Mutagenetix > Incidental Mutation

Incidental Mutation 'R1508:Or6k2'

168042

Institutional Source

Beutler Lab

Gene Symbol

Or6k2

Ensembl Gene

ENSMUSG00000055033

Gene Name

olfactory receptor family 6 subfamily K member 2

Synonyms

GA_x6K02T2P20D-20995211-20994246, MOR105-10, Olfr420

MMRRC Submission

040869-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R1508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

173986288-173987333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 173986930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 197 (M197K)

Ref Sequence

ENSEMBL: ENSMUSP00000149052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068403] [ENSMUST00000213748]

AlphaFold

E9Q4G0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068403
AA Change: M197K

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000069662
Gene: ENSMUSG00000055033
AA Change: M197K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	310	9.9e-60	PFAM
Pfam:7tm_1	41	292	4.1e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213748
AA Change: M197K

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.2587

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	T	C	4: 111,513,595 (GRCm39)	I447T	probably benign	Het
Albfm1	A	G	5: 90,729,780 (GRCm39)	E401G	probably benign	Het
Alpk2	C	A	18: 65,482,376 (GRCm39)	G544V	probably damaging	Het
Apob	T	C	12: 8,061,481 (GRCm39)	I3321T	possibly damaging	Het
Ccdc47	C	T	11: 106,093,242 (GRCm39)	D70N	probably damaging	Het
Ceacam13	T	A	7: 17,744,996 (GRCm39)	V22D	possibly damaging	Het
Cep76	A	G	18: 67,756,358 (GRCm39)	M491T	probably damaging	Het
Clec4a3	A	T	6: 122,944,467 (GRCm39)	N171I	probably benign	Het
Col20a1	A	G	2: 180,634,370 (GRCm39)	I112V	probably damaging	Het
Col4a4	A	T	1: 82,433,557 (GRCm39)	L1462H	unknown	Het
Cubn	A	G	2: 13,431,916 (GRCm39)	F1226L	probably benign	Het
Cyp4a31	T	A	4: 115,422,250 (GRCm39)	I77K	possibly damaging	Het
Dcaf1	A	T	9: 106,731,376 (GRCm39)	T618S	probably damaging	Het
Echdc3	A	T	2: 6,211,231 (GRCm39)	S129T	probably benign	Het
Efcab3	T	C	11: 104,601,503 (GRCm39)	V272A	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fat1	T	C	8: 45,479,899 (GRCm39)	F2982L	probably benign	Het
Gm9476	A	T	10: 100,142,700 (GRCm39)		noncoding transcript	Het
Golga1	A	G	2: 38,913,261 (GRCm39)	M542T	probably benign	Het
H2-D1	T	A	17: 35,482,844 (GRCm39)	C125S	probably damaging	Het
Jazf1	G	A	6: 52,789,166 (GRCm39)	H103Y	probably damaging	Het
Klhl12	T	C	1: 134,416,712 (GRCm39)	V478A	possibly damaging	Het
Lpcat2b	A	T	5: 107,581,330 (GRCm39)	T220S	probably damaging	Het
Myocd	C	T	11: 65,075,342 (GRCm39)	C594Y	probably damaging	Het
Nf1	A	G	11: 79,331,735 (GRCm39)	E700G	probably damaging	Het
Or52z15	T	C	7: 103,332,678 (GRCm39)	V251A	possibly damaging	Het
Papln	A	G	12: 83,829,690 (GRCm39)	Q937R	probably damaging	Het
Pex14	T	C	4: 149,052,029 (GRCm39)	R147G	probably damaging	Het
Plppr3	A	T	10: 79,703,374 (GRCm39)	Y37N	probably damaging	Het
Polr1b	A	G	2: 128,955,654 (GRCm39)	T522A	probably benign	Het
Ppp3cb	T	C	14: 20,574,492 (GRCm39)	N201S	probably damaging	Het
Prf1	A	G	10: 61,139,329 (GRCm39)	D429G	probably damaging	Het
Ptprn2	T	C	12: 117,148,342 (GRCm39)	S701P	probably damaging	Het
Rp1l1	C	T	14: 64,268,341 (GRCm39)	T1309I	possibly damaging	Het
Sipa1l1	T	A	12: 82,487,667 (GRCm39)	M1647K	probably damaging	Het
Skint11	T	C	4: 114,088,963 (GRCm39)		probably null	Het
Slc8a2	T	C	7: 15,874,522 (GRCm39)	Y257H	probably benign	Het
Slfn1	T	A	11: 83,012,181 (GRCm39)	I99N	probably damaging	Het
Slit2	A	G	5: 48,349,591 (GRCm39)	T282A	probably damaging	Het
Slit3	A	T	11: 35,461,448 (GRCm39)	D228V	probably damaging	Het
Specc1l	A	G	10: 75,143,072 (GRCm39)	N1031S	probably benign	Het
Supt6	A	G	11: 78,107,029 (GRCm39)		probably null	Het
Tdrd1	G	A	19: 56,839,790 (GRCm39)	E617K	probably damaging	Het
Tex15	C	G	8: 34,066,880 (GRCm39)	F2103L	probably damaging	Het
Trim21	T	A	7: 102,208,783 (GRCm39)	Q312L	possibly damaging	Het
Trim56	C	T	5: 137,142,791 (GRCm39)	A242T	probably benign	Het
Usp4	T	C	9: 108,249,873 (GRCm39)	V467A	probably benign	Het
Vmn2r65	T	A	7: 84,589,886 (GRCm39)	I677L	probably benign	Het
Vstm4	T	C	14: 32,585,511 (GRCm39)	V26A	probably damaging	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het
Zfat	T	A	15: 68,050,600 (GRCm39)	K807I	probably damaging	Het

