Mutagenetix > Incidental Mutations

Incidental Mutation 'R5987:Olfr1472'

481778

Institutional Source

Beutler Lab

Gene Symbol

Olfr1472

Ensembl Gene

ENSMUSG00000095189

Gene Name

olfactory receptor 1472

Synonyms

GA_x6K02T2RE5P-3787124-3786180, MOR202-16

MMRRC Submission

044167-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R5987 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13453280-13456086 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13453960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 186 (S186T)

Ref Sequence

ENSEMBL: ENSMUSP00000093915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077501] [ENSMUST00000096201]

AlphaFold

Q7TQQ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077501
AA Change: S186T

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000076707
Gene: ENSMUSG00000095189
AA Change: S186T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.4e-51	PFAM
Pfam:7TM_GPCR_Srsx	33	303	5.2e-8	PFAM
Pfam:7tm_1	39	288	6.9e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096201
AA Change: S186T

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093915
Gene: ENSMUSG00000095189
AA Change: S186T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	3.9e-53	PFAM
Pfam:7TM_GPCR_Srsx	34	304	2.6e-6	PFAM
Pfam:7tm_1	40	289	1.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213561

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.2%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,258,098	L2411R	probably damaging	Het
Als2	A	G	1: 59,206,587	W577R	probably damaging	Het
Aox2	C	A	1: 58,307,359	R551S	probably benign	Het
Areg	A	T	5: 91,146,718	H245L	possibly damaging	Het
Arhgap35	T	C	7: 16,563,467	T558A	possibly damaging	Het
Arhgef28	A	T	13: 97,936,860	C1322*	probably null	Het
Arhgef38	T	C	3: 133,206,958	R107G	possibly damaging	Het
Atf7ip	T	A	6: 136,571,502	F695L	probably damaging	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Bche	T	G	3: 73,648,678	Q549P	possibly damaging	Het
Blnk	A	G	19: 40,929,289	F417L	possibly damaging	Het
Bloc1s1	T	G	10: 128,923,386	K17T	probably damaging	Het
C330018D20Rik	G	T	18: 56,957,896	T65K	probably damaging	Het
Cers1	T	A	8: 70,321,578	S162T	possibly damaging	Het
Cgn	T	C	3: 94,779,522	K157E	probably benign	Het
Cldn7	G	A	11: 69,967,668	R196Q	probably benign	Het
Clrn2	C	A	5: 45,454,027	Q73K	probably benign	Het
Cmss1	A	G	16: 57,302,245	V262A	probably benign	Het
Cpb2	T	A	14: 75,260,688	V97E	probably damaging	Het
Ctnnd2	G	A	15: 30,683,241	V463I	probably benign	Het
Cyp7a1	A	T	4: 6,268,476	S416R	probably benign	Het
Dip2b	C	T	15: 100,190,079	R965C	probably damaging	Het
Dkk3	T	C	7: 112,150,658	T102A	probably benign	Het
Dmap1	C	A	4: 117,680,842		probably null	Het
Dnah12	C	A	14: 26,886,871	D3872E	possibly damaging	Het
Dnah7b	A	G	1: 46,119,398		probably null	Het
Dnaic1	C	T	4: 41,632,391	T575I	probably benign	Het
Dsg1a	T	A	18: 20,331,542	Y365N	probably damaging	Het
Dusp11	T	A	6: 85,959,233	K18*	probably null	Het
E2f2	A	T	4: 136,172,934	T52S	probably benign	Het
Elavl4	A	G	4: 110,290,644	L13S	probably benign	Het
Epor	T	C	9: 21,962,276	D59G	possibly damaging	Het
Eral1	A	G	11: 78,080,233	C43R	possibly damaging	Het
Fam135b	A	G	15: 71,490,848	V228A	probably benign	Het
Gba	T	C	3: 89,205,822	S187P	probably damaging	Het
Gcc2	G	T	10: 58,255,847		probably benign	Het
Gdap2	C	A	3: 100,202,256		probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm10801	C	CGTG	2: 98,663,807		probably null	Het
Gm8251	A	T	1: 44,057,257	N1560K	probably benign	Het
Gpr160	T	C	3: 30,896,463	L228P	probably benign	Het
Gsdmc2	A	C	15: 63,830,866	V184G	probably benign	Het
Gtf2e2	A	T	8: 33,776,052	K252M	probably damaging	Het
Gtf2e2	G	T	8: 33,776,053	K252N	probably benign	Het
Gys1	T	C	7: 45,438,105	Y102H	probably benign	Het
Hist1h4b	A	G	13: 23,757,226	D69G	probably damaging	Het
Ifit3b	A	C	19: 34,612,198	D258A	probably damaging	Het
Itpr3	T	A	17: 27,104,601	M1200K	probably damaging	Het
Kcng4	A	T	8: 119,626,359	F271I	probably damaging	Het
Klhdc2	C	T	12: 69,303,613	S144L	possibly damaging	Het
Lhcgr	A	G	17: 88,755,578	F222S	probably damaging	Het
Lrp5	C	G	19: 3,628,299	G519R	probably damaging	Het
Magel2	T	C	7: 62,378,767	V473A	probably benign	Het
Map1a	T	C	2: 121,304,295	V1864A	possibly damaging	Het
Mast4	T	A	13: 102,758,734	Q760H	probably damaging	Het
Mertk	A	G	2: 128,771,374	N437D	probably benign	Het
Mettl18	G	A	1: 163,996,775	V222I	probably benign	Het
Mical2	C	T	7: 112,334,948	T782M	probably benign	Het
Mocos	T	A	18: 24,686,693	V664E	probably damaging	Het
Neb	G	T	2: 52,295,294	N975K	probably benign	Het
Nectin3	A	T	16: 46,464,145	S59T	probably benign	Het
Nelfb	A	T	2: 25,203,888	M11K	probably damaging	Het
Nrp1	A	G	8: 128,476,169	N545S	probably damaging	Het
Olfr123	T	A	17: 37,796,357	N304K	probably benign	Het
Olfr1333	T	C	4: 118,830,281	D53G	probably damaging	Het
Olfr492	T	A	7: 108,323,047	T210S	probably benign	Het
Olfr66	T	A	7: 103,881,700	D181V	probably damaging	Het
Olfr814	A	T	10: 129,874,521	F79I	probably damaging	Het
Olfr968	T	C	9: 39,772,540	T87A	probably benign	Het
P3h1	A	G	4: 119,246,665	H587R	probably damaging	Het
Paqr4	A	G	17: 23,739,858		probably null	Het
Pde12	A	G	14: 26,669,098	V152A	probably benign	Het
Ppip5k1	C	A	2: 121,350,491	E45*	probably null	Het
Ptch2	C	T	4: 117,110,057	A677V	probably benign	Het
Rgs12	A	G	5: 35,020,345	N93S	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rnf32	T	C	5: 29,203,147	S125P	probably damaging	Het
Robo4	A	G	9: 37,411,400	I850V	probably damaging	Het
Scap	T	A	9: 110,381,151	I876N	probably damaging	Het
Sin3a	A	G	9: 57,127,200	D1219G	possibly damaging	Het
Skint5	T	C	4: 113,885,808	E354G	unknown	Het
Spg20	A	G	3: 55,126,541	D396G	probably benign	Het
Spindoc	G	A	19: 7,373,659	S311L	probably benign	Het
Spta1	G	T	1: 174,223,328	R1791L	probably damaging	Het
Tbck	T	C	3: 132,801,517	I750T	possibly damaging	Het
Tcrg-V1	A	T	13: 19,340,304	Y66F	probably benign	Het
Tmem191c	T	C	16: 17,276,470		probably null	Het
Vmn2r125	A	G	4: 156,349,997	Y26C	probably damaging	Het
Zbtb17	T	C	4: 141,464,817	C358R	possibly damaging	Het
Zfp180	G	A	7: 24,105,434	G426E	probably damaging	Het
Zfp445	A	G	9: 122,853,886	V330A	probably benign	Het
Zfp595	A	G	13: 67,317,624	C192R	probably damaging	Het
Zkscan4	A	G	13: 21,484,453	H387R	probably damaging	Het

