Mutagenetix > Incidental Mutation

Incidental Mutation 'R5668:Or2k2'

442421

Institutional Source

Beutler Lab

Gene Symbol

Or2k2

Ensembl Gene

ENSMUSG00000043385

Gene Name

olfactory receptor family 2 subfamily K member 2

Synonyms

MOR262-1, GA_x6K02T2N78B-1272842-1273783, Olfr267

MMRRC Submission

043311-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R5668 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58784779-58785720 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58785489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 78 (I78F)

Ref Sequence

ENSEMBL: ENSMUSP00000150848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059608] [ENSMUST00000216719]

AlphaFold

A2AM35

Predicted Effect

probably benign
Transcript: ENSMUST00000059608
AA Change: I78F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000062002
Gene: ENSMUSG00000043385
AA Change: I78F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	4e-51	PFAM
Pfam:7tm_1	41	289	5.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216719
AA Change: I78F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (84/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,603,975 (GRCm39)	W429R	probably damaging	Het
Afg1l	C	T	10: 42,236,236 (GRCm39)	C272Y	probably damaging	Het
Agrn	T	C	4: 156,251,770 (GRCm39)	T1831A	probably damaging	Het
Aifm2	T	C	10: 61,561,696 (GRCm39)	V14A	probably damaging	Het
Angptl3	A	T	4: 98,920,321 (GRCm39)		probably null	Het
Arfgap1	A	T	2: 180,615,912 (GRCm39)	D197V	possibly damaging	Het
Atp1a3	T	C	7: 24,678,294 (GRCm39)		probably benign	Het
Brwd1	T	C	16: 95,817,350 (GRCm39)	I1387M	probably damaging	Het
Cavin4	A	G	4: 48,672,499 (GRCm39)	T315A	probably benign	Het
Cep128	T	C	12: 90,966,410 (GRCm39)	T1066A	probably benign	Het
Cln3	T	C	7: 126,171,558 (GRCm39)	T376A	probably benign	Het
Cntn4	A	T	6: 106,656,397 (GRCm39)		silent	Het
Colec12	T	A	18: 9,848,963 (GRCm39)	D380E	probably damaging	Het
Csmd3	T	C	15: 47,559,151 (GRCm39)	I2371V	possibly damaging	Het
Cspg4b	A	G	13: 113,453,701 (GRCm39)	S55G	possibly damaging	Het
Cxcl3	T	C	5: 90,935,299 (GRCm39)	S99P	unknown	Het
Ddx60	A	G	8: 62,453,612 (GRCm39)	R1244G	probably benign	Het
Dhx38	T	C	8: 110,280,048 (GRCm39)	D914G	probably damaging	Het
Dlc1	T	G	8: 37,404,655 (GRCm39)		probably benign	Het
Eif4a3l1	A	T	6: 136,306,393 (GRCm39)	I264F	probably benign	Het
Fam161b	A	G	12: 84,403,124 (GRCm39)	S169P	probably damaging	Het
Fastkd1	A	G	2: 69,537,725 (GRCm39)	S286P	possibly damaging	Het
Fmn2	A	T	1: 174,409,603 (GRCm39)	E612V	unknown	Het
Foxb1	T	A	9: 69,667,528 (GRCm39)	M1L	probably damaging	Het
Gm14412	A	T	2: 177,007,402 (GRCm39)	C164*	probably null	Het
Gm43302	T	A	5: 105,423,678 (GRCm39)	M432L	probably benign	Het
Gm4353	C	A	7: 115,682,913 (GRCm39)	A223S	probably damaging	Het
Gpatch8	T	C	11: 102,391,693 (GRCm39)	K143R	unknown	Het
Gpr15	A	G	16: 58,538,013 (GRCm39)	S359P	probably damaging	Het
Gucy2e	A	G	11: 69,119,207 (GRCm39)	L649P	probably damaging	Het
H2-M10.5	C	A	17: 37,085,473 (GRCm39)	H211N	probably damaging	Het
Hs6st1	T	C	1: 36,142,970 (GRCm39)	Y302H	probably damaging	Het
Khdrbs2	A	T	1: 32,506,851 (GRCm39)	D165V	probably damaging	Het
Klra13-ps	T	G	6: 130,281,246 (GRCm39)		noncoding transcript	Het
Lrrc37	T	A	11: 103,507,880 (GRCm39)		probably benign	Het
Lrrc37a	T	A	11: 103,391,001 (GRCm39)	T1475S	probably benign	Het
Ly75	A	G	2: 60,184,844 (GRCm39)	S437P	probably damaging	Het
Maz	C	T	7: 126,624,494 (GRCm39)	C342Y	probably damaging	Het
Mcf2l	C	A	8: 13,063,812 (GRCm39)	S1008*	probably null	Het
Mcmbp	T	C	7: 128,314,478 (GRCm39)	D246G	probably benign	Het
Mipol1	G	A	12: 57,372,346 (GRCm39)	R135H	possibly damaging	Het
Mycbp2	T	A	14: 103,357,955 (GRCm39)	Y4613F	possibly damaging	Het
Nup188	G	A	2: 30,226,336 (GRCm39)	A1118T	probably damaging	Het
Or10g6	A	T	9: 39,933,964 (GRCm39)	I92F	probably damaging	Het
Or4a76	G	A	2: 89,460,688 (GRCm39)	L185F	probably damaging	Het
Or4c121	A	T	2: 89,024,170 (GRCm39)	D69E	possibly damaging	Het
Or4z4	A	G	19: 12,076,290 (GRCm39)	S238P	probably damaging	Het
Or51f1e	A	T	7: 102,747,103 (GRCm39)	S52C	probably benign	Het
Or51h7	T	C	7: 102,591,128 (GRCm39)	K219E	probably benign	Het
P3h1	T	A	4: 119,101,243 (GRCm39)	I460N	possibly damaging	Het
Pcnt	T	C	10: 76,245,334 (GRCm39)	D1101G	probably benign	Het
Phlpp2	C	A	8: 110,655,205 (GRCm39)	Q667K	possibly damaging	Het
Plec	A	G	15: 76,074,666 (GRCm39)	F434L	possibly damaging	Het
Ppp6r2	T	A	15: 89,164,602 (GRCm39)	I602N	probably damaging	Het
Rdh8	A	C	9: 20,736,475 (GRCm39)	I181L	probably benign	Het
Rnf181	A	G	6: 72,338,505 (GRCm39)	M1T	probably null	Het
Rpl29-ps2	A	G	13: 4,664,221 (GRCm39)		noncoding transcript	Het
Sart3	A	G	5: 113,883,217 (GRCm39)		probably null	Het
Sec14l2	A	C	11: 4,059,189 (GRCm39)	L160R	probably damaging	Het
Senp1	C	T	15: 97,946,236 (GRCm39)	R503H	probably damaging	Het
Shoc1	A	G	4: 59,047,399 (GRCm39)	S1407P	probably benign	Het
Slc22a2	T	C	17: 12,827,296 (GRCm39)	V316A	probably benign	Het
Slc34a1	A	T	13: 55,556,898 (GRCm39)	I365F	possibly damaging	Het
Spag5	T	C	11: 78,195,542 (GRCm39)	V283A	possibly damaging	Het
Srebf2	C	T	15: 82,076,456 (GRCm39)	T702I	probably benign	Het
Sun3	A	G	11: 8,981,433 (GRCm39)		probably null	Het
Syt6	A	G	3: 103,528,217 (GRCm39)	Y312C	probably damaging	Het
Tas2r121	T	A	6: 132,677,756 (GRCm39)	Y72F	possibly damaging	Het
Tfrc	A	G	16: 32,442,194 (GRCm39)	Y473C	probably damaging	Het
Trp63	C	T	16: 25,684,935 (GRCm39)	A274V	possibly damaging	Het
Trpm5	T	C	7: 142,626,966 (GRCm39)	D1085G	probably benign	Het
Ttn	A	G	2: 76,745,008 (GRCm39)	V5347A	probably benign	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Vma21-ps	T	A	4: 52,496,946 (GRCm39)	Q100L	possibly damaging	Het
Vmn2r22	T	C	6: 123,614,873 (GRCm39)	N239S	probably benign	Het
Wfdc8	T	C	2: 164,439,339 (GRCm39)		probably benign	Het
Xkr4	T	A	1: 3,741,258 (GRCm39)	Y105F	probably damaging	Het
Xpo7	C	T	14: 70,920,286 (GRCm39)	V627I	possibly damaging	Het
Zfp606	T	C	7: 12,226,479 (GRCm39)	V200A	probably benign	Het
Zfp936	A	T	7: 42,839,858 (GRCm39)	S441C	possibly damaging	Het

