Mutagenetix > Incidental Mutation

Incidental Mutation 'R9658:Olfr1312'

735521

Institutional Source

Beutler Lab

Gene Symbol

Olfr1312

Ensembl Gene

ENSMUSG00000074947

Gene Name

olfactory receptor 1312

Synonyms

GA_x6K02T2Q125-73090482-73089529, MOR245-20

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R9658 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112038068-112050238 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 112042478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 185 (A185S)

Ref Sequence

ENSEMBL: ENSMUSP00000150415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099600] [ENSMUST00000213582] [ENSMUST00000213961] [ENSMUST00000215531]

AlphaFold

Q8VF10

Predicted Effect

probably damaging
Transcript: ENSMUST00000099600
AA Change: A185S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097195
Gene: ENSMUSG00000074947
AA Change: A185S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	27	302	1.6e-43	PFAM
Pfam:7tm_1	38	284	1.3e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213582
AA Change: A185S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213961
AA Change: A185S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215531
AA Change: A185S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	C	T	18: 70,467,330		probably null	Het
Abca12	T	C	1: 71,286,475	I1521M	probably damaging	Het
Abcc3	A	G	11: 94,372,877	S268P	possibly damaging	Het
Adamts20	G	C	15: 94,351,745	P464A	probably damaging	Het
Apoa1	C	A	9: 46,229,982	D125E	probably benign	Het
Atp6v0a1	C	A	11: 101,018,588	Q48K	probably benign	Het
Bptf	T	C	11: 107,111,344	N314S	probably damaging	Het
Cdh7	T	C	1: 110,061,055	V229A	probably damaging	Het
Cfap46	G	A	7: 139,666,313	T378M		Het
Clca3b	T	A	3: 144,837,814	D418V	probably damaging	Het
Dennd4c	T	A	4: 86,836,388	L1545*	probably null	Het
Dnajc13	A	G	9: 104,238,529	V27A	probably benign	Het
Eif2ak2	A	T	17: 78,876,203	D72E	probably benign	Het
Eif2ak4	T	C	2: 118,439,030	I862T	probably damaging	Het
Eif4g1	T	C	16: 20,684,113	I1022T	probably benign	Het
Enpp3	A	T	10: 24,773,904	*875R	probably null	Het
F11	T	C	8: 45,245,634	Y491C	probably damaging	Het
Fam155a	T	C	8: 9,770,114	D302G	probably benign	Het
Fam98c	A	C	7: 29,152,781	W118G	probably damaging	Het
Fbxo43	A	T	15: 36,152,136	L509Q	probably damaging	Het
Fbxw5	A	G	2: 25,503,858	H366R	probably damaging	Het
Flt1	G	T	5: 147,588,567	N920K	probably damaging	Het
Git1	T	A	11: 77,499,755	F106I	probably damaging	Het
Glipr1l2	A	G	10: 112,106,963	E241G	probably damaging	Het
Gm11639	A	G	11: 104,720,294	K321E	probably benign	Het
Gm2381	A	C	7: 42,820,305	C132G	probably damaging	Het
Gm49383	A	G	12: 69,192,854	I237T		Het
Gm7324	T	A	14: 43,714,825	D308E	probably benign	Het
Gpr17	A	G	18: 31,947,368	L214P	probably damaging	Het
Gtf3c1	A	T	7: 125,707,562	L39Q	probably damaging	Het
H2-Q6	C	T	17: 35,425,209	R56C	probably damaging	Het
Hcar2	T	C	5: 123,864,469	T324A	possibly damaging	Het
Ksr2	T	C	5: 117,747,360	S750P	probably damaging	Het
Lipi	C	A	16: 75,560,801	R292L	probably benign	Het
Map4k3	C	A	17: 80,653,877	M133I	probably benign	Het
Marf1	A	T	16: 14,140,223	L805Q	probably damaging	Het
Mccc2	T	A	13: 99,954,246	R460W	probably damaging	Het
Mgam	A	G	6: 40,744,377	D312G	possibly damaging	Het
Nadk2	A	T	15: 9,103,361	K360*	probably null	Het
Nars2	A	G	7: 97,039,971	I367V	probably benign	Het
Nppb	T	C	4: 147,986,494	S109P	possibly damaging	Het
Odf2	G	A	2: 29,889,801	R15Q	probably benign	Het
Olfr209	A	T	16: 59,361,743	H158Q	probably damaging	Het
Olfr630	C	T	7: 103,754,821	V255M	probably damaging	Het
Osbpl1a	A	T	18: 12,756,212	I949N	probably benign	Het
Pan3	T	C	5: 147,543,071	F55L	probably benign	Het
Patj	A	G	4: 98,465,140	D640G	probably null	Het
Pdxk	T	C	10: 78,451,569	K53E	probably benign	Het
Pja2	A	G	17: 64,292,873	S539P	probably damaging	Het
Plscr1	T	A	9: 92,266,482	C158*	probably null	Het
Prdm14	T	C	1: 13,118,921	T400A	probably benign	Het
Rag1	C	T	2: 101,642,884	V638M	possibly damaging	Het
Ros1	A	G	10: 52,090,973	S1734P	probably damaging	Het
S100a9	T	C	3: 90,692,774	H105R	unknown	Het
Shisa9	A	T	16: 12,244,656	Q247L	possibly damaging	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc27a4	G	A	2: 29,811,289	R364Q	probably damaging	Het
Spag17	C	T	3: 100,027,616	P713S	possibly damaging	Het
Tbc1d4	T	A	14: 101,608,420	H14L	probably damaging	Het
Tmem144	T	A	3: 79,822,684	Y253F	probably damaging	Het
Tmem204	C	T	17: 25,080,348	G66R	possibly damaging	Het
Tnfrsf1b	A	T	4: 145,215,854	V453E	probably damaging	Het
Tns1	G	C	1: 73,942,023	Q1061E	probably benign	Het
Tns1	G	T	1: 73,942,024	N1060K	probably benign	Het
Trav5-1	A	G	14: 52,622,971	K78E	probably benign	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Usp17lc	G	A	7: 103,418,182	G228D	possibly damaging	Het
Uvssa	T	C	5: 33,410,989	C574R	probably damaging	Het
Veph1	G	A	3: 66,264,013	Q3*	probably null	Het
Vps13b	T	A	15: 35,623,628	D1230E	probably benign	Het
Xkr9	T	A	1: 13,701,094	I278N	probably damaging	Het
Zbed4	C	A	15: 88,780,539	A270E	probably benign	Het
Zfp366	A	T	13: 99,228,927	T199S	probably benign	Het

