Mutagenetix > Incidental Mutation

Incidental Mutation 'R4239:Or13a25'

321264

Institutional Source

Beutler Lab

Gene Symbol

Or13a25

Ensembl Gene

ENSMUSG00000059136

Gene Name

olfactory receptor family 13 subfamily A member 25

Synonyms

GA_x6K02T2PBJ9-42813436-42814368, Olfr539, MOR253-4

MMRRC Submission

041056-MU

Accession Numbers

Essential gene?

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

Stock #

R4239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140247202-140248161 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140247496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 99 (N99D)

Ref Sequence

ENSEMBL: ENSMUSP00000077990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078967] [ENSMUST00000210973] [ENSMUST00000218865]

AlphaFold

Q8VGL9

Predicted Effect

probably benign
Transcript: ENSMUST00000078967
AA Change: N99D

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000077990
Gene: ENSMUSG00000059136
AA Change: N99D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	40	316	6.5e-50	PFAM
Pfam:7tm_1	50	299	4.9e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210973
AA Change: N92D

Predicted Effect

probably benign
Transcript: ENSMUST00000218865
AA Change: N92D

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219853

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (55/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,888,126 (GRCm39)	D397G	probably benign	Het
Alpk2	T	A	18: 65,433,212 (GRCm39)	I1765F	probably damaging	Het
Ano5	T	A	7: 51,237,414 (GRCm39)	I696N	probably damaging	Het
Areg	A	T	5: 91,291,375 (GRCm39)	N106I	probably damaging	Het
Atad2b	A	G	12: 5,035,710 (GRCm39)	N759D	probably benign	Het
B4galnt4	T	C	7: 140,641,239 (GRCm39)	L18P	probably damaging	Het
Boc	T	C	16: 44,312,247 (GRCm39)	D605G	probably damaging	Het
Cfap46	G	T	7: 139,246,203 (GRCm39)	Q387K	possibly damaging	Het
Cfap74	C	A	4: 155,547,529 (GRCm39)	H1238Q	probably benign	Het
Clip2	A	G	5: 134,564,051 (GRCm39)		probably benign	Het
Cog4	T	C	8: 111,585,244 (GRCm39)	I303T	probably damaging	Het
Col18a1	C	T	10: 76,932,001 (GRCm39)	V363I	unknown	Het
Crip3	A	T	17: 46,742,156 (GRCm39)	K184*	probably null	Het
Ddi1	A	G	9: 6,265,799 (GRCm39)	M190T	probably benign	Het
Dnah3	G	A	7: 119,628,248 (GRCm39)	Q1459*	probably null	Het
Dpp8	A	G	9: 64,962,205 (GRCm39)	D415G	probably benign	Het
Ehhadh	T	G	16: 21,581,438 (GRCm39)	D518A	probably damaging	Het
Erbb2	A	G	11: 98,318,869 (GRCm39)	K549R	probably benign	Het
Fbxl3	G	A	14: 103,326,854 (GRCm39)	S176L	probably damaging	Het
Gm1979	T	C	5: 26,206,119 (GRCm39)	T154A	probably benign	Het
Gm6871	G	T	7: 41,195,204 (GRCm39)	T511K	probably damaging	Het
Gtf2h1	C	T	7: 46,454,489 (GRCm39)	A157V	probably benign	Het
Hexb	T	C	13: 97,313,259 (GRCm39)		probably benign	Het
Ifi214	A	T	1: 173,352,509 (GRCm39)	S307T	possibly damaging	Het
Ighv3-4	A	T	12: 114,217,533 (GRCm39)	D19E	probably benign	Het
Klk6	A	G	7: 43,478,597 (GRCm39)	H168R	probably benign	Het
Large2	A	G	2: 92,196,950 (GRCm39)		probably benign	Het
Myo5c	T	C	9: 75,191,224 (GRCm39)	I1086T	probably benign	Het
Nes	C	A	3: 87,886,666 (GRCm39)	P1598T	probably damaging	Het
Or51f1d	T	C	7: 102,701,003 (GRCm39)	V166A	probably benign	Het
Or5g25	T	A	2: 85,478,647 (GRCm39)	Q6L	probably damaging	Het
Otud7a	A	G	7: 63,300,702 (GRCm39)	D47G	probably damaging	Het
Phactr1	T	A	13: 43,248,363 (GRCm39)	N437K	possibly damaging	Het
Plcb1	A	T	2: 135,186,078 (GRCm39)	I682F	probably damaging	Het
Plcz1	T	A	6: 139,986,344 (GRCm39)		probably null	Het
Prl7a1	T	A	13: 27,821,549 (GRCm39)	Q129L	possibly damaging	Het
Prrt4	T	C	6: 29,170,163 (GRCm39)	Y763C	probably damaging	Het
Psma7	T	C	2: 179,681,304 (GRCm39)		probably benign	Het
Serpinb6b	G	C	13: 33,156,246 (GRCm39)	C112S	probably damaging	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Slc35f5	G	A	1: 125,500,211 (GRCm39)	A242T	possibly damaging	Het
Speer4b	T	C	5: 27,706,311 (GRCm39)	R19G	probably benign	Het
Trank1	A	G	9: 111,196,103 (GRCm39)	I1376V	probably benign	Het
Trbv12-2	A	G	6: 41,095,831 (GRCm39)	N12D	probably benign	Het
Uba7	T	C	9: 107,854,001 (GRCm39)		probably null	Het
Upf3a	A	G	8: 13,846,591 (GRCm39)	R324G	probably benign	Het
Usp46	T	G	5: 74,192,928 (GRCm39)		probably benign	Het
Vmn2r14	T	G	5: 109,364,277 (GRCm39)		probably null	Het
Wbp2	G	A	11: 115,971,373 (GRCm39)		probably benign	Het
Wdpcp	T	A	11: 21,645,269 (GRCm39)	N232K	probably damaging	Het
Wdpcp	T	A	11: 21,645,271 (GRCm39)	M233K	probably benign	Het
Zfp157	A	G	5: 138,445,803 (GRCm39)	I53V	probably damaging	Het

