Mutagenetix > Incidental Mutation

Incidental Mutation 'R1424:Or4k5'

161241

Institutional Source

Beutler Lab

Gene Symbol

Or4k5

Ensembl Gene

ENSMUSG00000049011

Gene Name

olfactory receptor family 4 subfamily K member 5

Synonyms

MOR246-6, GA_x6K02T2PMLR-5839874-5838903, Olfr729

MMRRC Submission

039480-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R1424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50385358-50386329 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 50385922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 136 (M136I)

Ref Sequence

ENSEMBL: ENSMUSP00000149189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061020] [ENSMUST00000213163] [ENSMUST00000215327] [ENSMUST00000215451]

AlphaFold

Q8VET4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061020
AA Change: M136I

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000051755
Gene: ENSMUSG00000049011
AA Change: M136I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	8.3e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	286	1.4e-5	PFAM
Pfam:7tm_1	41	287	2.4e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213163
AA Change: M136I

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215327
AA Change: M136I

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215451
AA Change: M136I

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1191

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.6%

Validation Efficiency

97% (57/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	C	A	12: 72,939,669 (GRCm39)	E415*	probably null	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Acad12	C	T	5: 121,742,385 (GRCm39)	A408T	probably benign	Het
Acox2	T	A	14: 8,230,247 (GRCm38)	H632L	probably benign	Het
Anxa5	A	T	3: 36,506,441 (GRCm39)		probably null	Het
Ap1m2	A	T	9: 21,209,500 (GRCm39)	I392N	possibly damaging	Het
Casp2	T	C	6: 42,253,725 (GRCm39)		probably benign	Het
Cel	C	T	2: 28,449,636 (GRCm39)	A243T	probably damaging	Het
Depp1	A	G	6: 116,628,966 (GRCm39)	N103S	possibly damaging	Het
Dgka	A	T	10: 128,569,202 (GRCm39)	S177T	possibly damaging	Het
Dnajc6	A	G	4: 101,496,544 (GRCm39)	T836A	possibly damaging	Het
Dock3	T	C	9: 106,790,392 (GRCm39)	S1444G	probably damaging	Het
Dtl	T	C	1: 191,293,649 (GRCm39)	D176G	probably benign	Het
Eif4g1	T	C	16: 20,497,692 (GRCm39)	I230T	probably benign	Het
Fam227a	T	A	15: 79,518,309 (GRCm39)	I328F	probably benign	Het
Fam98a	A	G	17: 75,847,173 (GRCm39)	L179S	probably damaging	Het
Fgb	A	T	3: 82,954,070 (GRCm39)	I56N	probably damaging	Het
Fmo1	C	T	1: 162,657,635 (GRCm39)	R502Q	probably damaging	Het
Fndc3a	C	T	14: 72,811,811 (GRCm39)	A340T	probably damaging	Het
Gli3	C	A	13: 15,900,899 (GRCm39)	Q1429K	probably benign	Het
Gm3443	A	T	19: 21,534,959 (GRCm39)	I75F	possibly damaging	Het
Gtpbp6	C	T	5: 110,252,155 (GRCm39)		probably null	Het
Gtsf1	A	T	15: 103,318,070 (GRCm39)	Y156*	probably null	Het
Hmcn1	T	C	1: 150,522,545 (GRCm39)	T3452A	probably benign	Het
Kcnj10	T	A	1: 172,196,822 (GRCm39)	V112E	probably damaging	Het
Lama3	C	A	18: 12,653,048 (GRCm39)	T256K	probably benign	Het
Lrrc8d	G	A	5: 105,974,782 (GRCm39)	V63M	unknown	Het
Matn3	G	T	12: 9,011,132 (GRCm39)	A348S	possibly damaging	Het
Mmp16	A	G	4: 18,112,121 (GRCm39)		probably null	Het
Nsd3	A	G	8: 26,190,594 (GRCm39)	N175S	probably damaging	Het
Or11h4	A	T	14: 50,974,521 (GRCm39)	F33I	probably benign	Het
Or1d2	C	A	11: 74,255,780 (GRCm39)	P95Q	probably benign	Het
Or4c35	C	T	2: 89,808,415 (GRCm39)	Q98*	probably null	Het
Pcdhb12	T	A	18: 37,571,132 (GRCm39)	N759K	probably benign	Het
Pcsk2	T	C	2: 143,415,348 (GRCm39)		probably benign	Het
Polq	G	A	16: 36,906,890 (GRCm39)	D2284N	probably damaging	Het
Prdm12	C	T	2: 31,533,823 (GRCm39)	R147C	probably damaging	Het
Ptprz1	A	G	6: 23,000,382 (GRCm39)	D824G	probably benign	Het
Rere	C	T	4: 150,701,495 (GRCm39)	R1292C	probably damaging	Het
Rptor	T	A	11: 119,671,419 (GRCm39)	L294*	probably null	Het
Sbf2	A	T	7: 109,914,233 (GRCm39)	C1650S	probably damaging	Het
Sdk1	C	T	5: 142,147,621 (GRCm39)	T1751I	probably damaging	Het
Sh3bp1	T	C	15: 78,787,899 (GRCm39)		probably null	Het
Shank2	T	A	7: 143,606,109 (GRCm39)	D97E	probably damaging	Het
Tab2	A	C	10: 7,795,812 (GRCm39)	S149R	possibly damaging	Het
Taok1	G	T	11: 77,440,190 (GRCm39)	R606S	probably benign	Het
Tas2r121	A	G	6: 132,677,645 (GRCm39)	L109P	probably damaging	Het
Tmem117	A	G	15: 94,829,689 (GRCm39)	M175V	probably benign	Het
Tmprss11b	T	C	5: 86,812,832 (GRCm39)	K155E	probably benign	Het
Tmtc2	G	T	10: 105,249,229 (GRCm39)	T168N	probably benign	Het
Top2b	G	A	14: 16,383,177 (GRCm38)	R55H	probably damaging	Het
Tsga10ip	C	T	19: 5,440,942 (GRCm39)		probably null	Het
Tuba8	A	G	6: 121,197,470 (GRCm39)	N44S	probably benign	Het
Ube2o	A	G	11: 116,434,558 (GRCm39)	V590A	probably benign	Het
Ush2a	T	G	1: 188,275,075 (GRCm39)		probably null	Het
Vmn2r23	T	A	6: 123,690,229 (GRCm39)	Y368*	probably null	Het