Other mutations in Olfr1312

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Olfr1312	APN	2	112042371	missense	probably benign	0.00
IGL01650:Olfr1312	APN	2	112042375	missense	possibly damaging	0.84
IGL02390:Olfr1312	APN	2	112042711	missense	possibly damaging	0.84
IGL03392:Olfr1312	APN	2	112042976	missense	probably benign	0.00
R1170:Olfr1312	UTSW	2	112042215	missense	probably benign	0.45
R1620:Olfr1312	UTSW	2	112042246	missense	probably benign	0.07
R2083:Olfr1312	UTSW	2	112042553	missense	probably benign	0.05
R3605:Olfr1312	UTSW	2	112042823	missense	probably benign
R4182:Olfr1312	UTSW	2	112042528	missense	probably damaging	1.00
R5739:Olfr1312	UTSW	2	112042783	missense	probably damaging	0.99
R6321:Olfr1312	UTSW	2	112042768	missense	probably benign	0.07
R7231:Olfr1312	UTSW	2	112042366	missense	probably damaging	1.00
R7365:Olfr1312	UTSW	2	112043014	missense	possibly damaging	0.95
R7673:Olfr1312	UTSW	2	112042580	missense	probably benign
R7978:Olfr1312	UTSW	2	112042178	missense	possibly damaging	0.92
R8112:Olfr1312	UTSW	2	112042637	missense	probably damaging	1.00
R8167:Olfr1312	UTSW	2	112042444	missense	possibly damaging	0.91
R8356:Olfr1312	UTSW	2	112042598	missense	probably damaging	0.99
R8799:Olfr1312	UTSW	2	112042183	missense	probably damaging	1.00
R9186:Olfr1312	UTSW	2	112042750	missense	probably damaging	1.00
Z1177:Olfr1312	UTSW	2	112042655	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAGTAACATGAGCTGAAAGTGTG -3'
(R):5'- TTTTGCTCATAGCCATGGCC -3'

Sequencing Primer
(F):5'- CTGAAAGTGTGGACAGAGCCTTG -3'
(R):5'- ATAGCCATGGCCTTTGACAG -3'

Posted On

2022-11-14