Mutagenetix > Incidental Mutation

Incidental Mutation 'R7007:Or12e10'

544756

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

045109-MU

Accession Numbers

Essential gene?

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

Stock #

R7007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87640166-87641143 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87640230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 22 (N22S)

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: N11S

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

SMART Domains

Protein: ENSMUSP00000078649
Gene: ENSMUSG00000068814
AA Change: N11S

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: N22S

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

SMART Domains

Protein: ENSMUSP00000088209
Gene: ENSMUSG00000068814
AA Change: N22S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (63/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,121 (GRCm39)	T57I	probably benign	Het
Adcy8	T	C	15: 64,576,565 (GRCm39)	N999S	possibly damaging	Het
Adgrv1	T	A	13: 81,684,483 (GRCm39)	I1073F	possibly damaging	Het
Akap3	A	G	6: 126,843,439 (GRCm39)	D686G	probably damaging	Het
Alg2	A	T	4: 47,471,881 (GRCm39)	I309N	probably benign	Het
Ankrd36	A	G	11: 5,639,168 (GRCm39)	E1360G	probably benign	Het
Aox1	C	A	1: 58,370,051 (GRCm39)	Q788K	probably damaging	Het
Apoc2	A	T	7: 19,407,282 (GRCm39)	D26E	possibly damaging	Het
Bbx	G	A	16: 50,022,851 (GRCm39)	T703I	possibly damaging	Het
C2cd4d	T	C	3: 94,271,378 (GRCm39)	Y215H	probably benign	Het
C3	C	T	17: 57,525,809 (GRCm39)	E858K	probably benign	Het
Ciita	T	C	16: 10,329,171 (GRCm39)	L482P	probably damaging	Het
Cldn9	T	C	17: 23,902,052 (GRCm39)	E191G	probably benign	Het
Cnst	T	A	1: 179,438,133 (GRCm39)	S566T	probably damaging	Het
Col5a2	A	G	1: 45,417,609 (GRCm39)	I1322T	possibly damaging	Het
Cp	G	A	3: 20,024,137 (GRCm39)	V326M	probably damaging	Het
Cyp7b1	G	A	3: 18,151,782 (GRCm39)	Q144*	probably null	Het
Dnah10	T	C	5: 124,864,490 (GRCm39)	S2232P	probably damaging	Het
Dnah17	T	C	11: 118,009,697 (GRCm39)	E625G	possibly damaging	Het
Dnah7c	T	A	1: 46,571,910 (GRCm39)	D794E	probably benign	Het
Dusp10	G	A	1: 183,769,414 (GRCm39)	V127M	probably benign	Het
Dysf	G	C	6: 84,090,962 (GRCm39)	W1015C	probably damaging	Het
Fbxw17	T	C	13: 50,577,808 (GRCm39)	Y104H	probably damaging	Het
Gm6408	G	A	5: 146,420,647 (GRCm39)	E176K	probably damaging	Het
Gp1bb	T	A	16: 18,439,689 (GRCm39)	D135V	possibly damaging	Het
Gprin1	C	T	13: 54,886,069 (GRCm39)	C735Y	probably damaging	Het
Heatr9	T	A	11: 83,411,446 (GRCm39)	M30L	possibly damaging	Het
Hhat	G	A	1: 192,376,134 (GRCm39)	T333I	possibly damaging	Het
Htr5b	A	G	1: 121,438,223 (GRCm39)	F336S	probably damaging	Het
Ippk	T	G	13: 49,590,181 (GRCm39)		probably null	Het
Jph1	T	A	1: 17,074,410 (GRCm39)	H11L	possibly damaging	Het
Kif12	T	A	4: 63,084,717 (GRCm39)	I534L	probably benign	Het
Lemd3	A	T	10: 120,788,137 (GRCm39)	F523I	probably benign	Het
Lgsn	C	A	1: 31,229,508 (GRCm39)	H76Q	probably benign	Het
Lipm	T	A	19: 34,089,497 (GRCm39)	W152R	probably damaging	Het
Mei1	A	T	15: 81,978,200 (GRCm39)	R216W	probably damaging	Het
Mybpc1	C	T	10: 88,389,274 (GRCm39)	G379S	probably damaging	Het
Myh8	A	G	11: 67,179,142 (GRCm39)	T512A	probably benign	Het
Nf1	A	G	11: 79,337,849 (GRCm39)		probably null	Het
Npc1	T	C	18: 12,343,605 (GRCm39)	T463A	probably benign	Het
Or2y13	G	A	11: 49,415,011 (GRCm39)	V154M	probably benign	Het
Or6c7	A	T	10: 129,323,277 (GRCm39)	I133F	probably damaging	Het
Osbpl11	T	G	16: 33,047,309 (GRCm39)	I424R	possibly damaging	Het
Pnma8b	A	T	7: 16,680,181 (GRCm39)	K388N	possibly damaging	Het
Ppp1r26	A	T	2: 28,341,171 (GRCm39)	K267I	probably damaging	Het
Psmb5	A	T	14: 54,854,166 (GRCm39)	M104K	probably damaging	Het
Ptges2	T	C	2: 32,292,318 (GRCm39)	V378A	probably benign	Het
Rcan2	C	T	17: 44,147,216 (GRCm39)	S18F	probably benign	Het
Saxo5	A	T	8: 3,526,309 (GRCm39)	D154V	probably damaging	Het
Sf3b2	C	T	19: 5,324,545 (GRCm39)	R859Q	probably benign	Het
Slc7a1	G	A	5: 148,289,256 (GRCm39)			Het
Spata31d1a	T	A	13: 59,851,448 (GRCm39)	T227S	probably benign	Het
Sptbn2	T	A	19: 4,794,173 (GRCm39)	V1459E	possibly damaging	Het
Srgap2	T	C	1: 131,247,275 (GRCm39)	I586V	probably benign	Het
St6galnac1	G	A	11: 116,657,833 (GRCm39)	R356*	probably null	Het
Taf5	T	A	19: 47,059,650 (GRCm39)	F265I	probably damaging	Het
Tkfc	T	A	19: 10,573,727 (GRCm39)	I229L	probably benign	Het
Tmem132c	T	A	5: 127,436,679 (GRCm39)	L56Q	probably damaging	Het
Togaram2	C	T	17: 72,016,638 (GRCm39)	A665V	probably damaging	Het
Ttn	G	A	2: 76,537,390 (GRCm39)	T34846I	probably benign	Het
Tyr	G	A	7: 87,142,548 (GRCm39)	A4V	probably benign	Het
Ubap2	A	C	4: 41,206,221 (GRCm39)	F549L	probably damaging	Het
Usp2	T	C	9: 44,001,339 (GRCm39)	S294P	probably damaging	Het
Vrk3	A	G	7: 44,407,187 (GRCm39)	N53D	probably damaging	Het
Zfp324	T	C	7: 12,705,142 (GRCm39)	S444P	probably damaging	Het
Zfp597	T	C	16: 3,683,791 (GRCm39)	I322V	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
R4422:Or12e10	UTSW	2	87,640,989 (GRCm39)	missense	probably damaging	0.97
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
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'- AACATGAGGTTTTGCACAGAC -3'
(R):5'- TGGGACAGTCACTGATACATAAC -3'

Sequencing Primer
(F):5'- TTGCACAGACACTTATTAACAGC -3'
(R):5'- TGATACATAACAGATTTCCAGAGAGG -3'

Posted On

2019-05-13