Mutagenetix > Incidental Mutation

Incidental Mutation 'R9379:Or9k2b'

709877

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 #

R9379 (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 G at 130016605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 48 (M48T)

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: M48T

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077436
Gene: ENSMUSG00000059862
AA Change: M48T

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: M48T

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144755
Gene: ENSMUSG00000059862
AA Change: M48T

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: M48T

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,451,201 (GRCm39)	I136F	possibly damaging	Het
1700019D03Rik	T	A	1: 52,964,635 (GRCm39)	D31V	probably benign	Het
Abca14	G	T	7: 119,807,202 (GRCm39)	E83*	probably null	Het
Abcc5	T	C	16: 20,152,437 (GRCm39)	T1370A	probably damaging	Het
Ankhd1	T	C	18: 36,777,680 (GRCm39)	V1621A	probably benign	Het
Ano8	T	A	8: 71,936,178 (GRCm39)	Q206L	probably benign	Het
Aox3	A	T	1: 58,208,959 (GRCm39)	I831F	possibly damaging	Het
Atp2a2	T	C	5: 122,611,315 (GRCm39)	I168V	probably benign	Het
Atxn2	G	A	5: 121,885,509 (GRCm39)	V239I	probably damaging	Het
B230219D22Rik	C	A	13: 55,847,283 (GRCm39)	A132E	probably damaging	Het
Btbd17	C	A	11: 114,682,749 (GRCm39)	W321L	possibly damaging	Het
Cacna1i	T	A	15: 80,259,495 (GRCm39)	V1255E	probably damaging	Het
Camsap1	T	C	2: 25,846,318 (GRCm39)	I132V		Het
Chd7	A	G	4: 8,752,210 (GRCm39)	S236G	unknown	Het
Clasp1	CCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTGCTG	1: 118,509,157 (GRCm39)		probably benign	Het
Clasp1	TGC	TGCCGC	1: 118,509,168 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,249,838 (GRCm39)	H1658L	unknown	Het
D630044L22Rik	A	G	17: 26,180,856 (GRCm39)	H102R	possibly damaging	Het
Dact3	G	A	7: 16,620,013 (GRCm39)	V503I	unknown	Het
Dcn	G	T	10: 97,343,643 (GRCm39)	R201L	probably damaging	Het
Dmxl1	T	C	18: 50,024,567 (GRCm39)	V1747A	possibly damaging	Het
Dnajc14	T	A	10: 128,652,743 (GRCm39)		probably null	Het
Dspp	A	T	5: 104,322,760 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,532,760 (GRCm39)	V1666A	unknown	Het
Flvcr2	A	G	12: 85,850,000 (GRCm39)	I429V	probably benign	Het
Gpr158	A	G	2: 21,373,042 (GRCm39)		probably benign	Het
Grip1	G	T	10: 119,780,961 (GRCm39)	L203F	probably damaging	Het
Hoga1	T	C	19: 42,051,697 (GRCm39)	L250P	probably damaging	Het
Htr2b	A	G	1: 86,027,844 (GRCm39)	S221P	probably damaging	Het
Ighv1-24	T	C	12: 114,736,663 (GRCm39)	Y79C	possibly damaging	Het
Katnip	T	C	7: 125,469,848 (GRCm39)	L1439P	probably damaging	Het
Kcnq1	A	G	7: 142,745,169 (GRCm39)	T311A	probably damaging	Het
Kif21a	C	T	15: 90,854,030 (GRCm39)	R779Q	probably damaging	Het
Lilra6	T	C	7: 3,916,166 (GRCm39)	E231G	probably damaging	Het
Lrrc8c	T	A	5: 105,756,356 (GRCm39)	Y710*	probably null	Het
Mixl1	A	G	1: 180,522,258 (GRCm39)	S208P	probably benign	Het
Muc16	T	A	9: 18,557,467 (GRCm39)	Q2942L	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup85	T	C	11: 115,469,424 (GRCm39)	I322T	probably benign	Het
Odad1	A	G	7: 45,597,116 (GRCm39)	T456A	probably benign	Het
Odad2	T	C	18: 7,265,089 (GRCm39)	D426G	possibly damaging	Het
Or10n7-ps1	A	G	9: 39,598,114 (GRCm39)	L42P	probably damaging	Het
Or7e169	T	A	9: 19,757,212 (GRCm39)	K234N	possibly damaging	Het
Or8b4	C	T	9: 37,830,447 (GRCm39)	L165F	probably damaging	Het
Osbpl9	A	T	4: 108,940,399 (GRCm39)	H178Q	probably damaging	Het
Parp14	A	G	16: 35,680,853 (GRCm39)	V260A	probably benign	Het
Plxna2	C	T	1: 194,492,474 (GRCm39)	T1777I	probably damaging	Het
Ppp3cb	T	C	14: 20,581,874 (GRCm39)	D47G	probably benign	Het
Pram1	T	C	17: 33,860,441 (GRCm39)	V336A	probably damaging	Het
Prl	T	A	13: 27,243,503 (GRCm39)	I58N	probably damaging	Het
Qrich2	T	C	11: 116,348,934 (GRCm39)	D630G	unknown	Het
Ralgapa1	G	C	12: 55,769,583 (GRCm39)	P803A	probably damaging	Het
Rtcb	A	T	10: 85,779,071 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,898,002 (GRCm39)	C131Y	probably damaging	Het
Spata7	A	G	12: 98,600,548 (GRCm39)	I54V	probably benign	Het
St6galnac3	A	G	3: 153,215,070 (GRCm39)	V28A	probably benign	Het
Stra6l	A	T	4: 45,849,093 (GRCm39)	T6S	probably benign	Het
Taf4b	C	T	18: 14,946,431 (GRCm39)	T418M	probably damaging	Het
Taf6	A	G	5: 138,181,952 (GRCm39)	I92T	possibly damaging	Het
Tcaf2	C	T	6: 42,619,517 (GRCm39)	S170N	probably benign	Het
Tfrc	A	G	16: 32,443,819 (GRCm39)	D541G	probably damaging	Het
Trav13n-3	T	G	14: 53,574,853 (GRCm39)	L32V	probably damaging	Het
Trpa1	T	C	1: 14,966,739 (GRCm39)	T542A	possibly damaging	Het
Ttc39b	A	T	4: 83,189,376 (GRCm39)	S53T	probably benign	Het
Tut7	T	C	13: 59,936,288 (GRCm39)	Y1271C	possibly damaging	Het
Ubap2	A	T	4: 41,216,630 (GRCm39)	S268T	possibly damaging	Het
Usp40	A	G	1: 87,881,889 (GRCm39)	V998A	probably benign	Het
Usp44	T	A	10: 93,688,635 (GRCm39)	I562K	possibly damaging	Het
Vmn2r106	T	C	17: 20,496,066 (GRCm39)	T553A	probably damaging	Het
Vmn2r65	A	G	7: 84,596,650 (GRCm39)	V135A	probably damaging	Het
Wbp2nl	T	A	15: 82,198,311 (GRCm39)	S283T	possibly damaging	Het
Wnk1	G	A	6: 119,928,678 (GRCm39)	T1092I	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
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
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'- TCAGCCACAATGAACAGTGC -3'
(R):5'- TTGTAGACCCTTGTACTGTATCAAC -3'

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

Posted On

2022-04-18