Mutagenetix > Incidental Mutation

Incidental Mutation 'R4689:Or4e2'

354790

Institutional Source

Beutler Lab

Gene Symbol

Or4e2

Ensembl Gene

ENSMUSG00000035626

Gene Name

olfactory receptor family 4 subfamily E member 2

Synonyms

MOR83, Olfr1509, MOR244-3, GA_x6K02T2RJGY-534312-533386

MMRRC Submission

041940-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

R4689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52687850-52688859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52688671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 267 (I267T)

Ref Sequence

ENSEMBL: ENSMUSP00000150016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045066] [ENSMUST00000205900] [ENSMUST00000206100] [ENSMUST00000206437] [ENSMUST00000206718] [ENSMUST00000215030]

AlphaFold

Q7TQQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000045066
AA Change: I267T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046688
Gene: ENSMUSG00000035626
AA Change: I267T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	1.3e-50	PFAM
Pfam:7TM_GPCR_Srsx	35	301	3.3e-6	PFAM
Pfam:7tm_1	41	287	6.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205900
AA Change: I267T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206100
AA Change: I267T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206437

Predicted Effect

probably benign
Transcript: ENSMUST00000206718

Predicted Effect

probably benign
Transcript: ENSMUST00000215030
AA Change: I267T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.1404

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

97% (72/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,634,996 (GRCm39)	V336L	probably benign	Het
Acbd4	T	C	11: 102,996,194 (GRCm39)	L165P	possibly damaging	Het
Adam10	T	C	9: 70,673,236 (GRCm39)	S456P	possibly damaging	Het
Adgre4	T	C	17: 56,109,096 (GRCm39)	F368L	probably damaging	Het
Ahcyl1	G	T	3: 107,572,834 (GRCm39)	Y528*	probably null	Het
Aldh3b3	G	A	19: 4,014,516 (GRCm39)	V84M	probably damaging	Het
Cdca8	C	T	4: 124,824,896 (GRCm39)	G78E	probably damaging	Het
Cry2	T	C	2: 92,254,899 (GRCm39)	D152G	probably benign	Het
Cyp2c67	T	C	19: 39,627,032 (GRCm39)	Y266C	probably benign	Het
Dkk4	T	C	8: 23,115,336 (GRCm39)	F62S	probably benign	Het
Dnah12	G	A	14: 26,427,994 (GRCm39)	V207I	probably benign	Het
Dthd1	T	C	5: 63,000,255 (GRCm39)	C526R	probably damaging	Het
Dubr	A	T	16: 50,552,866 (GRCm39)		noncoding transcript	Het
F5	T	C	1: 163,979,542 (GRCm39)		probably benign	Het
Flcn	A	C	11: 59,691,870 (GRCm39)	W260G	possibly damaging	Het
Fmnl1	G	A	11: 103,084,562 (GRCm39)		probably null	Het
Frem2	A	T	3: 53,455,056 (GRCm39)	D2173E	probably benign	Het
Fstl4	C	T	11: 52,959,477 (GRCm39)	Q173*	probably null	Het
Gfra3	G	A	18: 34,823,640 (GRCm39)	P381S	unknown	Het
Gm28308	C	A	6: 52,190,291 (GRCm39)		probably benign	Het
Gm8730	T	A	8: 103,592,379 (GRCm39)		noncoding transcript	Het
Gzmd	T	C	14: 56,368,683 (GRCm39)		probably null	Het
Hexb	A	G	13: 97,317,600 (GRCm39)	Y366H	probably damaging	Het
Hydin	A	T	8: 111,322,046 (GRCm39)	H4566L	probably benign	Het
Ifi213	G	A	1: 173,417,986 (GRCm39)	T142I	possibly damaging	Het
Kif13b	T	A	14: 65,010,513 (GRCm39)	C1271S	probably damaging	Het
Krtap9-5	G	T	11: 99,840,286 (GRCm39)	C329F	unknown	Het
Larp1	G	T	11: 57,932,439 (GRCm39)	G207W	probably damaging	Het
Lfng	A	G	5: 140,600,194 (GRCm39)	D368G	probably damaging	Het
Mbd5	G	A	2: 49,148,291 (GRCm39)	V834I	possibly damaging	Het
Mterf1b	T	A	5: 4,247,263 (GRCm39)	Y301*	probably null	Het
Myh7b	T	C	2: 155,472,434 (GRCm39)	I1305T	possibly damaging	Het
Myo16	T	C	8: 10,488,890 (GRCm39)	V687A	probably damaging	Het
Naip2	A	T	13: 100,285,320 (GRCm39)	I1292N	probably damaging	Het
Nmral1	A	G	16: 4,532,422 (GRCm39)	F130L	probably damaging	Het
Nos1	A	G	5: 118,017,450 (GRCm39)	N271S	probably benign	Het
Nrap	A	G	19: 56,374,458 (GRCm39)	S23P	probably damaging	Het
Or12d16-ps1	A	T	17: 37,705,662 (GRCm39)	N77I	probably damaging	Het
Or2aj4	A	T	16: 19,385,263 (GRCm39)	Y123*	probably null	Het
Or6c210	T	C	10: 129,496,185 (GRCm39)	V170A	probably benign	Het
Pkdcc	C	G	17: 83,523,290 (GRCm39)	C132W	probably damaging	Het
Plekhg6	G	A	6: 125,350,144 (GRCm39)	L265F	probably benign	Het
Prkaa1	A	G	15: 5,208,177 (GRCm39)	T473A	probably benign	Het
Prpf3	G	A	3: 95,743,801 (GRCm39)	Q451*	probably null	Het
Psma5-ps	T	A	10: 85,150,065 (GRCm39)		noncoding transcript	Het
Ptprh	T	A	7: 4,600,996 (GRCm39)	D127V	possibly damaging	Het
Rab36	T	C	10: 74,877,765 (GRCm39)		probably null	Het
Rasa1	A	T	13: 85,386,282 (GRCm39)	Y427*	probably null	Het
Rgs11	T	C	17: 26,423,521 (GRCm39)		probably null	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Shank2	G	A	7: 143,974,342 (GRCm39)	V1087I	probably benign	Het
Slc39a10	A	C	1: 46,875,173 (GRCm39)	M43R	probably benign	Het
Slc40a1	T	A	1: 45,951,473 (GRCm39)	Q228L	probably benign	Het
Slc45a1	A	T	4: 150,722,996 (GRCm39)	L296Q	probably benign	Het
Stambpl1	A	G	19: 34,213,691 (GRCm39)	T307A	probably benign	Het
Stt3a	T	C	9: 36,644,225 (GRCm39)	T705A	possibly damaging	Het
Tec	G	A	5: 72,980,980 (GRCm39)		probably benign	Het
Trp63	A	T	16: 25,684,012 (GRCm39)	T300S	possibly damaging	Het
Vmn1r235	A	G	17: 21,482,623 (GRCm39)	H316R	probably benign	Het
Vmn2r1	A	G	3: 64,012,074 (GRCm39)	H645R	possibly damaging	Het
Wdfy4	A	G	14: 32,831,505 (GRCm39)	I907T	possibly damaging	Het
Zcchc10	A	G	11: 53,218,151 (GRCm39)	T33A	probably benign	Het
Zfp318	T	A	17: 46,710,560 (GRCm39)	V761D	probably damaging	Het
Zfp358	T	C	8: 3,546,146 (GRCm39)		probably null	Het
Zfp661	G	A	2: 127,419,468 (GRCm39)	P224L	probably damaging	Het
Zfp937	T	C	2: 150,078,706 (GRCm39)	M33T	probably damaging	Het
Zfp955a	T	C	17: 33,461,040 (GRCm39)	H364R	probably damaging	Het

