Mutagenetix > Incidental Mutation

Incidental Mutation 'R6035:Or1e1'

486521

Institutional Source

Beutler Lab

Gene Symbol

Or1e1

Ensembl Gene

ENSMUSG00000062128

Gene Name

olfactory receptor family 1 subfamily E member 1

Synonyms

MTPCR06, MOR135-11, Olfr20, Olfr21, MTPCR55, GA_x6K02T2P1NL-3514066-3515010

MMRRC Submission

044207-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R6035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73241685-73245525 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 73244582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000114110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108465] [ENSMUST00000117445] [ENSMUST00000120137]

AlphaFold

Q7TRX9

Predicted Effect

probably null
Transcript: ENSMUST00000108465
AA Change: M1T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104105
Gene: ENSMUSG00000062128
AA Change: M1T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	7.9e-60	PFAM
Pfam:7TM_GPCR_Srsx	35	305	7.8e-8	PFAM
Pfam:7tm_1	41	290	1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117445

Predicted Effect

probably null
Transcript: ENSMUST00000120137
AA Change: M1T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114110
Gene: ENSMUSG00000062128
AA Change: M1T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.3e-61	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.5e-6	PFAM
Pfam:7tm_1	41	290	2.2e-26	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

84% (62/74)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,615,353 (GRCm39)	G76W	probably damaging	Het
Abca17	A	T	17: 24,500,219 (GRCm39)	F1324Y	possibly damaging	Het
Abca8b	A	T	11: 109,862,686 (GRCm39)		probably null	Het
Abcc12	A	G	8: 87,244,033 (GRCm39)	M1040T	probably damaging	Het
Abtb1	A	G	6: 88,818,788 (GRCm39)	F7L	probably damaging	Het
Adcy9	T	C	16: 4,122,377 (GRCm39)	T558A	probably benign	Het
Adgrb1	A	T	15: 74,412,292 (GRCm39)	T424S	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankrd31	C	A	13: 96,968,721 (GRCm39)	P786Q	probably benign	Het
Arhgap39	G	T	15: 76,621,424 (GRCm39)	Y392*	probably null	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Carmil2	G	T	8: 106,419,195 (GRCm39)	W749L	probably benign	Het
Ccar1	A	G	10: 62,587,564 (GRCm39)	Y867H	unknown	Het
Cdh13	A	G	8: 119,232,437 (GRCm39)	D47G	probably benign	Het
Chst9	T	A	18: 15,585,910 (GRCm39)	T218S	probably benign	Het
Clec2i	G	A	6: 128,870,587 (GRCm39)	V67I	probably benign	Het
Cox7a2	T	A	9: 79,667,028 (GRCm39)		probably benign	Het
Cplx3	A	G	9: 57,519,030 (GRCm39)		probably null	Het
Cpz	A	G	5: 35,674,929 (GRCm39)	C107R	probably damaging	Het
Dapk1	T	A	13: 60,909,013 (GRCm39)	C1209S	possibly damaging	Het
Ddx41	T	C	13: 55,681,781 (GRCm39)	M307V	probably benign	Het
Defa24	A	G	8: 22,224,565 (GRCm39)	I5V	probably benign	Het
Dgcr8	A	T	16: 18,076,178 (GRCm39)	N2K	probably damaging	Het
Ebf2	A	G	14: 67,476,423 (GRCm39)	D131G	probably damaging	Het
Fam149b	C	T	14: 20,427,985 (GRCm39)	R424C	probably damaging	Het
Fbln2	G	A	6: 91,240,335 (GRCm39)	V714M	probably damaging	Het
Fgf5	T	C	5: 98,423,385 (GRCm39)	Y257H	probably damaging	Het
Fmo3	A	C	1: 162,791,605 (GRCm39)	V224G	probably damaging	Het
Gigyf2	T	C	1: 87,338,450 (GRCm39)	I394T	possibly damaging	Het
Glmn	T	A	5: 107,741,746 (GRCm39)		probably null	Het
Greb1l	T	C	18: 10,501,025 (GRCm39)	I385T	possibly damaging	Het
Grhl1	C	A	12: 24,658,449 (GRCm39)	Q365K	probably benign	Het
Gsdme	G	A	6: 50,206,306 (GRCm39)	T179M	probably damaging	Het
Gtf2a1l	A	G	17: 89,018,962 (GRCm39)	T349A	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Il5ra	G	A	6: 106,718,226 (GRCm39)	T76I	probably damaging	Het
Itga8	T	C	2: 12,196,525 (GRCm39)	T631A	probably benign	Het
Kcnh6	G	A	11: 105,909,978 (GRCm39)		probably null	Het
Krt26	C	T	11: 99,224,415 (GRCm39)	E368K	probably benign	Het
Lhx9	T	C	1: 138,766,281 (GRCm39)	D169G	possibly damaging	Het
Lmod3	A	G	6: 97,224,234 (GRCm39)	L529P	probably damaging	Het
Nup155	A	G	15: 8,173,577 (GRCm39)	T891A	probably benign	Het
Or11g24	A	G	14: 50,661,984 (GRCm39)	T3A	probably benign	Het
Or1j13	T	A	2: 36,369,996 (GRCm39)	I49F	probably damaging	Het
Or1p4-ps1	T	C	11: 74,208,285 (GRCm39)	*145R	probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Papln	G	C	12: 83,821,454 (GRCm39)	G262A	probably damaging	Het
Pdcd1lg2	G	A	19: 29,423,435 (GRCm39)	V160I	probably benign	Het
Pde8b	A	G	13: 95,164,105 (GRCm39)		probably benign	Het
Ppme1	G	A	7: 100,004,002 (GRCm39)	R68*	probably null	Het
Prob1	T	C	18: 35,787,835 (GRCm39)	S140G	probably benign	Het
Ptprn2	A	T	12: 117,219,215 (GRCm39)	N949Y	probably damaging	Het
Qser1	C	A	2: 104,617,468 (GRCm39)	D1115Y	probably damaging	Het
Rad54l	G	T	4: 115,954,666 (GRCm39)	D674E	probably damaging	Het
Ripk4	T	A	16: 97,545,387 (GRCm39)	D420V	probably damaging	Het
Ros1	G	T	10: 51,954,067 (GRCm39)	S1857R	probably benign	Het
Rsf1	A	G	7: 97,311,316 (GRCm39)	E682G	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Samd4	G	A	14: 47,325,329 (GRCm39)	R515H	probably damaging	Het
Selp	T	A	1: 163,969,079 (GRCm39)	W560R	probably benign	Het
Shc3	A	T	13: 51,615,468 (GRCm39)	L163Q	probably damaging	Het
Shh	G	A	5: 28,666,397 (GRCm39)	A163V	probably damaging	Het
Slc17a8	T	C	10: 89,427,937 (GRCm39)	R113G	possibly damaging	Het
Slc5a6	C	A	5: 31,206,168 (GRCm39)		probably benign	Het
Smarcd2	A	G	11: 106,157,715 (GRCm39)		probably null	Het
Sytl3	A	G	17: 6,995,664 (GRCm39)	D148G	probably damaging	Het
Tnks	G	T	8: 35,385,615 (GRCm39)	H297Q	possibly damaging	Het
Trbv21	A	T	6: 41,179,568 (GRCm39)		probably benign	Het
Ube3c	T	C	5: 29,806,161 (GRCm39)	F268L	probably benign	Het
Ugt2b5	T	C	5: 87,287,541 (GRCm39)	I209V	probably benign	Het
Usp1	A	G	4: 98,818,082 (GRCm39)	N140S	probably damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn1r129	T	A	7: 21,094,534 (GRCm39)	Q228L	probably damaging	Het
Vmn1r209	T	A	13: 22,990,202 (GRCm39)	N163Y	probably benign	Het
Vmn1r85	A	G	7: 12,818,854 (GRCm39)	S97P	probably damaging	Het
Vmn2r30	C	T	7: 7,337,350 (GRCm39)	M95I	probably benign	Het
Vmn2r74	G	A	7: 85,601,098 (GRCm39)	R847C	probably damaging	Het
Wdr70	G	A	15: 7,916,830 (GRCm39)	T529I	possibly damaging	Het
Zfp532	T	G	18: 65,757,005 (GRCm39)	S313A	possibly damaging	Het
Zhx3	A	T	2: 160,621,463 (GRCm39)	N901K	probably benign	Het

