Mutagenetix > Incidental Mutation

Incidental Mutation 'R6297:Vmn2r48'

508838

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r48

Ensembl Gene

ENSMUSG00000095914

Gene Name

vomeronasal 2, receptor 48

Synonyms

EG625580

MMRRC Submission

044464-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6297 (G1)

Quality Score

81.0075

Status

Not validated

Chromosome

Chromosomal Location

9661551-9687512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9668807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 548 (N548D)

Ref Sequence

ENSEMBL: ENSMUSP00000130631 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165611]

AlphaFold

E9Q5D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000165611
AA Change: N548D

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

SMART Domains

Protein: ENSMUSP00000130631
Gene: ENSMUSG00000095914
AA Change: N548D

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
low complexity region	62	74	N/A	INTRINSIC
Pfam:ANF_receptor	76	471	2.7e-32	PFAM
Pfam:NCD3G	515	568	1.5e-19	PFAM
Pfam:7tm_3	598	837	4.2e-78	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,926,179 (GRCm39)	V1205A	probably benign	Het
Adgra3	G	A	5: 50,118,189 (GRCm39)	P1120S	probably benign	Het
Ate1	A	G	7: 130,105,570 (GRCm39)	V316A	probably damaging	Het
Bpifa1	A	G	2: 153,986,180 (GRCm39)	I102V	probably benign	Het
Catsperb	A	G	12: 101,557,655 (GRCm39)		probably null	Het
Ccdc47	T	C	11: 106,094,427 (GRCm39)	Y324C	probably damaging	Het
Cdh22	T	C	2: 164,985,564 (GRCm39)	K341E	possibly damaging	Het
Cenpb	A	G	2: 131,020,289 (GRCm39)		probably benign	Het
Dgkd	A	G	1: 87,853,866 (GRCm39)	I570V	possibly damaging	Het
Dhx32	A	T	7: 133,344,529 (GRCm39)	Y27N	probably damaging	Het
Dnah10	A	G	5: 124,852,144 (GRCm39)	D1824G	possibly damaging	Het
Fbxo8	T	A	8: 57,022,323 (GRCm39)	C112S	probably damaging	Het
Fndc3a	T	C	14: 72,800,980 (GRCm39)	D590G	probably damaging	Het
Gm19965	T	A	1: 116,750,410 (GRCm39)	I697N	possibly damaging	Het
Greb1l	G	A	18: 10,469,494 (GRCm39)	D170N	probably damaging	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Igfn1	A	T	1: 135,892,399 (GRCm39)		probably null	Het
Ighg2b	T	C	12: 113,270,512 (GRCm39)	E206G	unknown	Het
Ints15	A	T	5: 143,293,787 (GRCm39)	L230Q	possibly damaging	Het
Lman2	T	C	13: 55,496,244 (GRCm39)	N267S	probably damaging	Het
Lrfn5	A	T	12: 61,890,348 (GRCm39)	I546F	probably benign	Het
Lrrc4c	T	C	2: 97,459,964 (GRCm39)	S197P	probably damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mdga2	A	G	12: 66,553,027 (GRCm39)	Y793H	probably damaging	Het
Mdn1	C	T	4: 32,730,054 (GRCm39)	R2799*	probably null	Het
Mup13	T	A	4: 61,181,634 (GRCm39)	I148F	probably benign	Het
Or2aj5	A	C	16: 19,424,680 (GRCm39)	V246G	possibly damaging	Het
Or5m10	A	G	2: 85,717,159 (GRCm39)	N5S	probably benign	Het
Or8g53	A	T	9: 39,683,522 (GRCm39)	D191E	possibly damaging	Het
Pdgfra	A	G	5: 75,334,135 (GRCm39)	K403E	possibly damaging	Het
Pigz	A	T	16: 31,763,755 (GRCm39)	Y271F	probably damaging	Het
Plekhg4	T	C	8: 106,104,472 (GRCm39)	L517P	probably damaging	Het
Rnf20	T	C	4: 49,642,132 (GRCm39)	L232P	probably damaging	Het
Rpa3	C	A	6: 8,256,767 (GRCm39)	G71*	probably null	Het
Rsf1	GCG	GCGACGGCGTCG	7: 97,229,114 (GRCm39)		probably benign	Het
Rubcnl	A	G	14: 75,287,584 (GRCm39)	T623A	probably benign	Het
Sltm	A	G	9: 70,488,641 (GRCm39)	D597G	probably damaging	Het
Stpg2	T	C	3: 139,407,432 (GRCm39)	V528A	possibly damaging	Het
Supt6	C	T	11: 78,116,885 (GRCm39)	R589Q	possibly damaging	Het
Tas1r2	T	A	4: 139,389,361 (GRCm39)	M419K	possibly damaging	Het
Txndc16	T	C	14: 45,389,243 (GRCm39)	T486A	probably benign	Het
Vamp9	A	G	5: 100,089,092 (GRCm39)	Y119C	probably damaging	Het
Vmn1r185	A	G	7: 26,311,046 (GRCm39)	V153A	probably benign	Het
Washc5	A	G	15: 59,215,895 (GRCm39)	I378T	possibly damaging	Het
Wdr37	A	G	13: 8,892,764 (GRCm39)		probably null	Het
Xrn2	G	A	2: 146,868,490 (GRCm39)	R181H	probably damaging	Het
Ylpm1	C	G	12: 85,062,051 (GRCm39)	P651A	unknown	Het

Other mutations in Vmn2r48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4093:Vmn2r48	UTSW	7	9,676,186 (GRCm39)	missense	probably damaging	0.99
R4093:Vmn2r48	UTSW	7	9,676,185 (GRCm39)	missense	probably benign	0.06
R5056:Vmn2r48	UTSW	7	9,676,251 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCACCAGGCATGTTTGTTTG -3'
(R):5'- GTTTCCACATACAGCTCAATATCAG -3'

Sequencing Primer
(F):5'- CACCAGGCATGTTTGTTTGCTTTTG -3'
(R):5'- CCAGACTGGTCTACAAAGTGAGTTC -3'

Posted On

2018-04-02