Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Olfr1245'

669328

Institutional Source

Beutler Lab

Gene Symbol

Olfr1245

Ensembl Gene

ENSMUSG00000111456

Gene Name

olfactory receptor 1245

Synonyms

GA_x6K02T2Q125-51020951-51020028, MOR231-12

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R8708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89573406-89578447 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89575279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 149 (G149V)

Ref Sequence

ENSEMBL: ENSMUSP00000150791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000214870] [ENSMUST00000217402]

AlphaFold

A0A1L1SQJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000099766
AA Change: G149V

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

SMART Domains

Protein: ENSMUSP00000097354
Gene: ENSMUSG00000100601
AA Change: G149V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	6e-49	PFAM
Pfam:7tm_1	39	285	2.8e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099773
AA Change: G149V

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

SMART Domains

Protein: ENSMUSP00000097361
Gene: ENSMUSG00000075083
AA Change: G149V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	3.2e-48	PFAM
Pfam:7tm_1	39	285	3e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214870
AA Change: G149V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217402
AA Change: G149V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (99/101)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,561,480	K230R	probably damaging	Het
Akp3	T	A	1: 87,126,369	Y236*	probably null	Het
Alg11	T	C	8: 22,065,113	F130S	probably damaging	Het
Ankfn1	A	T	11: 89,503,930	S276R	possibly damaging	Het
Ankhd1	T	A	18: 36,594,291	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,534,088	T68A	probably benign	Het
Arhgap23	A	G	11: 97,452,412	T507A	probably benign	Het
Arid1a	A	T	4: 133,681,834	D1787E	unknown	Het
Atad2b	T	A	12: 4,961,253	D504E	probably damaging	Het
Atg2b	T	A	12: 105,669,428		probably benign	Het
Bptf	C	A	11: 107,073,313	S1685I	probably damaging	Het
Bptf	T	A	11: 107,073,314	S1685C	probably damaging	Het
Cacna1c	A	T	6: 118,627,455	I1437N		Het
Capn1	T	C	19: 6,011,298	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,759,117	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,136,614	M9I	probably benign	Het
Celf1	T	A	2: 91,010,580		probably null	Het
Ckap5	T	A	2: 91,595,478	N1285K	probably benign	Het
Col24a1	C	T	3: 145,545,265	T1673I	probably damaging	Het
Dbp	A	G	7: 45,709,801	E300G	probably damaging	Het
Dchs2	C	A	3: 83,128,742	H265Q	probably benign	Het
Dicer1	A	T	12: 104,728,445	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,442,292	F86L	probably benign	Het
Dnhd1	T	G	7: 105,694,280	Y1610*	probably null	Het
Dock5	A	G	14: 67,767,371	V1529A	probably benign	Het
Egfr	G	T	11: 16,867,300		probably benign	Het
Exph5	T	A	9: 53,375,796	H1392Q	probably benign	Het
Fam78b	A	G	1: 167,078,763	K164E	possibly damaging	Het
Fignl2	C	A	15: 101,052,853	R516L	unknown	Het
Fndc7	C	T	3: 108,867,212	E577K	probably benign	Het
Fryl	T	C	5: 73,132,562	E107G	probably benign	Het
Gbp10	A	T	5: 105,220,965	M336K	probably damaging	Het
Gm11444	A	T	11: 85,846,897	C156S		Het
Gm6904	A	T	14: 59,244,813	C164S	probably damaging	Het
Gm996	C	A	2: 25,577,802	R699L	possibly damaging	Het
Golga3	C	A	5: 110,202,855	A752E	probably benign	Het
Gper1	G	T	5: 139,425,935	V12L	probably benign	Het
Hmbox1	G	T	14: 64,823,640	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,742,335	I77L	probably benign	Het
Ing4	A	T	6: 125,047,932	N214Y	probably damaging	Het
Ints8	A	G	4: 11,208,824		probably null	Het
Itpa	T	A	2: 130,675,719	V129E	probably damaging	Het
Itpripl1	T	A	2: 127,141,342	M287L	probably benign	Het
Klc3	T	C	7: 19,395,859	I362V	probably damaging	Het
Ky	T	A	9: 102,525,391		probably benign	Het
Lasp1	A	G	11: 97,806,883	N43S	possibly damaging	Het
Limk2	A	G	11: 3,350,763	M380T	probably benign	Het
Lrp2	T	A	2: 69,459,613	E3627D	probably damaging	Het
Lrrc25	T	C	8: 70,617,809	L80P	probably damaging	Het
Mcoln3	A	T	3: 146,140,521	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854	D2591A	probably damaging	Het
Med12l	A	G	3: 59,252,330	I1267V	probably benign	Het
Mei4	C	A	9: 81,927,542	S226*	probably null	Het
Mios	G	A	6: 8,234,255	V809M	probably benign	Het
Mmp17	G	A	5: 129,595,422	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,691,384	Q36*	probably null	Het
Myo3a	T	A	2: 22,291,796		probably benign	Het
Naca	A	T	10: 128,048,074	I2125F	probably damaging	Het
Ndst3	A	C	3: 123,528,915	S840A	probably benign	Het
Nlrp4c	T	C	7: 6,065,604	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,897,773		probably null	Het
Olfr1489	T	C	19: 13,634,037	S309P	probably benign	Het
Olfr366	T	A	2: 37,219,944	S152T	probably damaging	Het
Olfr774	T	A	10: 129,238,809	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,486,197	D107G	probably benign	Het
Pde2a	A	G	7: 101,510,381	D816G	probably damaging	Het
Phf10	T	A	17: 14,955,999	T131S	possibly damaging	Het
Phrf1	A	G	7: 141,232,533	D70G	unknown	Het
Piezo2	A	G	18: 63,093,015	L850S	probably damaging	Het
Plcg1	T	A	2: 160,754,553		probably benign	Het
Plekhh2	A	T	17: 84,574,993	I676L	probably benign	Het
Ppp1r9a	T	G	6: 5,115,196	V804G	probably damaging	Het
Ppt2	T	C	17: 34,625,639	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,816,866	H398R	unknown	Het
Rab26	A	T	17: 24,529,798	M208K	probably damaging	Het
Rab31	A	C	17: 65,667,864		probably benign	Het
Radil	A	G	5: 142,485,449	V1024A	probably damaging	Het
Rorb	A	G	19: 18,983,416	I65T	probably damaging	Het
Sall1	A	T	8: 89,032,855	V207E	probably damaging	Het
Sart3	A	T	5: 113,744,667	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,589,537	S277T	probably benign	Het
Sept5	A	G	16: 18,624,872	V100A	probably benign	Het
Sipa1	C	T	19: 5,660,952	R10Q	probably damaging	Het
Ski	A	T	4: 155,160,662	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,596,651	D566E	probably benign	Het
Srgap2	G	A	1: 131,345,806	Q372*	probably null	Het
Stard9	A	G	2: 120,703,578	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769		probably benign	Het
Tmco3	A	G	8: 13,295,998	M279V	probably benign	Het
Tmem39b	T	C	4: 129,676,398		probably benign	Het
Trio	T	A	15: 27,732,546	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,393,090	R215Q	probably benign	Het
Ubr1	T	C	2: 120,866,483	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,947,040	F270C	probably damaging	Het
Vmn2r108	T	A	17: 20,462,425	N839I	probably damaging	Het
Vmn2r75	A	T	7: 86,163,268	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,967,532	V3016L		Het
Wdr11	A	G	7: 129,599,056	N77S	probably benign	Het
Wdr17	C	A	8: 54,640,092		probably benign	Het
Wrn	T	A	8: 33,292,643	N753I	probably damaging	Het
Zan	A	G	5: 137,463,277		probably null	Het
Zfat	T	A	15: 68,084,429	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,075,052	S62A	probably benign	Het

