Mutagenetix > Incidental Mutation

Incidental Mutation 'R6293:Vmn1r21'

508548

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r21

Ensembl Gene

ENSMUSG00000115343

Gene Name

vomeronasal 1 receptor 21

Synonyms

V1rc28

MMRRC Submission

044462-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R6293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57820549-57821442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57821255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 63 (D63G)

Ref Sequence

ENSEMBL: ENSMUSP00000154295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081186] [ENSMUST00000203310] [ENSMUST00000203488] [ENSMUST00000226191]

AlphaFold

Q8R2C6

Predicted Effect

probably benign
Transcript: ENSMUST00000081186
AA Change: D63G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000079950
Gene: ENSMUSG00000058588
AA Change: D63G

Domain	Start	End	E-Value	Type
Pfam:V1R	28	293	5.9e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203270

Predicted Effect

probably benign
Transcript: ENSMUST00000203310
AA Change: D63G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145398
Gene: ENSMUSG00000115343
AA Change: D63G

Domain	Start	End	E-Value	Type
Pfam:V1R	27	107	1.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203488
AA Change: D63G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144978
Gene: ENSMUSG00000115343
AA Change: D63G

Domain	Start	End	E-Value	Type
Pfam:V1R	28	105	2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226191
AA Change: D63G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,935,395 (GRCm39)	D323G	probably damaging	Het
Abcb1b	T	C	5: 8,903,493 (GRCm39)	I1048T	probably benign	Het
Adgra3	G	A	5: 50,118,189 (GRCm39)	P1120S	probably benign	Het
Alkbh8	G	T	9: 3,347,841 (GRCm39)	L211F	possibly damaging	Het
Ankrd27	T	C	7: 35,307,885 (GRCm39)	S375P	possibly damaging	Het
Apoc1	T	A	7: 19,425,817 (GRCm39)	T68S	probably damaging	Het
Arfgef2	T	A	2: 166,715,508 (GRCm39)	Y1318N	possibly damaging	Het
Camsap2	C	A	1: 136,215,658 (GRCm39)	R345L	probably damaging	Het
Ccdc38	C	T	10: 93,398,659 (GRCm39)	Q46*	probably null	Het
Cdk12	T	A	11: 98,115,379 (GRCm39)	M840K	unknown	Het
Cfap251	A	C	5: 123,460,511 (GRCm39)	N1158H	probably damaging	Het
Col12a1	A	T	9: 79,521,640 (GRCm39)	N2772K	probably benign	Het
Dthd1	A	G	5: 63,000,193 (GRCm39)	D505G	probably damaging	Het
Elf1	C	T	14: 79,798,226 (GRCm39)	H38Y	probably damaging	Het
Gcnt2	T	A	13: 41,072,173 (GRCm39)	V272D	probably damaging	Het
Gm9964	T	A	11: 79,187,420 (GRCm39)	K9M	unknown	Het
Gpr155	A	G	2: 73,204,341 (GRCm39)	S158P	possibly damaging	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hmcn2	T	C	2: 31,225,463 (GRCm39)	I124T	probably damaging	Het
Hydin	A	G	8: 111,324,543 (GRCm39)	S4635G	possibly damaging	Het
Lrch2	C	T	X: 146,263,553 (GRCm39)	A369T	probably damaging	Homo
Lrrc8c	A	G	5: 105,754,612 (GRCm39)	Y129C	probably damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mcm3ap	C	G	10: 76,307,312 (GRCm39)	Y418*	probably null	Het
Mpdz	A	G	4: 81,278,293 (GRCm39)	L764P	probably damaging	Het
Myt1l	A	G	12: 29,877,627 (GRCm39)	D426G	unknown	Het
Ndel1	C	T	11: 68,727,101 (GRCm39)	R192H	probably damaging	Het
Nudt21	T	C	8: 94,755,506 (GRCm39)	D134G	probably damaging	Het
Nup210l	A	T	3: 90,022,371 (GRCm39)	H113L	probably damaging	Het
Nxf1	A	G	19: 8,746,546 (GRCm39)	K586E	probably damaging	Het
Or2ag15	T	C	7: 106,340,613 (GRCm39)	H176R	probably damaging	Het
Or4s2	A	G	2: 88,473,624 (GRCm39)	E171G	possibly damaging	Het
Osbpl8	A	G	10: 111,108,099 (GRCm39)	Y365C	possibly damaging	Het
Pkd2l2	A	G	18: 34,560,497 (GRCm39)	Y368C	probably damaging	Het
Pkn2	A	G	3: 142,515,465 (GRCm39)	F649L	probably benign	Het
Pla2g4a	T	C	1: 149,755,798 (GRCm39)	Y205C	probably damaging	Het
Prex2	A	G	1: 11,232,522 (GRCm39)	N863S	probably benign	Het
Prkdc	A	G	16: 15,605,019 (GRCm39)	K2979R	probably benign	Het
Ptk6	T	C	2: 180,840,253 (GRCm39)	Y251C	probably damaging	Het
Rapgef6	T	A	11: 54,525,607 (GRCm39)	W334R	probably damaging	Het
Rbm11	A	T	16: 75,393,655 (GRCm39)		probably null	Het
Rhbdl1	A	G	17: 26,053,943 (GRCm39)	L309P	probably damaging	Het
Rhbg	G	A	3: 88,153,133 (GRCm39)	R274*	probably null	Het
Rpp30	A	G	19: 36,081,845 (GRCm39)	*269W	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Slc44a1	A	G	4: 53,561,099 (GRCm39)	K605R	probably damaging	Het
Slco2a1	A	G	9: 102,927,346 (GRCm39)	S80G	probably benign	Het
Tmem50b	A	T	16: 91,380,164 (GRCm39)	M71K	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Tyro3	A	G	2: 119,638,481 (GRCm39)	T303A	possibly damaging	Het
Uba3	A	T	6: 97,173,869 (GRCm39)	D105E	probably damaging	Het
Vstm2b	T	A	7: 40,549,533 (GRCm39)	I63N	probably damaging	Het
Ylpm1	C	G	12: 85,062,051 (GRCm39)	P651A	unknown	Het
Zscan22	T	A	7: 12,640,834 (GRCm39)	C359*	probably null	Het

