Mutagenetix > Incidental Mutation

Incidental Mutation 'R1715:Or12k8'

190911

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

039748-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R1715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36974790-36975758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36975188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 191 (P191S)

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: P191S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097723
Gene: ENSMUSG00000075378
AA Change: P191S

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 damaging
Transcript: ENSMUST00000214969
AA Change: P191S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216663
AA Change: P191S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,982,406 (GRCm39)	T12M	probably damaging	Het
Alms1	T	A	6: 85,606,034 (GRCm39)	Y2561*	probably null	Het
Atp10a	G	A	7: 58,436,253 (GRCm39)	V348I	probably damaging	Het
Best2	T	C	8: 85,737,852 (GRCm39)	Y181C	probably benign	Het
Btaf1	T	A	19: 36,946,521 (GRCm39)	D442E	probably damaging	Het
Carmil3	T	G	14: 55,741,989 (GRCm39)	V1153G	probably benign	Het
Cc2d2a	A	G	5: 43,876,003 (GRCm39)	I993M	probably damaging	Het
Ccng1	G	A	11: 40,642,941 (GRCm39)	P169S	probably benign	Het
Cip2a	C	T	16: 48,826,082 (GRCm39)	T383I	probably benign	Het
Cmtr2	T	C	8: 110,949,430 (GRCm39)	L580P	probably damaging	Het
Col22a1	T	C	15: 71,878,830 (GRCm39)	E109G	possibly damaging	Het
Cplane1	T	A	15: 8,256,384 (GRCm39)		probably null	Het
Crispld2	G	T	8: 120,750,388 (GRCm39)	W264L	possibly damaging	Het
Cyp2c38	T	C	19: 39,393,239 (GRCm39)	H276R	probably benign	Het
Dag1	A	T	9: 108,085,914 (GRCm39)	V409E	possibly damaging	Het
Efcab15	T	C	11: 103,090,650 (GRCm39)		probably null	Het
Emc8	T	C	8: 121,385,294 (GRCm39)	N146S	probably benign	Het
Glt8d1	T	C	14: 30,733,478 (GRCm39)	V321A	possibly damaging	Het
Gm5174	C	T	10: 86,492,776 (GRCm39)		noncoding transcript	Het
Hdac10	G	T	15: 89,010,912 (GRCm39)		probably null	Het
Hectd4	A	G	5: 121,482,881 (GRCm39)	D3144G	possibly damaging	Het
Ifna11	C	T	4: 88,738,473 (GRCm39)	S93L	probably damaging	Het
Il16	T	C	7: 83,297,936 (GRCm39)	N431S	probably benign	Het
Irf8	A	T	8: 121,481,127 (GRCm39)	E237V	probably damaging	Het
Lrp1b	A	G	2: 41,075,993 (GRCm39)	Y1769H	probably damaging	Het
Lrrc9	A	G	12: 72,524,073 (GRCm39)	N761D	probably damaging	Het
Mbtps1	T	C	8: 120,269,469 (GRCm39)	Y207C	probably benign	Het
Myo9a	A	G	9: 59,739,583 (GRCm39)	E765G	probably damaging	Het
Nlrp3	A	G	11: 59,434,177 (GRCm39)	D80G	probably damaging	Het
Or2ag15	G	C	7: 106,340,755 (GRCm39)	P129A	probably damaging	Het
Or7g18	A	T	9: 18,787,090 (GRCm39)	I156F	probably benign	Het
Pcyt2	T	A	11: 120,506,677 (GRCm39)		probably null	Het
Plxnd1	T	C	6: 115,945,642 (GRCm39)	T944A	probably benign	Het
Prss3b	A	G	6: 41,009,870 (GRCm39)		probably null	Het
Psd4	A	T	2: 24,295,344 (GRCm39)	I833F	probably damaging	Het
Psmd7	A	G	8: 108,307,817 (GRCm39)	I222T	probably benign	Het
Rap2b	A	G	3: 61,272,611 (GRCm39)	E45G	probably damaging	Het
Rbm22	T	C	18: 60,693,916 (GRCm39)	S7P	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rfx4	A	G	10: 84,680,144 (GRCm39)	N107S	probably damaging	Het
Ripk2	T	A	4: 16,155,192 (GRCm39)		probably null	Het
Rpgrip1	T	A	14: 52,378,148 (GRCm39)	C499S	possibly damaging	Het
Scarf1	T	C	11: 75,414,870 (GRCm39)	S515P	probably damaging	Het
Sgip1	T	C	4: 102,772,256 (GRCm39)	V215A	probably benign	Het
Sis	T	C	3: 72,796,343 (GRCm39)	I1813V	possibly damaging	Het
Slc17a3	A	T	13: 24,040,724 (GRCm39)	T317S	probably benign	Het
Slc35e1	T	C	8: 73,237,821 (GRCm39)	N340S	probably benign	Het
Smg6	A	G	11: 74,820,256 (GRCm39)	I176V	probably benign	Het
Smim17	T	C	7: 6,432,325 (GRCm39)	L89S	probably damaging	Het
Synm	T	C	7: 67,386,051 (GRCm39)	N95S	probably damaging	Het
Tdrd9	A	G	12: 112,002,873 (GRCm39)	K841E	possibly damaging	Het
Tep1	G	T	14: 51,092,024 (GRCm39)	F570L	possibly damaging	Het
Tgm3	G	A	2: 129,868,734 (GRCm39)		probably null	Het
Tra2b	T	C	16: 22,071,496 (GRCm39)	Y128C	possibly damaging	Het
Vmn2r17	T	C	5: 109,576,110 (GRCm39)	V327A	probably benign	Het
Wdr20rt	A	T	12: 65,274,088 (GRCm39)	D344V	probably damaging	Het
Zfp940	A	G	7: 29,544,363 (GRCm39)	C515R	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
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'- ACCCTTGCCTCTCAGGAGATTCAC -3'
(R):5'- GCCATAGCCTCTGTCTGCGAATAAC -3'

Sequencing Primer
(F):5'- GGACACTGCCTGAGATATAGTTTCC -3'
(R):5'- CTGTCTGCGAATAACATTGACC -3'

Posted On

2014-05-14