Mutagenetix > Incidental Mutation

Incidental Mutation 'R4559:Or51q1'

342988

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

041785-MU

Accession Numbers

Essential gene?

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

Stock #

R4559 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103628383-103629348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103628767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 123 (D123N)

Ref Sequence

ENSEMBL: ENSMUSP00000148103 (fasta)

Gene Model

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

AlphaFold

K7N6B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000098185
AA Change: D129N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095788
Gene: ENSMUSG00000094520
AA Change: D129N

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

probably damaging
Transcript: ENSMUST00000209473
AA Change: D123N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.5569

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (56/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017G19Rik	A	G	3: 40,567,240 (GRCm39)		noncoding transcript	Het
1700066M21Rik	T	C	1: 57,422,083 (GRCm39)	F153S	possibly damaging	Het
Acss1	A	G	2: 150,480,405 (GRCm39)	V222A	probably benign	Het
Atad2b	A	G	12: 4,993,223 (GRCm39)	I247M	probably benign	Het
Atxn10	A	G	15: 85,322,321 (GRCm39)	I398V	possibly damaging	Het
Cep192	T	A	18: 68,004,584 (GRCm39)	C2312S	probably damaging	Het
Cidea	C	T	18: 67,493,298 (GRCm39)	Q106*	probably null	Het
Cnga4	A	G	7: 105,054,892 (GRCm39)	T159A	probably damaging	Het
Cyp2j12	G	T	4: 96,001,194 (GRCm39)	S304R	probably damaging	Het
Dennd2b	A	G	7: 109,124,785 (GRCm39)	F665L	probably damaging	Het
Dsg4	T	A	18: 20,603,978 (GRCm39)	V815E	probably damaging	Het
Entrep1	G	A	19: 24,007,913 (GRCm39)	S130L	probably damaging	Het
Farp1	T	C	14: 121,510,213 (GRCm39)	M737T	probably damaging	Het
Fbn1	T	A	2: 125,193,634 (GRCm39)	D1395V	possibly damaging	Het
Fbn2	C	T	18: 58,209,146 (GRCm39)	M1076I	probably benign	Het
Fitm2	T	A	2: 163,314,593 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,929,148 (GRCm39)	R3851G	probably damaging	Het
Frem2	C	T	3: 53,561,742 (GRCm39)	V922I	probably benign	Het
Gm10719	A	T	9: 3,018,945 (GRCm39)	T200S	probably benign	Het
Grin3a	T	C	4: 49,844,555 (GRCm39)	D176G	probably damaging	Het
Hdac5	T	C	11: 102,089,928 (GRCm39)		probably benign	Het
Ift140	C	A	17: 25,309,741 (GRCm39)	H1090Q	probably damaging	Het
Il20ra	A	G	10: 19,625,032 (GRCm39)	T104A	probably damaging	Het
Il22ra2	A	G	10: 19,502,460 (GRCm39)	D93G	possibly damaging	Het
Ing1	A	G	8: 11,612,090 (GRCm39)	K176R	probably benign	Het
Jph1	A	T	1: 17,074,735 (GRCm39)	C428S	probably benign	Het
Kif13b	G	T	14: 65,043,581 (GRCm39)	G1794W	probably damaging	Het
Map10	A	G	8: 126,398,553 (GRCm39)	T649A	probably benign	Het
Med12l	T	C	3: 58,914,523 (GRCm39)		probably null	Het
Nat8f1	A	G	6: 85,887,567 (GRCm39)	I131T	probably benign	Het
Oas1d	C	A	5: 121,054,958 (GRCm39)	Q177K	probably benign	Het
Or4a74	C	A	2: 89,440,043 (GRCm39)	M134I	probably damaging	Het
P2ry2	A	G	7: 100,647,363 (GRCm39)	V314A	possibly damaging	Het
Pabir2	G	A	X: 52,349,554 (GRCm39)		probably benign	Het
Pfkl	G	T	10: 77,824,717 (GRCm39)	R691S	probably benign	Het
Plb1	T	A	5: 32,490,175 (GRCm39)	I1005N	probably damaging	Het
Prkacb	A	G	3: 146,451,147 (GRCm39)		probably benign	Het
Ptprm	A	T	17: 66,990,403 (GRCm39)	Y1412N	possibly damaging	Het
Rab22a	A	G	2: 173,503,226 (GRCm39)	D13G	probably damaging	Het
Rab29	G	A	1: 131,800,305 (GRCm39)	W201*	probably null	Het
Rasa3	T	C	8: 13,648,259 (GRCm39)	E135G	probably damaging	Het
Rassf10	A	G	7: 112,554,338 (GRCm39)	E313G	probably benign	Het
Sf1	GGCAGCAGCAGCAGCAGCAGC	GGCAGCAGCAGCAGCAGC	19: 6,424,845 (GRCm39)		probably benign	Het
Sipa1l3	A	T	7: 29,031,678 (GRCm39)	L468Q	probably damaging	Het
Slc17a1	A	T	13: 24,062,695 (GRCm39)	K254*	probably null	Het
Slc6a12	G	A	6: 121,340,820 (GRCm39)		probably null	Het
Slfn8	A	G	11: 82,895,570 (GRCm39)	L412P	probably damaging	Het
Taf4b	T	C	18: 14,946,583 (GRCm39)	S469P	probably damaging	Het
Tgoln1	T	C	6: 72,592,664 (GRCm39)	E272G	probably damaging	Het
Tlr12	C	A	4: 128,509,563 (GRCm39)	G896W	probably damaging	Het
Tnfrsf1a	A	G	6: 125,337,729 (GRCm39)	I229V	probably benign	Het
Ttn	G	A	2: 76,749,890 (GRCm39)	H3720Y	probably benign	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
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
R5617:Or51q1	UTSW	7	103,628,921 (GRCm39)	missense	possibly damaging	0.91
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'- TATCCGCACAGAGCCATCTC -3'
(R):5'- ATATCCTGGTGGAGGCAGTAG -3'

Sequencing Primer
(F):5'- ATCTCTCCACCAGCCCATGTAC -3'
(R):5'- CTGGTGGAGGCAGTAGGAGTG -3'

Posted On

2015-09-24