Mutagenetix > Incidental Mutation

Incidental Mutation 'R4422:Or12e10'

327126

Institutional Source

Beutler Lab

Gene Symbol

Or12e10

Ensembl Gene

ENSMUSG00000068814

Gene Name

olfactory receptor family 12 subfamily E member 10

Synonyms

Olfr1145, GA_x6K02T2Q125-49311440-49312384, MOR264-19

MMRRC Submission

041695-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R4422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87640166-87641143 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87640989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 275 (T275K)

Ref Sequence

ENSEMBL: ENSMUSP00000088209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079711] [ENSMUST00000090707]

AlphaFold

A2AVC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000079711
AA Change: T264K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078649
Gene: ENSMUSG00000068814
AA Change: T264K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	3.4e-52	PFAM
Pfam:7tm_1	47	296	1.3e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000090707
AA Change: T275K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088209
Gene: ENSMUSG00000068814
AA Change: T275K

Domain	Start	End	E-Value	Type
transmembrane domain	21	38	N/A	INTRINSIC
Pfam:7tm_4	48	325	6.2e-58	PFAM
Pfam:7tm_1	58	307	1.5e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118227

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (67/70)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	C	2: 26,895,412 (GRCm39)	S1168P	probably benign	Het
Adgrf2	T	C	17: 43,024,046 (GRCm39)	M142V	probably benign	Het
Akna	G	T	4: 63,305,330 (GRCm39)	Q479K	possibly damaging	Het
Arhgef9	T	G	X: 94,144,670 (GRCm39)	I131L	possibly damaging	Het
AW551984	A	T	9: 39,511,373 (GRCm39)	C111S	probably null	Het
Bak1	C	A	17: 27,240,298 (GRCm39)	G130W	probably damaging	Het
Bank1	T	A	3: 135,788,972 (GRCm39)	Q441L	probably damaging	Het
C030034I22Rik	T	C	17: 69,725,153 (GRCm39)		noncoding transcript	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cct7	A	G	6: 85,444,127 (GRCm39)	R355G	probably damaging	Het
Cd19	C	T	7: 126,012,578 (GRCm39)	V272I	probably benign	Het
Cenpf	A	G	1: 189,390,547 (GRCm39)	L1095S	probably damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Chrm3	A	T	13: 9,928,591 (GRCm39)	Y148*	probably null	Het
Chrnb3	T	C	8: 27,886,761 (GRCm39)	V445A	possibly damaging	Het
Col4a4	T	A	1: 82,467,559 (GRCm39)	M852L	unknown	Het
Dhx29	T	C	13: 113,083,781 (GRCm39)	L612P	probably damaging	Het
Dlgap2	T	C	8: 14,793,463 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,972,799 (GRCm39)	T2045A	possibly damaging	Het
Dync1li1	A	G	9: 114,538,377 (GRCm39)	T245A	probably damaging	Het
Epha4	T	C	1: 77,488,354 (GRCm39)	E42G	probably damaging	Het
Fam120b	C	A	17: 15,622,445 (GRCm39)	T141K	probably damaging	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Gcnt2	T	G	13: 41,014,001 (GRCm39)	Y57*	probably null	Het
Gm5409	C	T	6: 41,396,519 (GRCm39)		noncoding transcript	Het
Hip1r	A	G	5: 124,135,069 (GRCm39)	K402E	possibly damaging	Het
Hlcs	G	A	16: 93,939,819 (GRCm39)	P506L	possibly damaging	Het
Itih4	T	A	14: 30,611,821 (GRCm39)	F142I	probably damaging	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lamb2	A	G	9: 108,360,754 (GRCm39)	D518G	probably damaging	Het
Ldlr	G	A	9: 21,649,248 (GRCm39)	C341Y	probably damaging	Het
Lsr	G	T	7: 30,665,422 (GRCm39)	N177K	probably benign	Het
Macf1	G	A	4: 123,359,839 (GRCm39)	S1815F	probably damaging	Het
Mms22l	T	C	4: 24,503,008 (GRCm39)	S95P	probably damaging	Het
Mon2	A	G	10: 122,878,887 (GRCm39)	L218P	probably damaging	Het
Nlrp4f	C	T	13: 65,332,776 (GRCm39)		probably null	Het
Nrde2	G	A	12: 100,112,286 (GRCm39)	Q137*	probably null	Het
Or51l14	G	T	7: 103,101,450 (GRCm39)	R302L	probably damaging	Het
Or6z7	G	T	7: 6,484,037 (GRCm39)	Y39*	probably null	Het
Phf24	G	A	4: 42,934,817 (GRCm39)	C151Y	probably damaging	Het
Pik3r1	T	G	13: 101,830,892 (GRCm39)	N3T	probably benign	Het
Plcb2	T	C	2: 118,542,484 (GRCm39)	K821E	probably benign	Het
Ppat	A	G	5: 77,063,061 (GRCm39)	W517R	probably damaging	Het
Prelid2	T	C	18: 42,045,461 (GRCm39)	T150A	probably benign	Het
Psg21	A	G	7: 18,381,257 (GRCm39)	S429P	probably damaging	Het
Reg4	T	C	3: 98,140,360 (GRCm39)	Y114H	possibly damaging	Het
Rsbn1l	G	T	5: 21,101,544 (GRCm39)	H665Q	probably damaging	Het
Rspo2	T	C	15: 43,033,150 (GRCm39)	N24S	probably benign	Het
Ryr2	G	T	13: 11,731,952 (GRCm39)	C2329*	probably null	Het
Skint2	T	A	4: 112,441,785 (GRCm39)		probably benign	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tmem53	T	C	4: 117,123,149 (GRCm39)	Y37H	probably damaging	Het
Tmem59l	G	A	8: 70,938,749 (GRCm39)	R111W	probably damaging	Het
Tnks2	G	A	19: 36,823,053 (GRCm39)	V107I	probably damaging	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Tubgcp4	T	A	2: 121,019,882 (GRCm39)	L404*	probably null	Het
Vmn2r86	T	C	10: 130,288,845 (GRCm39)	I219V	possibly damaging	Het
Vsig10	T	C	5: 117,462,986 (GRCm39)	S71P	probably benign	Het
Wnk1	T	C	6: 119,930,856 (GRCm39)	N896S	probably benign	Het
Zfp871	T	A	17: 32,993,808 (GRCm39)	S437C	probably benign	Het
Zfp871	C	A	17: 32,993,807 (GRCm39)	S456I	probably benign	Het
Zfp873	A	G	10: 81,896,708 (GRCm39)	T480A	probably benign	Het

