Mutagenetix > Incidental Mutation

Incidental Mutation 'R5135:Or4e1'

396165

Institutional Source

Beutler Lab

Gene Symbol

Or4e1

Ensembl Gene

ENSMUSG00000057564

Gene Name

olfactory receptor family 4 subfamily E member 1

Synonyms

GA_x6K02T2RJGY-520647-521579, MOR244-4, MOR244-2, Olfr1508, MOR10

MMRRC Submission

043261-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52700178-52704918 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52701311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 52 (I52V)

Ref Sequence

ENSEMBL: ENSMUSP00000145649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000205811] [ENSMUST00000206520]

AlphaFold

Q9R0K4

Predicted Effect

SMART Domains

Protein: ENSMUSP00000107167
Gene: ENSMUSG00000057564
AA Change: I25V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	308	3.9e-48	PFAM
Pfam:7TM_GPCR_Srsx	38	305	1.7e-7	PFAM
Pfam:7tm_1	44	290	1.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205811
AA Change: I25V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000206520
AA Change: I52V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0630

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (82/84)

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
1700056E22Rik	T	C	1: 183,765,703 (GRCm39)	S119G	probably benign	Het
4930553M12Rik	G	T	4: 88,786,508 (GRCm39)	H37N	unknown	Het
Adam10	T	A	9: 70,673,356 (GRCm39)	C496S	probably damaging	Het
Aldh18a1	A	C	19: 40,543,261 (GRCm39)		probably benign	Het
Alox5	A	G	6: 116,390,747 (GRCm39)	F468S	probably benign	Het
Ankrd50	T	C	3: 38,509,952 (GRCm39)	H805R	probably damaging	Het
Ap2s1	T	A	7: 16,481,248 (GRCm39)	D72E	probably damaging	Het
Apaf1	T	C	10: 90,895,956 (GRCm39)	Y372C	probably damaging	Het
Apob	C	T	12: 8,060,086 (GRCm39)	T2823I	probably damaging	Het
Bhmt	A	G	13: 93,763,831 (GRCm39)	V70A	probably damaging	Het
Bltp3b	T	C	10: 89,625,217 (GRCm39)	I48T	probably damaging	Het
Cdc42bpg	T	A	19: 6,370,648 (GRCm39)	L1247H	probably damaging	Het
Cel	A	G	2: 28,449,435 (GRCm39)	V264A	probably benign	Het
Celsr2	T	C	3: 108,305,975 (GRCm39)	N2043S	probably damaging	Het
Clca4a	A	T	3: 144,660,707 (GRCm39)	W706R	probably damaging	Het
Col22a1	G	T	15: 71,671,186 (GRCm39)	P1058Q	unknown	Het
Cyp4a14	A	G	4: 115,347,157 (GRCm39)		probably null	Het
Dhx30	T	G	9: 109,927,863 (GRCm39)	R55S	probably damaging	Het
Dlgap5	C	T	14: 47,637,122 (GRCm39)	R452H	probably damaging	Het
Dnah12	T	A	14: 26,492,434 (GRCm39)	D1191E	probably damaging	Het
Dock3	A	T	9: 106,810,196 (GRCm39)	I164N	probably damaging	Het
Edrf1	T	A	7: 133,252,773 (GRCm39)	M436K	probably benign	Het
Eif2ak2	T	A	17: 79,173,774 (GRCm39)	Y268F	probably damaging	Het
Evi2a	G	A	11: 79,418,277 (GRCm39)	T111M	possibly damaging	Het
Fzd4	A	G	7: 89,056,709 (GRCm39)	E252G	probably damaging	Het
Gcm2	A	G	13: 41,256,435 (GRCm39)	V438A	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm4846	T	C	1: 166,311,551 (GRCm39)	D436G	probably damaging	Het
Gm5414	T	A	15: 101,536,203 (GRCm39)	I141F	probably damaging	Het
