Mutagenetix > Incidental Mutation

Incidental Mutation 'R2119:Or10a5'

231287

Institutional Source

Beutler Lab

Gene Symbol

Or10a5

Ensembl Gene

ENSMUSG00000073898

Gene Name

olfactory receptor family 10 subfamily A member 5

Synonyms

MOR263-1, Olfr713, P3, GA_x6K02T2PBJ9-9415724-9416677

MMRRC Submission

040123-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R2119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106635343-106636317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106635938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 192 (D192G)

Ref Sequence

ENSEMBL: ENSMUSP00000095741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098138] [ENSMUST00000098139] [ENSMUST00000213623]

AlphaFold

Q920G5

Predicted Effect

probably damaging
Transcript: ENSMUST00000098138
AA Change: D192G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095741
Gene: ENSMUSG00000073897
AA Change: D192G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	2.6e-58	PFAM
Pfam:7tm_1	42	291	2.2e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098139
AA Change: D199G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095743
Gene: ENSMUSG00000073898
AA Change: D199G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	39	316	4.4e-57	PFAM
Pfam:7tm_1	49	298	2e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213623
AA Change: D192G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

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]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal olfactory sensory neuron projections. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Actbl2	G	A	13: 111,391,694 (GRCm39)	V10I	probably benign	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Aifm2	G	A	10: 61,571,383 (GRCm39)	V306M	possibly damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Atxn7l3	C	A	11: 102,182,807 (GRCm39)	R278L	possibly damaging	Het
Bcl9	A	G	3: 97,116,231 (GRCm39)	L821P	probably benign	Het
Cdh19	C	T	1: 110,847,320 (GRCm39)	V430I	probably benign	Het
Clns1a	T	A	7: 97,363,111 (GRCm39)		probably null	Het
Col3a1	T	A	1: 45,385,281 (GRCm39)	C133S	probably damaging	Het
Csmd1	G	A	8: 17,266,749 (GRCm39)	T59I	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Cyp2j8	A	T	4: 96,395,438 (GRCm39)	D62E	probably benign	Het
Dcbld1	A	T	10: 52,196,075 (GRCm39)	M428L	probably benign	Het
Dhx32	A	T	7: 133,323,976 (GRCm39)	Y523*	probably null	Het
Dlgap2	C	T	8: 14,828,206 (GRCm39)	A538V	possibly damaging	Het
Dlgap3	T	C	4: 127,129,982 (GRCm39)	S919P	probably benign	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsc1	A	T	18: 20,243,209 (GRCm39)	H81Q	probably benign	Het
Dusp8	A	T	7: 141,636,298 (GRCm39)	S431T	possibly damaging	Het
Dync1i1	A	T	6: 5,767,096 (GRCm39)	T59S	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Eef1d	G	T	15: 75,775,062 (GRCm39)	A199E	probably benign	Het
Eml3	T	A	19: 8,911,718 (GRCm39)		probably null	Het
Enah	G	T	1: 181,749,318 (GRCm39)	A138E	probably damaging	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Gba1	A	T	3: 89,112,868 (GRCm39)	E170V	probably benign	Het
Hdac1	C	T	4: 129,416,157 (GRCm39)	R212Q	probably benign	Het
Heatr1	T	A	13: 12,447,527 (GRCm39)	L1740Q	probably null	Het
Inhbb	T	A	1: 119,348,431 (GRCm39)	H129L	probably benign	Het
Inpp5b	T	A	4: 124,691,662 (GRCm39)	H862Q	probably benign	Het
Itsn2	C	A	12: 4,757,025 (GRCm39)	R1372S	probably benign	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Klk1b21	A	T	7: 43,755,193 (GRCm39)	T163S	probably benign	Het
Lmo3	A	T	6: 138,393,492 (GRCm39)	C43S	probably damaging	Het
Metrn	C	T	17: 26,014,197 (GRCm39)	V210I	probably benign	Het
Ndufaf7	A	T	17: 79,252,442 (GRCm39)	I284F	possibly damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Osbpl7	T	C	11: 96,946,905 (GRCm39)	S403P	probably benign	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reln	T	A	5: 22,223,998 (GRCm39)	E917V	probably damaging	Het
Rfc4	A	T	16: 22,943,314 (GRCm39)	V61E	probably damaging	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Rtn4ip1	A	G	10: 43,811,993 (GRCm39)		probably null	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Serhl	A	G	15: 82,999,776 (GRCm39)	Q252R	probably benign	Het
Sestd1	T	C	2: 77,042,867 (GRCm39)	D229G	probably benign	Het
Slc35g1	T	C	19: 38,391,735 (GRCm39)	V339A	probably benign	Het
Slc9b2	T	A	3: 135,034,743 (GRCm39)		probably null	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tep1	T	G	14: 51,076,443 (GRCm39)	K1664Q	probably benign	Het
Tmod2	T	C	9: 75,493,377 (GRCm39)	K193E	possibly damaging	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Ttc5	A	T	14: 51,012,822 (GRCm39)	Y189N	probably damaging	Het
Ugt2a3	A	T	5: 87,484,430 (GRCm39)	M198K	probably damaging	Het
Uox	A	G	3: 146,318,297 (GRCm39)	H66R	probably benign	Het
Usp9y	A	T	Y: 1,303,451 (GRCm39)	D2487E	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Vps11	T	C	9: 44,260,294 (GRCm39)	D856G	probably benign	Het
Zdhhc17	T	C	10: 110,817,909 (GRCm39)	N90D	possibly damaging	Het
Zfp105	T	A	9: 122,758,743 (GRCm39)	L138*	probably null	Het
Zfp28	A	G	7: 6,397,875 (GRCm39)	Y770C	probably benign	Het
Zfp655	T	A	5: 145,181,594 (GRCm39)	L484Q	probably damaging	Het
Zfp868	C	A	8: 70,064,646 (GRCm39)	E230*	probably null	Het
Zfpm2	A	G	15: 40,966,419 (GRCm39)	Y836C	probably damaging	Het

