Mutagenetix > Incidental Mutation

Incidental Mutation 'R6734:Or9k7'

528350

Institutional Source

Beutler Lab

Gene Symbol

Or9k7

Ensembl Gene

ENSMUSG00000045559

Gene Name

olfactory receptor family 9 subfamily K member 7

Synonyms

MOR210-5, Olfr827, GA_x6K02T2PULF-11878777-11877809

MMRRC Submission

044852-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R6734 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130046029-130046997 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130046126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 291 (F291S)

Ref Sequence

ENSEMBL: ENSMUSP00000149200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058123] [ENSMUST00000213568]

AlphaFold

Q8VEV5

Predicted Effect

probably benign
Transcript: ENSMUST00000058123
AA Change: F291S

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000089609
Gene: ENSMUSG00000045559
AA Change: F291S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	43	318	6e-53	PFAM
Pfam:7tm_1	53	300	2.5e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213568
AA Change: F291S

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216253

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Ano6	A	G	15: 95,847,417 (GRCm39)	K554R	probably damaging	Het
Arhgef10	A	T	8: 15,025,053 (GRCm39)	I703F	probably damaging	Het
Bbs1	T	C	19: 4,953,924 (GRCm39)	S80G	probably benign	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Camk1	C	A	6: 113,311,345 (GRCm39)	R352L	probably benign	Het
Cand1	G	A	10: 119,047,897 (GRCm39)	P531L	possibly damaging	Het
Cnot2	G	A	10: 116,334,058 (GRCm39)	P371S	possibly damaging	Het
Col24a1	C	A	3: 145,214,429 (GRCm39)	P1384Q	probably benign	Het
Csmd2	C	A	4: 128,357,606 (GRCm39)	T1689K	probably benign	Het
Cyp26a1	T	A	19: 37,689,660 (GRCm39)	L452H	probably damaging	Het
Dcpp2	T	C	17: 24,119,545 (GRCm39)	Y120H	probably damaging	Het
Dennd6a	G	T	14: 26,329,774 (GRCm39)	R115L	possibly damaging	Het
Eml2	T	A	7: 18,934,432 (GRCm39)	V377E	probably benign	Het
Fam135b	T	C	15: 71,334,629 (GRCm39)	E855G	probably benign	Het
Fam149a	A	T	8: 45,834,478 (GRCm39)	I107K	probably benign	Het
Fam227b	A	T	2: 125,968,896 (GRCm39)	Y59*	probably null	Het
Fbn2	T	C	18: 58,169,032 (GRCm39)	E2249G	probably damaging	Het
Flrt1	T	C	19: 7,073,524 (GRCm39)	D341G	possibly damaging	Het
Galnt9	G	A	5: 110,768,465 (GRCm39)	R587H	probably damaging	Het
Gsdma2	A	G	11: 98,540,416 (GRCm39)	T112A	possibly damaging	Het
Klhl24	T	C	16: 19,926,279 (GRCm39)	V269A	probably damaging	Het
Lcorl	A	G	5: 45,890,839 (GRCm39)	S505P	probably damaging	Het
Liph	A	G	16: 21,802,707 (GRCm39)	S121P	probably damaging	Het
Lrp4	G	A	2: 91,316,242 (GRCm39)	V787M	possibly damaging	Het
Lrrd1	A	C	5: 3,900,226 (GRCm39)	D177A	possibly damaging	Het
Mbd1	G	A	18: 74,409,114 (GRCm39)	R399H	probably damaging	Het
Naa25	C	T	5: 121,576,888 (GRCm39)	T879M	possibly damaging	Het
Naa35	T	G	13: 59,756,005 (GRCm39)	L147R	possibly damaging	Het
Ninl	C	A	2: 150,787,003 (GRCm39)		probably null	Het
Nrap	T	C	19: 56,333,941 (GRCm39)	D972G	probably damaging	Het
Pdzd2	T	C	15: 12,592,551 (GRCm39)	E31G	probably damaging	Het
Plec	C	T	15: 76,078,603 (GRCm39)	E41K	probably damaging	Het
Plxnb1	A	T	9: 108,937,988 (GRCm39)	K1245*	probably null	Het
Ppfia1	T	C	7: 144,032,790 (GRCm39)	T1263A	probably damaging	Het
Prex2	G	A	1: 11,150,283 (GRCm39)	V152I	probably damaging	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Prss3l	T	C	6: 41,422,321 (GRCm39)	Y28C	probably damaging	Het
Prune2	T	G	19: 16,981,097 (GRCm39)	F85V	probably damaging	Het
Rrp1b	T	G	17: 32,274,278 (GRCm39)		probably benign	Het
Sec62	A	G	3: 30,864,609 (GRCm39)	T158A	probably benign	Het
Sema6a	G	A	18: 47,412,236 (GRCm39)	T526I	probably benign	Het
Shank1	G	T	7: 44,003,110 (GRCm39)	A1610S	probably benign	Het
Slc24a4	T	C	12: 102,185,259 (GRCm39)	V123A	probably damaging	Het
Stk11ip	T	C	1: 75,509,013 (GRCm39)	V714A	probably benign	Het
Tas1r3	T	C	4: 155,945,257 (GRCm39)	T655A	probably damaging	Het
Tns2	G	T	15: 102,011,551 (GRCm39)	L10F	probably damaging	Het
Trmt10c	A	G	16: 55,854,489 (GRCm39)	V382A	probably benign	Het
Unc45a	G	C	7: 79,986,746 (GRCm39)	T149R	probably damaging	Het
Zhx3	T	G	2: 160,623,640 (GRCm39)	I176L	probably damaging	Het
Zscan12	T	A	13: 21,552,966 (GRCm39)	C263*	probably null	Het