Other mutations in Olfr1472

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Olfr1472	APN	19	13453840	missense	possibly damaging	0.46
IGL01755:Olfr1472	APN	19	13453815	missense	probably damaging	1.00
IGL01885:Olfr1472	APN	19	13454085	missense	probably benign	0.00
IGL02366:Olfr1472	APN	19	13454127	missense	probably damaging	1.00
IGL03074:Olfr1472	APN	19	13454053	missense	probably damaging	0.98
R0592:Olfr1472	UTSW	19	13453705	missense	probably benign	0.00
R1085:Olfr1472	UTSW	19	13454230	missense	possibly damaging	0.75
R4207:Olfr1472	UTSW	19	13454471	missense	probably benign	0.15
R4856:Olfr1472	UTSW	19	13454521	splice site	probably null
R4886:Olfr1472	UTSW	19	13454521	splice site	probably null
R5061:Olfr1472	UTSW	19	13453985	nonsense	probably null
R5167:Olfr1472	UTSW	19	13454377	missense	probably damaging	1.00
R5509:Olfr1472	UTSW	19	13453968	missense	probably damaging	1.00
R5586:Olfr1472	UTSW	19	13454382	missense	probably benign	0.02
R6631:Olfr1472	UTSW	19	13453821	missense	probably benign	0.00
R7976:Olfr1472	UTSW	19	13454199	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGGGCTGTAAATACATGAACAAAG -3'
(R):5'- ATGGCCTATGACCGTCATGC -3'

Sequencing Primer
(F):5'- TACAGTGATGAGATGAGATGCAC -3'
(R):5'- TATGACCGTCATGCAGCAGTG -3'

Posted On

2017-06-26