Mutagenetix > Incidental Mutation

Incidental Mutation 'R8519:Or6k2'

658504

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

067946-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R8519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173986288-173987333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 173986614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 92 (I92V)

Ref Sequence

ENSEMBL: ENSMUSP00000149052 (fasta)

Gene Model

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

AlphaFold

E9Q4G0

Predicted Effect

probably damaging
Transcript: ENSMUST00000068403
AA Change: I92V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069662
Gene: ENSMUSG00000055033
AA Change: I92V

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

probably damaging
Transcript: ENSMUST00000213748
AA Change: I92V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	C	10: 61,038,619 (GRCm39)	T964A	possibly damaging	Het
Adamts7	G	A	9: 90,075,610 (GRCm39)	W1156*	probably null	Het
Adcy9	T	C	16: 4,105,992 (GRCm39)	I1041V	possibly damaging	Het
Armh4	T	C	14: 50,010,693 (GRCm39)	D338G	probably damaging	Het
Art4	C	A	6: 136,831,349 (GRCm39)		probably null	Het
Bcl9	A	G	3: 97,116,334 (GRCm39)	S787P	probably benign	Het
Bptf	T	C	11: 106,952,590 (GRCm39)	T2088A	probably damaging	Het
Cdc45	T	C	16: 18,627,597 (GRCm39)	N76S	probably damaging	Het
Cdon	A	G	9: 35,389,950 (GRCm39)	D868G	probably damaging	Het
Cldn10	T	G	14: 119,092,439 (GRCm39)	V13G	probably benign	Het
Cnot6	G	T	11: 49,575,941 (GRCm39)	Q178K	probably benign	Het
Crot	T	C	5: 9,023,629 (GRCm39)	I420V	probably benign	Het
Csgalnact1	T	A	8: 68,854,105 (GRCm39)	H232L	possibly damaging	Het
Cuzd1	T	C	7: 130,910,626 (GRCm39)	I556M	possibly damaging	Het
Cyp2c54	G	A	19: 40,026,857 (GRCm39)	R433W	probably damaging	Het
Cyp2j11	A	G	4: 96,207,539 (GRCm39)	F259L	probably benign	Het
Dhx9	C	T	1: 153,348,922 (GRCm39)	G264R	probably damaging	Het
Dnah5	G	A	15: 28,299,245 (GRCm39)	V1536M	probably benign	Het
Erlin1	T	A	19: 44,058,041 (GRCm39)		probably benign	Het
Foxb2	C	A	19: 16,850,347 (GRCm39)	V220L	possibly damaging	Het
Gigyf2	A	T	1: 87,338,431 (GRCm39)	T388S	probably benign	Het
Gimap5	T	C	6: 48,730,068 (GRCm39)	C213R	probably benign	Het
Gkap1	T	G	13: 58,386,506 (GRCm39)	K57N	probably damaging	Het
H60b	T	G	10: 22,159,421 (GRCm39)		probably benign	Het
Hectd4	C	T	5: 121,442,489 (GRCm39)	R670*	probably null	Het
Hoxc9	A	G	15: 102,892,341 (GRCm39)	N185D	probably damaging	Het
Igkv1-117	A	G	6: 68,098,766 (GRCm39)	E105G	possibly damaging	Het
Klk10	T	A	7: 43,432,239 (GRCm39)	Y57*	probably null	Het
Lrrc63	A	T	14: 75,363,312 (GRCm39)	I273K	possibly damaging	Het
M6pr	T	C	6: 122,292,025 (GRCm39)	I119T	probably damaging	Het
Mael	T	C	1: 166,063,127 (GRCm39)		probably null	Het
