Mutagenetix > Incidental Mutation

Incidental Mutation 'R2147:Or5k8'

233957

Institutional Source

Beutler Lab

Gene Symbol

Or5k8

Ensembl Gene

ENSMUSG00000060663

Gene Name

olfactory receptor family 5 subfamily K member 8

Synonyms

GA_x54KRFPKG5P-55026345-55025418, MOR184-10P, MOR184-1, GA_x54KRFPKG5P-54993816-54992890, Olfr175-ps1, Olfr175, Olfr174

MMRRC Submission

040150-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R2147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58644144-58647124 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58644842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 77 (I77F)

Ref Sequence

ENSEMBL: ENSMUSP00000150202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079955] [ENSMUST00000215069]

AlphaFold

A0A140T8K4

Predicted Effect

probably damaging
Transcript: ENSMUST00000079955
AA Change: I77F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078873
Gene: ENSMUSG00000060663
AA Change: I77F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.3e-52	PFAM
Pfam:7TM_GPCR_Srsx	35	305	6.8e-6	PFAM
Pfam:7tm_1	41	290	2.5e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215069
AA Change: I77F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,903,003 (GRCm39)	M91K	probably benign	Het
Abr	T	C	11: 76,346,474 (GRCm39)	R437G	probably damaging	Het
Acaca	T	G	11: 84,167,362 (GRCm39)	D1045E	probably benign	Het
Adam23	A	T	1: 63,573,521 (GRCm39)		probably null	Het
Adam34	A	G	8: 44,105,538 (GRCm39)	Y36H	probably benign	Het
Alg11	G	A	8: 22,555,309 (GRCm39)	G108D	probably damaging	Het
Alox12e	A	T	11: 70,210,771 (GRCm39)	I316N	probably damaging	Het
Arid1a	A	T	4: 133,408,677 (GRCm39)	F1943L	unknown	Het
Armh4	T	C	14: 49,989,028 (GRCm39)	D647G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
BC035044	T	C	6: 128,867,867 (GRCm39)		probably benign	Het
Bcor	G	A	X: 11,923,862 (GRCm39)	A578V	possibly damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Ccnf	A	T	17: 24,449,288 (GRCm39)		probably null	Het
Cdadc1	A	G	14: 59,835,202 (GRCm39)		probably null	Het
Cep57l1	A	G	10: 41,616,895 (GRCm39)	Y131H	probably damaging	Het
Cfap251	T	C	5: 123,394,254 (GRCm39)	V381A	probably benign	Het
Cfap44	A	G	16: 44,272,047 (GRCm39)	R1267G	probably benign	Het
Chd3	A	T	11: 69,239,854 (GRCm39)	L1658Q	probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Chpf2	T	A	5: 24,797,033 (GRCm39)	F660I	probably damaging	Het
Cmas	T	A	6: 142,717,015 (GRCm39)	D302E	probably benign	Het
Cpne3	T	A	4: 19,536,562 (GRCm39)	M233L	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dennd3	T	G	15: 73,395,336 (GRCm39)	L143R	probably damaging	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dock2	A	G	11: 34,179,472 (GRCm39)		probably null	Het
Ergic1	A	G	17: 26,855,024 (GRCm39)		probably null	Het
Fbxl15	A	T	19: 46,317,627 (GRCm39)	D103V	probably damaging	Het
