Mutagenetix > Incidental Mutation

Incidental Mutation 'R9204:Or9k2b'

698394

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

Accession Numbers

Essential gene?

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

Stock #

R9204 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130015806-130016747 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 130016566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 61 (P61R)

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: P61R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077436
Gene: ENSMUSG00000059862
AA Change: P61R

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: P61R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144755
Gene: ENSMUSG00000059862
AA Change: P61R

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: P61R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,996,566 (GRCm39)	V389A	possibly damaging	Het
Adgrl1	T	C	8: 84,660,519 (GRCm39)	F792S	probably benign	Het
Angptl2	A	T	2: 33,118,342 (GRCm39)	I39F	probably benign	Het
Aprt	A	G	8: 123,303,355 (GRCm39)	I29T	probably damaging	Het
Arhgap21	A	T	2: 20,885,816 (GRCm39)	S464T	probably damaging	Het
Atic	T	C	1: 71,603,636 (GRCm39)	Y151H	probably damaging	Het
BB014433	T	C	8: 15,092,623 (GRCm39)	T77A	unknown	Het
Boc	C	A	16: 44,308,077 (GRCm39)	C926F		Het
Brd10	A	G	19: 29,696,938 (GRCm39)	S852P	possibly damaging	Het
Cabin1	C	T	10: 75,530,550 (GRCm39)	R1544Q	probably benign	Het
Ccdc33	A	G	9: 57,938,388 (GRCm39)	V861A	probably benign	Het
Ccdc88c	T	C	12: 100,904,322 (GRCm39)	T230A	unknown	Het
Cdc42bpa	T	A	1: 179,939,460 (GRCm39)		probably null	Het
Chrnb2	T	C	3: 89,668,128 (GRCm39)	M396V	probably benign	Het
Chst2	A	G	9: 95,287,155 (GRCm39)	V397A	probably damaging	Het
Cit	T	A	5: 116,126,498 (GRCm39)	N1643K	probably damaging	Het
Ckb	T	A	12: 111,637,869 (GRCm39)	D113V	probably benign	Het
Cyp2c68	A	T	19: 39,727,571 (GRCm39)	M136K	probably damaging	Het
Epas1	G	T	17: 87,116,873 (GRCm39)	R181L	probably damaging	Het
Flnc	A	C	6: 29,452,353 (GRCm39)	I1726L	possibly damaging	Het
Fras1	G	A	5: 96,883,022 (GRCm39)	R2518H	probably damaging	Het
Gid4	T	C	11: 60,308,654 (GRCm39)	V58A	probably benign	Het
Hmcn1	T	A	1: 150,610,262 (GRCm39)	N1469I	probably benign	Het
Hmcn2	A	G	2: 31,278,377 (GRCm39)	E1693G	probably damaging	Het
Irx4	C	G	13: 73,416,649 (GRCm39)	C348W	probably damaging	Het
Lrig2	A	G	3: 104,387,438 (GRCm39)	S410P	possibly damaging	Het
Lsm11	A	G	11: 45,824,789 (GRCm39)	V246A	probably benign	Het
Ltbp1	G	T	17: 75,670,425 (GRCm39)	V1489F	probably damaging	Het
Mc2r	T	C	18: 68,540,667 (GRCm39)	T209A	probably benign	Het
Mms22l	T	C	4: 24,581,153 (GRCm39)	L821P	probably damaging	Het
Mtus2	A	T	5: 148,238,293 (GRCm39)	E1206V	probably damaging	Het
Muc5b	T	A	7: 141,410,129 (GRCm39)	H1234Q	unknown	Het
Naip5	A	T	13: 100,359,008 (GRCm39)	F743I	probably damaging	Het
Nphp3	G	A	9: 103,919,305 (GRCm39)	V1318I	probably benign	Het
Or4c10b	T	G	2: 89,711,482 (GRCm39)	L104W	probably damaging	Het
Or52a24	A	G	7: 103,382,056 (GRCm39)	K308E	possibly damaging	Het
Or5p60	A	T	7: 107,723,935 (GRCm39)	N178K	possibly damaging	Het
Or7g26	T	C	9: 19,229,995 (GRCm39)	L61P	probably damaging	Het
Or8b4	C	A	9: 37,830,670 (GRCm39)	T239K	probably damaging	Het
Paqr5	G	A	9: 61,868,826 (GRCm39)	R246C	probably benign	Het
Pdgfb	T	C	15: 79,885,956 (GRCm39)	Q128R	probably damaging	Het
Prr3	T	A	17: 36,285,619 (GRCm39)	I88F	possibly damaging	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
R3hcc1l	G	A	19: 42,552,301 (GRCm39)	D433N	probably benign	Het
Scnn1b	A	T	7: 121,498,522 (GRCm39)	T21S	probably benign	Het
Smcr8	A	G	11: 60,668,857 (GRCm39)	I2V	probably damaging	Het
Stk33	T	C	7: 108,940,686 (GRCm39)	D8G	probably benign	Het
Tbc1d22a	T	C	15: 86,098,803 (GRCm39)	F10L	probably benign	Het
Tmem126a	T	A	7: 90,102,026 (GRCm39)	I58F	possibly damaging	Het
Ttf2	T	C	3: 100,869,880 (GRCm39)	K398E	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Usp53	G	T	3: 122,741,068 (GRCm39)	N727K	probably benign	Het
Vmn2r25	T	G	6: 123,830,092 (GRCm39)	I20L	probably benign	Het
Zfp747l1	T	A	7: 126,984,332 (GRCm39)	I257L	unknown	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
R5837:Or9k2b	UTSW	10	130,016,266 (GRCm39)	missense	probably damaging	1.00
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
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'- GCAATGAAACGGTCATAAGCC -3'
(R):5'- CTCATCAGGTCTCTTCCATGGG -3'

Sequencing Primer
(F):5'- ACGGTCATAAGCCATGGC -3'
(R):5'- TCTCTTCCATGGGCGACAG -3'

Posted On

2022-02-07