Mutagenetix > Incidental Mutation

Incidental Mutation 'R6275:Or51q1'

507579

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

044445-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R6275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103628383-103629348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103629181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 261 (S261T)

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: S267T

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

SMART Domains

Protein: ENSMUSP00000095788
Gene: ENSMUSG00000094520
AA Change: S267T

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: S261T

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

Meta Mutation Damage Score

0.3951

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,833,625 (GRCm39)	L30H	probably damaging	Het
Abcb6	T	C	1: 75,149,195 (GRCm39)		probably null	Het
Acsbg1	T	A	9: 54,517,056 (GRCm39)	M586L	probably benign	Het
Ano6	A	T	15: 95,811,314 (GRCm39)	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,830,575 (GRCm39)	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,531,519 (GRCm39)	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,036,489 (GRCm39)	M144I	probably damaging	Het
Cdca3	C	T	6: 124,809,627 (GRCm39)		probably null	Het
Ces1h	A	T	8: 94,099,274 (GRCm39)	L93I	probably benign	Het
Cntfr	T	C	4: 41,663,216 (GRCm39)	D197G	possibly damaging	Het
Cyp2d12	C	A	15: 82,440,859 (GRCm39)	P126T	probably benign	Het
Dnah10	A	G	5: 124,862,248 (GRCm39)	T2225A	probably damaging	Het
Edrf1	A	T	7: 133,269,311 (GRCm39)	N1147Y	possibly damaging	Het
Eif1ad15	T	C	12: 88,287,995 (GRCm39)	D86G	possibly damaging	Het
Eif1ad16	T	C	12: 87,985,255 (GRCm39)	N96S	probably benign	Het
Ermap	C	T	4: 119,035,747 (GRCm39)	V414M	probably damaging	Het
Fam13a	A	G	6: 58,931,242 (GRCm39)	I446T	probably damaging	Het
Fgfbp3	T	C	19: 36,896,153 (GRCm39)	H155R	possibly damaging	Het
Folr1	T	A	7: 101,508,742 (GRCm39)	N61I	probably damaging	Het
Fsip1	T	C	2: 118,035,583 (GRCm39)	I431V	probably benign	Het
Gm5493	A	T	17: 22,969,043 (GRCm39)	E74D	probably benign	Het
H2-Oa	A	G	17: 34,313,540 (GRCm39)	D197G	probably benign	Het
Hps1	T	C	19: 42,758,046 (GRCm39)	E169G	probably null	Het
Il17rc	A	T	6: 113,457,308 (GRCm39)	M372L	probably benign	Het
Itga10	A	G	3: 96,565,501 (GRCm39)	S1042G	probably benign	Het
Jchain	A	T	5: 88,669,212 (GRCm39)	V147E	probably damaging	Het
Laptm4b	A	G	15: 34,283,473 (GRCm39)	T211A	probably benign	Het
Mal2	T	C	15: 54,435,035 (GRCm39)		probably null	Het
Mov10l1	T	A	15: 88,910,823 (GRCm39)	I1071N	probably damaging	Het
Mpp2	T	A	11: 101,951,795 (GRCm39)	Y401F	probably damaging	Het
Myh15	A	G	16: 48,965,610 (GRCm39)	T1172A	probably benign	Het
Pcnx1	G	T	12: 81,965,381 (GRCm39)	S516I	probably benign	Het
Pidd1	C	T	7: 141,019,708 (GRCm39)	A685T	probably damaging	Het
Psg28	A	C	7: 18,164,365 (GRCm39)	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,329,458 (GRCm39)		probably benign	Het
Rapgefl1	T	A	11: 98,741,946 (GRCm39)	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,691,206 (GRCm39)	M66K	probably damaging	Het
Rnf38	T	A	4: 44,152,408 (GRCm39)	H52L	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Sec62	A	G	3: 30,863,985 (GRCm39)	Q89R	probably damaging	Het
Serpina6	T	A	12: 103,614,979 (GRCm39)	Q289L	probably benign	Het
Sf3b2	A	C	19: 5,333,678 (GRCm39)	I640S	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc26a11	T	C	11: 119,250,125 (GRCm39)	F127L	probably benign	Het
Spata31h1	T	C	10: 82,121,202 (GRCm39)	D3936G	probably damaging	Het
Stac3	T	A	10: 127,343,615 (GRCm39)	Y252*	probably null	Het
Stoml3	G	A	3: 53,414,927 (GRCm39)	A240T	probably damaging	Het
Tanc1	A	T	2: 59,673,854 (GRCm39)	H1653L	probably benign	Het
Tll1	A	T	8: 64,504,401 (GRCm39)	L665*	probably null	Het
Tnr	A	C	1: 159,688,840 (GRCm39)	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,511,354 (GRCm39)	D165E	probably benign	Het
Tsc2	A	G	17: 24,819,394 (GRCm39)	V1185A	probably benign	Het
Tulp4	A	G	17: 6,249,011 (GRCm39)	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,261,980 (GRCm39)	M72K	possibly damaging	Het
Usp42	G	A	5: 143,700,727 (GRCm39)	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883 (GRCm39)	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,418,972 (GRCm39)	L659*	probably null	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
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
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'- ACGGATTTGCTCTTGTCCTG -3'
(R):5'- AGCAAATGTTCCATTCCACATC -3'

Sequencing Primer
(F):5'- GTCCTGCTCATTATTGTATTGGAC -3'
(R):5'- ATAAACTTCAGTCTTCAGTGCACC -3'

Posted On

2018-03-15