Mutagenetix > Incidental Mutations

Incidental Mutation 'R0044:Olfr1245'

32856

Institutional Source

Beutler Lab

Gene Symbol

Olfr1245

Ensembl Gene

ENSMUSG00000111456

Gene Name

olfactory receptor 1245

Synonyms

GA_x6K02T2Q125-51020951-51020028, MOR231-12

MMRRC Submission

038338-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R0044 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

89573406-89578447 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89575630 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 32 (I32T)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099766
AA Change: I32T

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097354
Gene: ENSMUSG00000100601
AA Change: I32T

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

possibly damaging
Transcript: ENSMUST00000099773
AA Change: I32T

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097361
Gene: ENSMUSG00000075083
AA Change: I32T

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

possibly damaging
Transcript: ENSMUST00000214870
AA Change: I32T

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217402
AA Change: I32T

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

100% (77/77)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430571L13Rik	A	C	9: 107,342,499	R50S	probably damaging	Het
Actn2	G	T	13: 12,275,127	T176N	possibly damaging	Het
Adamts7	T	C	9: 90,171,588	V62A	possibly damaging	Het
Adcy2	A	G	13: 68,727,899	S495P	possibly damaging	Het
Agbl3	A	T	6: 34,799,899	M447L	probably damaging	Het
Asxl1	C	T	2: 153,400,209	T893I	probably benign	Het
Atp11b	T	A	3: 35,812,252	I400N	probably damaging	Het
Bpifb2	C	T	2: 153,882,679		probably benign	Het
Capn1	T	A	19: 6,014,343	Y42F	probably benign	Het
Cdk5rap2	A	T	4: 70,360,901	L190H	probably damaging	Het
Cfap54	T	C	10: 93,035,433	I594V	probably null	Het
Cpsf1	A	G	15: 76,599,553	V830A	probably benign	Het
Cyp2c70	T	A	19: 40,165,371	N258I	possibly damaging	Het
Dctn1	T	G	6: 83,191,134	Y386D	probably damaging	Het
Degs2	T	C	12: 108,692,154	N189D	probably damaging	Het
Dido1	C	T	2: 180,661,819	A1431T	probably damaging	Het
Diras1	G	T	10: 81,022,138	S93*	probably null	Het
E130308A19Rik	T	A	4: 59,690,290	H41Q	possibly damaging	Het
Ebf2	C	T	14: 67,310,968		probably benign	Het
Fcho2	A	G	13: 98,755,544		probably benign	Het
Gbe1	T	A	16: 70,561,132	Y681*	probably null	Het
Gm10036	A	C	18: 15,832,816	K8T	probably benign	Het
Herc1	T	A	9: 66,448,175	M2236K	probably benign	Het
Hmcn2	A	T	2: 31,412,508	Y2948F	probably damaging	Het
Jakmip2	A	T	18: 43,582,105	C119S	probably benign	Het
Kif1b	A	G	4: 149,263,601		probably benign	Het
Kif6	T	C	17: 49,832,256		probably benign	Het
Lpin1	A	T	12: 16,568,529		probably benign	Het
Lrp2	T	C	2: 69,527,555	I377V	probably benign	Het
Mavs	C	A	2: 131,242,024	T147N	probably damaging	Het
Mcoln2	C	T	3: 146,183,561	T374M	probably damaging	Het
Mreg	T	G	1: 72,162,375	T153P	probably damaging	Het
Naglu	T	C	11: 101,071,217	I172T	probably damaging	Het
Ogdhl	T	C	14: 32,339,328	V492A	possibly damaging	Het
Parvg	A	G	15: 84,337,882	E323G	probably benign	Het
Pgap1	A	G	1: 54,493,368	L664S	probably damaging	Het
Pgm2l1	A	G	7: 100,250,332	N51S	probably benign	Het
Pik3r6	A	G	11: 68,544,750	T609A	probably benign	Het
Plcb4	T	A	2: 135,971,856	V705E	probably damaging	Het
Plppr5	T	A	3: 117,671,889		probably null	Het
Prkg2	C	A	5: 98,973,130	D411Y	probably damaging	Het
Ptprd	A	G	4: 76,086,329	V63A	probably benign	Het
Ptprz1	T	A	6: 23,007,403	I1655N	probably damaging	Het
Raf1	T	A	6: 115,623,515	D10V	probably benign	Het
Rexo1	T	A	10: 80,544,378	Q928L	probably benign	Het
Rpl7l1	A	C	17: 46,778,530		probably null	Het
Rrm2b	A	G	15: 37,953,688	S39P	possibly damaging	Het
Scn5a	A	G	9: 119,492,047		probably null	Het
Sgtb	A	G	13: 104,129,260	T93A	probably benign	Het
Sigirr	G	T	7: 141,092,313		probably null	Het
Slc16a7	T	C	10: 125,228,082	D462G	probably benign	Het
Slc25a30	C	T	14: 75,769,649	A85T	probably benign	Het
Spata24	A	G	18: 35,656,834	S167P	probably damaging	Het
Spock3	C	T	8: 63,144,007	T115I	possibly damaging	Het
Srgap2	A	G	1: 131,319,551	I581T	possibly damaging	Het
Syn2	A	T	6: 115,135,147	M23L	unknown	Het
Synrg	G	A	11: 84,009,181	V839I	probably damaging	Het
Tmtc1	A	G	6: 148,412,829		probably benign	Het
Tnfaip3	C	A	10: 19,011,626	M50I	probably damaging	Het
Topbp1	T	A	9: 103,325,773	I721N	possibly damaging	Het
Ttc22	T	G	4: 106,636,806	V321G	probably benign	Het
Ttc25	A	T	11: 100,567,001	I477F	probably damaging	Het
Ubr2	A	G	17: 46,992,985		probably benign	Het
Ubr4	T	C	4: 139,437,058		probably benign	Het
Usp24	T	C	4: 106,412,084		probably benign	Het
Vmn2r100	A	T	17: 19,522,179	I272L	possibly damaging	Het
Vrtn	T	A	12: 84,648,605	L43H	probably damaging	Het
Wnk1	G	T	6: 120,037,149	R162S	probably damaging	Het
Xkr9	G	A	1: 13,684,062	W93*	probably null	Het
Zfp804b	G	T	5: 6,769,655	P1136H	probably damaging	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
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
R8708:Olfr1245	UTSW	2	89575279	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTCATGCAAGCTGTAAAAGAGATG -3'
(R):5'- TGCTGACAACTGTGACTGTACAATGTG -3'

Sequencing Primer
(F):5'- TGTAAAAGAGATGGTTTTTTGATCAC -3'
(R):5'- TCTTGGTGAACCAAAAACGTG -3'

Posted On

2013-05-09