Mutagenetix > Incidental Mutation

Incidental Mutation 'R1733:Olfr1307'

199451

Institutional Source

Beutler Lab

Gene Symbol

Olfr1307

Ensembl Gene

ENSMUSG00000094747

Gene Name

olfactory receptor 1307

Synonyms

MOR245-19P, GA_x6K02T2Q125-72988111-72987173

MMRRC Submission

039765-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R1733 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111930116-111949440 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111945280 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 59 (M59L)

Ref Sequence

ENSEMBL: ENSMUSP00000097201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099604] [ENSMUST00000099606]

AlphaFold

Q7TQX1

Predicted Effect

probably benign
Transcript: ENSMUST00000099604
AA Change: M59L

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097199
Gene: ENSMUSG00000094747
AA Change: M59L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	38	311	1.5e-36	PFAM
Pfam:7tm_1	49	295	6.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099606
AA Change: M59L

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097201
Gene: ENSMUSG00000094747
AA Change: M59L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	2.2e-42	PFAM
Pfam:7tm_1	41	287	6.7e-23	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (95/100)

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
Adamts19	T	G	18: 59,031,929	C1034W	probably damaging	Het
Agbl2	G	T	2: 90,810,745	K737N	probably damaging	Het
Aqp9	T	A	9: 71,112,342	I279F	possibly damaging	Het
Aspm	T	A	1: 139,457,117	N166K	probably benign	Het
Atp13a3	A	T	16: 30,357,266	I186N	probably benign	Het
Btaf1	A	T	19: 36,994,962	I1366L	probably benign	Het
Camk4	A	C	18: 33,078,021	K60Q	possibly damaging	Het
Card11	G	T	5: 140,906,633	Q226K	possibly damaging	Het
Ccdc187	T	C	2: 26,293,658	D110G	possibly damaging	Het
Col5a2	C	T	1: 45,407,032	R462Q	possibly damaging	Het
Cp	A	T	3: 19,968,219		probably benign	Het
Cpz	A	T	5: 35,517,758	V38E	probably damaging	Het
Cxcr6	G	A	9: 123,810,116	V68I	probably damaging	Het
Cyp2a22	C	A	7: 26,934,762	E322D	possibly damaging	Het
D130052B06Rik	C	T	11: 33,623,784	T127I	probably benign	Het
Daam2	T	A	17: 49,490,203	M185L	possibly damaging	Het
Dnaja3	G	A	16: 4,684,165	R11K	probably null	Het
Dnttip2	T	A	3: 122,276,748	S537R	probably benign	Het
Dock9	G	T	14: 121,626,880	H572Q	probably benign	Het
Dpp4	T	A	2: 62,372,869		probably null	Het
Enc1	T	G	13: 97,245,042	I20S	possibly damaging	Het
Ephb6	T	A	6: 41,619,720	H900Q	probably benign	Het
Ercc3	T	C	18: 32,267,165	V690A	possibly damaging	Het
Fam90a1a	C	T	8: 21,963,369	Q247*	probably null	Het
Fkbp10	G	A	11: 100,423,931	R423H	probably benign	Het
Fus	A	G	7: 127,981,545	M265V	probably benign	Het
Gas2l3	T	A	10: 89,414,265	K330N	probably damaging	Het
Gpam	T	G	19: 55,081,469	L410F	probably damaging	Het
Gpr37l1	A	T	1: 135,161,535	V264E	possibly damaging	Het
Grk6	A	T	13: 55,453,166		probably benign	Het
Gsto1	G	T	19: 47,855,235	V19F	probably damaging	Het
H1fnt	G	T	15: 98,256,135	Q378K	unknown	Het
Hgfac	G	A	5: 35,043,674	C194Y	probably damaging	Het
Hivep1	A	G	13: 42,157,931	N1216D	probably damaging	Het
Hrg	C	T	16: 22,951,247	A42V	probably damaging	Het
Irx4	A	G	13: 73,266,705	D136G	probably benign	Het
Kcnn3	G	T	3: 89,652,090	V556L	probably benign	Het
Klk8	T	C	7: 43,802,121	Y179H	possibly damaging	Het
Klrb1f	T	A	6: 129,054,359	L173*	probably null	Het
Kremen2	A	T	17: 23,743,399		probably null	Het
Krt25	A	T	11: 99,316,552	Y400*	probably null	Het
Lingo4	A	T	3: 94,403,178	R474S	probably benign	Het
Lnpep	T	C	17: 17,553,313	K599E	probably benign	Het
Mapk8ip3	A	T	17: 24,936,850	M2K	possibly damaging	Het
Mat2b	A	T	11: 40,680,077	S307T	probably benign	Het
Mcph1	C	A	8: 18,631,963	A372D	probably benign	Het
Mfsd6	T	A	1: 52,709,365	I114F	probably damaging	Het
Mlkl	A	G	8: 111,322,748	S248P	probably damaging	Het
Mmrn1	A	T	6: 60,977,101	T789S	probably benign	Het
Mphosph8	A	G	14: 56,693,459	Y735C	probably damaging	Het
Mrc1	T	A	2: 14,257,099	Y300N	probably damaging	Het
Mrps11	A	G	7: 78,792,712	H180R	probably damaging	Het
Msh4	T	C	3: 153,867,767	D556G	probably damaging	Het
Myh10	C	A	11: 68,802,296	D1472E	probably benign	Het
Myo16	T	C	8: 10,442,283	S742P	probably damaging	Het
Nlrp5-ps	C	T	7: 14,583,053		noncoding transcript	Het
Nrp1	C	T	8: 128,468,493	P477S	probably benign	Het
Olfr1278	T	C	2: 111,292,865	V199A	probably damaging	Het
Olfr64	T	C	7: 103,892,911	S275G	probably benign	Het
Olfr936	G	T	9: 39,047,382	H57N	unknown	Het
Oplah	G	T	15: 76,302,483	C665*	probably null	Het
Otogl	T	C	10: 107,783,712	T1696A	possibly damaging	Het
Pdzrn4	A	G	15: 92,401,974	I242V	probably benign	Het
Phgdh	G	A	3: 98,328,135	T141I	probably benign	Het
Pigv	T	C	4: 133,664,926	Y311C	probably damaging	Het
Pik3c2a	T	G	7: 116,418,520	M1L	possibly damaging	Het
Pitpnm1	A	T	19: 4,109,960	K760*	probably null	Het
Pnrc1	G	A	4: 33,246,438	H174Y	probably damaging	Het
Ptgis	A	G	2: 167,191,968		probably benign	Het
Ptpn4	T	C	1: 119,716,043		probably null	Het
Rin3	T	A	12: 102,369,330	L420*	probably null	Het
Sacs	T	G	14: 61,205,454	F1650V	probably damaging	Het
Sbno2	T	A	10: 80,058,508	N1081Y	possibly damaging	Het
Sema5b	C	T	16: 35,646,367	P213L	probably damaging	Het
Sharpin	T	C	15: 76,347,936	K240R	probably benign	Het
Skint6	T	A	4: 113,177,037		probably benign	Het
Slc4a2	A	G	5: 24,429,567	E68G	probably damaging	Het
Srcin1	C	T	11: 97,533,501	V634I	probably benign	Het
Srsf10	T	A	4: 135,863,165	F134I	possibly damaging	Het
Stab1	C	A	14: 31,145,303	G1700V	probably damaging	Het
Sun1	T	G	5: 139,230,789	C290W	possibly damaging	Het
Svs6	T	A	2: 164,317,657		probably benign	Het
Tmem8b	G	A	4: 43,690,228		probably null	Het
Usp49	A	G	17: 47,672,313	D81G	probably damaging	Het
Vmn1r215	T	A	13: 23,076,678	V296D	probably benign	Het
Vmn1r6	T	A	6: 57,002,622	S90T	probably damaging	Het
Wbp2	A	G	11: 116,083,883	F42L	probably benign	Het
Wdr20rt	C	T	12: 65,227,281	T333I	possibly damaging	Het
Zfp341	C	T	2: 154,641,378	A552V	probably benign	Het
Zfp607b	A	T	7: 27,692,524	H8L	possibly damaging	Het
Zfp758	G	T	17: 22,375,849	D439Y	probably damaging	Het
Zfp946	T	C	17: 22,453,557	Y46H	probably damaging	Het
Zic2	G	A	14: 122,478,947	E432K	probably damaging	Het

