Mutagenetix > Incidental Mutation

Incidental Mutation 'R8492:Or12k7'

658027

Institutional Source

Beutler Lab

Gene Symbol

Or12k7

Ensembl Gene

ENSMUSG00000083361

Gene Name

olfactory receptor family 12 subfamily K member 7

Synonyms

MOR159-1, Olfr360, GA_x6K02T2NLDC-33760081-33761034

MMRRC Submission

067934-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8492 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36958319-36959272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36958695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 126 (I126N)

Ref Sequence

ENSEMBL: ENSMUSP00000149581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120704] [ENSMUST00000216706]

AlphaFold

Q8VFP3

Predicted Effect

probably damaging
Transcript: ENSMUST00000120704
AA Change: I126N

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

SMART Domains

Protein: ENSMUSP00000114121
Gene: ENSMUSG00000083361
AA Change: I126N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2e-45	PFAM
Pfam:7TM_GPCR_Srsx	35	206	6e-7	PFAM
Pfam:7tm_1	41	289	5.6e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216706
AA Change: I126N

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

Coding Region Coverage

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

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	G	A	10: 29,094,243 (GRCm39)	R43K	possibly damaging	Het
Abcc2	A	T	19: 43,793,410 (GRCm39)	Y354F	probably benign	Het
Aloxe3	A	T	11: 69,017,301 (GRCm39)	T25S	possibly damaging	Het
Als2	T	C	1: 59,250,503 (GRCm39)	K414E	probably damaging	Het
Ankmy2	A	T	12: 36,226,590 (GRCm39)	I95F	probably damaging	Het
Ankrd35	T	G	3: 96,589,529 (GRCm39)		probably null	Het
Ap3b1	A	G	13: 94,531,294 (GRCm39)	N91S	possibly damaging	Het
Apip	T	A	2: 102,922,866 (GRCm39)	L228H	probably damaging	Het
Arhgap23	A	G	11: 97,365,847 (GRCm39)	Y488C	probably damaging	Het
Asah2	G	A	19: 31,983,659 (GRCm39)	T595M	probably benign	Het
Ccdc174	G	C	6: 91,865,138 (GRCm39)	R132T	probably benign	Het
Ccng2	A	C	5: 93,419,313 (GRCm39)	H233P	probably damaging	Het
Cemip	A	G	7: 83,622,422 (GRCm39)	F586L	probably damaging	Het
Cenpf	A	G	1: 189,390,926 (GRCm39)	S969P	probably damaging	Het
Cep170b	G	A	12: 112,711,134 (GRCm39)	D1505N	probably damaging	Het
Colec12	T	A	18: 9,876,980 (GRCm39)		probably null	Het
Cytip	A	G	2: 58,027,869 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,167,525 (GRCm39)	S1026T	probably damaging	Het
Disc1	T	A	8: 125,817,177 (GRCm39)	D372E	probably damaging	Het
Dlgap2	A	T	8: 14,828,271 (GRCm39)	M560L	possibly damaging	Het
Dync2li1	C	A	17: 84,957,134 (GRCm39)		probably null	Het
Eif3c	C	T	7: 126,162,282 (GRCm39)	G180D	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
G6pc2	A	G	2: 69,050,586 (GRCm39)	I70M	probably damaging	Het
Gm5145	A	T	17: 20,790,681 (GRCm39)	I20F	probably damaging	Het
Hba-x	T	A	11: 32,227,921 (GRCm39)	F128L	probably benign	Het
Hspb1	G	A	5: 135,918,222 (GRCm39)	E190K	possibly damaging	Het
Ift122	T	A	6: 115,863,966 (GRCm39)	S246T	probably benign	Het
Inppl1	A	T	7: 101,475,985 (GRCm39)	S828T	probably damaging	Het
Krt84	C	A	15: 101,438,051 (GRCm39)	Q301H	probably damaging	Het
Malrd1	T	G	2: 15,614,934 (GRCm39)	S250A		Het
Mettl21e	A	G	1: 44,245,553 (GRCm39)	I231T	probably damaging	Het
Miip	T	C	4: 147,945,881 (GRCm39)	D341G	probably damaging	Het
Ncoa1	T	C	12: 4,313,473 (GRCm39)	D1287G	probably damaging	Het
Ndufb5	T	G	3: 32,805,377 (GRCm39)		probably null	Het
Neb	T	C	2: 52,203,224 (GRCm39)	E309G	probably damaging	Het
Nf1	T	A	11: 79,299,248 (GRCm39)	F199I	probably benign	Het
Pcdhgc3	T	A	18: 37,940,347 (GRCm39)	Y249*	probably null	Het
Plekhg3	G	T	12: 76,622,790 (GRCm39)	V677L	probably benign	Het
Ppm1f	T	C	16: 16,733,042 (GRCm39)	Y25H	probably damaging	Het
Prok2	A	T	6: 99,691,437 (GRCm39)	H75Q	probably benign	Het
Ralgapa2	A	T	2: 146,184,524 (GRCm39)	H1494Q	possibly damaging	Het
Rapgef6	T	G	11: 54,581,063 (GRCm39)	I1277S	probably damaging	Het
Rhob	G	T	12: 8,549,531 (GRCm39)	Y34*	probably null	Het
Rnf141	T	G	7: 110,436,407 (GRCm39)	D7A	probably benign	Het
Robo1	T	C	16: 72,809,911 (GRCm39)	S1220P	probably benign	Het
Rpl13a	A	G	7: 44,775,945 (GRCm39)	V48A	possibly damaging	Het
Serpinb9f	C	A	13: 33,518,587 (GRCm39)	H362Q	probably damaging	Het
Shld2	T	A	14: 33,967,189 (GRCm39)	K122N	probably damaging	Het
Slc22a8	G	T	19: 8,571,595 (GRCm39)	V109L	probably damaging	Het
Slc5a10	A	G	11: 61,564,809 (GRCm39)	V390A	probably benign	Het
Snx14	T	C	9: 88,263,869 (GRCm39)	N839D	possibly damaging	Het
Taf1c	G	A	8: 120,325,456 (GRCm39)	T802I	probably benign	Het
Tdh	C	A	14: 63,730,269 (GRCm39)	D337Y	probably damaging	Het
Tmem156	A	T	5: 65,222,438 (GRCm39)	Y255N	possibly damaging	Het
Tmpo	C	A	10: 90,997,720 (GRCm39)	R689L	probably benign	Het
Trim56	A	C	5: 137,141,783 (GRCm39)	C578G	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Trpv3	G	A	11: 73,179,035 (GRCm39)	W481*	probably null	Het
Tssk3	T	C	4: 129,383,445 (GRCm39)	M76V	probably benign	Het
Vmn1r215	A	T	13: 23,260,056 (GRCm39)	Y32F	possibly damaging	Het
Vmn1r53	A	G	6: 90,200,394 (GRCm39)	I310T	possibly damaging	Het
Vmn2r112	A	G	17: 22,821,470 (GRCm39)	T148A	probably benign	Het
Zdhhc14	G	A	17: 5,762,689 (GRCm39)	V198I	probably damaging	Het
Zfp109	T	C	7: 23,927,499 (GRCm39)	R637G	possibly damaging	Het
Zic5	G	T	14: 122,702,474 (GRCm39)	Q86K	unknown	Het
Zzef1	T	A	11: 72,777,572 (GRCm39)	M1801K	probably damaging	Het
Zzef1	T	G	11: 72,763,430 (GRCm39)	V1359G	probably damaging	Het

