Mutagenetix > Incidental Mutation

Incidental Mutation 'R0571:Or12k8'

46432

Institutional Source

Beutler Lab

Gene Symbol

Or12k8

Ensembl Gene

ENSMUSG00000075378

Gene Name

olfactory receptor family 12 subfamily K member 8

Synonyms

GA_x6K02T2NLDC-33777519-33776551, MOR159-3, Olfr361

MMRRC Submission

038762-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R0571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36974790-36975758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36975346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 138 (H138R)

Ref Sequence

ENSEMBL: ENSMUSP00000149770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100145] [ENSMUST00000214969] [ENSMUST00000216663]

AlphaFold

Q8VF16

Predicted Effect

probably benign
Transcript: ENSMUST00000100145
AA Change: H138R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097723
Gene: ENSMUSG00000075378
AA Change: H138R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.5e-44	PFAM
Pfam:7tm_1	41	289	2.3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126779

Predicted Effect

probably benign
Transcript: ENSMUST00000214969
AA Change: H138R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000216663
AA Change: H138R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.1070

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	C	T	14: 54,500,706 (GRCm39)	T165I	possibly damaging	Het
Acsl5	A	G	19: 55,277,343 (GRCm39)		probably benign	Het
Actl6b	C	A	5: 137,565,046 (GRCm39)		probably benign	Het
Atg13	T	C	2: 91,509,063 (GRCm39)		probably benign	Het
Cabyr	A	G	18: 12,883,909 (GRCm39)	E132G	probably damaging	Het
Cadps2	C	T	6: 23,583,411 (GRCm39)	V389I	probably damaging	Het
Capn2	C	T	1: 182,298,325 (GRCm39)	V647I	probably benign	Het
Card10	G	T	15: 78,671,601 (GRCm39)	P621Q	possibly damaging	Het
Catsperb	C	G	12: 101,569,033 (GRCm39)	H902D	possibly damaging	Het
Cers3	A	G	7: 66,435,805 (GRCm39)	M255V	possibly damaging	Het
Cfh	T	C	1: 140,030,071 (GRCm39)		probably null	Het
Chd3	A	C	11: 69,252,495 (GRCm39)		probably null	Het
Chpf2	G	T	5: 24,795,425 (GRCm39)	R316L	probably damaging	Het
Clca3a1	T	A	3: 144,713,550 (GRCm39)	N694Y	probably damaging	Het
Cplane1	A	G	15: 8,289,277 (GRCm39)	D2909G	unknown	Het
Ctbp2	G	A	7: 132,616,534 (GRCm39)	L44F	probably damaging	Het
Cttnbp2	T	C	6: 18,381,102 (GRCm39)	M1365V	probably benign	Het
D130052B06Rik	G	A	11: 33,573,922 (GRCm39)	R173H	probably benign	Het
Dchs1	A	G	7: 105,421,203 (GRCm39)	F406L	probably damaging	Het
Ddx43	T	A	9: 78,321,145 (GRCm39)	N384K	possibly damaging	Het
Drd5	G	A	5: 38,477,270 (GRCm39)	V88M	probably damaging	Het
Eefsec	A	T	6: 88,274,881 (GRCm39)	F361Y	probably benign	Het
Epb41	T	C	4: 131,717,215 (GRCm39)	D313G	probably damaging	Het
Etl4	T	C	2: 20,748,580 (GRCm39)	M104T	probably damaging	Het
Fabp7	A	T	10: 57,661,637 (GRCm39)	T37S	probably benign	Het
Fam186b	T	C	15: 99,184,834 (GRCm39)	T30A	probably benign	Het
Fam83d	G	A	2: 158,627,611 (GRCm39)	W433*	probably null	Het
Fmnl2	A	T	2: 52,944,503 (GRCm39)	T161S	probably benign	Het
Ghsr	C	T	3: 27,426,165 (GRCm39)	R74C	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Gtpbp4	A	T	13: 9,040,722 (GRCm39)		probably benign	Het
Hamp2	A	G	7: 30,623,511 (GRCm39)	L17P	possibly damaging	Het
Heatr1	C	A	13: 12,445,121 (GRCm39)	S1581R	probably damaging	Het
Hpf1	T	C	8: 61,353,147 (GRCm39)	V176A	probably benign	Het
Hydin	T	A	8: 111,240,735 (GRCm39)		probably null	Het
Ighg2c	G	A	12: 113,252,382 (GRCm39)	Q57*	probably null	Het
Itgb4	A	G	11: 115,870,594 (GRCm39)	N141S	possibly damaging	Het
Kif13b	G	T	14: 64,988,977 (GRCm39)	R786L	probably damaging	Het
Lhx3	C	A	2: 26,091,136 (GRCm39)	W391L	probably damaging	Het
Map1s	T	A	8: 71,365,551 (GRCm39)	V152D	probably damaging	Het
Map4	T	C	9: 109,865,834 (GRCm39)	M608T	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mfn1	T	C	3: 32,615,621 (GRCm39)	I328T	probably damaging	Het
Mif-ps9	G	A	19: 56,743,675 (GRCm39)		noncoding transcript	Het
Myh4	A	T	11: 67,141,157 (GRCm39)	I740F	possibly damaging	Het
Neo1	A	G	9: 58,893,069 (GRCm39)	V191A	probably benign	Het
Nfatc4	T	C	14: 56,067,485 (GRCm39)	V565A	probably damaging	Het
Nrxn2	G	C	19: 6,523,563 (GRCm39)	E525D	probably damaging	Het
Pcdhb12	A	T	18: 37,570,261 (GRCm39)	D469V	probably damaging	Het
Pcdhb6	G	T	18: 37,468,167 (GRCm39)	V363L	probably benign	Het
Pkd1l2	T	C	8: 117,808,957 (GRCm39)	T78A	probably benign	Het
Primpol	T	G	8: 47,034,674 (GRCm39)	D418A	probably damaging	Het
Rbm12b1	G	A	4: 12,146,248 (GRCm39)	S740N	probably benign	Het
Rpe65	T	C	3: 159,305,986 (GRCm39)	L15P	probably damaging	Het
Rxrb	CGCGGCGGCGGCGGCGGCGGC	CGCGGCGGCGGCGGCGGC	17: 34,251,106 (GRCm39)		probably benign	Het
Sectm1a	A	G	11: 120,959,928 (GRCm39)		probably benign	Het
Sft2d1	C	A	17: 8,545,782 (GRCm39)		probably benign	Het
Slc22a18	A	G	7: 143,045,598 (GRCm39)		probably benign	Het
Slu7	G	A	11: 43,332,405 (GRCm39)		probably null	Het
Smc4	T	C	3: 68,931,622 (GRCm39)	V572A	probably damaging	Het
Spire2	T	A	8: 124,080,855 (GRCm39)	I33N	probably damaging	Het
Tbck	T	A	3: 132,458,403 (GRCm39)	C678S	probably damaging	Het
Tnrc6b	T	C	15: 80,797,539 (GRCm39)	V1362A	probably damaging	Het
Ttn	T	C	2: 76,570,326 (GRCm39)	K25110E	possibly damaging	Het
Ugt2b35	A	G	5: 87,148,793 (GRCm39)	S15G	possibly damaging	Het
Upf3a	T	A	8: 13,842,184 (GRCm39)	I200K	probably damaging	Het
Vill	G	C	9: 118,899,701 (GRCm39)	G295A	possibly damaging	Het
Vmn1r191	A	T	13: 22,363,217 (GRCm39)	V179D	probably damaging	Het
Vmn2r74	T	C	7: 85,601,629 (GRCm39)	T670A	probably damaging	Het
Zfp169	T	C	13: 48,643,166 (GRCm39)	T654A	possibly damaging	Het
Zfp646	A	G	7: 127,481,138 (GRCm39)	E1105G	probably damaging	Het
Zyg11b	A	T	4: 108,117,239 (GRCm39)	Y334N	probably damaging	Het