Other mutations in Or4k5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01802:Or4k5	APN	14	50,386,173 (GRCm39)	missense	probably benign	0.38
IGL02736:Or4k5	APN	14	50,385,881 (GRCm39)	missense	probably benign	0.01
IGL02798:Or4k5	APN	14	50,385,835 (GRCm39)	missense	probably benign
IGL03267:Or4k5	APN	14	50,386,304 (GRCm39)	missense	probably damaging	1.00
R0082:Or4k5	UTSW	14	50,385,512 (GRCm39)	missense	probably damaging	0.97
R0225:Or4k5	UTSW	14	50,386,092 (GRCm39)	missense	probably damaging	1.00
R0503:Or4k5	UTSW	14	50,385,935 (GRCm39)	missense	probably damaging	1.00
R1022:Or4k5	UTSW	14	50,385,384 (GRCm39)	missense	probably benign
R1024:Or4k5	UTSW	14	50,385,384 (GRCm39)	missense	probably benign
R1440:Or4k5	UTSW	14	50,385,815 (GRCm39)	missense	probably damaging	1.00
R1479:Or4k5	UTSW	14	50,386,245 (GRCm39)	missense	probably benign	0.00
R1583:Or4k5	UTSW	14	50,386,231 (GRCm39)	missense	probably benign	0.00
R1817:Or4k5	UTSW	14	50,385,728 (GRCm39)	missense	probably benign	0.00
R2155:Or4k5	UTSW	14	50,386,154 (GRCm39)	missense	probably damaging	1.00
R2282:Or4k5	UTSW	14	50,385,776 (GRCm39)	missense	probably benign
R2926:Or4k5	UTSW	14	50,385,893 (GRCm39)	missense	probably benign	0.19
R3790:Or4k5	UTSW	14	50,386,026 (GRCm39)	missense	possibly damaging	0.51
R4073:Or4k5	UTSW	14	50,385,500 (GRCm39)	missense	possibly damaging	0.55
R5945:Or4k5	UTSW	14	50,386,220 (GRCm39)	missense	probably benign
R6714:Or4k5	UTSW	14	50,385,671 (GRCm39)	missense	possibly damaging	0.95
R7112:Or4k5	UTSW	14	50,385,392 (GRCm39)	missense	probably benign	0.00
R7157:Or4k5	UTSW	14	50,385,689 (GRCm39)	missense	probably damaging	1.00
R7511:Or4k5	UTSW	14	50,385,713 (GRCm39)	missense	probably damaging	1.00
R7815:Or4k5	UTSW	14	50,386,253 (GRCm39)	missense	probably benign	0.36
R8833:Or4k5	UTSW	14	50,385,823 (GRCm39)	nonsense	probably null
R9486:Or4k5	UTSW	14	50,385,672 (GRCm39)	missense	probably benign	0.21
R9608:Or4k5	UTSW	14	50,386,055 (GRCm39)	missense	probably benign	0.35
Z1177:Or4k5	UTSW	14	50,386,308 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAGCAGCCAGTGTAGAAAATGCC -3'
(R):5'- TAGCTGTGACTTCTGACAGCAGCC -3'

Sequencing Primer
(F):5'- GGACTTGAACCAAACTGTGAC -3'
(R):5'- TTCTGACAGCAGCCTGCAC -3'

Posted On

2014-03-14