Mutagenetix > Incidental Mutation

Incidental Mutation 'R1878:Or51v8'

211305

Institutional Source

Beutler Lab

Gene Symbol

Or51v8

Ensembl Gene

ENSMUSG00000045780

Gene Name

olfactory receptor family 51 subfamily V member 8

Synonyms

Olfr624, MOR4-2P, GA_x6K02T2PBJ9-6394126-6393197

MMRRC Submission

039899-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R1878 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103319310-103320236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103319389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 283 (M283R)

Ref Sequence

ENSEMBL: ENSMUSP00000049938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062144]

AlphaFold

F8VQI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000062144
AA Change: M283R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049938
Gene: ENSMUSG00000045780
AA Change: M283R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	27	306	3.3e-138	PFAM
Pfam:7tm_1	37	288	1.8e-19	PFAM

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,825,564 (GRCm39)		probably null	Het
Abcb9	A	G	5: 124,228,199 (GRCm39)	V14A	probably benign	Het
Adcy4	T	C	14: 56,007,362 (GRCm39)	D950G	probably damaging	Het
Ahctf1	T	C	1: 179,603,074 (GRCm39)	D828G	possibly damaging	Het
Ak2	T	A	4: 128,895,960 (GRCm39)	V79D	probably damaging	Het
Arhgap29	T	C	3: 121,805,020 (GRCm39)	Y870H	probably damaging	Het
Arid4a	A	G	12: 71,134,363 (GRCm39)	K1222E	probably damaging	Het
Armc1	A	T	3: 19,211,708 (GRCm39)	D37E	probably damaging	Het
Cenpm	A	T	15: 82,118,616 (GRCm39)	M166K	probably benign	Het
Cep97	G	T	16: 55,725,589 (GRCm39)	P766Q	probably damaging	Het
Col19a1	G	T	1: 24,356,476 (GRCm39)	D672E	probably benign	Het
Col6a2	T	C	10: 76,450,622 (GRCm39)	D103G	probably benign	Het
Ddi2	T	C	4: 141,411,460 (GRCm39)	E484G	probably benign	Het
Dph1	T	C	11: 75,075,053 (GRCm39)	D100G	probably damaging	Het
Dsp	A	T	13: 38,348,831 (GRCm39)	I100F	possibly damaging	Het
Fam222b	T	C	11: 78,034,042 (GRCm39)		probably null	Het
Folh1	A	T	7: 86,420,950 (GRCm39)	H126Q	probably benign	Het
Gapvd1	A	T	2: 34,615,212 (GRCm39)	D428E	probably benign	Het
Gfus	A	G	15: 75,797,218 (GRCm39)	S306P	probably benign	Het
Gm11564	A	T	11: 99,706,266 (GRCm39)	C55S	unknown	Het
Gne	T	C	4: 44,040,434 (GRCm39)	I577V	probably damaging	Het
Gpr4	A	G	7: 18,957,049 (GRCm39)	T324A	probably damaging	Het
Hhipl1	A	T	12: 108,286,319 (GRCm39)	N542I	possibly damaging	Het
Ice2	T	C	9: 69,335,858 (GRCm39)		probably null	Het
Irgm1	C	T	11: 48,756,897 (GRCm39)	V305I	probably benign	Het
Itgal	C	A	7: 126,909,843 (GRCm39)	Q73K	probably benign	Het
Jcad	C	A	18: 4,673,857 (GRCm39)	H540N	possibly damaging	Het
Jkamp	T	A	12: 72,140,878 (GRCm39)	V141D	possibly damaging	Het
Lrrc9	T	C	12: 72,522,938 (GRCm39)		probably null	Het
Mcc	T	C	18: 44,601,467 (GRCm39)	R621G	possibly damaging	Het
Myd88	T	A	9: 119,167,686 (GRCm39)	Q140L	probably benign	Het
Mylk3	A	T	8: 86,082,028 (GRCm39)	N323K	possibly damaging	Het
Myrip	C	T	9: 120,253,721 (GRCm39)	R265W	probably damaging	Het
N4bp1	A	T	8: 87,588,169 (GRCm39)	S256R	probably damaging	Het
Nhsl1	T	G	10: 18,400,027 (GRCm39)	S418A	probably damaging	Het
Nlrp9b	A	G	7: 19,762,489 (GRCm39)	T269A	probably benign	Het
Nmt1	A	G	11: 102,943,077 (GRCm39)	N144S	probably benign	Het
Npvf	G	A	6: 50,631,303 (GRCm39)	T24I	probably benign	Het
Obscn	T	G	11: 58,886,379 (GRCm39)	Y2347S	probably damaging	Het
Or10d5	T	A	9: 39,862,053 (GRCm39)	T5S	probably benign	Het
Or14j1	T	C	17: 38,146,253 (GRCm39)	V121A	probably benign	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or2aj5	G	T	16: 19,424,501 (GRCm39)	Q306K	probably benign	Het
Or2n1c	T	C	17: 38,519,265 (GRCm39)	I43T	probably benign	Het
Or4c105	A	G	2: 88,647,805 (GRCm39)	T97A	probably benign	Het
Or7a42	T	A	10: 78,791,639 (GRCm39)	M200K	possibly damaging	Het
Osgin2	A	T	4: 16,005,493 (GRCm39)	V131D	probably damaging	Het
Pcdhac2	A	T	18: 37,278,215 (GRCm39)	K398N	possibly damaging	Het
Pcnp	A	T	16: 55,838,850 (GRCm39)	M143K	probably damaging	Het
Ppp3ca	A	G	3: 136,503,639 (GRCm39)	I71V	probably benign	Het
Ppp4c	G	T	7: 126,386,779 (GRCm39)	R103S	probably damaging	Het
Prl2c2	T	A	13: 13,179,911 (GRCm39)	M1L	probably damaging	Het
Recql5	A	T	11: 115,785,927 (GRCm39)	D615E	probably benign	Het
Robo3	T	C	9: 37,333,461 (GRCm39)	E728G	probably damaging	Het
Rps27l	T	A	9: 66,854,911 (GRCm39)		probably null	Het
Scube3	T	A	17: 28,371,387 (GRCm39)	V34E	probably benign	Het
Sez6l	A	G	5: 112,623,089 (GRCm39)	I154T	probably damaging	Het
Sgsm1	G	A	5: 113,411,381 (GRCm39)	L782F	probably damaging	Het
Slc35c1	A	G	2: 92,289,398 (GRCm39)	V36A	probably benign	Het
Snapc4	A	G	2: 26,266,165 (GRCm39)		probably null	Het
Sohlh2	C	A	3: 55,115,064 (GRCm39)	R350S	probably damaging	Het
Spag1	G	A	15: 36,181,916 (GRCm39)	E25K	probably damaging	Het
Sspo	G	A	6: 48,436,300 (GRCm39)	A1217T	possibly damaging	Het
Stil	T	C	4: 114,898,423 (GRCm39)	S1018P	probably damaging	Het
Strn	T	C	17: 78,984,755 (GRCm39)	E117G	possibly damaging	Het
Syt17	A	T	7: 118,033,468 (GRCm39)	M180K	probably benign	Het
Trem1	T	C	17: 48,548,516 (GRCm39)	S18P	possibly damaging	Het
Umad1	T	A	6: 8,427,181 (GRCm39)	F145I	probably damaging	Het
Unc80	A	C	1: 66,548,561 (GRCm39)	H611P	probably damaging	Het
Zfp1004	T	A	2: 150,034,989 (GRCm39)	C437S	probably damaging	Het
Zfp709	A	G	8: 72,643,891 (GRCm39)	E440G	probably damaging	Het
Zfp764	C	A	7: 127,004,214 (GRCm39)	A306S	probably benign	Het
Zfp949	T	A	9: 88,451,356 (GRCm39)	S309T	probably damaging	Het
Zswim4	T	C	8: 84,939,405 (GRCm39)	N826D	possibly damaging	Het

