Mutagenetix > Incidental Mutation

Incidental Mutation 'R8843:Or12k8'

674508

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

068670-MU

Accession Numbers

Essential gene?

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

Stock #

R8843 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36974790-36975758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 36975307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 151 (V151G)

Ref Sequence

ENSEMBL: ENSMUSP00000149770 (fasta)

Gene Model

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

AlphaFold

Q8VF16

Predicted Effect

probably damaging
Transcript: ENSMUST00000100145
AA Change: V151G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097723
Gene: ENSMUSG00000075378
AA Change: V151G

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

probably damaging
Transcript: ENSMUST00000214969
AA Change: V151G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216663
AA Change: V151G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

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
AB124611	C	G	9: 21,440,331 (GRCm39)	Q106E	probably benign	Het
Abi2	A	G	1: 60,492,888 (GRCm39)	M387V	probably null	Het
Adra2c	A	T	5: 35,437,707 (GRCm39)	N160Y	probably damaging	Het
Ager	G	A	17: 34,819,716 (GRCm39)	R383H	probably benign	Het
Arhgef28	C	T	13: 98,130,557 (GRCm39)	R427H	probably benign	Het
Atl1	T	A	12: 69,972,922 (GRCm39)	S81T	probably damaging	Het
Ccdc80	T	A	16: 44,947,470 (GRCm39)		probably benign	Het
Cdh10	T	A	15: 19,013,487 (GRCm39)	F696I	possibly damaging	Het
Cdk2ap2	T	C	19: 4,147,429 (GRCm39)	S2P	unknown	Het
Cela1	G	A	15: 100,580,821 (GRCm39)	T145I	probably benign	Het
Celsr2	A	T	3: 108,303,443 (GRCm39)		probably benign	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Col22a1	A	G	15: 71,878,503 (GRCm39)	I218T	probably damaging	Het
Copb1	T	C	7: 113,820,935 (GRCm39)	I785V	possibly damaging	Het
Dnajc16	A	T	4: 141,492,002 (GRCm39)	V607E	possibly damaging	Het
Dnali1	A	T	4: 124,957,414 (GRCm39)	L110Q	probably damaging	Het
Epn1	A	G	7: 5,096,375 (GRCm39)	E223G	probably benign	Het
Erbb3	A	G	10: 128,414,325 (GRCm39)	L473P	possibly damaging	Het
Fhip1a	A	G	3: 85,568,318 (GRCm39)	I1067T	possibly damaging	Het
Gadl1	T	A	9: 115,835,569 (GRCm39)	D332E	probably benign	Het
Gm10801	TC	TCGAC	2: 98,494,151 (GRCm39)		probably benign	Het
Heg1	A	G	16: 33,570,863 (GRCm39)	S1188G	probably null	Het
Hipk3	G	A	2: 104,268,242 (GRCm39)	A575V	probably benign	Het
Htt	T	A	5: 35,046,809 (GRCm39)	I2375N	possibly damaging	Het
Klhl24	A	T	16: 19,938,980 (GRCm39)	K512*	probably null	Het
Krtdap	A	T	7: 30,488,952 (GRCm39)	Y40F	probably damaging	Het
Lhx1	A	T	11: 84,410,455 (GRCm39)	S381T	probably benign	Het
Lnpep	G	A	17: 17,773,203 (GRCm39)	P655L	probably damaging	Het
Map6d1	A	G	16: 20,055,386 (GRCm39)	V150A	probably benign	Het
Marchf10	A	G	11: 105,292,802 (GRCm39)	S202P	possibly damaging	Het