Other mutations in Or12k7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02394:Or12k7	APN	2	36,958,497 (GRCm39)	missense	probably damaging	1.00
H8786:Or12k7	UTSW	2	36,958,341 (GRCm39)	missense	probably benign	0.41
R4551:Or12k7	UTSW	2	36,958,355 (GRCm39)	missense	probably benign	0.03
R4896:Or12k7	UTSW	2	36,958,422 (GRCm39)	missense	probably damaging	1.00
R5004:Or12k7	UTSW	2	36,958,422 (GRCm39)	missense	probably damaging	1.00
R5828:Or12k7	UTSW	2	36,959,001 (GRCm39)	missense	probably benign	0.00
R6173:Or12k7	UTSW	2	36,959,091 (GRCm39)	missense	possibly damaging	0.78
R6802:Or12k7	UTSW	2	36,958,427 (GRCm39)	missense	probably benign
R6859:Or12k7	UTSW	2	36,958,794 (GRCm39)	missense	probably damaging	0.98
R7171:Or12k7	UTSW	2	36,958,400 (GRCm39)	missense	possibly damaging	0.91
R7712:Or12k7	UTSW	2	36,958,916 (GRCm39)	missense	probably damaging	1.00
R7798:Or12k7	UTSW	2	36,959,186 (GRCm39)	missense	probably damaging	1.00
R8815:Or12k7	UTSW	2	36,958,429 (GRCm39)	missense	probably benign
R8870:Or12k7	UTSW	2	36,958,982 (GRCm39)	missense	probably benign
R9115:Or12k7	UTSW	2	36,959,052 (GRCm39)	missense	probably damaging	0.96
T0722:Or12k7	UTSW	2	36,958,449 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAGCTGTCCTTGATTGAC -3'
(R):5'- TAGCATTTCATTAAGCACTGGTCG -3'

Sequencing Primer
(F):5'- GCCAGCTGTCCTTGATTGACATATC -3'
(R):5'- TCATTAAGCACTGGTCGAGTAC -3'

Posted On

2021-01-18