Other mutations in Or12e10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Or12e10	APN	2	87,640,992 (GRCm39)	missense	probably damaging	1.00
IGL01335:Or12e10	APN	2	87,640,790 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Or12e10	UTSW	2	87,640,938 (GRCm39)	missense	probably damaging	0.99
R1512:Or12e10	UTSW	2	87,640,988 (GRCm39)	missense	probably benign	0.23
R1700:Or12e10	UTSW	2	87,641,112 (GRCm39)	missense	probably benign
R2127:Or12e10	UTSW	2	87,640,685 (GRCm39)	missense	probably benign	0.09
R2162:Or12e10	UTSW	2	87,640,704 (GRCm39)	missense	probably damaging	1.00
R3707:Or12e10	UTSW	2	87,640,520 (GRCm39)	missense	probably damaging	1.00
R4327:Or12e10	UTSW	2	87,640,496 (GRCm39)	missense	probably benign	0.00
R4854:Or12e10	UTSW	2	87,640,934 (GRCm39)	missense	probably damaging	1.00
R5234:Or12e10	UTSW	2	87,641,112 (GRCm39)	missense	probably benign
R5858:Or12e10	UTSW	2	87,640,985 (GRCm39)	missense	probably benign	0.22
R6229:Or12e10	UTSW	2	87,640,431 (GRCm39)	missense	probably damaging	1.00
R6991:Or12e10	UTSW	2	87,640,787 (GRCm39)	missense	possibly damaging	0.76
R7007:Or12e10	UTSW	2	87,640,230 (GRCm39)	missense	probably damaging	1.00
R7027:Or12e10	UTSW	2	87,641,060 (GRCm39)	missense	possibly damaging	0.90
R7260:Or12e10	UTSW	2	87,640,731 (GRCm39)	missense	probably damaging	0.98
R7624:Or12e10	UTSW	2	87,640,683 (GRCm39)	missense	probably damaging	1.00
R7794:Or12e10	UTSW	2	87,640,818 (GRCm39)	missense	probably damaging	0.97
R8029:Or12e10	UTSW	2	87,640,376 (GRCm39)	missense	probably benign	0.00
R8378:Or12e10	UTSW	2	87,640,394 (GRCm39)	missense	probably damaging	1.00
R8399:Or12e10	UTSW	2	87,640,568 (GRCm39)	missense	probably damaging	1.00
R8468:Or12e10	UTSW	2	87,641,082 (GRCm39)	missense	possibly damaging	0.95
R8514:Or12e10	UTSW	2	87,641,054 (GRCm39)	missense	probably damaging	0.97
R9045:Or12e10	UTSW	2	87,640,416 (GRCm39)	missense	probably damaging	1.00
R9446:Or12e10	UTSW	2	87,640,199 (GRCm39)	missense	probably benign	0.26
R9513:Or12e10	UTSW	2	87,640,187 (GRCm39)	missense	possibly damaging	0.91
R9548:Or12e10	UTSW	2	87,641,097 (GRCm39)	missense	probably damaging	1.00
R9749:Or12e10	UTSW	2	87,640,202 (GRCm39)	missense	probably benign	0.05
Z1088:Or12e10	UTSW	2	87,641,090 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCAGTGCATGAATTGTCTGTC -3'
(R):5'- GACCTTGCCTAATACTAAGAGGC -3'

Sequencing Primer
(F):5'- CAGTGCATGAATTGTCTGTCTATGTG -3'
(R):5'- CTTGCCTAATACTAAGAGGCATAAAC -3'

Posted On

2015-07-07