Mutagenetix > Incidental Mutation

Incidental Mutation 'R0225:Or4k5'

33874

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

038470-MU

Accession Numbers

Essential gene?

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

Stock #

R0225 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

50144731-50152910 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 50148635 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 80 (K80Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149189 (fasta)

Gene Model

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

AlphaFold

Q8VET4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061020
AA Change: K80Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051755
Gene: ENSMUSG00000049011
AA Change: K80Q

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

probably damaging
Transcript: ENSMUST00000213163
AA Change: K80Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215327
AA Change: K80Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215451
AA Change: K80Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.2442

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,540,155 (GRCm38)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,874,855 (GRCm38)	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,444,328 (GRCm38)	V70L	probably benign	Het
Bicd1	T	C	6: 149,512,950 (GRCm38)	I387T	probably benign	Het
Cd59b	G	A	2: 104,078,941 (GRCm38)		probably null	Het
Chn2	T	C	6: 54,290,451 (GRCm38)		probably benign	Het
Col18a1	T	C	10: 77,088,914 (GRCm38)	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,407,035 (GRCm38)	I461T	probably benign	Het
Dele1	G	A	18: 38,261,264 (GRCm38)	V505I	probably benign	Het
Dnlz	T	C	2: 26,351,368 (GRCm38)	N116S	probably damaging	Het
Esyt2	A	G	12: 116,367,710 (GRCm38)	N736S	probably damaging	Het
F11	T	C	8: 45,249,077 (GRCm38)	T267A	probably benign	Het
Fam234b	T	G	6: 135,217,074 (GRCm38)	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,930,347 (GRCm38)	N11S	probably benign	Het
Garnl3	T	C	2: 33,006,804 (GRCm38)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,874,809 (GRCm38)	T119A	probably benign	Het
Gm10647	A	G	9: 66,798,495 (GRCm38)		probably benign	Het
Gm10936	G	A	10: 117,248,130 (GRCm38)		noncoding transcript	Het
Gzmd	A	G	14: 56,129,704 (GRCm38)	W244R	probably damaging	Het
Hdac2	T	A	10: 36,989,184 (GRCm38)	D131E	probably benign	Het
Hira	T	A	16: 18,956,171 (GRCm38)	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,565,037 (GRCm38)		probably benign	Het
Il3	A	G	11: 54,265,680 (GRCm38)		probably null	Het
Itgae	A	C	11: 73,111,342 (GRCm38)	M91L	probably benign	Het
Jkampl	A	G	6: 73,469,419 (GRCm38)	L49P	possibly damaging	Het
Kat2b	A	G	17: 53,641,210 (GRCm38)	E336G	probably damaging	Het
Kctd21	T	A	7: 97,348,091 (GRCm38)	I257N	probably benign	Het
Kif23	C	G	9: 61,925,694 (GRCm38)		probably benign	Het
Lgi3	A	T	14: 70,532,821 (GRCm38)	I109L	probably benign	Het
Lhx9	A	T	1: 138,838,679 (GRCm38)	C124S	probably damaging	Het
Lipo4	A	G	19: 33,501,606 (GRCm38)	V278A	probably benign	Het
Lrch3	T	A	16: 32,961,754 (GRCm38)		probably benign	Het
Lrp1b	T	C	2: 40,596,983 (GRCm38)	E142G	probably damaging	Het
Map9	G	A	3: 82,359,983 (GRCm38)		probably benign	Het
Miox	C	T	15: 89,334,454 (GRCm38)		probably benign	Het
Mndal	A	T	1: 173,857,513 (GRCm38)		probably benign	Het
Mug2	G	T	6: 122,074,714 (GRCm38)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,400,437 (GRCm38)	T29S	probably damaging	Het
Or14a260	A	G	7: 86,335,595 (GRCm38)	I267T	probably benign	Het
Or8d1b	A	G	9: 38,976,278 (GRCm38)	I201V	probably benign	Het
Or8k53	T	C	2: 86,347,728 (GRCm38)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,805,065 (GRCm38)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,228,243 (GRCm38)	R53G	probably benign	Het
Prickle1	A	G	15: 93,510,777 (GRCm38)	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,718,095 (GRCm38)	C309S	probably benign	Het
Rapgef2	A	T	3: 79,104,105 (GRCm38)	S224R	probably damaging	Het
Rimoc1	T	C	15: 3,986,294 (GRCm38)	K263E	probably damaging	Het
Siglecg	G	A	7: 43,411,171 (GRCm38)	G325D	probably damaging	Het
Skor2	A	T	18: 76,859,098 (GRCm38)	I172F	unknown	Het
Slc9a1	A	G	4: 133,420,605 (GRCm38)	K645E	probably benign	Het
St14	T	A	9: 31,108,284 (GRCm38)		probably null	Het
Tas2r120	T	A	6: 132,657,589 (GRCm38)	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,332,900 (GRCm38)	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,379,256 (GRCm38)	S32P	probably damaging	Het
Ttn	C	A	2: 76,793,130 (GRCm38)	V15368L	possibly damaging	Het
Ttn	T	A	2: 76,710,124 (GRCm38)	R34173W	probably damaging	Het
Tyms	A	G	5: 30,063,258 (GRCm38)	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,933,510 (GRCm38)	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,410,866 (GRCm38)	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,175,049 (GRCm38)	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,167,957 (GRCm38)	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,261 (GRCm38)	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,597,185 (GRCm38)	Y426H	probably benign	Het
Zfp948	A	T	17: 21,587,294 (GRCm38)	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,555,073 (GRCm38)		probably benign	Het
Zyg11a	G	A	4: 108,204,641 (GRCm38)	T321I	probably damaging	Het

