Mutagenetix > Incidental Mutation

Incidental Mutation 'R6106:Or51ai2'

485510

Institutional Source

Beutler Lab

Gene Symbol

Or51ai2

Ensembl Gene

ENSMUSG00000073938

Gene Name

olfactory receptor family 51 subfamily AI member 2

Synonyms

GA_x6K02T2PBJ9-6671256-6672209, MOR2-1, Olfr632

MMRRC Submission

044256-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6106 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103586589-103587542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103587400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 271 (H271R)

Ref Sequence

ENSEMBL: ENSMUSP00000149598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098189] [ENSMUST00000214711]

AlphaFold

Q9EPN9

Predicted Effect

probably benign
Transcript: ENSMUST00000098189
AA Change: H271R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000095791
Gene: ENSMUSG00000073938
AA Change: H271R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	313	2.5e-109	PFAM
Pfam:7TM_GPCR_Srsx	39	232	7.5e-11	PFAM
Pfam:7tm_1	45	296	1.4e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214509

Predicted Effect

probably benign
Transcript: ENSMUST00000214711
AA Change: H271R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,879,838 (GRCm39)	E726G	probably damaging	Het
Adgrl4	A	G	3: 151,246,622 (GRCm39)	I641V	possibly damaging	Het
Apoa5	A	T	9: 46,181,931 (GRCm39)	R336*	probably null	Het
Bfsp2	T	A	9: 103,357,023 (GRCm39)	T135S	probably benign	Het
Calhm2	A	T	19: 47,121,501 (GRCm39)	Y223N	probably damaging	Het
Ccdc158	T	C	5: 92,775,325 (GRCm39)	E960G	probably benign	Het
Ccdc80	T	C	16: 44,917,073 (GRCm39)	S610P	probably benign	Het
Cdon	T	A	9: 35,366,704 (GRCm39)	Y193*	probably null	Het
Cept1	A	T	3: 106,410,992 (GRCm39)	H400Q	probably benign	Het
Cfap144	T	C	11: 58,687,427 (GRCm39)	E66G	probably damaging	Het
Clspn	T	A	4: 126,484,434 (GRCm39)	N1197K	probably benign	Het
Cnot8	T	C	11: 58,004,816 (GRCm39)	S172P	probably damaging	Het
Col14a1	T	C	15: 55,383,404 (GRCm39)	I1794T	probably damaging	Het
Cracdl	T	C	1: 37,652,493 (GRCm39)	T1105A	possibly damaging	Het
Fam193a	A	T	5: 34,616,374 (GRCm39)	T564S	possibly damaging	Het
Galnt1	G	A	18: 24,387,720 (GRCm39)	V154I	probably benign	Het
Gstcd	C	A	3: 132,704,675 (GRCm39)	E526D	probably benign	Het
Ighv1-42	A	C	12: 114,900,907 (GRCm39)	S59R	probably benign	Het
Morn3	A	G	5: 123,184,823 (GRCm39)	C6R	possibly damaging	Het
Nrdc	A	T	4: 108,901,782 (GRCm39)	K617M	probably damaging	Het
Or2aj4	A	G	16: 19,385,009 (GRCm39)	L208P	probably damaging	Het
Or8b36	T	A	9: 37,937,762 (GRCm39)	I220N	probably damaging	Het
Or8b49	T	C	9: 38,506,252 (GRCm39)	M245T	probably benign	Het
Pcdhb11	A	G	18: 37,556,056 (GRCm39)	N462S	probably damaging	Het
Pfpl	G	T	19: 12,406,825 (GRCm39)	D359Y	probably damaging	Het
Phyhip	T	C	14: 70,699,299 (GRCm39)	V34A	probably benign	Het
Pigu	A	T	2: 155,139,116 (GRCm39)	I313N	possibly damaging	Het
Plch1	C	T	3: 63,609,444 (GRCm39)	R912H	probably damaging	Het
Psg16	T	A	7: 16,829,091 (GRCm39)	F225Y	possibly damaging	Het
Setdb2	T	A	14: 59,660,898 (GRCm39)	K82*	probably null	Het
Sgms1	A	G	19: 32,101,825 (GRCm39)	S394P	possibly damaging	Het
Slc16a1	T	C	3: 104,560,310 (GRCm39)	L205P	probably benign	Het
Slc19a1	T	A	10: 76,880,603 (GRCm39)	I380N	probably damaging	Het
Snx32	A	G	19: 5,548,042 (GRCm39)	I131T	probably benign	Het
Sorbs3	T	C	14: 70,430,053 (GRCm39)		probably null	Het
Stc2	T	A	11: 31,310,392 (GRCm39)	I215L	probably benign	Het
Tln2	C	T	9: 67,230,302 (GRCm39)	A84T	probably damaging	Het
Tomm34	A	G	2: 163,902,911 (GRCm39)	M133T	probably benign	Het
Usp43	A	G	11: 67,770,733 (GRCm39)	S634P	probably benign	Het
Vmn2r59	T	A	7: 41,661,749 (GRCm39)	R689*	probably null	Het
Vmn2r9	C	T	5: 108,992,902 (GRCm39)	R536Q	probably benign	Het
Wdr24	C	T	17: 26,043,579 (GRCm39)	H134Y	probably benign	Het
Zfhx2	T	A	14: 55,305,767 (GRCm39)		probably null	Het
Zfp1004	A	G	2: 150,034,725 (GRCm39)	K349E	probably damaging	Het
Zfp608	G	T	18: 55,120,944 (GRCm39)	H214Q	possibly damaging	Het
Zfp619	T	C	7: 39,184,558 (GRCm39)	V196A	probably benign	Het