Other mutations in Or51v8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02419:Or51v8	APN	7	103,319,682 (GRCm39)	nonsense	probably null
IGL02536:Or51v8	APN	7	103,320,164 (GRCm39)	missense	possibly damaging	0.78
IGL02684:Or51v8	APN	7	103,319,591 (GRCm39)	missense	probably benign	0.06
FR4548:Or51v8	UTSW	7	103,320,174 (GRCm39)	nonsense	probably null
FR4548:Or51v8	UTSW	7	103,320,167 (GRCm39)	small insertion	probably benign
FR4976:Or51v8	UTSW	7	103,320,173 (GRCm39)	small insertion	probably benign
R0295:Or51v8	UTSW	7	103,319,518 (GRCm39)	missense	probably damaging	1.00
R0518:Or51v8	UTSW	7	103,319,696 (GRCm39)	missense	possibly damaging	0.56
R0521:Or51v8	UTSW	7	103,319,696 (GRCm39)	missense	possibly damaging	0.56
R1352:Or51v8	UTSW	7	103,319,518 (GRCm39)	missense	probably damaging	1.00
R1779:Or51v8	UTSW	7	103,319,845 (GRCm39)	missense	probably benign	0.15
R1965:Or51v8	UTSW	7	103,320,103 (GRCm39)	missense	probably damaging	1.00
R2162:Or51v8	UTSW	7	103,320,079 (GRCm39)	missense	possibly damaging	0.95
R2316:Or51v8	UTSW	7	103,319,674 (GRCm39)	missense	probably damaging	0.97
R3792:Or51v8	UTSW	7	103,319,353 (GRCm39)	missense	probably damaging	1.00
R3848:Or51v8	UTSW	7	103,319,908 (GRCm39)	missense	probably damaging	0.99
R4120:Or51v8	UTSW	7	103,320,221 (GRCm39)	missense	probably benign
R4183:Or51v8	UTSW	7	103,320,178 (GRCm39)	missense	possibly damaging	0.87
R4853:Or51v8	UTSW	7	103,320,010 (GRCm39)	missense	probably damaging	1.00
R6351:Or51v8	UTSW	7	103,320,163 (GRCm39)	missense	possibly damaging	0.50
R7717:Or51v8	UTSW	7	103,320,152 (GRCm39)	missense	probably benign
R9091:Or51v8	UTSW	7	103,320,124 (GRCm39)	missense	probably damaging	1.00
R9270:Or51v8	UTSW	7	103,320,124 (GRCm39)	missense	probably damaging	1.00
R9273:Or51v8	UTSW	7	103,319,633 (GRCm39)	missense	probably benign	0.03
R9378:Or51v8	UTSW	7	103,319,389 (GRCm39)	missense	probably damaging	1.00
X0026:Or51v8	UTSW	7	103,319,602 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCCACTCATACTTGTCAGCAC -3'
(R):5'- ATCGATTGCATCCAGGGAGG -3'

Sequencing Primer
(F):5'- TTCATGATGGCTGTGGTAAAAAG -3'
(R):5'- GAGAGAATCAAGTCTTTGCAAACATG -3'

Posted On

2014-06-30