Gm6185	T	A	1: 161,025,801 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,750,897 (GRCm39)	E776G	possibly damaging	Het
H2-Ob	T	A	17: 34,462,490 (GRCm39)	V160E	probably benign	Het
Hormad1	T	C	3: 95,492,531 (GRCm39)		probably benign	Het
Ighv2-1	A	T	12: 113,538,082 (GRCm39)		probably benign	Het
Igkv4-92	A	T	6: 68,732,538 (GRCm39)	C14S	probably benign	Het
Iqsec3	T	C	6: 121,360,878 (GRCm39)	I993M	probably damaging	Het
Kdm5b	T	A	1: 134,516,484 (GRCm39)		probably benign	Het
Kitl	T	C	10: 99,924,084 (GRCm39)		probably null	Het
Klhl26	G	T	8: 70,905,368 (GRCm39)	R100S	probably benign	Het
Kpna4	C	T	3: 69,000,142 (GRCm39)		probably null	Het
Lama5	T	A	2: 179,844,013 (GRCm39)	N383Y	possibly damaging	Het
Large1	T	G	8: 73,544,724 (GRCm39)	I685L	probably benign	Het
Larp4b	A	G	13: 9,220,773 (GRCm39)	E590G	probably damaging	Het
Liph	A	T	16: 21,774,915 (GRCm39)	C425*	probably null	Het
Lrrc31	A	T	3: 30,739,039 (GRCm39)	C327*	probably null	Het
Lrrc36	T	C	8: 106,190,530 (GRCm39)	V733A	probably benign	Het
Mmel1	T	A	4: 154,966,781 (GRCm39)	I83K	probably benign	Het
Myo16	G	T	8: 10,526,114 (GRCm39)	V885L	probably benign	Het
Naip2	A	T	13: 100,315,948 (GRCm39)	N277K	probably damaging	Het
Ncapg2	T	A	12: 116,391,406 (GRCm39)	I485N	possibly damaging	Het
Npc1l1	A	T	11: 6,174,245 (GRCm39)	Y687N	possibly damaging	Het
Obscn	A	T	11: 59,020,479 (GRCm39)	V922E	probably damaging	Het
Oc90	A	G	15: 65,755,679 (GRCm39)	S223P	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4a80	A	T	2: 89,582,239 (GRCm39)	L311H	possibly damaging	Het
Pakap	G	T	4: 57,855,912 (GRCm39)	A414S	probably benign	Het
Pdlim5	C	T	3: 142,010,126 (GRCm39)	R174H	probably benign	Het
Pex5l	G	T	3: 33,009,980 (GRCm39)	A386E	probably damaging	Het
Plcxd1	T	A	5: 110,249,229 (GRCm39)		probably benign	Het
Pramel12	T	G	4: 143,145,579 (GRCm39)	S349R	probably benign	Het
Prl8a1	A	T	13: 27,763,802 (GRCm39)		probably null	Het
Ryr2	G	T	13: 11,677,016 (GRCm39)	N3278K	probably benign	Het
Sacm1l	A	G	9: 123,406,090 (GRCm39)	M324V	probably benign	Het
Sdad1	T	C	5: 92,451,793 (GRCm39)	T143A	probably benign	Het
Sec11a	A	T	7: 80,572,812 (GRCm39)		probably benign	Het
Sema6a	A	G	18: 47,424,239 (GRCm39)	V223A	probably damaging	Het
Serpinb6c	A	G	13: 34,064,080 (GRCm39)	V325A	probably damaging	Het
Slc4a2	G	A	5: 24,635,125 (GRCm39)	A177T	possibly damaging	Het
Slc5a4a	A	G	10: 75,983,428 (GRCm39)	N22D	unknown	Het
Stard13	C	T	5: 150,986,232 (GRCm39)	W308*	probably null	Het
Tanc2	C	T	11: 105,748,379 (GRCm39)	L504F	possibly damaging	Het
Tfap2e	G	T	4: 126,614,337 (GRCm39)	N282K	probably damaging	Het
Usp36	G	T	11: 118,155,731 (GRCm39)	T682K	possibly damaging	Het
Zc3h11a	T	C	1: 133,561,527 (GRCm39)	T315A	probably benign	Het
Zfa-ps	T	A	10: 52,419,118 (GRCm39)		noncoding transcript	Het
Zfp1002	A	T	2: 150,097,410 (GRCm39)	Y34*	probably null	Het
Zfp663	A	T	2: 165,195,590 (GRCm39)	C210S	possibly damaging	Het
Zfp747	T	C	7: 126,973,566 (GRCm39)	I201M	probably damaging	Het
Zic4	C	T	9: 91,266,205 (GRCm39)	T276M	probably damaging	Het

