Mutagenetix > Incidental Mutation

Incidental Mutation 'R5617:Or51q1'

439580

Institutional Source

Beutler Lab

Gene Symbol

Or51q1

Ensembl Gene

ENSMUSG00000094520

Gene Name

olfactory receptor family 51 subfamily Q member 1

Synonyms

Olfr635, GA_x6K02T2PBJ9-6713641-6714588, MOR5-2

MMRRC Submission

043276-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R5617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103628383-103629348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103628921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 180 (H180L)

Ref Sequence

ENSEMBL: ENSMUSP00000095788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098185] [ENSMUST00000209473]

AlphaFold

K7N6B1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098185
AA Change: H180L

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095788
Gene: ENSMUSG00000094520
AA Change: H180L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	39	318	1.2e-119	PFAM
Pfam:7TM_GPCR_Srsx	43	182	1.3e-9	PFAM
Pfam:7tm_1	49	300	1.9e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121874

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209473
AA Change: H174L

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.3693

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (59/59)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,227,891 (GRCm39)	L645F	probably benign	Het
Acss3	T	C	10: 106,787,851 (GRCm39)	Y522C	probably damaging	Het
Asb18	A	G	1: 89,882,184 (GRCm39)	V118A	possibly damaging	Het
Aste1	T	A	9: 105,275,034 (GRCm39)	C8S	probably benign	Het
Atp10a	A	G	7: 58,453,423 (GRCm39)	S834G	probably benign	Het
Cdh18	A	G	15: 23,226,854 (GRCm39)	D105G	probably damaging	Het
Cenpb	T	C	2: 131,020,934 (GRCm39)	E288G	probably damaging	Het
Clcnka	C	T	4: 141,116,628 (GRCm39)	G541D	probably null	Het
Dctn3	T	C	4: 41,716,407 (GRCm39)	I134V	possibly damaging	Het
Dennd4b	T	C	3: 90,182,933 (GRCm39)	S917P	probably benign	Het
Fam135b	A	T	15: 71,493,865 (GRCm39)	D21E	probably damaging	Het
Fam174a	T	C	1: 95,241,972 (GRCm39)	V144A	probably damaging	Het
Fbxo38	A	G	18: 62,639,042 (GRCm39)	Y1087H	probably damaging	Het
Gm7275	A	T	16: 47,894,527 (GRCm39)		noncoding transcript	Het
Gm9271	G	T	7: 39,013,076 (GRCm39)		noncoding transcript	Het
Grm2	T	C	9: 106,528,275 (GRCm39)		probably null	Het
Htt	T	A	5: 35,028,150 (GRCm39)	V1802D	possibly damaging	Het
Ighv1-75	C	A	12: 115,797,874 (GRCm39)	G16V	probably benign	Het
Krt78	G	A	15: 101,856,044 (GRCm39)	T589I	probably damaging	Het
Lama3	T	C	18: 12,631,993 (GRCm39)		probably benign	Het
Lbr	A	T	1: 181,656,467 (GRCm39)	V227D	probably benign	Het
Lsamp	T	C	16: 41,954,786 (GRCm39)	V211A	probably damaging	Het
Map3k19	G	A	1: 127,750,703 (GRCm39)	R883C	probably damaging	Het
Marchf8	A	C	6: 116,380,481 (GRCm39)	I111L	possibly damaging	Het
Mrps10	T	A	17: 47,689,167 (GRCm39)	M187K	probably benign	Het
Ncdn	G	A	4: 126,638,840 (GRCm39)	R660C	probably damaging	Het
Notum	A	T	11: 120,547,171 (GRCm39)	Y332*	probably null	Het
Nr1h5	A	T	3: 102,855,145 (GRCm39)	L319I	probably damaging	Het
Or8k35	T	A	2: 86,424,345 (GRCm39)	I276L	probably benign	Het
Osbpl5	T	C	7: 143,246,684 (GRCm39)	D765G	possibly damaging	Het
Parp3	C	T	9: 106,351,704 (GRCm39)	V170M	possibly damaging	Het
Pcdh15	A	G	10: 74,471,504 (GRCm39)		probably benign	Het
Pcdha9	T	G	18: 37,131,869 (GRCm39)	S313A	probably benign	Het
Pfkm	A	G	15: 98,020,107 (GRCm39)	R201G	possibly damaging	Het
Pgm5	G	A	19: 24,727,765 (GRCm39)	R375*	probably null	Het
Phactr2	A	G	10: 13,349,809 (GRCm39)	S72P	possibly damaging	Het
Plaat1	A	T	16: 29,039,162 (GRCm39)	R81*	probably null	Het
Plec	A	G	15: 76,058,732 (GRCm39)	L3600P	probably damaging	Het
Pou6f1	G	A	15: 100,483,874 (GRCm39)	T208M	possibly damaging	Het
Rabep1	C	T	11: 70,808,355 (GRCm39)	S394L	probably damaging	Het
Ranbp2	T	G	10: 58,301,489 (GRCm39)	F687C	probably damaging	Het
Ranbp6	A	G	19: 29,789,863 (GRCm39)	F163S	probably damaging	Het
Rcor3	T	C	1: 191,804,430 (GRCm39)	N240D	probably benign	Het
Samd13	C	A	3: 146,352,065 (GRCm39)	K95N	probably benign	Het
Slc25a17	G	T	15: 81,244,975 (GRCm39)		probably benign	Het
Slfn8	G	T	11: 82,895,547 (GRCm39)	H420N	probably benign	Het
Sptbn5	G	A	2: 119,876,965 (GRCm39)		probably benign	Het
Stim2	G	A	5: 54,267,075 (GRCm39)	E21K	probably damaging	Het
Tmem163	A	G	1: 127,479,067 (GRCm39)	Y151H	possibly damaging	Het
Trio	A	G	15: 27,902,834 (GRCm39)	I209T	probably benign	Het
Tubal3	T	A	13: 3,983,432 (GRCm39)	L404H	probably damaging	Het
Ubqln3	A	G	7: 103,791,640 (GRCm39)	F150S	probably damaging	Het
Ubr5	T	C	15: 38,030,901 (GRCm39)	S425G	possibly damaging	Het
Vmn2r52	T	A	7: 9,904,861 (GRCm39)	H326L	probably damaging	Het

