Mutagenetix > Incidental Mutation

Incidental Mutation 'R8360:Vmn1r49'

652141

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r49

Ensembl Gene

ENSMUSG00000095932

Gene Name

vomeronasal 1, receptor 49

Synonyms

V1rb2, VRi2, V1r5

MMRRC Submission

067734-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R8360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90049068-90050000 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90049991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 4 (A4T)

Ref Sequence

ENSEMBL: ENSMUSP00000145107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071865] [ENSMUST00000203791] [ENSMUST00000226368]

AlphaFold

Q9WUF1

Predicted Effect

probably benign
Transcript: ENSMUST00000071865
AA Change: A4T

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000071762
Gene: ENSMUSG00000095932
AA Change: A4T

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:V1R	38	302	5e-165	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203791
AA Change: A4T

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145107
Gene: ENSMUSG00000095932
AA Change: A4T

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:V1R	38	302	5e-165	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226368
AA Change: A4T

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

96% (43/45)

MGI Phenotype

PHENOTYPE: Mice homozygous for a non-functional knock-in allele display abnormal patterns of axonal projections in the accessory olfactory bulb. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17b	C	T	19: 21,655,888 (GRCm39)	Q57*	probably null	Het
Acad8	C	T	9: 26,890,352 (GRCm39)	A288T	possibly damaging	Het
Adamtsl3	G	A	7: 82,197,187 (GRCm39)	C711Y	probably damaging	Het
Ahcyl2	C	A	6: 29,768,869 (GRCm39)	D111E	probably benign	Het
Asxl3	T	C	18: 22,649,174 (GRCm39)	F388L	probably benign	Het
Bcr	T	A	10: 74,981,271 (GRCm39)	S697T	probably damaging	Het
Catspere2	G	A	1: 177,842,724 (GRCm39)	V50M	possibly damaging	Het
Dgka	C	A	10: 128,563,997 (GRCm39)	V451F	probably damaging	Het
Dnajc2	A	T	5: 21,962,705 (GRCm39)	C617S	unknown	Het
Erich3	C	A	3: 154,469,991 (GRCm39)	T1481K	unknown	Het
Golm2	A	T	2: 121,697,632 (GRCm39)		probably benign	Het
Hdac2	T	A	10: 36,874,059 (GRCm39)	D396E	probably benign	Het
Hmgcs2	A	T	3: 98,204,724 (GRCm39)	D294V	possibly damaging	Het
Hnf1a	A	G	5: 115,091,391 (GRCm39)	V434A	possibly damaging	Het
Il4ra	T	C	7: 125,169,138 (GRCm39)	L130P	probably damaging	Het
Inpp5j	T	C	11: 3,449,767 (GRCm39)	K672E	probably damaging	Het
Kif16b	G	A	2: 142,553,777 (GRCm39)	A1007V	probably benign	Het
Kif26b	T	C	1: 178,743,938 (GRCm39)	S1345P	probably benign	Het
Lrrc28	A	T	7: 67,290,909 (GRCm39)	D37E	probably benign	Het
Mlx	G	T	11: 100,978,140 (GRCm39)		probably benign	Het
Muc16	T	C	9: 18,436,554 (GRCm39)	H7878R	probably benign	Het
Mybpc1	C	A	10: 88,409,359 (GRCm39)	E32*	probably null	Het
Nebl	C	T	2: 17,465,298 (GRCm39)	V18M	probably benign	Het
Nhsl3	C	T	4: 129,117,995 (GRCm39)	R268Q	possibly damaging	Het
Nlrp3	T	C	11: 59,440,229 (GRCm39)	V602A	probably benign	Het
Npepps	G	A	11: 97,120,665 (GRCm39)	P532S	probably benign	Het
Or7g12	T	A	9: 18,900,139 (GRCm39)	M285K	probably benign	Het
Or8g19	C	T	9: 39,055,761 (GRCm39)	R122*	probably null	Het
Or8k53	T	C	2: 86,177,668 (GRCm39)	I147M	possibly damaging	Het
Pfdn1	G	A	18: 36,584,214 (GRCm39)	T40M	probably benign	Het
Pkd2	G	T	5: 104,607,653 (GRCm39)	E51*	probably null	Het
Prss40	T	A	1: 34,599,876 (GRCm39)	H37L	probably benign	Het
Rab11fip1	A	T	8: 27,642,374 (GRCm39)	C808*	probably null	Het
Rab3gap2	A	T	1: 184,999,270 (GRCm39)		probably benign	Het
Sall3	C	T	18: 81,017,232 (GRCm39)	R232H	probably benign	Het
Sbk3	A	G	7: 4,970,707 (GRCm39)	F221L	probably damaging	Het
Sema7a	T	G	9: 57,862,974 (GRCm39)		probably benign	Het
Serpina3b	C	A	12: 104,104,962 (GRCm39)	N379K	probably benign	Het
Ssbp4	A	G	8: 71,052,039 (GRCm39)	L208P	probably benign	Het
Stxbp5	C	T	10: 9,688,003 (GRCm39)		probably null	Het
Tecrl	A	G	5: 83,448,764 (GRCm39)	Y160H	probably damaging	Het
Tnc	T	C	4: 63,885,511 (GRCm39)	I1773V	probably benign	Het
Ush2a	A	G	1: 188,198,468 (GRCm39)	T1511A	probably benign	Het
Utp15	T	C	13: 98,391,499 (GRCm39)	N246S	probably damaging	Het
Vmn2r57	A	T	7: 41,049,640 (GRCm39)	I703N	probably damaging	Het
Wdr93	A	G	7: 79,398,974 (GRCm39)	D36G	probably damaging	Het
Zfp334	A	G	2: 165,225,278 (GRCm39)	I8T	probably benign	Het