Med1	A	C	11: 98,080,102 (GRCm39)	L13R	possibly damaging	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Myh7	T	G	14: 55,212,752 (GRCm39)	D1431A	probably damaging	Het
Myo3b	G	T	2: 70,088,325 (GRCm39)	G863W	probably damaging	Het
Nat8f1	G	T	6: 85,887,907 (GRCm39)	Q18K	probably benign	Het
Ncaph	A	G	2: 126,950,529 (GRCm39)	V576A	probably benign	Het
Nfkbia	T	G	12: 55,539,196 (GRCm39)	D39A	possibly damaging	Het
Nrxn2	G	T	19: 6,555,057 (GRCm39)	G1179C	probably damaging	Het
P4ha1	A	G	10: 59,205,455 (GRCm39)	D495G	probably damaging	Het
Phf20	C	T	2: 156,144,843 (GRCm39)	A817V	probably benign	Het
Phlpp2	A	T	8: 110,652,431 (GRCm39)	I592F	probably benign	Het
Polq	A	G	16: 36,832,280 (GRCm39)	S7G	unknown	Het
Ppfia3	G	T	7: 44,997,941 (GRCm39)	Q729K	probably benign	Het
Prmt8	A	C	6: 127,706,462 (GRCm39)	F110V	probably damaging	Het
Psca	A	T	15: 74,587,868 (GRCm39)		probably null	Het
Pus7	G	T	5: 23,980,754 (GRCm39)	D165E	probably benign	Het
Raver2	A	G	4: 100,994,942 (GRCm39)	E555G	probably damaging	Het
Rb1cc1	G	A	1: 6,315,395 (GRCm39)	V457M	probably damaging	Het
Rbp3	A	G	14: 33,676,522 (GRCm39)	R157G	probably benign	Het
Rin3	T	G	12: 102,335,857 (GRCm39)	H589Q	probably benign	Het
Scart2	A	C	7: 139,828,913 (GRCm39)	T191P	possibly damaging	Het
Sgk2	T	A	2: 162,854,890 (GRCm39)	S334T	probably damaging	Het
Sh2d4b	T	C	14: 40,614,832 (GRCm39)	M31V	probably benign	Het
Slc23a3	G	A	1: 75,106,271 (GRCm39)	T316I	probably damaging	Het
Slc5a4b	C	A	10: 75,910,925 (GRCm39)	G304C	probably damaging	Het
Slc7a14	A	G	3: 31,311,759 (GRCm39)	V87A	probably damaging	Het
Slitrk3	A	T	3: 72,956,164 (GRCm39)	N869K	probably benign	Het
St8sia6	T	C	2: 13,661,896 (GRCm39)	R312G	possibly damaging	Het
Strip2	A	T	6: 29,923,968 (GRCm39)	E94V	probably benign	Het
Sycp2	T	C	2: 177,990,052 (GRCm39)	D1398G	probably damaging	Het
Syne1	C	A	10: 5,143,040 (GRCm39)	V114F	possibly damaging	Het
Syne1	T	C	10: 5,280,204 (GRCm39)	K1630E	probably benign	Het
Sytl2	A	G	7: 90,025,334 (GRCm39)	N441D	probably benign	Het
Thsd7a	A	G	6: 12,501,136 (GRCm39)	C424R		Het
Tln2	T	C	9: 67,302,827 (GRCm39)	D48G	probably damaging	Het
Treml1	A	G	17: 48,673,852 (GRCm39)	T288A	probably damaging	Het
Ttn	T	C	2: 76,596,113 (GRCm39)	I20267V	probably benign	Het
Ttn	A	T	2: 76,679,259 (GRCm39)	V10821D	unknown	Het
Vmn2r111	A	C	17: 22,767,011 (GRCm39)	S829A	probably benign	Het
Xcl1	T	A	1: 164,763,079 (GRCm39)		probably benign	Het
Zdhhc23	A	T	16: 43,794,227 (GRCm39)	V149E	probably damaging	Het
Zfp273	A	T	13: 67,970,387 (GRCm39)	I12F	possibly damaging	Het
Zfp874a	A	T	13: 67,590,764 (GRCm39)	C307S	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
R0571:Or12k8	UTSW	2	36,975,346 (GRCm39)	missense	probably benign	0.00
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
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'- AAAATGGGGCTTACCACCAC -3'
(R):5'- ATCATTGTTCCCCAGATGCTG -3'

Sequencing Primer
(F):5'- GGGGCTTACCACCACAGCTAC -3'
(R):5'- CTGGTGCACACACTTTCTGTAAACAG -3'

Posted On

2021-07-15