Other mutations in Or12k8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Or12k8	APN	2	36,975,407 (GRCm39)	missense	possibly damaging	0.94
IGL02210:Or12k8	APN	2	36,975,631 (GRCm39)	missense	possibly damaging	0.54
IGL03180:Or12k8	APN	2	36,975,722 (GRCm39)	missense	possibly damaging	0.58
R1715:Or12k8	UTSW	2	36,975,188 (GRCm39)	missense	probably damaging	1.00
R1853:Or12k8	UTSW	2	36,975,232 (GRCm39)	missense	probably damaging	1.00
R2403:Or12k8	UTSW	2	36,974,986 (GRCm39)	missense	probably benign	0.34
R3009:Or12k8	UTSW	2	36,975,089 (GRCm39)	missense	probably benign	0.00
R3713:Or12k8	UTSW	2	36,975,517 (GRCm39)	missense	possibly damaging	0.73
R4355:Or12k8	UTSW	2	36,974,942 (GRCm39)	missense	probably benign	0.44
R4476:Or12k8	UTSW	2	36,975,073 (GRCm39)	missense	probably damaging	1.00
R5191:Or12k8	UTSW	2	36,974,990 (GRCm39)	missense	probably benign	0.00
R5387:Or12k8	UTSW	2	36,975,731 (GRCm39)	missense	possibly damaging	0.58
R5529:Or12k8	UTSW	2	36,974,921 (GRCm39)	missense	possibly damaging	0.67
R5891:Or12k8	UTSW	2	36,974,990 (GRCm39)	missense	probably benign	0.00
R7078:Or12k8	UTSW	2	36,975,608 (GRCm39)	missense	possibly damaging	0.93
R7208:Or12k8	UTSW	2	36,975,670 (GRCm39)	missense	probably benign	0.26
R7793:Or12k8	UTSW	2	36,974,933 (GRCm39)	missense	possibly damaging	0.81
R8007:Or12k8	UTSW	2	36,974,855 (GRCm39)	missense	probably damaging	1.00
R8843:Or12k8	UTSW	2	36,975,307 (GRCm39)	missense	probably damaging	1.00
R8970:Or12k8	UTSW	2	36,975,478 (GRCm39)	missense	probably benign	0.00
R9155:Or12k8	UTSW	2	36,975,016 (GRCm39)	missense	probably benign	0.01
R9595:Or12k8	UTSW	2	36,975,204 (GRCm39)	missense	possibly damaging	0.78
Z1176:Or12k8	UTSW	2	36,975,648 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATGGGGCTTACCACCACAGCTAC -3'
(R):5'- AGTGCTTGTTGCTTGCTCAGACC -3'

Sequencing Primer
(F):5'- CACCCTCAGTGAAGATTAACATTTC -3'
(R):5'- ACAACTATCATTGTTCCCCAGATG -3'

Posted On

2013-06-11