Other mutations in Or9k7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02351:Or9k7	APN	10	130,046,603 (GRCm39)	missense	probably damaging	1.00
IGL02358:Or9k7	APN	10	130,046,603 (GRCm39)	missense	probably damaging	1.00
R0179:Or9k7	UTSW	10	130,046,207 (GRCm39)	missense	probably damaging	1.00
R0401:Or9k7	UTSW	10	130,046,489 (GRCm39)	missense	probably damaging	1.00
R0607:Or9k7	UTSW	10	130,046,939 (GRCm39)	missense	probably benign	0.33
R1139:Or9k7	UTSW	10	130,046,948 (GRCm39)	missense	possibly damaging	0.53
R1462:Or9k7	UTSW	10	130,046,592 (GRCm39)	missense	probably benign	0.30
R1462:Or9k7	UTSW	10	130,046,592 (GRCm39)	missense	probably benign	0.30
R1645:Or9k7	UTSW	10	130,046,081 (GRCm39)	missense	probably damaging	0.99
R4712:Or9k7	UTSW	10	130,046,291 (GRCm39)	missense	possibly damaging	0.78
R4966:Or9k7	UTSW	10	130,046,306 (GRCm39)	missense	probably benign	0.31
R5219:Or9k7	UTSW	10	130,046,793 (GRCm39)	missense	possibly damaging	0.84
R6363:Or9k7	UTSW	10	130,046,906 (GRCm39)	missense	possibly damaging	0.93
R6909:Or9k7	UTSW	10	130,046,622 (GRCm39)	missense	probably benign
R7180:Or9k7	UTSW	10	130,046,811 (GRCm39)	missense	probably benign	0.05
R7549:Or9k7	UTSW	10	130,046,853 (GRCm39)	missense	probably benign	0.01
R7665:Or9k7	UTSW	10	130,047,130 (GRCm39)	splice site	probably null
R8001:Or9k7	UTSW	10	130,046,729 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTGTAAATGGCAACGATCAG -3'
(R):5'- AAGATGGTGTCACTTAGTCTGGC -3'

Sequencing Primer
(F):5'- TGGCAACGATCAGACAGATAACTATC -3'
(R):5'- GGCTGTGCTTATTATTTTGCCAAC -3'

Posted On

2018-07-24