Other mutations in Vmn1r49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Vmn1r49	APN	6	90,049,394 (GRCm39)	missense	probably damaging	0.99
IGL03230:Vmn1r49	APN	6	90,049,650 (GRCm39)	missense	probably damaging	1.00
IGL03308:Vmn1r49	APN	6	90,049,341 (GRCm39)	missense	possibly damaging	0.67
R0517:Vmn1r49	UTSW	6	90,049,720 (GRCm39)	missense	probably damaging	0.98
R0638:Vmn1r49	UTSW	6	90,049,648 (GRCm39)	missense	possibly damaging	0.95
R1498:Vmn1r49	UTSW	6	90,049,298 (GRCm39)	missense	probably damaging	1.00
R1649:Vmn1r49	UTSW	6	90,049,623 (GRCm39)	missense	possibly damaging	0.66
R1668:Vmn1r49	UTSW	6	90,049,764 (GRCm39)	missense	probably benign	0.07
R1816:Vmn1r49	UTSW	6	90,049,785 (GRCm39)	missense	possibly damaging	0.93
R2071:Vmn1r49	UTSW	6	90,049,184 (GRCm39)	missense	probably benign	0.00
R2155:Vmn1r49	UTSW	6	90,049,441 (GRCm39)	missense	probably damaging	0.99
R2274:Vmn1r49	UTSW	6	90,049,126 (GRCm39)	missense	probably benign	0.23
R4222:Vmn1r49	UTSW	6	90,049,228 (GRCm39)	missense	probably benign	0.06
R4614:Vmn1r49	UTSW	6	90,049,534 (GRCm39)	missense	probably benign	0.00
R4797:Vmn1r49	UTSW	6	90,049,612 (GRCm39)	missense	probably benign	0.13
R4978:Vmn1r49	UTSW	6	90,049,872 (GRCm39)	missense	probably benign	0.30
R5227:Vmn1r49	UTSW	6	90,049,753 (GRCm39)	missense	probably benign	0.00
R5959:Vmn1r49	UTSW	6	90,049,786 (GRCm39)	missense	probably damaging	1.00
R6741:Vmn1r49	UTSW	6	90,049,195 (GRCm39)	missense	probably benign	0.19
R6744:Vmn1r49	UTSW	6	90,049,184 (GRCm39)	missense	probably benign	0.00
R7173:Vmn1r49	UTSW	6	90,049,250 (GRCm39)	missense	possibly damaging	0.96
R7457:Vmn1r49	UTSW	6	90,049,534 (GRCm39)	missense	probably benign	0.00
R7573:Vmn1r49	UTSW	6	90,049,843 (GRCm39)	missense	probably benign	0.06
R8399:Vmn1r49	UTSW	6	90,049,689 (GRCm39)	nonsense	probably null
R9560:Vmn1r49	UTSW	6	90,049,382 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATGTCCACAGCTATGAGTCCC -3'
(R):5'- ACAGTGGGGATGGCTTTCAG -3'

Sequencing Primer
(F):5'- ATAAGTAGCATTAGTTGGGTCAGG -3'
(R):5'- TCAGGTAGTGTGAACTGGAGC -3'

Posted On

2020-10-20