Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:Or13a26'

360689

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or13a26

Ensembl Gene

ENSMUSG00000057997

Gene Name

olfactory receptor family 13 subfamily A member 26

Synonyms

GA_x6K02T2PBJ9-42850324-42851256, MOR253-3, Olfr541

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

140284166-140285104 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140285046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 294 (L294P)

Ref Sequence

ENSEMBL: ENSMUSP00000148238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080681] [ENSMUST00000209857] [ENSMUST00000210357]

AlphaFold

Q8VGM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000080681
AA Change: L294P

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

SMART Domains

Protein: ENSMUSP00000079508
Gene: ENSMUSG00000057997
AA Change: L294P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	309	2.2e-49	PFAM
Pfam:7TM_GPCR_Srsx	37	180	5e-8	PFAM
Pfam:7tm_1	43	292	1.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209857

Predicted Effect

probably damaging
Transcript: ENSMUST00000210357
AA Change: L294P

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

Coding Region Coverage

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,045,293 (GRCm39)	F347I	possibly damaging	Het
Adcy5	A	G	16: 35,124,019 (GRCm39)	T1233A	probably benign	Het
Blnk	C	T	19: 40,950,873 (GRCm39)	D93N	probably damaging	Het
Cadps2	T	C	6: 23,321,706 (GRCm39)	E1083G	probably damaging	Het
Capn8	C	A	1: 182,426,336 (GRCm39)	L224M	probably damaging	Het
Cdh4	A	T	2: 179,422,267 (GRCm39)	E130D	probably benign	Het
Cgn	G	A	3: 94,681,550 (GRCm39)	T515M	probably benign	Het
Chrna10	C	T	7: 101,761,469 (GRCm39)	G374D	probably benign	Het
Chrnb1	T	A	11: 69,686,506 (GRCm39)	Y38F	probably damaging	Het
Cyld	A	G	8: 89,471,525 (GRCm39)	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,853,645 (GRCm39)	F443S	probably benign	Het
Dctn1	C	A	6: 83,166,896 (GRCm39)	A152E	probably damaging	Het
Eml4	T	A	17: 83,748,791 (GRCm39)	Y228*	probably null	Het
Fbln2	T	A	6: 91,242,839 (GRCm39)	C846*	probably null	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gart	T	C	16: 91,420,345 (GRCm39)	S833G	possibly damaging	Het
Gda	T	C	19: 21,405,839 (GRCm39)		probably null	Het
Gjb5	C	T	4: 127,249,355 (GRCm39)	R263Q	probably benign	Het
Gtf2i	T	C	5: 134,315,558 (GRCm39)	K193E	probably damaging	Het
H4c14	C	A	3: 96,170,603 (GRCm39)	K6N	probably benign	Het
Ints1	C	T	5: 139,758,146 (GRCm39)	E244K	possibly damaging	Het
Kat14	G	A	2: 144,244,383 (GRCm39)	S412N	probably benign	Het
Kcnn3	A	T	3: 89,428,482 (GRCm39)	H236L	possibly damaging	Het
Kif15	T	A	9: 122,832,705 (GRCm39)	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,655,855 (GRCm39)	T7A	possibly damaging	Het
Lcp2	T	C	11: 34,021,033 (GRCm39)	S130P	probably damaging	Het
Ldha	T	A	7: 46,500,315 (GRCm39)	Y133*	probably null	Het
Lrp2	A	G	2: 69,337,080 (GRCm39)	C1231R	probably damaging	Het
Lrrn1	T	A	6: 107,544,313 (GRCm39)	V37D	probably damaging	Het
Mep1a	T	A	17: 43,788,112 (GRCm39)	H648L	probably benign	Het
Mmp25	C	T	17: 23,858,736 (GRCm39)	G272R	probably damaging	Het
Myh15	A	G	16: 48,965,801 (GRCm39)		probably benign	Het
Myl3	G	T	9: 110,597,059 (GRCm39)	E140*	probably null	Het
Nlrp4f	A	G	13: 65,332,856 (GRCm39)	S809P	probably damaging	Het
Nrde2	T	C	12: 100,110,394 (GRCm39)	I207M	probably null	Het
Or2y8	C	T	11: 52,035,637 (GRCm39)	C240Y	probably damaging	Het
Or5p54	T	C	7: 107,553,977 (GRCm39)	I43T	probably benign	Het
Paics	T	G	5: 77,110,320 (GRCm39)	V245G	probably damaging	Het
Pank1	A	G	19: 34,818,255 (GRCm39)	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,674,416 (GRCm39)	C167G	probably damaging	Het
Picalm	C	A	7: 89,840,957 (GRCm39)	T542K	possibly damaging	Het
Piezo1	A	G	8: 123,224,954 (GRCm39)	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,289,353 (GRCm39)	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,852,582 (GRCm39)	T634S	probably benign	Het
Rab32	T	C	10: 10,422,171 (GRCm39)	T183A	probably benign	Het
Rad18	T	C	6: 112,621,583 (GRCm39)	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,762,975 (GRCm39)	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,725 (GRCm39)	E101G	probably benign	Het
Rsf1	T	C	7: 97,310,434 (GRCm39)	L388P	probably damaging	Het
Scnn1g	A	G	7: 121,339,588 (GRCm39)	Y129C	probably damaging	Het
Slc7a13	G	A	4: 19,839,387 (GRCm39)	C330Y	probably benign	Het
Spock1	A	T	13: 57,735,486 (GRCm39)	V101E	probably damaging	Het
Sympk	T	A	7: 18,787,198 (GRCm39)	W1029R	probably damaging	Het
Syne2	T	A	12: 75,992,150 (GRCm39)	H2008Q	possibly damaging	Het
Tgs1	T	A	4: 3,585,719 (GRCm39)	Y199N	probably damaging	Het
Trim10	T	A	17: 37,188,228 (GRCm39)	C481*	probably null	Het
Vmn2r102	A	G	17: 19,898,170 (GRCm39)	E395G	probably damaging	Het
Wfs1	A	C	5: 37,125,013 (GRCm39)	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,044,193 (GRCm39)	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,796,775 (GRCm39)	H721R	probably damaging	Het
Zfta	C	A	19: 7,397,787 (GRCm39)	N111K	possibly damaging	Het