Other mutations in Or13a25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Or13a25	APN	7	140,247,854 (GRCm39)	missense	probably benign	0.01
IGL01610:Or13a25	APN	7	140,247,584 (GRCm39)	missense	probably damaging	1.00
IGL02959:Or13a25	APN	7	140,247,463 (GRCm39)	missense	probably damaging	1.00
IGL03406:Or13a25	APN	7	140,247,424 (GRCm39)	missense	probably damaging	1.00
R0671:Or13a25	UTSW	7	140,247,590 (GRCm39)	missense	probably damaging	1.00
R1771:Or13a25	UTSW	7	140,248,048 (GRCm39)	missense	probably benign
R1934:Or13a25	UTSW	7	140,247,951 (GRCm39)	nonsense	probably null
R1985:Or13a25	UTSW	7	140,247,734 (GRCm39)	missense	probably damaging	1.00
R2962:Or13a25	UTSW	7	140,247,862 (GRCm39)	missense	probably benign
R4240:Or13a25	UTSW	7	140,247,496 (GRCm39)	missense	probably benign	0.07
R4360:Or13a25	UTSW	7	140,247,730 (GRCm39)	missense	probably damaging	0.98
R4841:Or13a25	UTSW	7	140,247,502 (GRCm39)	missense	probably damaging	1.00
R4842:Or13a25	UTSW	7	140,247,502 (GRCm39)	missense	probably damaging	1.00
R4851:Or13a25	UTSW	7	140,247,226 (GRCm39)	missense	probably benign
R5325:Or13a25	UTSW	7	140,247,705 (GRCm39)	missense	probably benign	0.33
R5766:Or13a25	UTSW	7	140,247,266 (GRCm39)	missense	probably benign	0.02
R6363:Or13a25	UTSW	7	140,247,995 (GRCm39)	missense	possibly damaging	0.93
R6836:Or13a25	UTSW	7	140,248,093 (GRCm39)	missense	possibly damaging	0.86
R7777:Or13a25	UTSW	7	140,247,854 (GRCm39)	missense	probably benign	0.01
R7920:Or13a25	UTSW	7	140,247,814 (GRCm39)	missense	possibly damaging	0.92
R8134:Or13a25	UTSW	7	140,247,680 (GRCm39)	missense	possibly damaging	0.90
R8712:Or13a25	UTSW	7	140,248,052 (GRCm39)	missense	possibly damaging	0.89
R9095:Or13a25	UTSW	7	140,247,813 (GRCm39)	missense	probably damaging	1.00
R9158:Or13a25	UTSW	7	140,247,547 (GRCm39)	missense	possibly damaging	0.76
R9603:Or13a25	UTSW	7	140,247,794 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGTTCCTGACAGGCTGCTTC -3'
(R):5'- ACATGCATTCACAAGACCGATG -3'

Sequencing Primer
(F):5'- GACAGGCTGCTTCTTGTCC -3'
(R):5'- GCATTCACAAGACCGATGAACCATAC -3'

Posted On

2015-06-12