Other mutations in Vmn1r21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Vmn1r21	APN	6	57,821,049 (GRCm39)	missense	probably benign	0.05
IGL01366:Vmn1r21	APN	6	57,820,799 (GRCm39)	missense	probably benign	0.01
IGL01660:Vmn1r21	APN	6	57,821,222 (GRCm39)	missense	probably damaging	0.99
IGL02864:Vmn1r21	APN	6	57,820,661 (GRCm39)	missense	probably benign	0.13
IGL02961:Vmn1r21	APN	6	57,820,974 (GRCm39)	missense	probably benign	0.01
IGL03170:Vmn1r21	APN	6	57,820,847 (GRCm39)	missense	probably damaging	0.99
PIT4453001:Vmn1r21	UTSW	6	57,821,307 (GRCm39)	missense	probably benign	0.04
R1800:Vmn1r21	UTSW	6	57,820,799 (GRCm39)	missense	probably benign	0.01
R1928:Vmn1r21	UTSW	6	57,821,077 (GRCm39)	nonsense	probably null
R3407:Vmn1r21	UTSW	6	57,820,877 (GRCm39)	missense	probably damaging	1.00
R5566:Vmn1r21	UTSW	6	57,821,079 (GRCm39)	missense	probably benign	0.06
R6012:Vmn1r21	UTSW	6	57,820,891 (GRCm39)	missense	probably damaging	1.00
R6473:Vmn1r21	UTSW	6	57,820,583 (GRCm39)	missense	probably damaging	0.99
R7128:Vmn1r21	UTSW	6	57,820,936 (GRCm39)	missense	probably damaging	0.97
R7489:Vmn1r21	UTSW	6	57,820,877 (GRCm39)	missense	probably damaging	1.00
R7559:Vmn1r21	UTSW	6	57,821,227 (GRCm39)	missense	probably damaging	0.99
R8002:Vmn1r21	UTSW	6	57,821,199 (GRCm39)	missense	probably benign	0.00
R8218:Vmn1r21	UTSW	6	57,820,910 (GRCm39)	missense	noncoding transcript
R8467:Vmn1r21	UTSW	6	57,821,441 (GRCm39)	start codon destroyed	probably null	1.00
R8922:Vmn1r21	UTSW	6	57,820,829 (GRCm39)	missense	probably damaging	1.00
R8930:Vmn1r21	UTSW	6	57,820,998 (GRCm39)	missense	probably benign	0.01
R8932:Vmn1r21	UTSW	6	57,820,998 (GRCm39)	missense	probably benign	0.01
R8961:Vmn1r21	UTSW	6	57,820,829 (GRCm39)	missense	probably damaging	1.00
R9154:Vmn1r21	UTSW	6	57,821,348 (GRCm39)	missense	probably benign	0.36
Z1176:Vmn1r21	UTSW	6	57,820,563 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GACCTTCATCTGGTGAGTCTC -3'
(R):5'- AATACTGTCCTTTACTTCCAAGCTG -3'

Sequencing Primer
(F):5'- GAGTCTCACTCATATTGGTAAAACC -3'
(R):5'- CCAAGCTGGATTTGGAGTCC -3'

Posted On

2018-03-15