Mutagenetix > Incidental Mutation

Incidental Mutation 'R6976:Or13e8'

542451

Institutional Source

Beutler Lab

Gene Symbol

Or13e8

Ensembl Gene

ENSMUSG00000050215

Gene Name

olfactory receptor family 13 subfamily E member 8

Synonyms

Olfr70, GA_x6K02T2N78B-16239704-16240654, MOR262-10, mOR6

MMRRC Submission

045382-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6976 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43695000-43700807 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 43697170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000060748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055545] [ENSMUST00000107864] [ENSMUST00000107865] [ENSMUST00000107866] [ENSMUST00000167153]

AlphaFold

Q80ZX9

Predicted Effect

probably null
Transcript: ENSMUST00000055545
AA Change: M1T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060748
Gene: ENSMUSG00000050215
AA Change: M1T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	9.6e-51	PFAM
Pfam:7tm_1	41	289	3.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107864

SMART Domains

Protein: ENSMUSP00000103496
Gene: ENSMUSG00000078716

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
EGF	185	221	1.95e1	SMART
Pfam:DUF3522	229	415	2.1e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107865

SMART Domains

Protein: ENSMUSP00000103497
Gene: ENSMUSG00000078716

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
EGF	185	221	1.95e1	SMART
Pfam:DUF3522	229	415	2.1e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107866

SMART Domains

Protein: ENSMUSP00000103498
Gene: ENSMUSG00000078716

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	45	71	N/A	INTRINSIC
low complexity region	87	102	N/A	INTRINSIC
low complexity region	115	137	N/A	INTRINSIC
low complexity region	427	443	N/A	INTRINSIC
EGF	606	642	1.95e1	SMART
Pfam:DUF3522	652	836	1.4e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167153

SMART Domains

Protein: ENSMUSP00000129760
Gene: ENSMUSG00000078716

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
EGF	185	221	1.95e1	SMART
Pfam:DUF3522	229	415	2.1e-70	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,397,929 (GRCm39)		probably null	Het
Adamts4	G	T	1: 171,079,877 (GRCm39)		probably benign	Het
Adgrv1	T	A	13: 81,669,116 (GRCm39)	K2480M	probably damaging	Het
Ankhd1	A	C	18: 36,781,307 (GRCm39)	S2120R	probably benign	Het
Ash1l	T	A	3: 88,888,964 (GRCm39)	V281E	possibly damaging	Het
Bdh1	G	A	16: 31,256,847 (GRCm39)	A35T	probably benign	Het
Brpf3	A	G	17: 29,054,751 (GRCm39)	M1098V	probably damaging	Het
Cel	G	A	2: 28,446,854 (GRCm39)	S439F	probably damaging	Het
Dnah11	T	C	12: 118,162,378 (GRCm39)	S64G	probably benign	Het
Dpp7	T	C	2: 25,244,836 (GRCm39)		probably null	Het
Fam83c	T	A	2: 155,672,157 (GRCm39)	Y426F	possibly damaging	Het
Fasn	A	G	11: 120,710,693 (GRCm39)	I322T	probably damaging	Het
Glod4	A	G	11: 76,134,406 (GRCm39)	F22S	probably damaging	Het
Gm3127	A	G	14: 15,432,190 (GRCm39)	T231A	possibly damaging	Het
Gm49383	A	G	12: 69,243,730 (GRCm39)	S444P	possibly damaging	Het
Gnaz	T	C	10: 74,827,268 (GRCm39)	S7P	possibly damaging	Het
Grin2b	C	T	6: 135,757,198 (GRCm39)	S421N	probably benign	Het
Grm1	T	C	10: 10,564,924 (GRCm39)	D1128G	probably benign	Het
Hoxb13	A	G	11: 96,087,044 (GRCm39)	T284A	probably benign	Het
Il9r	G	A	11: 32,143,177 (GRCm39)	Q260*	probably null	Het
Lrrfip1	T	A	1: 91,042,737 (GRCm39)	C381S	probably benign	Het
Mitd1	A	T	1: 37,921,778 (GRCm39)	D85E	probably benign	Het
Muc4	G	A	16: 32,582,892 (GRCm39)	D2556N	possibly damaging	Het
Nlrc4	A	G	17: 74,752,934 (GRCm39)	I483T	probably damaging	Het
Or2ag17	A	T	7: 106,389,434 (GRCm39)	M258K	probably damaging	Het
Or8g4	A	G	9: 39,662,540 (GRCm39)	N286S	probably damaging	Het
Pcdhb7	C	A	18: 37,476,631 (GRCm39)	A589E	probably benign	Het
Pcdhgb5	G	A	18: 37,864,321 (GRCm39)	E39K	probably damaging	Het
Pja2	T	C	17: 64,615,954 (GRCm39)	K314E	probably damaging	Het
Plcb1	A	G	2: 135,104,159 (GRCm39)	E276G	possibly damaging	Het
Ppp2r5c	A	G	12: 110,510,579 (GRCm39)	E122G	probably damaging	Het
Prrc2c	A	T	1: 162,520,413 (GRCm39)	N732K	probably damaging	Het
Rb1cc1	T	A	1: 6,333,126 (GRCm39)	D1348E	probably benign	Het
Sh3rf1	G	T	8: 61,814,766 (GRCm39)	E442*	probably null	Het
Snapc1	A	G	12: 74,016,974 (GRCm39)	D204G	probably damaging	Het
Sry	C	T	Y: 2,662,938 (GRCm39)	D241N	unknown	Het
Strn4	T	A	7: 16,564,279 (GRCm39)	M303K	probably benign	Het
Tas2r118	A	G	6: 23,969,470 (GRCm39)	I197T	probably benign	Het
Tnni3k	A	G	3: 154,498,413 (GRCm39)	Y809H	probably benign	Het
Tnpo3	A	T	6: 29,572,594 (GRCm39)	C419*	probably null	Het
Trpm6	T	C	19: 18,760,527 (GRCm39)	S143P	probably benign	Het
Ttc23l	A	T	15: 10,537,666 (GRCm39)	C201*	probably null	Het
Ubr4	A	G	4: 139,120,388 (GRCm39)	N271S	probably damaging	Het
Vmn1r70	T	C	7: 10,367,971 (GRCm39)	M134T	probably benign	Het
Vmn2r27	C	T	6: 124,201,312 (GRCm39)	W215*	probably null	Het
Xirp1	A	T	9: 119,846,984 (GRCm39)	M633K	probably damaging	Het
Zfp174	T	C	16: 3,665,804 (GRCm39)	I23T	possibly damaging	Het
Zfp536	T	A	7: 37,179,828 (GRCm39)	S926C	probably damaging	Het
Zfp943	T	C	17: 22,209,922 (GRCm39)	S65P	possibly damaging	Het

