Mutagenetix > Incidental Mutation

Incidental Mutation 'R5837:Or9k2b'

449659

Institutional Source

Beutler Lab

Gene Symbol

Or9k2b

Ensembl Gene

ENSMUSG00000059862

Gene Name

olfactory receptor family 9 subfamily K member 2B

Synonyms

MOR210-2, GA_x6K02T2PULF-11851623-11850682, Olfr826

MMRRC Submission

044057-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R5837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130015806-130016747 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130016266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 161 (L161H)

Ref Sequence

ENSEMBL: ENSMUSP00000149119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078322] [ENSMUST00000203720] [ENSMUST00000216661]

AlphaFold

Q8VFU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000078322
AA Change: L161H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077436
Gene: ENSMUSG00000059862
AA Change: L161H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	309	2.3e-52	PFAM
Pfam:7tm_1	44	291	3.7e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203720
AA Change: L161H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144755
Gene: ENSMUSG00000059862
AA Change: L161H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	309	2.3e-52	PFAM
Pfam:7tm_1	44	291	3.7e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216661
AA Change: L161H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,323,371 (GRCm39)	R113Q	probably benign	Het
Ank1	A	G	8: 23,594,806 (GRCm39)	N605D	probably damaging	Het
Apob	A	G	12: 8,053,277 (GRCm39)	M1240V	probably benign	Het
Atf1	T	A	15: 100,152,265 (GRCm39)	I86N	probably damaging	Het
Best1	T	A	19: 9,966,483 (GRCm39)		probably null	Het
Bet1l	C	A	7: 140,434,694 (GRCm39)	R51L	probably benign	Het
Bpifa5	A	G	2: 154,005,598 (GRCm39)	Y60C	probably damaging	Het
Ccdc141	G	T	2: 76,938,781 (GRCm39)	Q275K	possibly damaging	Het
Cep295	T	A	9: 15,258,280 (GRCm39)	H241L	probably damaging	Het
Commd7	A	G	2: 153,471,144 (GRCm39)	V36A	possibly damaging	Het
Cyld	G	A	8: 89,468,032 (GRCm39)	S555N	probably damaging	Het
Cyp2j13	A	T	4: 95,959,919 (GRCm39)	I79N	probably damaging	Het
Dact2	A	G	17: 14,416,515 (GRCm39)	S562P	probably damaging	Het
Dnajc13	T	A	9: 104,053,865 (GRCm39)	I1664F	possibly damaging	Het
Ehmt1	A	G	2: 24,753,926 (GRCm39)	V277A	probably damaging	Het
Fbn1	A	T	2: 125,221,054 (GRCm39)		probably null	Het
Galnt6	G	A	15: 100,592,527 (GRCm39)	T560M	possibly damaging	Het
Glra1	G	T	11: 55,427,333 (GRCm39)		probably null	Het
Gm10762	C	T	2: 128,809,077 (GRCm39)		probably benign	Het
Greb1	C	T	12: 16,738,586 (GRCm39)	R1459H	probably damaging	Het
Ift140	A	G	17: 25,308,514 (GRCm39)	K1048E	probably damaging	Het
Ilk	T	C	7: 105,390,378 (GRCm39)		probably null	Het
Lgi4	C	T	7: 30,770,208 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,374,105 (GRCm39)	T59A	possibly damaging	Het
Lzic	G	T	4: 149,570,457 (GRCm39)		probably null	Het
Mef2d	A	G	3: 88,069,088 (GRCm39)	T286A	probably benign	Het
Mycbp2	C	A	14: 103,361,839 (GRCm39)	C4447F	probably damaging	Het
Ncoa2	A	G	1: 13,294,930 (GRCm39)		probably benign	Het
Nolc1	T	C	19: 46,071,622 (GRCm39)		probably benign	Het
Npl	T	C	1: 153,379,271 (GRCm39)	T271A	probably benign	Het
Nudt1	A	G	5: 140,320,295 (GRCm39)	R25G	probably damaging	Het
Nudt19	T	C	7: 35,251,061 (GRCm39)	E226G	possibly damaging	Het
Oc90	T	C	15: 65,748,295 (GRCm39)	D405G	probably benign	Het
Or10q1b	T	A	19: 13,682,324 (GRCm39)	C44*	probably null	Het
Or1e1c	A	G	11: 73,266,474 (GRCm39)	M300V	probably benign	Het
Or5as1	A	T	2: 86,980,699 (GRCm39)	F102Y	probably benign	Het
Pcdhb1	T	C	18: 37,398,880 (GRCm39)	I277T	possibly damaging	Het
Pcdhb9	C	A	18: 37,535,851 (GRCm39)	A615E	probably damaging	Het
Phrf1	C	G	7: 140,839,974 (GRCm39)	D1056E	probably benign	Het
Phyhip	C	A	14: 70,704,450 (GRCm39)	A223E	probably damaging	Het
Polr2h	T	A	16: 20,536,682 (GRCm39)	I4N	probably damaging	Het
Ppp1r12c	C	A	7: 4,500,403 (GRCm39)		probably benign	Het
Pramel11	A	G	4: 143,623,490 (GRCm39)	V228A	probably benign	Het
Psg17	T	A	7: 18,554,140 (GRCm39)	T37S	possibly damaging	Het
Ptprz1	T	C	6: 23,001,417 (GRCm39)	V1169A	probably benign	Het
Rabgap1l	T	C	1: 160,134,792 (GRCm39)		probably benign	Het
Rapgef3	C	T	15: 97,655,223 (GRCm39)		probably benign	Het
Rbp3	C	A	14: 33,676,230 (GRCm39)	H59Q	probably benign	Het
Robo3	T	A	9: 37,341,112 (GRCm39)		probably null	Het
Slco4c1	C	T	1: 96,746,707 (GRCm39)	E712K	probably benign	Het
Ssh3	T	C	19: 4,316,428 (GRCm39)	T168A	probably benign	Het
Stoml2	G	T	4: 43,028,989 (GRCm39)	N248K	probably damaging	Het
Tmigd1	A	G	11: 76,806,911 (GRCm39)		probably benign	Het
Tnc	T	A	4: 63,931,451 (GRCm39)	D753V	probably damaging	Het
Tnik	A	T	3: 28,722,202 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,667,180 (GRCm39)	S22G	possibly damaging	Het
Trmt2a	C	T	16: 18,067,326 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,547,718 (GRCm39)	T32151A	probably damaging	Het
Utp25	A	T	1: 192,800,701 (GRCm39)	F373Y	probably damaging	Het
Vmn1r67	T	C	7: 10,180,949 (GRCm39)	I10T	probably benign	Het
Vmn2r116	T	C	17: 23,606,054 (GRCm39)	F322S	probably damaging	Het
Wdr19	A	G	5: 65,360,300 (GRCm39)	D35G	probably benign	Het
Zfp365	A	T	10: 67,724,870 (GRCm39)	H339Q	probably damaging	Het
Zfp677	A	T	17: 21,617,648 (GRCm39)	H235L	probably damaging	Het
Zpbp2	G	A	11: 98,442,097 (GRCm39)		probably benign	Het

