776N	probably benign	Het
Cttnbp2nl	A	G	3: 104,912,952 (GRCm39)	F311L	probably benign	Het
Daam2	C	T	17: 49,770,964 (GRCm39)	A918T	probably damaging	Het
Dst	T	C	1: 34,346,549 (GRCm39)	V7353A	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fanca	A	T	8: 124,032,606 (GRCm39)		probably null	Het
Filip1	G	T	9: 79,727,813 (GRCm39)	Q269K	possibly damaging	Het
Fut9	G	A	4: 25,620,328 (GRCm39)	S162L	probably damaging	Het
Gtf2ird1	A	T	5: 134,433,544 (GRCm39)	H294Q	probably benign	Het
Gucy1a1	A	G	3: 82,016,313 (GRCm39)	I225T	probably benign	Het
H2-DMb1	T	A	17: 34,374,576 (GRCm39)	N75K	probably benign	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Hes1	A	G	16: 29,884,424 (GRCm39)	M6V	possibly damaging	Het
Hydin	A	T	8: 111,038,856 (GRCm39)	H198L	possibly damaging	Het
Iars1	T	C	13: 49,855,371 (GRCm39)	L266P	probably damaging	Het
Ifna11	A	G	4: 88,738,386 (GRCm39)	E64G	probably damaging	Het
Inpp5d	T	A	1: 87,627,397 (GRCm39)	L566Q	probably damaging	Het
Kcnh3	T	C	15: 99,125,822 (GRCm39)	S160P	probably benign	Het
Lama5	T	C	2: 179,838,326 (GRCm39)	T850A	probably damaging	Het
Lgi3	A	G	14: 70,768,610 (GRCm39)	T36A	possibly damaging	Het
Lrp2	T	C	2: 69,326,128 (GRCm39)	S1810G	probably benign	Het
Lypd10	A	T	7: 24,413,535 (GRCm39)	I184F	probably damaging	Het
Msln	T	A	17: 25,970,115 (GRCm39)	D280V	probably benign	Het
Myh4	A	T	11: 67,146,663 (GRCm39)	I1513F	probably damaging	Het
Ncf2	A	T	1: 152,706,173 (GRCm39)	M262L	probably benign	Het
Neb	G	T	2: 52,075,311 (GRCm39)	A218D	probably damaging	Het
Notch4	C	A	17: 34,792,788 (GRCm39)	Q640K	probably null	Het
Or4f7	T	C	2: 111,644,964 (GRCm39)	I36V	probably benign	Het
Or52e19b	A	T	7: 103,033,104 (GRCm39)	V35D	possibly damaging	Het
Or6k6	A	T	1: 173,944,862 (GRCm39)	F240Y	probably damaging	Het
Pear1	G	T	3: 87,661,506 (GRCm39)	H562N	probably benign	Het
Poli	C	A	18: 70,663,072 (GRCm39)		probably benign	Het
Ppp3r2	A	G	4: 49,681,767 (GRCm39)	I61T	possibly damaging	Het
Rfc5	T	C	5: 117,523,463 (GRCm39)	T112A	probably benign	Het
Serhl	A	G	15: 82,985,823 (GRCm39)	T5A	probably benign	Het
Shank3	T	C	15: 89,405,578 (GRCm39)		probably null	Het
Slc22a28	A	G	19: 8,078,844 (GRCm39)	S282P	probably damaging	Het
Slc2a12	C	T	10: 22,569,929 (GRCm39)	T540I	possibly damaging	Het
Slurp2	T	C	15: 74,618,524 (GRCm39)	M1V	probably null	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tln2	C	T	9: 67,185,411 (GRCm39)	A700T	probably benign	Het
Ttn	C	T	2: 76,748,192 (GRCm39)	V4286I	probably benign	Het
Ube2u	A	G	4: 100,389,341 (GRCm39)	K214R	possibly damaging	Het
Wdr90	A	G	17: 26,067,504 (GRCm39)	I1486T	probably damaging	Het
Zc3h11a	A	T	1: 133,565,192 (GRCm39)	S236T	possibly damaging	Het
Zfp318	A	G	17: 46,721,932 (GRCm39)	K1312E	probably damaging	Het
Zfp930	A	G	8: 69,681,283 (GRCm39)	Y326C	probably damaging	Het
Zfp972	G	T	2: 177,563,588 (GRCm39)	D8E	probably damaging	Het

Other mutations in Vmn1r46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02271:Vmn1r46	APN	6	89,953,886 (GRCm39)	missense	probably damaging	1.00
IGL02488:Vmn1r46	APN	6	89,953,963 (GRCm39)	missense	probably benign	0.10
IGL03116:Vmn1r46	APN	6	89,953,898 (GRCm39)	missense	probably benign	0.16
IGL03270:Vmn1r46	APN	6	89,953,756 (GRCm39)	missense	probably damaging	1.00
R0109:Vmn1r46	UTSW	6	89,954,044 (GRCm39)	missense	probably benign	0.03
R0126:Vmn1r46	UTSW	6	89,953,935 (GRCm39)	missense	probably benign
R0681:Vmn1r46	UTSW	6	89,953,946 (GRCm39)	missense	probably damaging	1.00
R1501:Vmn1r46	UTSW	6	89,953,198 (GRCm39)	missense	probably benign	0.03
R1717:Vmn1r46	UTSW	6	89,953,811 (GRCm39)	missense	probably damaging	1.00
R1937:Vmn1r46	UTSW	6	89,953,716 (GRCm39)	missense	probably benign	0.00
R4323:Vmn1r46	UTSW	6	89,953,349 (GRCm39)	missense	probably benign	0.06
R5449:Vmn1r46	UTSW	6	89,953,343 (GRCm39)	missense	probably benign	0.18
R6062:Vmn1r46	UTSW	6	89,953,241 (GRCm39)	missense	possibly damaging	0.64
R6431:Vmn1r46	UTSW	6	89,953,389 (GRCm39)	missense	probably benign	0.13
R7126:Vmn1r46	UTSW	6	89,953,976 (GRCm39)	missense	possibly damaging	0.79
R7391:Vmn1r46	UTSW	6	89,953,607 (GRCm39)	missense	probably benign	0.23
R8700:Vmn1r46	UTSW	6	89,953,325 (GRCm39)	missense	probably benign	0.04
R8950:Vmn1r46	UTSW	6	89,954,053 (GRCm39)	missense	probably damaging	0.99
R9046:Vmn1r46	UTSW	6	89,953,585 (GRCm39)	missense	probably damaging	1.00
Z1088:Vmn1r46	UTSW	6	89,953,723 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTTGGGATCTCAGCTAACAG -3'
(R):5'- GCAGTAATCGATAAGAGTTCACTGC -3'

Sequencing Primer
(F):5'- GTTGGGATCTCAGCTAACAGTATCC -3'
(R):5'- TCGATAAGAGTTCACTGCTAAGAGAC -3'

Posted On

2018-05-04