Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Vmn2r56'

602557

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r56

Ensembl Gene

ENSMUSG00000090762

Gene Name

vomeronasal 2, receptor 56

Synonyms

EG629079

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

RF002 (G1)

Quality Score

91.0077

Status

Not validated

Chromosome

Chromosomal Location

12427787-12468785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12428757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 503 (T503I)

Ref Sequence

ENSEMBL: ENSMUSP00000129566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163852]

AlphaFold

A0A3B2WBA1

Predicted Effect

probably benign
Transcript: ENSMUST00000163852
AA Change: T503I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000129566
Gene: ENSMUSG00000090762
AA Change: T503I

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	5	397	1.9e-55	PFAM
Pfam:NCD3G	439	492	6.4e-20	PFAM
Pfam:7tm_3	523	760	1.3e-53	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,475,262 (GRCm39)		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,475,263 (GRCm39)		probably benign	Het
Angptl1	A	T	1: 156,684,794 (GRCm39)	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 52,043,050 (GRCm39)		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,162,653 (GRCm39)		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,162,675 (GRCm39)		probably benign	Het
Car13	T	C	3: 14,719,974 (GRCm39)	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,619,805 (GRCm39)		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,619,810 (GRCm39)		probably benign	Het
Cdh26	T	C	2: 178,108,424 (GRCm39)	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,527,680 (GRCm39)		probably benign	Het
Col11a1	A	T	3: 114,010,650 (GRCm39)	I1689L	unknown	Het
Dnah6	T	G	6: 73,078,872 (GRCm39)	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,674,160 (GRCm39)		probably benign	Het
Fah	A	C	7: 84,238,836 (GRCm39)	N336K	probably damaging	Het
Fbxo11	A	T	17: 88,303,481 (GRCm39)	I664K		Het
Fcgbp	A	G	7: 27,789,180 (GRCm39)	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 71,313,663 (GRCm39)		probably null	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,149,944 (GRCm39)		probably null	Het
Gm1110	A	G	9: 26,831,936 (GRCm39)	Y72H	probably damaging	Het
Inpp5e	C	T	2: 26,298,389 (GRCm39)	A71T	possibly damaging	Het
Iqcm	C	T	8: 76,304,527 (GRCm39)	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 92,925,590 (GRCm39)		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 92,925,606 (GRCm39)		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 75,185,014 (GRCm39)		probably benign	Het
Lyst	A	G	13: 13,808,948 (GRCm39)	D206G	probably benign	Het
Map4k5	A	T	12: 69,903,630 (GRCm39)	D58E	probably damaging	Het
Mapkapk2	A	G	1: 130,984,250 (GRCm39)	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,702,545 (GRCm39)		probably benign	Het
Men1	T	C	19: 6,390,146 (GRCm39)	S600P	probably damaging	Het
Mllt1	C	T	17: 57,203,300 (GRCm39)	V394M	probably benign	Het
Mllt1	C	A	17: 57,203,301 (GRCm39)	M393I	possibly damaging	Het
Nacc1	T	C	8: 85,402,848 (GRCm39)	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,891,047 (GRCm39)		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,050 (GRCm39)		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,801,434 (GRCm39)		probably benign	Het
Or5b122	T	A	19: 13,563,415 (GRCm39)	I206N	probably damaging	Het
Parp2	A	G	14: 51,054,843 (GRCm39)	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,006,686 (GRCm39)		probably null	Het
Pop1	G	A	15: 34,502,583 (GRCm39)	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,504,788 (GRCm39)	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,600,829 (GRCm39)	D810N	probably damaging	Het
Prpf4b	T	A	13: 35,068,219 (GRCm39)	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,756,780 (GRCm39)		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,756,784 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,776,078 (GRCm39)	E208G	probably benign	Het
Smurf2	G	T	11: 106,743,413 (GRCm39)	P211Q	probably benign	Het
Snx25	C	A	8: 46,569,218 (GRCm39)		probably null	Het
Spata6	T	A	4: 111,685,502 (GRCm39)	M469K	probably benign	Het
Spta1	G	T	1: 174,058,926 (GRCm39)	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564 (GRCm39)		probably benign	Het
Stard8	GAG	GAGTAG	X: 98,110,121 (GRCm39)		probably null	Het
Tfeb	AGC	AGCGGC	17: 48,097,027 (GRCm39)		probably benign	Het
Tlcd1	T	A	11: 78,071,020 (GRCm39)	L203Q	probably benign	Het
Tlr11	T	C	14: 50,598,682 (GRCm39)	F223L	possibly damaging	Het
Usp48	T	A	4: 137,333,106 (GRCm39)	V100D	probably damaging	Het
Vinac1	A	G	2: 128,880,714 (GRCm39)	F404S		Het
Vps18	T	C	2: 119,127,871 (GRCm39)	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp706	T	A	15: 37,003,949 (GRCm39)	Y39F	probably benign	Het
Zhx3	T	A	2: 160,623,726 (GRCm39)	N147I	probably damaging	Het

