Mutagenetix > Incidental Mutation

Incidental Mutation 'R5524:Or5k17'

431781

Institutional Source

Beutler Lab

Gene Symbol

Or5k17

Ensembl Gene

ENSMUSG00000090951

Gene Name

olfactory receptor family 5 subfamily K member 17

Synonyms

Olfr181, MOR184-4, GA_x54KRFPKG5P-55145984-55145034

MMRRC Submission

043082-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5524 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58745920-58749007 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58746172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 254 (C254Y)

Ref Sequence

ENSEMBL: ENSMUSP00000145877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075361] [ENSMUST00000205668] [ENSMUST00000205742] [ENSMUST00000205986] [ENSMUST00000206168]

AlphaFold

Q8VGQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000075361
AA Change: C254Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000074825
Gene: ENSMUSG00000090951
AA Change: C254Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	5.7e-52	PFAM
Pfam:7TM_GPCR_Srsx	35	308	6.1e-6	PFAM
Pfam:7tm_1	41	308	3.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205668

Predicted Effect

probably benign
Transcript: ENSMUST00000205742
AA Change: C254Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000205986
AA Change: C254Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000206168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214942

Meta Mutation Damage Score

0.1601

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

100% (76/76)

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

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010L04Rik	T	A	7: 82,503,150 (GRCm39)		noncoding transcript	Het
6030469F06Rik	A	G	12: 31,234,862 (GRCm39)		noncoding transcript	Het
A830031A19Rik	T	A	11: 24,008,776 (GRCm39)	I13F	unknown	Het
Acsbg2	A	C	17: 57,157,197 (GRCm39)	L309R	probably damaging	Het
Adam32	A	T	8: 25,412,328 (GRCm39)	M76K	probably damaging	Het
Adamts14	C	A	10: 61,066,222 (GRCm39)	R297L	probably damaging	Het
Agbl5	G	A	5: 31,051,247 (GRCm39)		probably null	Het
Asb14	A	G	14: 26,622,408 (GRCm39)	K80E	possibly damaging	Het
Baiap2l1	T	C	5: 144,217,759 (GRCm39)	T276A	probably benign	Het
Cacna1d	G	A	14: 29,764,086 (GRCm39)	P2127S	probably benign	Het
Ces2g	A	G	8: 105,693,527 (GRCm39)	T403A	probably benign	Het
Cgn	A	C	3: 94,687,299 (GRCm39)	M1R	probably null	Het
Chd5	T	G	4: 152,461,087 (GRCm39)	S1226A	probably benign	Het
Col18a1	A	G	10: 76,894,558 (GRCm39)	V1497A	probably damaging	Het
Cpd	A	T	11: 76,688,727 (GRCm39)	Y848*	probably null	Het
Cyp2a12	T	C	7: 26,730,656 (GRCm39)	V207A	probably benign	Het
Cyth1	G	A	11: 118,073,593 (GRCm39)	R247W	probably benign	Het
Derl3	T	C	10: 75,730,324 (GRCm39)	V129A	possibly damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eml1	A	T	12: 108,487,635 (GRCm39)	I518L	probably damaging	Het
Eri1	A	G	8: 35,945,763 (GRCm39)	V174A	probably benign	Het