Other mutations in Or13a26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Or13a26	APN	7	140,284,350 (GRCm39)	missense	probably damaging	1.00
IGL01872:Or13a26	APN	7	140,284,176 (GRCm39)	missense	possibly damaging	0.59
R0690:Or13a26	UTSW	7	140,284,700 (GRCm39)	missense	possibly damaging	0.88
R1019:Or13a26	UTSW	7	140,284,407 (GRCm39)	missense	probably damaging	1.00
R1665:Or13a26	UTSW	7	140,284,707 (GRCm39)	missense	probably damaging	1.00
R1696:Or13a26	UTSW	7	140,284,409 (GRCm39)	nonsense	probably null
R4065:Or13a26	UTSW	7	140,284,182 (GRCm39)	missense	probably benign
R4517:Or13a26	UTSW	7	140,285,004 (GRCm39)	missense	probably damaging	1.00
R5549:Or13a26	UTSW	7	140,284,712 (GRCm39)	splice site	probably null
R6327:Or13a26	UTSW	7	140,284,616 (GRCm39)	missense	probably damaging	1.00
R7288:Or13a26	UTSW	7	140,284,942 (GRCm39)	nonsense	probably null
R7307:Or13a26	UTSW	7	140,285,060 (GRCm39)	missense	probably benign	0.39
R7454:Or13a26	UTSW	7	140,284,547 (GRCm39)	missense	probably damaging	1.00
R8725:Or13a26	UTSW	7	140,284,607 (GRCm39)	missense	probably benign
R9404:Or13a26	UTSW	7	140,284,722 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18