Other mutations in Or10a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Or10a5	APN	7	106,636,054 (GRCm39)	missense	probably damaging	0.99
IGL01630:Or10a5	APN	7	106,636,318 (GRCm39)	utr 3 prime	probably benign
IGL02539:Or10a5	APN	7	106,635,641 (GRCm39)	missense	probably damaging	1.00
IGL02727:Or10a5	APN	7	106,635,902 (GRCm39)	missense	probably damaging	1.00
IGL03336:Or10a5	APN	7	106,635,542 (GRCm39)	missense	probably damaging	1.00
R0501:Or10a5	UTSW	7	106,635,439 (GRCm39)	missense	probably benign
R0684:Or10a5	UTSW	7	106,635,889 (GRCm39)	missense	probably damaging	1.00
R0909:Or10a5	UTSW	7	106,635,401 (GRCm39)	missense	probably benign	0.19
R1481:Or10a5	UTSW	7	106,635,356 (GRCm39)	missense	probably benign	0.05
R1958:Or10a5	UTSW	7	106,635,478 (GRCm39)	missense	possibly damaging	0.77
R1965:Or10a5	UTSW	7	106,635,565 (GRCm39)	missense	probably damaging	1.00
R2149:Or10a5	UTSW	7	106,635,545 (GRCm39)	missense	possibly damaging	0.68
R3012:Or10a5	UTSW	7	106,635,569 (GRCm39)	missense	possibly damaging	0.79
R3428:Or10a5	UTSW	7	106,635,923 (GRCm39)	missense	probably benign
R4425:Or10a5	UTSW	7	106,635,698 (GRCm39)	missense	probably damaging	1.00
R4795:Or10a5	UTSW	7	106,636,121 (GRCm39)	missense	probably benign	0.00
R4796:Or10a5	UTSW	7	106,636,121 (GRCm39)	missense	probably benign	0.00
R4908:Or10a5	UTSW	7	106,635,364 (GRCm39)	start codon destroyed	probably benign	0.02
R4945:Or10a5	UTSW	7	106,635,526 (GRCm39)	missense	probably benign	0.00
R5122:Or10a5	UTSW	7	106,636,055 (GRCm39)	nonsense	probably null
R5721:Or10a5	UTSW	7	106,635,565 (GRCm39)	missense	probably damaging	1.00
R5979:Or10a5	UTSW	7	106,635,543 (GRCm39)	missense	probably damaging	1.00
R6739:Or10a5	UTSW	7	106,636,018 (GRCm39)	missense	probably damaging	1.00
R6981:Or10a5	UTSW	7	106,635,956 (GRCm39)	missense	possibly damaging	0.77
R7197:Or10a5	UTSW	7	106,635,364 (GRCm39)	missense	probably benign	0.03
R7228:Or10a5	UTSW	7	106,636,307 (GRCm39)	missense	probably benign
R7444:Or10a5	UTSW	7	106,635,554 (GRCm39)	missense	probably damaging	1.00
R8830:Or10a5	UTSW	7	106,635,889 (GRCm39)	missense	probably benign	0.28
R9109:Or10a5	UTSW	7	106,635,640 (GRCm39)	missense	probably damaging	1.00
R9298:Or10a5	UTSW	7	106,635,640 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTCCCTTGCATTACCCAG -3'
(R):5'- TAGGCCTAAAGTAAGTGAGGCTTG -3'

Sequencing Primer
(F):5'- TTGCATTACCCAGTCATCATGAAC -3'
(R):5'- CCTAAAGTAAGTGAGGCTTGAAGAC -3'

Posted On

2014-09-18