Mutagenetix > Incidental Mutation

Incidental Mutation 'R6971:Or9k2b'

542259

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

045081-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6971 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130015806-130016747 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130016638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 37 (V37E)

Ref Sequence

ENSEMBL: ENSMUSP00000149119 (fasta)

Gene Model

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

AlphaFold

Q8VFU6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078322
AA Change: V37E

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077436
Gene: ENSMUSG00000059862
AA Change: V37E

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

possibly damaging
Transcript: ENSMUST00000203720
AA Change: V37E

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144755
Gene: ENSMUSG00000059862
AA Change: V37E

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

possibly damaging
Transcript: ENSMUST00000216661
AA Change: V37E

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

96% (47/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,000,903 (GRCm39)	T32S	possibly damaging	Het
2210408I21Rik	A	G	13: 77,341,306 (GRCm39)	S52G	possibly damaging	Het
Aadacl4	G	A	4: 144,349,303 (GRCm39)	V187M	probably damaging	Het
Adprhl1	T	A	8: 13,273,476 (GRCm39)	Q1094L	probably benign	Het
Amigo1	C	T	3: 108,095,452 (GRCm39)	S317L	probably benign	Het
Brca1	A	G	11: 101,424,831 (GRCm39)	F32L	probably benign	Het
C1qtnf7	T	A	5: 43,766,392 (GRCm39)		probably null	Het
Ccdc88c	A	T	12: 100,920,486 (GRCm39)	D378E	probably damaging	Het
Ccdc97	G	T	7: 25,414,384 (GRCm39)	Y123*	probably null	Het
Cdk10	T	A	8: 123,954,413 (GRCm39)	M46K	probably damaging	Het
Dsc3	A	G	18: 20,099,275 (GRCm39)		probably null	Het
Ephx3	T	A	17: 32,407,177 (GRCm39)	N254Y	possibly damaging	Het
Fnip2	G	A	3: 79,388,428 (GRCm39)	R768*	probably null	Het
Glra1	A	T	11: 55,427,325 (GRCm39)	Y3*	probably null	Het
Gltpd2	A	G	11: 70,411,290 (GRCm39)	T194A	probably damaging	Het
Hectd1	A	T	12: 51,795,526 (GRCm39)	L2301*	probably null	Het
Hmcn1	T	A	1: 150,868,802 (GRCm39)	M1L	probably benign	Het
Hmcn2	G	A	2: 31,322,333 (GRCm39)	E4133K	probably benign	Het
Hps3	A	T	3: 20,065,699 (GRCm39)	L714I	probably damaging	Het
Igfbpl1	A	G	4: 45,816,333 (GRCm39)	V164A	possibly damaging	Het
Ip6k2	T	C	9: 108,674,510 (GRCm39)		probably benign	Het
Itgb8	A	T	12: 119,154,366 (GRCm39)	Y224N	probably damaging	Het
Kcnt2	T	C	1: 140,440,646 (GRCm39)	L624S	probably benign	Het
Mdga2	A	G	12: 66,597,335 (GRCm39)	Y720H	probably damaging	Het
Mier2	G	A	10: 79,378,263 (GRCm39)	H385Y	possibly damaging	Het
Msl2	T	C	9: 100,978,042 (GRCm39)	F139L	probably benign	Het
Nuggc	T	C	14: 65,846,305 (GRCm39)	V72A	probably benign	Het
Pde2a	T	A	7: 101,159,520 (GRCm39)	Y783*	probably null	Het
Pfkfb2	A	G	1: 130,628,533 (GRCm39)	Y358H	probably damaging	Het
Pou2f1	A	G	1: 165,759,258 (GRCm39)	S23P	probably damaging	Het
Prrc2a	T	C	17: 35,378,477 (GRCm39)		probably null	Het
Prss36	T	C	7: 127,544,410 (GRCm39)	T92A	probably benign	Het
Rnft2	A	G	5: 118,332,635 (GRCm39)		probably benign	Het
Sbno2	A	G	10: 79,895,868 (GRCm39)	V971A	possibly damaging	Het
Sec63	A	G	10: 42,659,438 (GRCm39)	E42G	probably damaging	Het
Setdb2	A	T	14: 59,653,189 (GRCm39)	L371Q	probably damaging	Het
Shprh	A	T	10: 11,042,437 (GRCm39)	I807F	probably damaging	Het
Slc3a2	T	C	19: 8,686,974 (GRCm39)		probably null	Het
Srbd1	T	C	17: 86,406,718 (GRCm39)	I556V	possibly damaging	Het
Stim2	T	A	5: 54,275,641 (GRCm39)	C605*	probably null	Het
Tecrl	T	C	5: 83,502,649 (GRCm39)	T67A	possibly damaging	Het
Ttc33	C	A	15: 5,241,523 (GRCm39)	A116E	probably damaging	Het
Ttn	G	A	2: 76,772,393 (GRCm39)	T2503I	possibly damaging	Het
Ubp1	T	C	9: 113,801,831 (GRCm39)	I468T	probably damaging	Het
Urgcp	A	T	11: 5,668,115 (GRCm39)	H74Q	probably benign	Het
Vcan	A	G	13: 89,826,252 (GRCm39)	I2224T	probably damaging	Het
Vmn1r8	T	A	6: 57,013,400 (GRCm39)	N150K	probably damaging	Het
Vmn2r3	A	G	3: 64,166,668 (GRCm39)	M821T	probably damaging	Het
Zfp777	C	A	6: 48,001,625 (GRCm39)	A866S	probably damaging	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
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'- CTTCAGCCACAATGAACAGTG -3'
(R):5'- TGTAGACCCTTGTACTGTATCAAC -3'

Sequencing Primer
(F):5'- CCTGCAAATGAGATGGACTTGCTC -3'
(R):5'- ATGCTTCTCATCAGGTCTC -3'

Posted On

2018-11-28