Other mutations in Or1e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Or1e1	APN	11	73,244,869 (GRCm39)	missense	probably damaging	1.00
IGL02163:Or1e1	APN	11	73,245,320 (GRCm39)	missense	probably damaging	1.00
R0598:Or1e1	UTSW	11	73,244,729 (GRCm39)	missense	probably benign
R1348:Or1e1	UTSW	11	73,244,682 (GRCm39)	missense	probably benign	0.02
R2006:Or1e1	UTSW	11	73,245,518 (GRCm39)	missense	probably benign
R2085:Or1e1	UTSW	11	73,245,247 (GRCm39)	missense	possibly damaging	0.95
R2263:Or1e1	UTSW	11	73,245,131 (GRCm39)	missense	possibly damaging	0.89
R3421:Or1e1	UTSW	11	73,245,460 (GRCm39)	missense	probably damaging	1.00
R3422:Or1e1	UTSW	11	73,245,460 (GRCm39)	missense	probably damaging	1.00
R4229:Or1e1	UTSW	11	73,245,058 (GRCm39)	missense	probably damaging	1.00
R4749:Or1e1	UTSW	11	73,245,322 (GRCm39)	missense	probably damaging	1.00
R5410:Or1e1	UTSW	11	73,244,632 (GRCm39)	missense	probably benign	0.11
R6035:Or1e1	UTSW	11	73,244,582 (GRCm39)	start codon destroyed	probably null	1.00
R6499:Or1e1	UTSW	11	73,245,011 (GRCm39)	missense	probably damaging	1.00
R7840:Or1e1	UTSW	11	73,244,585 (GRCm39)	missense	probably benign
R7959:Or1e1	UTSW	11	73,244,744 (GRCm39)	missense	probably damaging	1.00
R8186:Or1e1	UTSW	11	73,245,247 (GRCm39)	missense	possibly damaging	0.95
R9072:Or1e1	UTSW	11	73,244,797 (GRCm39)	missense	probably damaging	1.00
R9135:Or1e1	UTSW	11	73,245,316 (GRCm39)	missense	probably damaging	0.99
R9225:Or1e1	UTSW	11	73,244,595 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGTGACTGCTTAAGGTAGG -3'
(R):5'- ACAAGTACATGGGTGTGTGG -3'

Sequencing Primer
(F):5'- CACCTGGTCTACAAAGGGAGTTC -3'
(R):5'- CAAGTACATGGGTGTGTGGAGATG -3'

Posted On

2017-08-16