Fgd3	T	A	13: 49,431,053 (GRCm39)	I435F	probably damaging	Het
Foxd1	T	G	13: 98,492,412 (GRCm39)	S429A	unknown	Het
Ftcd	T	A	10: 76,425,165 (GRCm39)		probably benign	Het
Gm5478	G	T	15: 101,553,102 (GRCm39)	N323K	probably benign	Het
Gnpda1	G	T	18: 38,468,161 (GRCm39)	P45Q	probably damaging	Het
Kif20a	G	T	18: 34,763,678 (GRCm39)		probably null	Het
Klrb1	T	C	6: 128,689,296 (GRCm39)		probably null	Het
Lcorl	C	A	5: 45,932,864 (GRCm39)		probably null	Het
Lcorl	T	A	5: 45,932,865 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,000,900 (GRCm39)	K2108M	probably damaging	Het
Lyst	C	T	13: 13,921,364 (GRCm39)	P3437S	probably benign	Het
Macrod2	A	T	2: 142,159,863 (GRCm39)	M349L	possibly damaging	Het
Marchf7	T	C	2: 60,075,647 (GRCm39)		probably benign	Het
Mcm9	A	T	10: 53,424,786 (GRCm39)	C601*	probably null	Het
Muc19	G	T	15: 91,778,587 (GRCm39)		noncoding transcript	Het
Mycbp2	T	C	14: 103,532,673 (GRCm39)	D427G	probably damaging	Het
Nap1l5	C	A	6: 58,883,763 (GRCm39)	V64L	possibly damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Npas3	T	C	12: 54,115,721 (GRCm39)	V863A	possibly damaging	Het
Nr2c2	T	A	6: 92,116,746 (GRCm39)		probably null	Het
Oosp3	T	C	19: 11,682,794 (GRCm39)	F56S	possibly damaging	Het
Or1a1b	A	T	11: 74,097,409 (GRCm39)	L211Q	probably damaging	Het
Or8g20	C	T	9: 39,396,283 (GRCm39)	V89M	probably damaging	Het
Plgrkt	G	A	19: 29,327,850 (GRCm39)	P78S	probably damaging	Het
Prss36	G	A	7: 127,533,637 (GRCm39)	Q56*	probably null	Het
Ptprz1	A	G	6: 22,986,317 (GRCm39)		probably null	Het
Qsox2	A	T	2: 26,107,699 (GRCm39)	F265I	probably damaging	Het
R3hcc1l	G	T	19: 42,552,307 (GRCm39)	E435*	probably null	Het
Shbg	T	C	11: 69,507,588 (GRCm39)	D163G	probably benign	Het
Skint7	T	A	4: 111,837,546 (GRCm39)	L108H	probably damaging	Het
Smtnl1	T	A	2: 84,649,238 (GRCm39)	E5D	probably benign	Het
Spock1	C	T	13: 57,704,608 (GRCm39)	G120D	probably damaging	Het
Stk11ip	G	T	1: 75,508,971 (GRCm39)	C700F	probably damaging	Het
Sult4a1	C	T	15: 83,974,159 (GRCm39)		probably null	Het
Syngap1	A	G	17: 27,176,126 (GRCm39)	H138R	probably damaging	Het
Tdrd7	A	G	4: 46,034,301 (GRCm39)	K1016E	probably benign	Het
Tmem167b	T	C	3: 108,467,569 (GRCm39)	K26E	possibly damaging	Het
Tnfaip3	A	G	10: 18,883,943 (GRCm39)	S146P	probably damaging	Het
Ttn	C	T	2: 76,607,060 (GRCm39)	V16242I	possibly damaging	Het
Vmn2r-ps3	T	A	3: 63,960,870 (GRCm39)		noncoding transcript	Het
Vps13c	T	C	9: 67,864,838 (GRCm39)	F3049S	probably damaging	Het
Vstm2l	T	C	2: 157,777,355 (GRCm39)	W78R	probably damaging	Het
Wbp1l	C	A	19: 46,642,695 (GRCm39)	A216D	possibly damaging	Het
Zer1	C	G	2: 29,994,866 (GRCm39)	V510L	probably damaging	Het
Zfp28	A	T	7: 6,397,850 (GRCm39)		probably null	Het
Zfp352	C	A	4: 90,113,341 (GRCm39)	P494T	possibly damaging	Het
Zfp353-ps	A	G	8: 42,535,600 (GRCm39)		noncoding transcript	Het
Zfp563	A	T	17: 33,321,515 (GRCm39)		probably null	Het
Zim1	T	C	7: 6,680,320 (GRCm39)	N448D	probably benign	Het

