Mutagenetix > Incidental Mutation

Incidental Mutation 'R4990:Or13a17'

386127

Institutional Source

Beutler Lab

Gene Symbol

Or13a17

Ensembl Gene

ENSMUSG00000066122

Gene Name

olfactory receptor family 13 subfamily A member 17

Synonyms

IB6, Olfr45, MOR253-2, GA_x6K02T2PBJ9-42837030-42837962

MMRRC Submission

042584-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140270797-140271832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140271360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 181 (E181K)

Ref Sequence

ENSEMBL: ENSMUSP00000149309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084454] [ENSMUST00000210241] [ENSMUST00000214637]

AlphaFold

Q8VGM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000084454
AA Change: E181K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081492
Gene: ENSMUSG00000066122
AA Change: E181K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2.8e-50	PFAM
Pfam:7TM_GPCR_Srsx	36	176	1.2e-7	PFAM
Pfam:7tm_1	42	291	3.7e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210241
AA Change: E181K

Predicted Effect

probably damaging
Transcript: ENSMUST00000214637
AA Change: E181K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,334,098 (GRCm39)	I1135V	possibly damaging	Het
Abca14	G	A	7: 119,911,388 (GRCm39)	R1324K	probably benign	Het
Amer3	A	C	1: 34,627,822 (GRCm39)	D687A	probably benign	Het
Aplnr	G	A	2: 84,967,721 (GRCm39)	V249M	probably damaging	Het
Atg16l1	A	G	1: 87,717,091 (GRCm39)	K471R	probably benign	Het
Cacna1b	A	G	2: 24,568,886 (GRCm39)		probably null	Het
Catspere2	A	C	1: 177,925,987 (GRCm39)	I218L	probably benign	Het
Ccdc152	A	G	15: 3,330,639 (GRCm39)	I12T	probably benign	Het
Cds1	A	G	5: 101,946,245 (GRCm39)	Y148C	probably damaging	Het
Cenpe	T	A	3: 134,962,401 (GRCm39)	L1989Q	probably damaging	Het
Cep295	T	C	9: 15,243,434 (GRCm39)	Q1674R	probably damaging	Het
D930020B18Rik	C	G	10: 121,490,666 (GRCm39)	P89A	probably damaging	Het
D930020B18Rik	C	T	10: 121,490,667 (GRCm39)	P89L	probably damaging	Het
Dock2	T	C	11: 34,586,078 (GRCm39)	M535V	probably damaging	Het
Dscam	A	G	16: 96,626,715 (GRCm39)	V398A	probably benign	Het
Elmo1	T	C	13: 20,526,689 (GRCm39)	F413S	probably damaging	Het
Emb	T	A	13: 117,401,046 (GRCm39)	N198K	probably damaging	Het
Eno3	A	G	11: 70,549,473 (GRCm39)	D98G	probably damaging	Het
Fbp1	C	T	13: 63,012,888 (GRCm39)	V102I	probably benign	Het
Fbxw18	T	C	9: 109,517,461 (GRCm39)	E414G	probably damaging	Het
Grem2	A	G	1: 174,664,379 (GRCm39)	C157R	probably damaging	Het
Hnrnpr	G	A	4: 136,063,609 (GRCm39)	V239I	probably damaging	Het
Hnrnpr	A	G	4: 136,056,690 (GRCm39)	E230G	probably damaging	Het
Ipo11	A	T	13: 106,997,395 (GRCm39)	I688K	probably benign	Het
Irx4	G	T	13: 73,413,626 (GRCm39)	R32L	probably benign	Het
Kcnh7	T	C	2: 62,564,632 (GRCm39)	N876D	probably benign	Het
Klk1b26	T	A	7: 43,665,673 (GRCm39)		probably null	Het
Lrp2	G	T	2: 69,311,732 (GRCm39)	T2582K	probably benign	Het
Lrriq1	A	G	10: 103,036,420 (GRCm39)	I911T	probably damaging	Het
Megf6	A	G	4: 154,351,683 (GRCm39)	E1132G	possibly damaging	Het
Mesp1	A	G	7: 79,442,669 (GRCm39)	Y203H	probably damaging	Het
Ms4a4a	T	C	19: 11,356,201 (GRCm39)	S29P	probably benign	Het
Nbeal2	A	C	9: 110,463,871 (GRCm39)	C1174G	probably benign	Het
Neb	C	T	2: 52,145,558 (GRCm39)	V2989I	probably benign	Het
Nkx2-1	T	C	12: 56,581,724 (GRCm39)	Y41C	possibly damaging	Het
Nrxn3	T	A	12: 89,227,244 (GRCm39)	I293N	probably damaging	Het
Nt5e	A	G	9: 88,237,646 (GRCm39)	N192S	probably benign	Het
Ntng1	A	T	3: 110,042,577 (GRCm39)		probably null	Het
Or3a1d	A	G	11: 74,238,023 (GRCm39)	I129T	probably damaging	Het
Or4c110	A	T	2: 88,831,816 (GRCm39)	I272K	probably damaging	Het
Or4c15b	A	T	2: 89,113,671 (GRCm39)		probably null	Het
Panx1	A	G	9: 14,921,513 (GRCm39)	Y121H	probably damaging	Het
Pcsk4	A	G	10: 80,161,215 (GRCm39)	I233T	possibly damaging	Het
Pgm3	T	A	9: 86,440,465 (GRCm39)	I409F	probably damaging	Het
Plg	T	C	17: 12,630,397 (GRCm39)	Y645H	probably benign	Het
Pon3	T	C	6: 5,221,619 (GRCm39)	H337R	probably benign	Het
Rasa2	A	G	9: 96,474,042 (GRCm39)	I162T	probably benign	Het
Ror1	A	G	4: 100,299,161 (GRCm39)	I845V	probably benign	Het
Rpl4	T	C	9: 64,082,167 (GRCm39)	V22A	probably benign	Het
Ryr3	T	C	2: 112,740,318 (GRCm39)	N531S	probably damaging	Het
Ryr3	G	T	2: 112,466,122 (GRCm39)	Q4746K	probably damaging	Het
Sbno1	A	T	5: 124,538,228 (GRCm39)	F571I	probably damaging	Het
Scarf1	T	C	11: 75,416,841 (GRCm39)	V761A	probably benign	Het
Sec22b	T	G	3: 97,828,427 (GRCm39)		probably null	Het
Slc45a2	A	G	15: 11,001,236 (GRCm39)	M112V	probably benign	Het
Snai3	G	A	8: 123,183,071 (GRCm39)	T158M	possibly damaging	Het
Spata31d1a	T	C	13: 59,850,965 (GRCm39)	N388D	probably benign	Het
Speer1e	A	T	5: 11,236,381 (GRCm39)	E138V	probably damaging	Het
Sv2b	T	C	7: 74,767,470 (GRCm39)	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810 (GRCm39)	I561K	probably benign	Het
Trappc11	A	T	8: 47,943,930 (GRCm39)	D1127E	probably benign	Het
Triobp	C	A	15: 78,851,205 (GRCm39)	A453D	probably benign	Het
Tubd1	T	C	11: 86,448,665 (GRCm39)	L295P	probably damaging	Het
Ulk4	C	T	9: 121,021,852 (GRCm39)	V620I	probably benign	Het
Vmn2r39	A	G	7: 9,026,675 (GRCm39)	I442T	probably benign	Het
Wwc1	T	C	11: 35,767,393 (GRCm39)	T413A	probably benign	Het
Zfp131	A	C	13: 120,244,449 (GRCm39)	V77G	probably damaging	Het
Zfyve26	T	C	12: 79,334,607 (GRCm39)	D137G	probably damaging	Het

