Mutagenetix > Incidental Mutation

Incidental Mutation 'R7231:Olfr1312'

562445

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 #

R7231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112038068-112050238 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112042366 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 222 (V222D)

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: V222D

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

SMART Domains

Protein: ENSMUSP00000097195
Gene: ENSMUSG00000074947
AA Change: V222D

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: V222D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213961
AA Change: V222D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215531
AA Change: V222D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (78/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,294,175	T2013S	probably benign	Het
Ablim3	A	G	18: 61,805,064		probably null	Het
Acvrl1	T	A	15: 101,136,223	C206*	probably null	Het
Adamts15	C	A	9: 30,906,158	R541S	probably damaging	Het
Add3	A	G	19: 53,233,146	I230V	probably benign	Het
Ankrd27	A	G	7: 35,628,446	D742G	possibly damaging	Het
Asxl3	A	T	18: 22,411,499		probably null	Het
Asxl3	A	G	18: 22,517,540	E862G	probably damaging	Het
Atp2b2	G	A	6: 113,765,732	T798M	possibly damaging	Het
Car12	T	C	9: 66,752,317	I208T	probably damaging	Het
Cgn	T	A	3: 94,773,192	Q600L	probably damaging	Het
Cgnl1	C	T	9: 71,632,645	A1106T	probably benign	Het
Cmtr2	T	C	8: 110,222,546	V496A	probably benign	Het
Cplx4	C	A	18: 65,957,052	D99Y	probably damaging	Het
Cyfip2	T	C	11: 46,224,136	T915A	probably benign	Het
Cyp4a32	T	C	4: 115,609,697	L193P	probably damaging	Het
Dennd5b	C	T	6: 149,044,604	R503Q	probably damaging	Het
Depdc5	C	A	5: 32,901,865	Q303K	possibly damaging	Het
Dlx1	T	A	2: 71,532,496	M249K	possibly damaging	Het
Dnah10	A	T	5: 124,813,828	E3218V	probably benign	Het
Dnah9	T	C	11: 65,965,647	D2896G	probably damaging	Het
Dtx4	C	A	19: 12,469,658	G557*	probably null	Het
Eps8l2	A	G	7: 141,360,392	N512D	probably damaging	Het
Fam20a	T	C	11: 109,721,375	D114G	possibly damaging	Het
Fbln1	T	C	15: 85,206,152	S7P	unknown	Het
Fli1	T	C	9: 32,424,188	E316G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Haus8	G	A	8: 71,253,137	T302I	probably benign	Het
Hmcn1	T	C	1: 150,638,876	I3582V	probably benign	Het
Hnrnpul1	G	A	7: 25,748,417	Q161*	probably null	Het
Hsf4	C	T	8: 105,272,147	A223V	probably damaging	Het
Ighg2c	A	G	12: 113,288,016	W164R		Het
Isl1	A	G	13: 116,303,290	V174A	probably benign	Het
Itih4	A	T	14: 30,896,614	I661F	probably benign	Het
Klhl14	A	T	18: 21,652,136	L78Q	probably damaging	Het
L3mbtl3	T	A	10: 26,339,282	I177F	unknown	Het
Lingo3	T	A	10: 80,835,104	T331S	possibly damaging	Het
Lrrc36	T	C	8: 105,461,057	V535A	possibly damaging	Het
Mapk8ip2	T	G	15: 89,458,076	S497A	probably benign	Het
Mbip	A	G	12: 56,337,762		probably null	Het
Nelfa	C	T	5: 33,898,825	G498D	probably damaging	Het
Nlrc5	T	A	8: 94,521,805		probably null	Het
Olfr679	T	C	7: 105,085,787	S24P	possibly damaging	Het
Olfr701	A	T	7: 106,818,443	Y120F	probably damaging	Het
Olfr863-ps1	T	A	9: 19,941,559	T294S	unknown	Het
Pde2a	A	G	7: 101,505,953	Y567C	probably damaging	Het
Pdia4	A	T	6: 47,800,957	F367Y	probably benign	Het
Pkdrej	C	A	15: 85,816,188	C1849F	possibly damaging	Het
Plekhj1	T	G	10: 80,797,658	T52P	probably damaging	Het
Ppp2r5d	A	T	17: 46,684,060	Y572N	probably benign	Het
Prkcq	T	A	2: 11,290,451	Y570*	probably null	Het
Ptpn3	T	A	4: 57,245,062	D226V	probably damaging	Het
Rab1b	A	G	19: 5,105,201	S22P	probably damaging	Het
Ralgapa1	A	G	12: 55,604,191	S2060P	probably damaging	Het
Rnf148	G	T	6: 23,654,891	S35R	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Samd15	T	A	12: 87,201,044	S168T	possibly damaging	Het
Slc26a4	T	A	12: 31,547,946	N167I	probably damaging	Het
Slc39a1	C	A	3: 90,251,790	H141Q	probably benign	Het
Slc9a3r2	C	T	17: 24,650,104	R16H	probably damaging	Het
Snx21	T	C	2: 164,786,201	S46P	probably benign	Het
Strip2	A	G	6: 29,944,487	S657G	probably damaging	Het
Stxbp3	G	A	3: 108,800,809	P392L	probably damaging	Het
Suclg1	G	A	6: 73,263,971	R161H	probably benign	Het
Tas1r3	T	C	4: 155,862,826	Y134C	probably damaging	Het
Tgif1	T	A	17: 70,846,173	Q114L	probably damaging	Het
Tll2	A	G	19: 41,086,234	F964L	probably benign	Het
Tmem181a	T	C	17: 6,297,920	S247P	possibly damaging	Het
Trav23	A	T	14: 53,977,568	R79S	probably damaging	Het
Trf	C	A	9: 103,225,148	C177F	probably damaging	Het
Triml1	T	C	8: 43,136,371	Y260C	probably benign	Het
Tulp4	T	C	17: 6,236,235	F1513L	probably benign	Het
Umodl1	G	A	17: 30,986,116	V562I	probably damaging	Het
Ush2a	A	G	1: 188,759,763	K3083R	possibly damaging	Het
Vmn1r74	A	T	7: 11,846,961	I63F	probably benign	Het
Vmn2r38	C	T	7: 9,097,638	C43Y	possibly damaging	Het
Vmn2r50	A	T	7: 10,053,083	N32K	probably benign	Het
Vps13d	A	G	4: 145,057,462	V3914A		Het
Vwa5b2	A	G	16: 20,604,128	T984A	probably benign	Het
Zc3h3	C	T	15: 75,840,382	V77M	probably damaging	Het
Zfp397	A	T	18: 23,960,358	H300L	probably damaging	Het
Zfp950	G	A	19: 61,119,212	R478C	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
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
R9658:Olfr1312	UTSW	2	112042478	missense	probably damaging	1.00
Z1177:Olfr1312	UTSW	2	112042655	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAAGGGTGTGACAATTGCATC -3'
(R):5'- GCATCTTGTTTTCAGTGGCC -3'

Sequencing Primer
(F):5'- GTGACAATTGCATCAAATATGGCCAG -3'
(R):5'- GGTTCAACTGGCTTTCGTAGTAAAC -3'

Posted On

2019-06-26