Mutagenetix > Incidental Mutation

Incidental Mutation 'R2038:Or1e25'

225335

Institutional Source

Beutler Lab

Gene Symbol

Or1e25

Ensembl Gene

ENSMUSG00000060335

Gene Name

olfactory receptor family 1 subfamily E member 25

Synonyms

GA_x6K02T2P1NL-3739520-3740032, Olfr384, Olfr386, GA_x6K02T2P1NL-3773152-3774090, MOR135-5

MMRRC Submission

040045-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

R2038 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73493408-73494346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73494239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 278 (Y278N)

Ref Sequence

ENSEMBL: ENSMUSP00000148997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072993] [ENSMUST00000214228]

AlphaFold

Q7TRX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000072993
AA Change: Y278N

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

SMART Domains

Protein: ENSMUSP00000072758
Gene: ENSMUSG00000060335
AA Change: Y278N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.5e-60	PFAM
Pfam:7TM_GPCR_Srsx	35	305	5.6e-9	PFAM
Pfam:7tm_1	41	290	1.4e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214228
AA Change: Y278N

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,389,762 (GRCm39)	Y54C	probably damaging	Het
Adgrf4	A	T	17: 42,978,754 (GRCm39)	H196Q	probably damaging	Het
Astn1	T	G	1: 158,484,690 (GRCm39)	S918A	probably benign	Het
Cd79a	A	T	7: 24,598,782 (GRCm39)	K110N	probably benign	Het
Cdc34b	C	T	11: 94,633,114 (GRCm39)	Q105*	probably null	Het
Cdh23	T	C	10: 60,148,366 (GRCm39)	D2667G	probably damaging	Het
Clpx	G	A	9: 65,224,775 (GRCm39)	G168R	probably damaging	Het
Col8a2	T	C	4: 126,205,108 (GRCm39)		probably benign	Het
Ddx27	G	A	2: 166,875,675 (GRCm39)	E669K	probably damaging	Het
Dnah8	A	T	17: 30,977,255 (GRCm39)	I2898F	probably damaging	Het
Dus2	T	C	8: 106,775,294 (GRCm39)	Y274H	probably damaging	Het
Dync2h1	A	G	9: 6,967,226 (GRCm39)	S4073P	probably damaging	Het
Dynlrb2	G	A	8: 117,241,549 (GRCm39)	R31Q	possibly damaging	Het
Esyt1	C	T	10: 128,347,820 (GRCm39)	V957I	probably benign	Het
Fhdc1	A	T	3: 84,351,868 (GRCm39)	L1119Q	probably benign	Het
H2-T10	T	C	17: 36,430,317 (GRCm39)	K212E	probably benign	Het
H60b	A	T	10: 22,162,114 (GRCm39)	N113I	probably benign	Het
Hace1	A	C	10: 45,576,721 (GRCm39)	K798Q	probably benign	Het
Hdac7	C	T	15: 97,696,151 (GRCm39)	R631H	probably damaging	Het
Kat7	T	A	11: 95,190,928 (GRCm39)	I153F	probably benign	Het
Lman1	T	C	18: 66,131,681 (GRCm39)	T101A	probably benign	Het
Mapk8	A	T	14: 33,110,893 (GRCm39)	C245*	probably null	Het
Mfhas1	T	A	8: 36,058,431 (GRCm39)	W969R	probably damaging	Het
Mlxipl	A	T	5: 135,135,853 (GRCm39)	D26V	probably damaging	Het
Msh5	A	G	17: 35,265,016 (GRCm39)	V53A	probably benign	Het
Msl2	C	A	9: 100,979,183 (GRCm39)	A519D	probably damaging	Het
Nbeal1	A	G	1: 60,245,503 (GRCm39)	S176G	probably benign	Het
Ninl	T	A	2: 150,817,763 (GRCm39)	K134*	probably null	Het
Or10d1	A	G	9: 39,484,283 (GRCm39)	S91P	probably damaging	Het
Or4a68	C	A	2: 89,269,689 (GRCm39)	M311I	probably benign	Het
Pabpn1	T	G	14: 55,134,609 (GRCm39)	I250S	probably damaging	Het
Ppp4r4	G	A	12: 103,542,539 (GRCm39)		probably null	Het
Rad51ap2	T	C	12: 11,507,025 (GRCm39)	S316P	possibly damaging	Het
Scn7a	C	A	2: 66,567,780 (GRCm39)	W271C	probably damaging	Het
Set	T	C	2: 29,960,212 (GRCm39)	S182P	probably benign	Het
Sez6l	T	C	5: 112,620,618 (GRCm39)	T321A	possibly damaging	Het
Sfpq	A	T	4: 126,915,295 (GRCm39)	H29L	unknown	Het
Slc33a1	A	G	3: 63,855,577 (GRCm39)	L356P	probably damaging	Het
Sptbn1	C	G	11: 30,109,293 (GRCm39)		probably null	Het
Srrd	C	T	5: 112,486,316 (GRCm39)	G179D	probably benign	Het
Taf4b	T	C	18: 14,940,456 (GRCm39)	S312P	probably damaging	Het
Tgfbrap1	A	T	1: 43,093,794 (GRCm39)	L566*	probably null	Het
Tln2	T	A	9: 67,304,935 (GRCm39)	M1L	probably benign	Het
Ttc27	T	C	17: 75,163,497 (GRCm39)	F702L	probably benign	Het
Vmn2r54	C	T	7: 12,363,637 (GRCm39)	G419R	possibly damaging	Het
Vps13b	A	G	15: 35,884,887 (GRCm39)	S3187G	probably damaging	Het
Vps13d	C	A	4: 144,907,685 (GRCm39)		probably null	Het
Vps35l	T	C	7: 118,411,097 (GRCm39)	F677L	probably damaging	Het
Zfp568	A	T	7: 29,688,507 (GRCm39)	E23V	probably null	Het