Other mutations in Or2k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01687:Or2k2	APN	4	58,785,047 (GRCm39)	missense	probably damaging	1.00
R0281:Or2k2	UTSW	4	58,784,981 (GRCm39)	missense	probably damaging	1.00
R0282:Or2k2	UTSW	4	58,785,344 (GRCm39)	missense	probably damaging	1.00
R1017:Or2k2	UTSW	4	58,785,115 (GRCm39)	missense	probably damaging	0.98
R1843:Or2k2	UTSW	4	58,785,384 (GRCm39)	missense	probably benign
R3976:Or2k2	UTSW	4	58,785,164 (GRCm39)	missense	probably damaging	1.00
R4368:Or2k2	UTSW	4	58,785,153 (GRCm39)	missense	probably benign	0.00
R5545:Or2k2	UTSW	4	58,785,585 (GRCm39)	missense	probably benign	0.08
R5659:Or2k2	UTSW	4	58,785,672 (GRCm39)	missense	probably damaging	1.00
R6186:Or2k2	UTSW	4	58,784,948 (GRCm39)	missense	probably damaging	1.00
R6925:Or2k2	UTSW	4	58,785,647 (GRCm39)	missense	possibly damaging	0.69
R7502:Or2k2	UTSW	4	58,785,648 (GRCm39)	missense	probably benign	0.00
R8185:Or2k2	UTSW	4	58,785,542 (GRCm39)	missense	probably damaging	1.00
R8519:Or2k2	UTSW	4	58,785,203 (GRCm39)	missense	probably damaging	0.99
R9055:Or2k2	UTSW	4	58,785,374 (GRCm39)	missense	possibly damaging	0.91
R9152:Or2k2	UTSW	4	58,785,114 (GRCm39)	missense	probably benign
R9159:Or2k2	UTSW	4	58,785,320 (GRCm39)	missense	probably benign	0.08
R9623:Or2k2	UTSW	4	58,785,585 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- CCTGTTCATGATGATGGGGTAC -3'
(R):5'- AAAATGTCACTGTTTGGAGCC -3'

Sequencing Primer
(F):5'- TACCTCAGAGGGTTACAGATGGC -3'
(R):5'- CCATCCTGGGTAACTGTA -3'

Posted On

2016-11-09