Other mutations in Or13a17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Or13a17	APN	7	140,271,349 (GRCm39)	missense	probably damaging	1.00
IGL01434:Or13a17	APN	7	140,271,531 (GRCm39)	missense	probably damaging	1.00
IGL01697:Or13a17	APN	7	140,271,565 (GRCm39)	missense	possibly damaging	0.61
IGL02167:Or13a17	APN	7	140,271,664 (GRCm39)	missense	probably damaging	0.98
IGL02388:Or13a17	APN	7	140,271,024 (GRCm39)	missense	probably benign	0.00
IGL03054:Or13a17	UTSW	7	140,271,623 (GRCm39)	missense	probably benign	0.10
R0107:Or13a17	UTSW	7	140,271,258 (GRCm39)	missense	probably benign
R0403:Or13a17	UTSW	7	140,271,222 (GRCm39)	missense	possibly damaging	0.80
R1344:Or13a17	UTSW	7	140,271,712 (GRCm39)	missense	probably damaging	0.98
R1859:Or13a17	UTSW	7	140,271,571 (GRCm39)	missense	possibly damaging	0.80
R2871:Or13a17	UTSW	7	140,271,198 (GRCm39)	missense	possibly damaging	0.95
R2871:Or13a17	UTSW	7	140,271,198 (GRCm39)	missense	possibly damaging	0.95
R3611:Or13a17	UTSW	7	140,271,013 (GRCm39)	missense	probably benign	0.01
R3915:Or13a17	UTSW	7	140,270,888 (GRCm39)	missense	probably benign
R4551:Or13a17	UTSW	7	140,271,655 (GRCm39)	missense	probably damaging	1.00
R4552:Or13a17	UTSW	7	140,271,655 (GRCm39)	missense	probably damaging	1.00
R4627:Or13a17	UTSW	7	140,271,291 (GRCm39)	missense	probably benign	0.00
R4628:Or13a17	UTSW	7	140,271,291 (GRCm39)	missense	probably benign	0.00
R4629:Or13a17	UTSW	7	140,271,291 (GRCm39)	missense	probably benign	0.00
R5503:Or13a17	UTSW	7	140,271,309 (GRCm39)	missense	probably benign	0.01
R7861:Or13a17	UTSW	7	140,271,484 (GRCm39)	missense	probably damaging	1.00
R8077:Or13a17	UTSW	7	140,271,046 (GRCm39)	missense	probably benign	0.16
R8268:Or13a17	UTSW	7	140,271,430 (GRCm39)	missense	probably damaging	1.00
R8532:Or13a17	UTSW	7	140,271,712 (GRCm39)	missense	probably damaging	0.98
R8978:Or13a17	UTSW	7	140,271,642 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCATGGTCAGCATCTTCTG -3'
(R):5'- AAAAGGCCTTCCTCTTGCC -3'

Sequencing Primer
(F):5'- CATGGCCTATGACCGCTATGTG -3'
(R):5'- GCCCTCAGCAGAACGCATG -3'

Posted On

2016-05-10