Other mutations in Or1e25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01476:Or1e25	APN	11	73,494,056 (GRCm39)	missense	probably damaging	1.00
IGL01767:Or1e25	APN	11	73,493,858 (GRCm39)	missense	probably benign
IGL02296:Or1e25	APN	11	73,493,532 (GRCm39)	missense	probably damaging	1.00
IGL02327:Or1e25	APN	11	73,493,981 (GRCm39)	missense	probably damaging	1.00
IGL02740:Or1e25	APN	11	73,493,657 (GRCm39)	missense	probably benign	0.41
H8562:Or1e25	UTSW	11	73,494,273 (GRCm39)	missense	probably damaging	1.00
R0594:Or1e25	UTSW	11	73,494,218 (GRCm39)	missense	probably benign	0.03
R2127:Or1e25	UTSW	11	73,493,631 (GRCm39)	missense	possibly damaging	0.78
R2844:Or1e25	UTSW	11	73,494,209 (GRCm39)	missense	probably benign	0.12
R2846:Or1e25	UTSW	11	73,494,209 (GRCm39)	missense	probably benign	0.12
R3877:Or1e25	UTSW	11	73,493,979 (GRCm39)	missense	probably damaging	1.00
R4193:Or1e25	UTSW	11	73,494,243 (GRCm39)	missense	probably damaging	1.00
R4433:Or1e25	UTSW	11	73,493,712 (GRCm39)	missense	probably damaging	1.00
R4824:Or1e25	UTSW	11	73,493,426 (GRCm39)	missense	possibly damaging	0.61
R4851:Or1e25	UTSW	11	73,493,883 (GRCm39)	missense	probably damaging	1.00
R5285:Or1e25	UTSW	11	73,493,767 (GRCm39)	nonsense	probably null
R5326:Or1e25	UTSW	11	73,494,030 (GRCm39)	missense	possibly damaging	0.94
R5542:Or1e25	UTSW	11	73,494,030 (GRCm39)	missense	possibly damaging	0.94
R5662:Or1e25	UTSW	11	73,494,005 (GRCm39)	missense	probably benign	0.03
R6489:Or1e25	UTSW	11	73,494,265 (GRCm39)	missense	probably damaging	1.00
R6770:Or1e25	UTSW	11	73,493,804 (GRCm39)	missense	probably benign	0.04
R7131:Or1e25	UTSW	11	73,493,562 (GRCm39)	missense	possibly damaging	0.78
R7313:Or1e25	UTSW	11	73,493,810 (GRCm39)	missense	probably damaging	0.99
R7754:Or1e25	UTSW	11	73,494,332 (GRCm39)	nonsense	probably null
R8393:Or1e25	UTSW	11	73,494,261 (GRCm39)	missense	probably damaging	1.00
R9190:Or1e25	UTSW	11	73,493,877 (GRCm39)	missense	probably benign	0.36
R9628:Or1e25	UTSW	11	73,493,864 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTGTGGTGCCATTCTTACTCATTG -3'
(R):5'- ACTCAGTGTATCTTATTGCAGGG -3'

Sequencing Primer
(F):5'- TGTTTCCTATGTACAAATTGTCTGC -3'
(R):5'- TGTATCTTATTGCAGGGATACATTTG -3'

Posted On

2014-08-25