Other mutations in Vmn2r56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Vmn2r56	APN	7	12,449,426 (GRCm39)	missense	probably benign	0.38
IGL01060:Vmn2r56	APN	7	12,447,016 (GRCm39)	missense	probably damaging	0.97
IGL01433:Vmn2r56	APN	7	12,449,541 (GRCm39)	missense	probably benign
IGL01859:Vmn2r56	APN	7	12,449,932 (GRCm39)	missense	probably damaging	1.00
IGL01874:Vmn2r56	APN	7	12,449,602 (GRCm39)	missense	probably benign	0.03
IGL02208:Vmn2r56	APN	7	12,449,408 (GRCm39)	missense	probably benign	0.01
PIT4445001:Vmn2r56	UTSW	7	12,449,153 (GRCm39)	critical splice donor site	probably null
R0077:Vmn2r56	UTSW	7	12,449,332 (GRCm39)	missense	probably benign	0.01
R0278:Vmn2r56	UTSW	7	12,449,644 (GRCm39)	missense	probably damaging	0.99
R0512:Vmn2r56	UTSW	7	12,449,350 (GRCm39)	missense	probably benign
R0658:Vmn2r56	UTSW	7	12,444,235 (GRCm39)	missense	probably benign	0.10
R0789:Vmn2r56	UTSW	7	12,466,762 (GRCm39)	missense	probably damaging	1.00
R1534:Vmn2r56	UTSW	7	12,427,954 (GRCm39)	missense	probably benign
R1731:Vmn2r56	UTSW	7	12,466,972 (GRCm39)	missense	probably benign
R1817:Vmn2r56	UTSW	7	12,449,542 (GRCm39)	missense	probably benign
R2047:Vmn2r56	UTSW	7	12,466,918 (GRCm39)	missense	probably damaging	1.00
R2139:Vmn2r56	UTSW	7	12,446,890 (GRCm39)	nonsense	probably null
R2160:Vmn2r56	UTSW	7	12,428,146 (GRCm39)	missense	probably benign	0.43
R2449:Vmn2r56	UTSW	7	12,428,082 (GRCm39)	missense	possibly damaging	0.67
R2877:Vmn2r56	UTSW	7	12,444,954 (GRCm39)	missense	probably benign
R2878:Vmn2r56	UTSW	7	12,444,954 (GRCm39)	missense	probably benign
R4910:Vmn2r56	UTSW	7	12,449,462 (GRCm39)	missense	possibly damaging	0.64
R5072:Vmn2r56	UTSW	7	12,427,983 (GRCm39)	missense	probably benign	0.40
R5340:Vmn2r56	UTSW	7	12,449,799 (GRCm39)	missense	probably damaging	1.00
R5697:Vmn2r56	UTSW	7	12,449,917 (GRCm39)	missense	probably damaging	1.00
R5798:Vmn2r56	UTSW	7	12,446,892 (GRCm39)	missense	probably benign	0.00
R6166:Vmn2r56	UTSW	7	12,427,947 (GRCm39)	missense	probably damaging	1.00
R6290:Vmn2r56	UTSW	7	12,428,809 (GRCm39)	missense	probably damaging	1.00
R6458:Vmn2r56	UTSW	7	12,427,984 (GRCm39)	missense	probably damaging	0.99
R6751:Vmn2r56	UTSW	7	12,428,719 (GRCm39)	missense	probably benign
R6978:Vmn2r56	UTSW	7	12,449,333 (GRCm39)	missense	probably benign	0.01
R7090:Vmn2r56	UTSW	7	12,449,254 (GRCm39)	missense	probably damaging	1.00
R7200:Vmn2r56	UTSW	7	12,444,259 (GRCm39)	missense	probably damaging	1.00
R7861:Vmn2r56	UTSW	7	12,449,351 (GRCm39)	missense	probably benign	0.00
R8222:Vmn2r56	UTSW	7	12,444,960 (GRCm39)	missense	probably benign
R8282:Vmn2r56	UTSW	7	12,449,601 (GRCm39)	nonsense	probably null
R8786:Vmn2r56	UTSW	7	12,449,393 (GRCm39)	missense	probably damaging	1.00
R8970:Vmn2r56	UTSW	7	12,428,632 (GRCm39)	missense	probably damaging	1.00
R9230:Vmn2r56	UTSW	7	12,444,237 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- GTCTCCCAAGGAAGAGCAAG -3'
(R):5'- CTGGGTCGCCAAGAATAATTC -3'

Sequencing Primer
(F):5'- CACACAGGGCACACAGGG -3'
(R):5'- AATATATTAATTGATGGAGAGGGTGC -3'

Posted On

2019-12-04