Other mutations in Or4e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01596:Or4e1	APN	14	52,700,822 (GRCm39)	missense	probably damaging	0.98
IGL02601:Or4e1	APN	14	52,700,802 (GRCm39)	nonsense	probably null
IGL02635:Or4e1	APN	14	52,701,251 (GRCm39)	missense	probably damaging	1.00
R0139:Or4e1	UTSW	14	52,700,669 (GRCm39)	missense	probably damaging	0.98
R0501:Or4e1	UTSW	14	52,701,383 (GRCm39)	start codon destroyed	possibly damaging	0.79
R0600:Or4e1	UTSW	14	52,700,966 (GRCm39)	missense	probably benign	0.00
R0612:Or4e1	UTSW	14	52,701,008 (GRCm39)	missense	probably benign	0.00
R1691:Or4e1	UTSW	14	52,701,288 (GRCm39)	missense	possibly damaging	0.95
R4290:Or4e1	UTSW	14	52,701,442 (GRCm39)	missense	probably damaging	1.00
R4837:Or4e1	UTSW	14	52,701,103 (GRCm39)	missense	probably damaging	1.00
R4946:Or4e1	UTSW	14	52,700,740 (GRCm39)	missense	probably damaging	1.00
R5073:Or4e1	UTSW	14	52,701,032 (GRCm39)	missense	probably damaging	1.00
R5384:Or4e1	UTSW	14	52,700,714 (GRCm39)	missense	probably benign	0.41
R5663:Or4e1	UTSW	14	52,701,052 (GRCm39)	missense	probably benign	0.12
R5861:Or4e1	UTSW	14	52,700,953 (GRCm39)	missense	probably damaging	1.00
R6244:Or4e1	UTSW	14	52,701,352 (GRCm39)	missense	probably damaging	1.00
R7040:Or4e1	UTSW	14	52,700,932 (GRCm39)	missense	possibly damaging	0.88
R7216:Or4e1	UTSW	14	52,700,945 (GRCm39)	missense	probably damaging	1.00
R7560:Or4e1	UTSW	14	52,700,851 (GRCm39)	missense	probably damaging	1.00
R8310:Or4e1	UTSW	14	52,701,280 (GRCm39)	missense	probably damaging	1.00
R8691:Or4e1	UTSW	14	52,701,358 (GRCm39)	missense	possibly damaging	0.46
R8942:Or4e1	UTSW	14	52,700,692 (GRCm39)	missense	probably damaging	0.98
R9185:Or4e1	UTSW	14	52,700,984 (GRCm39)	missense	probably benign	0.33
R9218:Or4e1	UTSW	14	52,700,788 (GRCm39)	missense	probably damaging	0.97
R9516:Or4e1	UTSW	14	52,700,873 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCAGGAAGAACATCTGGACC -3'
(R):5'- AGGGACCAAATGATTGATGTACATG -3'

Sequencing Primer
(F):5'- TCTGGACCACACAGGCATC -3'
(R):5'- TCGGCTCACAGGTTTATC -3'

Posted On

2016-06-21