Other mutations in Or5k17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01845:Or5k17	APN	16	58,746,929 (GRCm39)	missense	probably benign
IGL02477:Or5k17	APN	16	58,746,126 (GRCm39)	missense	probably benign	0.07
IGL02545:Or5k17	APN	16	58,746,833 (GRCm39)	missense	possibly damaging	0.88
IGL02690:Or5k17	APN	16	58,746,214 (GRCm39)	missense	possibly damaging	0.78
IGL02718:Or5k17	APN	16	58,746,459 (GRCm39)	missense	possibly damaging	0.57
IGL02945:Or5k17	APN	16	58,746,703 (GRCm39)	missense	probably damaging	1.00
IGL03349:Or5k17	APN	16	58,746,323 (GRCm39)	missense	probably benign	0.00
B5639:Or5k17	UTSW	16	58,746,889 (GRCm39)	missense	probably benign	0.00
R0550:Or5k17	UTSW	16	58,746,748 (GRCm39)	missense	probably damaging	1.00
R0659:Or5k17	UTSW	16	58,746,772 (GRCm39)	missense	possibly damaging	0.94
R1433:Or5k17	UTSW	16	58,746,049 (GRCm39)	missense	probably benign
R1957:Or5k17	UTSW	16	58,746,530 (GRCm39)	missense	probably benign
R2155:Or5k17	UTSW	16	58,746,486 (GRCm39)	missense	probably benign	0.01
R2404:Or5k17	UTSW	16	58,745,998 (GRCm39)	missense	probably benign	0.01
R2568:Or5k17	UTSW	16	58,746,286 (GRCm39)	missense	probably benign	0.27
R4022:Or5k17	UTSW	16	58,746,483 (GRCm39)	missense	possibly damaging	0.94
R4592:Or5k17	UTSW	16	58,746,455 (GRCm39)	missense	probably benign	0.00
R4673:Or5k17	UTSW	16	58,746,053 (GRCm39)	missense	possibly damaging	0.61
R4880:Or5k17	UTSW	16	58,746,463 (GRCm39)	missense	probably damaging	0.98
R5109:Or5k17	UTSW	16	58,746,422 (GRCm39)	missense	probably benign	0.10
R5231:Or5k17	UTSW	16	58,746,077 (GRCm39)	missense	possibly damaging	0.94
R5291:Or5k17	UTSW	16	58,746,764 (GRCm39)	missense	possibly damaging	0.96
R5477:Or5k17	UTSW	16	58,746,393 (GRCm39)	missense	possibly damaging	0.61
R5809:Or5k17	UTSW	16	58,746,860 (GRCm39)	missense	probably benign
R5830:Or5k17	UTSW	16	58,746,457 (GRCm39)	missense	possibly damaging	0.64
R6119:Or5k17	UTSW	16	58,746,895 (GRCm39)	missense	possibly damaging	0.94
R6217:Or5k17	UTSW	16	58,746,877 (GRCm39)	missense	probably benign	0.03
R6861:Or5k17	UTSW	16	58,746,867 (GRCm39)	missense	probably benign
R6939:Or5k17	UTSW	16	58,746,648 (GRCm39)	nonsense	probably null
R7376:Or5k17	UTSW	16	58,746,121 (GRCm39)	missense	possibly damaging	0.82
R7650:Or5k17	UTSW	16	58,746,416 (GRCm39)	nonsense	probably null
R8153:Or5k17	UTSW	16	58,746,149 (GRCm39)	missense	possibly damaging	0.47
R8947:Or5k17	UTSW	16	58,746,433 (GRCm39)	missense	probably benign
R9205:Or5k17	UTSW	16	58,746,486 (GRCm39)	missense	probably benign	0.01
R9205:Or5k17	UTSW	16	58,746,485 (GRCm39)	missense	probably benign	0.00
R9318:Or5k17	UTSW	16	58,746,271 (GRCm39)	missense	probably damaging	1.00
R9654:Or5k17	UTSW	16	58,746,752 (GRCm39)	missense	probably benign	0.00
R9678:Or5k17	UTSW	16	58,746,640 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CAGTTGATGCCTGGCAATTTTAG -3'
(R):5'- CTCCTGTACAGACCCATTTATCAATG -3'

Sequencing Primer
(F):5'- AAGCTGAAATTAGTGTGCTATAGAAG -3'
(R):5'- TTGGTCTCTTACAGCTGC -3'

Posted On

2016-10-05