Gm4781	C	A	10: 100,232,414 (GRCm39)		noncoding transcript	Het
Hpca	A	G	4: 129,012,278 (GRCm39)	I86T	possibly damaging	Het
Katnip	T	A	7: 125,464,492 (GRCm39)	H1286Q	probably damaging	Het
Lamb3	T	C	1: 193,010,212 (GRCm39)	V275A	probably benign	Het
Lipe	G	T	7: 25,087,946 (GRCm39)	A38E	probably benign	Het
Lrrk1	A	T	7: 65,935,159 (GRCm39)		probably null	Het
Lrsam1	T	C	2: 32,835,891 (GRCm39)	K292R	probably damaging	Het
Mbtps1	A	T	8: 120,265,598 (GRCm39)	H316Q	probably benign	Het
Mms22l	T	A	4: 24,580,063 (GRCm39)	Y525*	probably null	Het
Mrps14	T	C	1: 160,022,862 (GRCm39)	L9P	possibly damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myo15a	A	G	11: 60,401,055 (GRCm39)	D2992G	possibly damaging	Het
N4bp2	T	A	5: 65,966,543 (GRCm39)	L1327Q	probably damaging	Het
Nradd	A	T	9: 110,451,243 (GRCm39)	F42I	probably benign	Het
Pank1	T	C	19: 34,804,754 (GRCm39)	H134R	probably benign	Het
Pcdh7	T	A	5: 58,286,458 (GRCm39)	M1178K	possibly damaging	Het
Pcnx3	A	T	19: 5,717,633 (GRCm39)	I1084N	probably damaging	Het
Pdcd11	A	G	19: 47,093,191 (GRCm39)	M490V	probably benign	Het
Phf2	T	C	13: 48,958,165 (GRCm39)	K950E	unknown	Het
Pitpnc1	C	T	11: 107,103,344 (GRCm39)	A252T	probably damaging	Het
Prickle2	A	G	6: 92,402,652 (GRCm39)	L112P	probably damaging	Het
Prpf8	A	G	11: 75,381,357 (GRCm39)	I231V	probably benign	Het
Scin	T	A	12: 40,130,984 (GRCm39)	M310L	probably benign	Het
Serpina3m	T	A	12: 104,355,483 (GRCm39)	I50N	probably benign	Het
Skint8	C	G	4: 111,794,274 (GRCm39)	N221K	probably damaging	Het
Slc22a23	C	T	13: 34,366,990 (GRCm39)	V673M	probably benign	Het
Slc24a5	A	G	2: 124,929,361 (GRCm39)	D368G	probably damaging	Het
Slc28a1	A	T	7: 80,776,015 (GRCm39)	Q237L	possibly damaging	Het
Smchd1	T	A	17: 71,705,583 (GRCm39)	K1005N	possibly damaging	Het
Stim2	T	C	5: 54,262,717 (GRCm39)	Y320H	probably damaging	Het
Syne3	T	A	12: 104,919,357 (GRCm39)	D512V	probably damaging	Het
Tada2a	T	C	11: 83,970,455 (GRCm39)	D432G	probably damaging	Het
Tcp10a	T	C	17: 7,601,701 (GRCm39)	S216P	probably damaging	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Tmem236	A	G	2: 14,223,861 (GRCm39)	I217V	probably benign	Het
Tmem45b	A	G	9: 31,340,277 (GRCm39)	V128A	probably benign	Het
Tnfaip2	T	C	12: 111,412,456 (GRCm39)	Y286H	probably damaging	Het
Tsc2	T	A	17: 24,840,116 (GRCm39)	I427L	possibly damaging	Het
Ttc17	T	A	2: 94,132,139 (GRCm39)	N1180I	possibly damaging	Het
Ubr1	T	G	2: 120,694,811 (GRCm39)	D1707A	probably damaging	Het
Vmn1r11	A	G	6: 57,114,583 (GRCm39)	I82M	probably benign	Het
Vmn2r129	T	C	4: 156,687,014 (GRCm39)		noncoding transcript	Het
Vps41	G	T	13: 19,023,904 (GRCm39)		probably null	Het
Wnt5a	A	G	14: 28,235,274 (GRCm39)	Y86C	probably damaging	Het
Zfp629	T	C	7: 127,209,616 (GRCm39)	H731R	probably damaging	Het
Zfp712	T	C	13: 67,189,960 (GRCm39)	E189G	possibly damaging	Het