Other mutations in Olfr1307

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01501:Olfr1307	APN	2	111944518	makesense	probably null
IGL01947:Olfr1307	APN	2	111944994	missense	probably benign	0.26
IGL02373:Olfr1307	APN	2	111944833	missense	probably benign	0.01
IGL02682:Olfr1307	APN	2	111944940	missense	probably damaging	1.00
R0714:Olfr1307	UTSW	2	111944553	missense	probably benign	0.01
R1670:Olfr1307	UTSW	2	111944919	missense	probably damaging	1.00
R1730:Olfr1307	UTSW	2	111945288	missense	probably benign	0.45
R1773:Olfr1307	UTSW	2	111944859	missense	possibly damaging	0.55
R1783:Olfr1307	UTSW	2	111945288	missense	probably benign	0.45
R2180:Olfr1307	UTSW	2	111945003	missense	probably benign	0.39
R2197:Olfr1307	UTSW	2	111945313	missense	possibly damaging	0.64
R2207:Olfr1307	UTSW	2	111944925	missense	probably damaging	1.00
R2377:Olfr1307	UTSW	2	111944643	missense	probably damaging	1.00
R4425:Olfr1307	UTSW	2	111945189	missense	probably benign	0.00
R4595:Olfr1307	UTSW	2	111944652	missense	possibly damaging	0.86
R4859:Olfr1307	UTSW	2	111944811	missense	probably damaging	0.98
R4910:Olfr1307	UTSW	2	111945078	missense	possibly damaging	0.69
R5167:Olfr1307	UTSW	2	111945102	missense	probably damaging	1.00
R5537:Olfr1307	UTSW	2	111945048	missense	probably damaging	1.00
R6328:Olfr1307	UTSW	2	111945394	missense	probably null	0.41
R6877:Olfr1307	UTSW	2	111944839	missense	probably benign	0.16
R7011:Olfr1307	UTSW	2	111944686	missense	probably benign	0.01
R7177:Olfr1307	UTSW	2	111945156	missense	probably damaging	1.00
R7937:Olfr1307	UTSW	2	111944530	missense	probably benign	0.00
R8792:Olfr1307	UTSW	2	111944728	missense	probably damaging	1.00
R9290:Olfr1307	UTSW	2	111944622	missense	possibly damaging	0.91
R9358:Olfr1307	UTSW	2	111945084	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TGTCCTCGGGCTCATAATGGTCAG -3'
(R):5'- AGAGTGAATCAGTCTGTGGTGTCAGAG -3'

Sequencing Primer
(F):5'- GGGCTCATAATGGTCAGGTAATG -3'
(R):5'- GTGTCAGAGTTTGTGTTCCTG -3'

Posted On

2014-05-23