Other mutations in Or51q1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Or51q1	APN	7	103,628,999 (GRCm39)	missense	probably benign	0.09
IGL01330:Or51q1	APN	7	103,629,349 (GRCm39)	utr 3 prime	probably benign
IGL01433:Or51q1	APN	7	103,628,539 (GRCm39)	missense	probably damaging	1.00
FR4304:Or51q1	UTSW	7	103,629,110 (GRCm39)	frame shift	probably null
FR4340:Or51q1	UTSW	7	103,629,110 (GRCm39)	frame shift	probably null
FR4342:Or51q1	UTSW	7	103,629,110 (GRCm39)	frame shift	probably null
R0271:Or51q1	UTSW	7	103,628,837 (GRCm39)	missense	possibly damaging	0.83
R1909:Or51q1	UTSW	7	103,628,997 (GRCm39)	nonsense	probably null
R2212:Or51q1	UTSW	7	103,628,609 (GRCm39)	missense	probably damaging	0.98
R2484:Or51q1	UTSW	7	103,628,545 (GRCm39)	missense	probably benign
R3412:Or51q1	UTSW	7	103,628,609 (GRCm39)	missense	probably damaging	0.98
R4513:Or51q1	UTSW	7	103,628,648 (GRCm39)	missense	probably benign	0.03
R4559:Or51q1	UTSW	7	103,628,767 (GRCm39)	missense	probably damaging	1.00
R5032:Or51q1	UTSW	7	103,628,581 (GRCm39)	missense	probably damaging	0.98
R5436:Or51q1	UTSW	7	103,628,473 (GRCm39)	missense	probably benign
R5591:Or51q1	UTSW	7	103,629,320 (GRCm39)	missense	probably benign	0.00
R5911:Or51q1	UTSW	7	103,628,915 (GRCm39)	missense	probably benign
R6249:Or51q1	UTSW	7	103,628,818 (GRCm39)	missense	possibly damaging	0.85
R6275:Or51q1	UTSW	7	103,629,181 (GRCm39)	missense	probably damaging	1.00
R6806:Or51q1	UTSW	7	103,628,771 (GRCm39)	missense	possibly damaging	0.72
R7589:Or51q1	UTSW	7	103,628,998 (GRCm39)	missense	probably damaging	1.00
R8188:Or51q1	UTSW	7	103,628,743 (GRCm39)	missense	probably damaging	1.00
R8337:Or51q1	UTSW	7	103,628,581 (GRCm39)	missense	probably damaging	0.98
R9106:Or51q1	UTSW	7	103,628,581 (GRCm39)	missense	probably damaging	0.98
R9507:Or51q1	UTSW	7	103,629,198 (GRCm39)	missense	probably damaging	1.00
R9592:Or51q1	UTSW	7	103,629,179 (GRCm39)	missense	possibly damaging	0.54
RF004:Or51q1	UTSW	7	103,629,110 (GRCm39)	frame shift	probably null
RF005:Or51q1	UTSW	7	103,628,768 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGAAATCAGCTTTGAGGCCTG -3'
(R):5'- CCAAGTGGCTGTGTTCAAGAC -3'

Sequencing Primer
(F):5'- ATGGAATCATCTGTTCTATTGGCC -3'
(R):5'- CACTCTTCAGGATAAGTGCATAGG -3'

Posted On

2016-11-08