Magi1	A	G	6: 93,681,330 (GRCm39)	S574P	possibly damaging	Het
Man2c1	A	G	9: 57,044,061 (GRCm39)	D291G	probably benign	Het
Mapk1ip1l	A	T	14: 47,547,920 (GRCm39)		probably benign	Het
Mrc2	A	G	11: 105,238,132 (GRCm39)	T1135A	possibly damaging	Het
Mrpl39	A	G	16: 84,527,736 (GRCm39)	V164A	probably benign	Het
Mynn	C	A	3: 30,661,290 (GRCm39)	P124H	probably damaging	Het
Or11l3	T	G	11: 58,516,800 (GRCm39)	Q23P	probably damaging	Het
Or14n1-ps1	A	T	7: 86,093,062 (GRCm39)	N291I	probably damaging	Het
Or2k2	A	G	4: 58,785,203 (GRCm39)	I173T	probably damaging	Het
Or2t48	A	G	11: 58,420,329 (GRCm39)	F161S	possibly damaging	Het
Pcif1	A	G	2: 164,726,303 (GRCm39)	N68S	probably damaging	Het
Pcm1	T	A	8: 41,728,976 (GRCm39)	N649K	probably damaging	Het
Pira1	T	C	7: 3,740,432 (GRCm39)	Q263R	probably benign	Het
Plxna2	T	A	1: 194,476,266 (GRCm39)	I1162N	probably damaging	Het
Pnp2	T	A	14: 51,201,842 (GRCm39)	L276Q	probably damaging	Het
Sirpb1c	T	A	3: 15,902,526 (GRCm39)	I18F	possibly damaging	Het
Slc2a12	A	T	10: 22,540,678 (GRCm39)	M178L	probably damaging	Het
Slc35c1	G	T	2: 92,285,052 (GRCm39)	F187L	probably benign	Het
Smg1	T	C	7: 117,770,982 (GRCm39)		probably benign	Het
Spmip6	A	G	4: 41,505,071 (GRCm39)	S214P	possibly damaging	Het
Spopfm2	T	C	3: 94,083,497 (GRCm39)	M105V	probably benign	Het
Stn1	T	C	19: 47,490,111 (GRCm39)	H342R	probably benign	Het
Sult1c2	A	T	17: 54,276,709 (GRCm39)	H117Q	probably damaging	Het
Thap1	G	A	8: 26,650,925 (GRCm39)	R42K	probably damaging	Het
Tpp2	A	T	1: 44,016,365 (GRCm39)		probably null	Het
Trib2	G	T	12: 15,865,347 (GRCm39)	P76Q	probably damaging	Het
Ttc24	G	T	3: 87,980,369 (GRCm39)	Q111K	probably damaging	Het
Ubr4	T	C	4: 139,143,958 (GRCm39)	S1401P	probably damaging	Het
Uggt1	A	C	1: 36,215,724 (GRCm39)		probably null	Het
Ugt2b1	A	G	5: 87,074,326 (GRCm39)	L11S	probably damaging	Het
Uso1	T	G	5: 92,343,222 (GRCm39)	S769A	probably benign	Het
Vmn2r117	T	C	17: 23,698,442 (GRCm39)	T44A	probably benign	Het
Vmn2r28	T	A	7: 5,489,347 (GRCm39)	L497F	probably benign	Het
Vsig10l	G	A	7: 43,114,326 (GRCm39)	S318N	probably benign	Het
Wbp4	A	G	14: 79,714,263 (GRCm39)	L83P	probably damaging	Het
Wnk1	G	A	6: 119,927,044 (GRCm39)	R1510W	probably damaging	Het
Zc3hav1l	C	T	6: 38,272,176 (GRCm39)	V198M	probably damaging	Het
Zfp1004	A	G	2: 150,034,700 (GRCm39)	I340M	probably benign	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
R1508:Or6k2	UTSW	1	173,986,930 (GRCm39)	missense	possibly damaging	0.55
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
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'- GGGGAGATTCTGTCATCTGC -3'
(R):5'- TGTGAGAAAGCCACAGACAC -3'

Sequencing Primer
(F):5'- GGGAGATTCTGTCATCTGCTTCATC -3'
(R):5'- GACACAGCAACCGAGGGTC -3'

Posted On

2021-01-18