Mutagenetix > Incidental Mutation

Incidental Mutation 'R5651:Or13e8'

441416

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

043297-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5651 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43695000-43700807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 43696636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 179 (C179S)

Ref Sequence

ENSEMBL: ENSMUSP00000060748 (fasta)

Gene Model

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

AlphaFold

Q80ZX9

Predicted Effect

probably damaging
Transcript: ENSMUST00000055545
AA Change: C179S

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

SMART Domains

Protein: ENSMUSP00000060748
Gene: ENSMUSG00000050215
AA Change: C179S

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

noncoding transcript
Transcript: ENSMUST00000158322

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	A	11: 48,910,700 (GRCm39)	H578Y	probably damaging	Het
Atp11b	A	G	3: 35,909,289 (GRCm39)	D1161G	probably damaging	Het
Atp8b1	G	C	18: 64,664,453 (GRCm39)	I1238M	probably benign	Het
AY358078	T	A	14: 52,059,617 (GRCm39)	V318D	unknown	Het
B020004C17Rik	C	T	14: 57,252,689 (GRCm39)		probably benign	Het
Boc	T	A	16: 44,341,558 (GRCm39)	I16F	probably benign	Het
Brinp3	A	T	1: 146,577,537 (GRCm39)	T191S	probably benign	Het
Cald1	T	A	6: 34,739,255 (GRCm39)	N419K	probably damaging	Het
Cecr2	G	A	6: 120,732,521 (GRCm39)	G471D	probably damaging	Het
Cftr	T	A	6: 18,255,364 (GRCm39)		probably null	Het
Cyp2c38	T	A	19: 39,449,156 (GRCm39)	T66S	probably damaging	Het
Fbxo11	A	T	17: 88,323,136 (GRCm39)	D83E	probably benign	Het
Fshr	T	A	17: 89,293,257 (GRCm39)	M474L	possibly damaging	Het
Hhla1	T	A	15: 65,813,663 (GRCm39)	E223V	probably damaging	Het
Hnrnpa1	G	C	15: 103,148,955 (GRCm39)	E5D	possibly damaging	Het
Htr2a	T	A	14: 74,943,143 (GRCm39)	V241E	probably damaging	Het
Ier5	T	C	1: 154,974,491 (GRCm39)	E229G	possibly damaging	Het
Inka2	C	A	3: 105,623,748 (GRCm39)	Q22K	probably damaging	Het
Krt87	A	T	15: 101,331,910 (GRCm39)	M276K	possibly damaging	Het
Mast1	G	C	8: 85,655,597 (GRCm39)	Y182*	probably null	Het
Mia3	T	A	1: 183,139,998 (GRCm39)	D239V	probably damaging	Het
Mmut	T	A	17: 41,258,002 (GRCm39)	D389E	probably damaging	Het
Mpp7	A	G	18: 7,355,016 (GRCm39)		probably null	Het
Mycbp2	A	G	14: 103,520,101 (GRCm39)	C739R	probably null	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or8k21	A	G	2: 86,144,784 (GRCm39)	I282T	probably benign	Het
Or9e1	A	T	11: 58,732,317 (GRCm39)	R126*	probably null	Het
Palld	A	T	8: 61,991,822 (GRCm39)	I510N	probably damaging	Het
Pappa	A	G	4: 65,074,589 (GRCm39)	E381G	probably damaging	Het
Phldb1	G	A	9: 44,623,200 (GRCm39)	T618I	probably damaging	Het
Pkd1	A	G	17: 24,810,361 (GRCm39)	E3631G	possibly damaging	Het
Pkhd1	C	T	1: 20,188,031 (GRCm39)	V3426I	probably benign	Het
Plk4	A	G	3: 40,767,940 (GRCm39)	T828A	probably benign	Het
Psmb5	C	T	14: 54,854,221 (GRCm39)	A86T	possibly damaging	Het
Rasal2	A	G	1: 156,984,951 (GRCm39)	V907A	probably damaging	Het
Rxra	C	T	2: 27,627,353 (GRCm39)	T24M	probably benign	Het
Senp1	A	G	15: 97,974,498 (GRCm39)	S105P	probably benign	Het
Sh3rf1	A	G	8: 61,816,201 (GRCm39)	D486G	probably damaging	Het
Slc49a4	G	A	16: 35,555,986 (GRCm39)	A158V	probably benign	Het
Slfn5	A	C	11: 82,851,490 (GRCm39)	N596H	probably benign	Het
Tanc2	T	A	11: 105,689,526 (GRCm39)	D229E	probably benign	Het
Taok2	T	C	7: 126,479,455 (GRCm39)	K57E	probably damaging	Het
Thsd7a	C	T	6: 12,343,212 (GRCm39)	C1135Y	probably damaging	Het
V1ra8	T	C	6: 90,180,508 (GRCm39)	L237P	probably benign	Het
Vcpip1	G	A	1: 9,818,065 (GRCm39)	T106M	probably damaging	Het
Vmn1r215	T	G	13: 23,259,981 (GRCm39)	I7S	possibly damaging	Het
Vmn1r233	T	A	17: 21,214,279 (GRCm39)	M224L	probably benign	Het
Xpot	A	T	10: 121,440,454 (GRCm39)	D592E	probably 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
R6938:Or13e8	UTSW	4	43,696,286 (GRCm39)	missense	probably damaging	1.00
R6976:Or13e8	UTSW	4	43,697,170 (GRCm39)	start codon destroyed	probably null	0.99
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'- GATGGTTCCATAGAAAATCACCAC -3'
(R):5'- TGATGGCATACGACCGGTAC -3'

Sequencing Primer
(F):5'- AGGTGGAGAAGGCCTTGCTC -3'
(R):5'- TACGTGGCCATCTGTCAGC -3'

Posted On

2016-11-08