Other mutations in Olfr1245

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Olfr1245	APN	2	89575423	missense	possibly damaging	0.68
IGL01690:Olfr1245	APN	2	89575213	missense	probably benign	0.09
IGL02334:Olfr1245	APN	2	89575324	missense	possibly damaging	0.95
IGL02435:Olfr1245	APN	2	89575546	missense	probably damaging	0.99
IGL02793:Olfr1245	APN	2	89575552	missense	probably damaging	1.00
IGL02875:Olfr1245	APN	2	89575552	missense	probably damaging	1.00
IGL03218:Olfr1245	APN	2	89575591	missense	probably benign	0.09
IGL03392:Olfr1245	APN	2	89575249	missense	probably damaging	0.96
H8786:Olfr1245	UTSW	2	89575279	missense	probably damaging	1.00
I0000:Olfr1245	UTSW	2	89575153	missense	probably damaging	1.00
R0044:Olfr1245	UTSW	2	89575630	missense	possibly damaging	0.68
R0190:Olfr1245	UTSW	2	89574958	missense	probably damaging	0.98
R1585:Olfr1245	UTSW	2	89575402	missense	possibly damaging	0.89
R1902:Olfr1245	UTSW	2	89575603	missense	possibly damaging	0.77
R2018:Olfr1245	UTSW	2	89575393	missense	probably damaging	0.97
R2019:Olfr1245	UTSW	2	89575393	missense	probably damaging	0.97
R2020:Olfr1245	UTSW	2	89574961	missense	possibly damaging	0.88
R2021:Olfr1245	UTSW	2	89574961	missense	possibly damaging	0.88
R2030:Olfr1245	UTSW	2	89575214	missense	probably benign	0.00
R2133:Olfr1245	UTSW	2	89575256	nonsense	probably null
R3850:Olfr1245	UTSW	2	89575034	missense	probably damaging	0.99
R4066:Olfr1245	UTSW	2	89575179	missense	probably damaging	1.00
R4754:Olfr1245	UTSW	2	89575047	missense	probably benign
R4923:Olfr1245	UTSW	2	89575679	missense	probably damaging	0.98
R5303:Olfr1245	UTSW	2	89575001	missense	possibly damaging	0.88
R5574:Olfr1245	UTSW	2	89574977	missense	possibly damaging	0.94
R6083:Olfr1245	UTSW	2	89575672	missense	probably benign	0.42
R6188:Olfr1245	UTSW	2	89575194	nonsense	probably null
R6724:Olfr1245	UTSW	2	89574965	missense	probably benign	0.26
R6964:Olfr1245	UTSW	2	89574989	missense	probably benign
R7066:Olfr1245	UTSW	2	89575703	missense	probably damaging	0.98
R7401:Olfr1245	UTSW	2	89575105	missense	probably benign	0.27
R8232:Olfr1245	UTSW	2	89575594	missense	noncoding transcript
R8558:Olfr1245	UTSW	2	89574985	missense	probably damaging	1.00
R9482:Olfr1245	UTSW	2	89575609	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAGATCACAATACACATGGCTCC -3'
(R):5'- CTGCCATCTCACCCAAGTTG -3'

Sequencing Primer
(F):5'- TCCACCATTAGCAATAACAGTGAGG -3'
(R):5'- ATCTCACCCAAGTTGATTGTGG -3'

Posted On

2021-04-30