Other mutations in Or4e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Or4e2	APN	14	52,688,484 (GRCm39)	missense	probably benign	0.00
IGL01694:Or4e2	APN	14	52,688,041 (GRCm39)	missense	probably benign
IGL02656:Or4e2	APN	14	52,688,166 (GRCm39)	missense	possibly damaging	0.60
R0244:Or4e2	UTSW	14	52,687,969 (GRCm39)	missense	probably benign	0.00
R1249:Or4e2	UTSW	14	52,687,979 (GRCm39)	missense	probably benign
R1601:Or4e2	UTSW	14	52,687,899 (GRCm39)	missense	probably benign	0.00
R1717:Or4e2	UTSW	14	52,688,296 (GRCm39)	missense	probably benign	0.00
R1953:Or4e2	UTSW	14	52,688,344 (GRCm39)	missense	probably benign	0.00
R4943:Or4e2	UTSW	14	52,688,051 (GRCm39)	nonsense	probably null
R6223:Or4e2	UTSW	14	52,688,136 (GRCm39)	missense	probably benign	0.00
R6516:Or4e2	UTSW	14	52,688,586 (GRCm39)	missense	probably damaging	1.00
R7323:Or4e2	UTSW	14	52,688,670 (GRCm39)	missense	probably benign	0.00
R7507:Or4e2	UTSW	14	52,687,930 (GRCm39)	missense	probably benign	0.00
R7674:Or4e2	UTSW	14	52,687,899 (GRCm39)	missense	probably benign	0.00
R9010:Or4e2	UTSW	14	52,688,556 (GRCm39)	missense	possibly damaging	0.82
R9505:Or4e2	UTSW	14	52,687,929 (GRCm39)	missense	probably benign
Z1088:Or4e2	UTSW	14	52,688,666 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATAGTGGAACCATCTCCCTCG -3'
(R):5'- CCAGTGTGAAAGGATCAACCATG -3'

Sequencing Primer
(F):5'- GTATGTTTTCTAGCCTTGGTCAC -3'
(R):5'- CTCAGCGTTTAAGAGCACTTG -3'

Posted On

2015-10-21