Other mutations in Or13e8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0111:Or13e8	UTSW	4	43,696,648 (GRCm39)	missense	probably damaging	0.99
R0501:Or13e8	UTSW	4	43,697,079 (GRCm39)	missense	probably damaging	1.00
R0973:Or13e8	UTSW	4	43,696,706 (GRCm39)	missense	probably damaging	1.00
R0973:Or13e8	UTSW	4	43,696,706 (GRCm39)	missense	probably damaging	1.00
R0974:Or13e8	UTSW	4	43,696,706 (GRCm39)	missense	probably damaging	1.00
R1413:Or13e8	UTSW	4	43,697,011 (GRCm39)	missense	possibly damaging	0.87
R1452:Or13e8	UTSW	4	43,696,823 (GRCm39)	missense	probably benign	0.12
R1574:Or13e8	UTSW	4	43,697,134 (GRCm39)	missense	possibly damaging	0.85
R1574:Or13e8	UTSW	4	43,697,134 (GRCm39)	missense	possibly damaging	0.85
R2159:Or13e8	UTSW	4	43,697,110 (GRCm39)	missense	probably benign	0.01
R3011:Or13e8	UTSW	4	43,696,624 (GRCm39)	missense	probably damaging	1.00
R5493:Or13e8	UTSW	4	43,696,225 (GRCm39)	missense	possibly damaging	0.67
R5651:Or13e8	UTSW	4	43,696,636 (GRCm39)	missense	probably damaging	1.00
R6938:Or13e8	UTSW	4	43,696,286 (GRCm39)	missense	probably damaging	1.00
R7315:Or13e8	UTSW	4	43,696,961 (GRCm39)	missense	probably damaging	1.00
R8912:Or13e8	UTSW	4	43,697,017 (GRCm39)	missense	probably benign	0.19
R9443:Or13e8	UTSW	4	43,696,591 (GRCm39)	missense	probably damaging	1.00
R9780:Or13e8	UTSW	4	43,697,193 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GTACCGCAGATGTCTATGAGAG -3'
(R):5'- TGTGTCGGTAGAACTGCAGG -3'

Sequencing Primer
(F):5'- GAAGTACATGGGGCTGTGC -3'
(R):5'- TCGGTAGAACTGCAGGCTGAG -3'

Posted On

2018-11-28