Other mutations in Or4k5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01802:Or4k5	APN	14	50,148,716 (GRCm38)	missense	probably benign	0.38
IGL02736:Or4k5	APN	14	50,148,424 (GRCm38)	missense	probably benign	0.01
IGL02798:Or4k5	APN	14	50,148,378 (GRCm38)	missense	probably benign
IGL03267:Or4k5	APN	14	50,148,847 (GRCm38)	missense	probably damaging	1.00
R0082:Or4k5	UTSW	14	50,148,055 (GRCm38)	missense	probably damaging	0.97
R0503:Or4k5	UTSW	14	50,148,478 (GRCm38)	missense	probably damaging	1.00
R1022:Or4k5	UTSW	14	50,147,927 (GRCm38)	missense	probably benign
R1024:Or4k5	UTSW	14	50,147,927 (GRCm38)	missense	probably benign
R1424:Or4k5	UTSW	14	50,148,465 (GRCm38)	missense	possibly damaging	0.83
R1440:Or4k5	UTSW	14	50,148,358 (GRCm38)	missense	probably damaging	1.00
R1479:Or4k5	UTSW	14	50,148,788 (GRCm38)	missense	probably benign	0.00
R1583:Or4k5	UTSW	14	50,148,774 (GRCm38)	missense	probably benign	0.00
R1817:Or4k5	UTSW	14	50,148,271 (GRCm38)	missense	probably benign	0.00
R2155:Or4k5	UTSW	14	50,148,697 (GRCm38)	missense	probably damaging	1.00
R2282:Or4k5	UTSW	14	50,148,319 (GRCm38)	missense	probably benign
R2926:Or4k5	UTSW	14	50,148,436 (GRCm38)	missense	probably benign	0.19
R3790:Or4k5	UTSW	14	50,148,569 (GRCm38)	missense	possibly damaging	0.51
R4073:Or4k5	UTSW	14	50,148,043 (GRCm38)	missense	possibly damaging	0.55
R5945:Or4k5	UTSW	14	50,148,763 (GRCm38)	missense	probably benign
R6714:Or4k5	UTSW	14	50,148,214 (GRCm38)	missense	possibly damaging	0.95
R7112:Or4k5	UTSW	14	50,147,935 (GRCm38)	missense	probably benign	0.00
R7157:Or4k5	UTSW	14	50,148,232 (GRCm38)	missense	probably damaging	1.00
R7511:Or4k5	UTSW	14	50,148,256 (GRCm38)	missense	probably damaging	1.00
R7815:Or4k5	UTSW	14	50,148,796 (GRCm38)	missense	probably benign	0.36
R8833:Or4k5	UTSW	14	50,148,366 (GRCm38)	nonsense	probably null
R9486:Or4k5	UTSW	14	50,148,215 (GRCm38)	missense	probably benign	0.21
R9608:Or4k5	UTSW	14	50,148,598 (GRCm38)	missense	probably benign	0.35
Z1177:Or4k5	UTSW	14	50,148,851 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATGTGTGTACCAAGCCCACAGCC -3'
(R):5'- AGTGCAAATCTGTGCCCTGAATCC -3'

Sequencing Primer
(F):5'- GCCCAAGAGATTACTACCAAGG -3'
(R):5'- CACCAATTATTCAGTGGTGTCTG -3'

Posted On

2013-05-09