Other mutations in Or5k8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Or5k8	APN	16	58,644,958 (GRCm39)	missense	probably damaging	1.00
IGL01404:Or5k8	APN	16	58,644,958 (GRCm39)	missense	probably damaging	1.00
IGL01867:Or5k8	APN	16	58,644,337 (GRCm39)	missense	probably damaging	1.00
IGL02073:Or5k8	APN	16	58,644,169 (GRCm39)	missense	probably benign
IGL02393:Or5k8	APN	16	58,644,409 (GRCm39)	missense	probably damaging	0.99
IGL02474:Or5k8	APN	16	58,645,019 (GRCm39)	missense	probably benign
IGL02548:Or5k8	APN	16	58,644,691 (GRCm39)	missense	probably benign	0.42
IGL02948:Or5k8	APN	16	58,644,451 (GRCm39)	missense	probably benign	0.00
PIT4504001:Or5k8	UTSW	16	58,644,671 (GRCm39)	missense	probably benign	0.00
R0553:Or5k8	UTSW	16	58,644,518 (GRCm39)	missense	probably damaging	0.99
R1191:Or5k8	UTSW	16	58,644,922 (GRCm39)	missense	probably benign
R1201:Or5k8	UTSW	16	58,644,226 (GRCm39)	missense	probably damaging	0.98
R1458:Or5k8	UTSW	16	58,645,039 (GRCm39)	missense	probably null	0.68
R1469:Or5k8	UTSW	16	58,644,973 (GRCm39)	missense	probably benign
R1469:Or5k8	UTSW	16	58,644,973 (GRCm39)	missense	probably benign
R1843:Or5k8	UTSW	16	58,644,440 (GRCm39)	missense	probably damaging	0.99
R2421:Or5k8	UTSW	16	58,644,709 (GRCm39)	missense	probably damaging	1.00
R4370:Or5k8	UTSW	16	58,644,956 (GRCm39)	missense	probably benign	0.00
R4621:Or5k8	UTSW	16	58,644,469 (GRCm39)	missense	possibly damaging	0.94
R4622:Or5k8	UTSW	16	58,644,469 (GRCm39)	missense	possibly damaging	0.94
R4623:Or5k8	UTSW	16	58,644,469 (GRCm39)	missense	possibly damaging	0.94
R4711:Or5k8	UTSW	16	58,645,069 (GRCm39)	start codon destroyed	probably null	0.98
R5323:Or5k8	UTSW	16	58,645,066 (GRCm39)	missense	probably benign
R5447:Or5k8	UTSW	16	58,644,846 (GRCm39)	nonsense	probably null
R5457:Or5k8	UTSW	16	58,644,796 (GRCm39)	missense	probably damaging	0.97
R5546:Or5k8	UTSW	16	58,644,516 (GRCm39)	nonsense	probably null
R5623:Or5k8	UTSW	16	58,644,706 (GRCm39)	missense	probably benign	0.02
R5767:Or5k8	UTSW	16	58,644,316 (GRCm39)	missense	probably benign	0.42
R6270:Or5k8	UTSW	16	58,644,782 (GRCm39)	missense	probably damaging	1.00
R6449:Or5k8	UTSW	16	58,644,889 (GRCm39)	missense	probably damaging	1.00
R7356:Or5k8	UTSW	16	58,644,718 (GRCm39)	missense	probably damaging	0.99
R7521:Or5k8	UTSW	16	58,644,257 (GRCm39)	missense	probably benign	0.00
R7638:Or5k8	UTSW	16	58,644,958 (GRCm39)	missense	probably damaging	1.00
R7814:Or5k8	UTSW	16	58,644,365 (GRCm39)	missense	probably damaging	0.98
R9109:Or5k8	UTSW	16	58,644,677 (GRCm39)	missense	probably damaging	1.00
R9276:Or5k8	UTSW	16	58,644,734 (GRCm39)	missense	probably benign	0.09
R9681:Or5k8	UTSW	16	58,644,176 (GRCm39)	missense	possibly damaging	0.90
X0011:Or5k8	UTSW	16	58,645,026 (GRCm39)	missense	probably benign
Z1176:Or5k8	UTSW	16	58,644,670 (GRCm39)	frame shift	probably null
Z1177:Or5k8	UTSW	16	58,645,061 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- GTGGTCATTTGAAGGCAGAGC -3'
(R):5'- TCCTCATAGGATTCTCAGACCAC -3'

Sequencing Primer
(F):5'- AGGCAGAGCTTCTTGGACATC -3'
(R):5'- TAGGATTCTCAGACCACCCAGAC -3'

Posted On

2014-10-01