Other mutations in Or6k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Or6k2	APN	1	173,986,423 (GRCm39)	missense	probably damaging	1.00
IGL02479:Or6k2	APN	1	173,986,520 (GRCm39)	nonsense	probably null
IGL03190:Or6k2	APN	1	173,987,110 (GRCm39)	missense	probably damaging	0.99
IGL03270:Or6k2	APN	1	173,987,119 (GRCm39)	missense	probably benign	0.04
R0645:Or6k2	UTSW	1	173,986,920 (GRCm39)	missense	probably benign	0.00
R0834:Or6k2	UTSW	1	173,986,930 (GRCm39)	missense	possibly damaging	0.55
R1432:Or6k2	UTSW	1	173,986,483 (GRCm39)	missense	possibly damaging	0.67
R2351:Or6k2	UTSW	1	173,986,486 (GRCm39)	missense	probably damaging	0.99
R3440:Or6k2	UTSW	1	173,986,746 (GRCm39)	missense	probably benign	0.14
R3441:Or6k2	UTSW	1	173,986,746 (GRCm39)	missense	probably benign	0.14
R4571:Or6k2	UTSW	1	173,986,494 (GRCm39)	missense	possibly damaging	0.77
R5072:Or6k2	UTSW	1	173,986,527 (GRCm39)	missense	probably damaging	1.00
R6060:Or6k2	UTSW	1	173,986,907 (GRCm39)	nonsense	probably null
R6166:Or6k2	UTSW	1	173,986,659 (GRCm39)	missense	probably benign	0.43
R6228:Or6k2	UTSW	1	173,979,712 (GRCm39)	missense	probably benign	0.00
R6272:Or6k2	UTSW	1	173,986,741 (GRCm39)	missense	probably benign	0.02
R6298:Or6k2	UTSW	1	173,979,748 (GRCm39)	missense	probably benign	0.02
R6400:Or6k2	UTSW	1	173,986,830 (GRCm39)	missense	probably damaging	0.99
R7581:Or6k2	UTSW	1	173,986,337 (GRCm39)	splice site	probably null
R7677:Or6k2	UTSW	1	173,986,614 (GRCm39)	missense	probably damaging	1.00
R7823:Or6k2	UTSW	1	173,987,254 (GRCm39)	missense	probably benign	0.12
R7829:Or6k2	UTSW	1	173,986,425 (GRCm39)	missense	probably benign	0.00
R8077:Or6k2	UTSW	1	173,979,411 (GRCm39)	unclassified	probably benign
R8519:Or6k2	UTSW	1	173,986,614 (GRCm39)	missense	probably damaging	0.99
R9106:Or6k2	UTSW	1	173,986,369 (GRCm39)	missense	probably benign	0.00
R9205:Or6k2	UTSW	1	173,986,456 (GRCm39)	missense	probably benign	0.33
R9507:Or6k2	UTSW	1	173,986,552 (GRCm39)	missense	possibly damaging	0.94
R9797:Or6k2	UTSW	1	173,986,417 (GRCm39)	missense	probably benign
Z1187:Or6k2	UTSW	1	173,986,907 (GRCm39)	nonsense	probably null
Z1192:Or6k2	UTSW	1	173,986,907 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCATGACTTCCAGACTGTGTGCCC -3'
(R):5'- GCAATGGCAGTGTCCCAGAACAAG -3'

Sequencing Primer
(F):5'- TGGCTCTAATCACCTTGAGC -3'
(R):5'- CAGTGTCCCAGAACAAGGAGTAG -3'

Posted On

2014-04-13