Other mutations in Or9k2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Or9k2b	APN	10	130,016,083 (GRCm39)	missense	probably benign	0.06
R0627:Or9k2b	UTSW	10	130,016,557 (GRCm39)	missense	probably damaging	1.00
R1672:Or9k2b	UTSW	10	130,016,261 (GRCm39)	missense	probably benign	0.00
R1834:Or9k2b	UTSW	10	130,016,701 (GRCm39)	missense	probably benign	0.01
R1957:Or9k2b	UTSW	10	130,015,847 (GRCm39)	missense	possibly damaging	0.77
R3717:Or9k2b	UTSW	10	130,016,369 (GRCm39)	missense	possibly damaging	0.63
R5106:Or9k2b	UTSW	10	130,016,177 (GRCm39)	missense	probably benign	0.37
R6348:Or9k2b	UTSW	10	130,016,166 (GRCm39)	missense	probably benign	0.12
R6971:Or9k2b	UTSW	10	130,016,638 (GRCm39)	missense	possibly damaging	0.95
R7181:Or9k2b	UTSW	10	130,016,626 (GRCm39)	missense	possibly damaging	0.78
R7394:Or9k2b	UTSW	10	130,016,123 (GRCm39)	missense	probably damaging	1.00
R8372:Or9k2b	UTSW	10	130,016,656 (GRCm39)	missense	probably damaging	0.99
R8429:Or9k2b	UTSW	10	130,016,092 (GRCm39)	missense	possibly damaging	0.87
R8679:Or9k2b	UTSW	10	130,016,702 (GRCm39)	missense	probably benign	0.01
R8746:Or9k2b	UTSW	10	130,016,086 (GRCm39)	missense	probably damaging	1.00
R9043:Or9k2b	UTSW	10	130,016,154 (GRCm39)	missense	probably benign	0.00
R9204:Or9k2b	UTSW	10	130,016,566 (GRCm39)	missense	probably damaging	1.00
R9254:Or9k2b	UTSW	10	130,016,605 (GRCm39)	missense	possibly damaging	0.85
R9379:Or9k2b	UTSW	10	130,016,605 (GRCm39)	missense	possibly damaging	0.85
R9568:Or9k2b	UTSW	10	130,015,814 (GRCm39)	missense	probably benign
Z1176:Or9k2b	UTSW	10	130,015,834 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- TGCAAGTGGAGAAGGCTTTC -3'
(R):5'- CATCTCATTTGCAGGCTGTG -3'

Sequencing Primer
(F):5'- CTCCACGGATCGTATCTTTAGAACAG -3'
(R):5'- CTGTGTGGCTCAGCTTTTTC -3'

Posted On

2016-12-20