Other mutations in Or51ai2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01331:Or51ai2	APN	7	103,586,782 (GRCm39)	missense	possibly damaging	0.88
IGL01817:Or51ai2	APN	7	103,587,030 (GRCm39)	missense	probably benign	0.01
IGL02303:Or51ai2	APN	7	103,586,770 (GRCm39)	missense	possibly damaging	0.62
IGL03392:Or51ai2	APN	7	103,587,232 (GRCm39)	missense	probably benign	0.01
R0092:Or51ai2	UTSW	7	103,586,934 (GRCm39)	missense	probably damaging	1.00
R0492:Or51ai2	UTSW	7	103,586,971 (GRCm39)	missense	probably benign	0.05
R0711:Or51ai2	UTSW	7	103,587,024 (GRCm39)	missense	probably benign	0.29
R2893:Or51ai2	UTSW	7	103,587,389 (GRCm39)	missense	probably damaging	1.00
R3911:Or51ai2	UTSW	7	103,586,616 (GRCm39)	missense	possibly damaging	0.94
R4825:Or51ai2	UTSW	7	103,586,710 (GRCm39)	missense	probably benign	0.02
R6254:Or51ai2	UTSW	7	103,586,741 (GRCm39)	missense	probably benign	0.07
R6383:Or51ai2	UTSW	7	103,587,030 (GRCm39)	missense	probably benign	0.01
R6821:Or51ai2	UTSW	7	103,586,793 (GRCm39)	missense	probably benign	0.07
R6890:Or51ai2	UTSW	7	103,587,066 (GRCm39)	missense	possibly damaging	0.71
R7646:Or51ai2	UTSW	7	103,587,504 (GRCm39)	missense	probably damaging	0.98
R8041:Or51ai2	UTSW	7	103,586,788 (GRCm39)	missense	probably damaging	1.00
R8232:Or51ai2	UTSW	7	103,586,980 (GRCm39)	missense	possibly damaging	0.65
R8266:Or51ai2	UTSW	7	103,586,746 (GRCm39)	missense	probably damaging	0.96
R8326:Or51ai2	UTSW	7	103,586,809 (GRCm39)	missense	probably damaging	1.00
R8783:Or51ai2	UTSW	7	103,586,751 (GRCm39)	missense	possibly damaging	0.92
Z1177:Or51ai2	UTSW	7	103,586,965 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TAGCCATGGGTTCAGATGTCC -3'
(R):5'- CTCTGCTGAAAGGACTCTGAAAAG -3'

Sequencing Primer
(F):5'- ATGGGTTCAGATGTCCTCTTC -3'
(R):5'- CTGAAAAGAATCTTTGACTCATCCC -3'

Posted On

2017-08-16