Mutagenetix > Incidental Mutation

Incidental Mutation 'R9231:Or10a49'

700242

Institutional Source

Beutler Lab

Gene Symbol

Or10a49

Ensembl Gene

ENSMUSG00000066240

Gene Name

olfactory receptor family 10 subfamily A member 49

Synonyms

MOR268-4, Olfr517, GA_x6K02T2PBJ9-11199311-11198367

MMRRC Submission

068985-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R9231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108467415-108468359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108467840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 174 (I174V)

Ref Sequence

ENSEMBL: ENSMUSP00000150980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084753] [ENSMUST00000216500]

AlphaFold

Q7TRU4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084753
AA Change: I174V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000081805
Gene: ENSMUSG00000066240
AA Change: I174V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	7.4e-60	PFAM
Pfam:7tm_1	41	299	4.1e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216500
AA Change: I174V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

98% (60/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,349,153 (GRCm39)	Q1073R	probably benign	Het
Akirin2	A	G	4: 34,551,072 (GRCm39)	T10A	possibly damaging	Het
Ankrd13a	T	A	5: 114,942,295 (GRCm39)	I526N	probably damaging	Het
Ankrd28	A	G	14: 31,429,234 (GRCm39)	V876A	possibly damaging	Het
Aqp8	T	A	7: 123,061,813 (GRCm39)	M11K	probably benign	Het
Catsper3	T	C	13: 55,946,705 (GRCm39)	I134T	possibly damaging	Het
Cdk9	G	T	2: 32,598,006 (GRCm39)	T350N	probably benign	Het
Ckmt2	G	T	13: 92,011,311 (GRCm39)	H100N	probably damaging	Het
Cnnm4	A	T	1: 36,511,258 (GRCm39)	D162V	probably benign	Het
Cnppd1	T	C	1: 75,116,261 (GRCm39)	H108R	possibly damaging	Het
Col17a1	G	A	19: 47,667,861 (GRCm39)	R139*	probably null	Het
Cyp2c65	C	T	19: 39,060,661 (GRCm39)	P174S	possibly damaging	Het
Dync2li1	A	G	17: 84,935,819 (GRCm39)	S39G	probably null	Het
Ecpas	A	G	4: 58,875,533 (GRCm39)	Y144H	probably damaging	Het
Eif2ak4	A	G	2: 118,271,662 (GRCm39)	D882G	probably benign	Het
Emp1	C	T	6: 135,354,276 (GRCm39)	T23I	probably damaging	Het
Epha8	T	A	4: 136,673,226 (GRCm39)	D186V	probably damaging	Het
Fam169a	T	G	13: 97,254,967 (GRCm39)	D394E	probably benign	Het
Fam20b	T	C	1: 156,509,084 (GRCm39)	D376G	probably benign	Het
Fgfbp3	C	T	19: 36,896,193 (GRCm39)	A142T	possibly damaging	Het
Flg2	C	T	3: 93,109,508 (GRCm39)	S512L	unknown	Het
Fras1	T	A	5: 96,692,904 (GRCm39)	C188S	probably damaging	Het
Galr2	T	C	11: 116,174,335 (GRCm39)	C322R	probably benign	Het
Gbe1	T	A	16: 70,284,989 (GRCm39)	M437K	possibly damaging	Het
Glt1d1	T	A	5: 127,754,341 (GRCm39)	L181Q	probably damaging	Het
Gpr180	G	A	14: 118,395,455 (GRCm39)	V296I	probably damaging	Het
Gucy1a1	C	T	3: 82,013,308 (GRCm39)	E445K	probably damaging	Het
H2-T24	T	C	17: 36,331,363 (GRCm39)	D14G	possibly damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Ing5	T	G	1: 93,739,505 (GRCm39)	D37E	probably benign	Het
Kcnt1	A	G	2: 25,801,074 (GRCm39)	T1051A	probably benign	Het
Kif1b	A	T	4: 149,275,652 (GRCm39)	S1420T	possibly damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Kmt2a	A	G	9: 44,759,912 (GRCm39)	F646L	probably damaging	Het
Lrp1	T	C	10: 127,382,268 (GRCm39)	D3731G	probably benign	Het
Mif	T	A	10: 75,695,370 (GRCm39)	I97F	probably damaging	Het
Mpp4	A	T	1: 59,163,833 (GRCm39)	V507D	probably damaging	Het
Mrpl1	C	A	5: 96,361,719 (GRCm39)	N35K	probably benign	Het
Naf1	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 67,313,146 (GRCm39)		probably benign	Het
Nat8f6	A	G	6: 85,785,630 (GRCm39)	V173A	probably damaging	Het
Ninl	C	T	2: 150,792,129 (GRCm39)	R798Q	probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Or1af1	A	T	2: 37,109,989 (GRCm39)	M163L	possibly damaging	Het
Paqr8	A	G	1: 21,005,875 (GRCm39)	H343R	probably benign	Het
Parp14	A	G	16: 35,661,583 (GRCm39)	V1455A	probably damaging	Het
Parp3	A	T	9: 106,350,891 (GRCm39)	S334T	probably benign	Het
Pcbp2	T	G	15: 102,394,477 (GRCm39)		probably null	Het
Perm1	A	T	4: 156,302,234 (GRCm39)	E259D	probably damaging	Het
Plce1	A	T	19: 38,705,040 (GRCm39)	N815I	probably benign	Het
Plxnb1	A	T	9: 108,934,286 (GRCm39)	D838V	possibly damaging	Het
Prdm12	A	G	2: 31,530,265 (GRCm39)	D52G	probably benign	Het
Rac2	T	C	15: 78,450,223 (GRCm39)	N39S	probably damaging	Het
Smchd1	A	T	17: 71,672,084 (GRCm39)	C1657S	probably benign	Het
Sugct	T	A	13: 17,627,071 (GRCm39)	T261S	probably damaging	Het
Tbc1d10a	T	C	11: 4,164,885 (GRCm39)	L446P	probably damaging	Het
Tcp1	T	A	17: 13,136,761 (GRCm39)	D47E	probably damaging	Het
Tenm3	T	A	8: 48,689,231 (GRCm39)	T2119S	probably damaging	Het
Tent5a	T	G	9: 85,208,388 (GRCm39)	D145A	possibly damaging	Het
Tmem132b	T	C	5: 125,860,531 (GRCm39)	M592T	probably damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Vinac1	A	T	2: 128,879,340 (GRCm39)	I862N	unknown	Het
Washc2	C	A	6: 116,235,899 (GRCm39)	D1123E	probably benign	Het
Wee2	A	G	6: 40,440,089 (GRCm39)	I412M	probably damaging	Het

Other mutations in Or10a49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Or10a49	APN	7	108,467,482 (GRCm39)	missense	possibly damaging	0.94
IGL01866:Or10a49	APN	7	108,468,006 (GRCm39)	missense	possibly damaging	0.95
IGL02131:Or10a49	APN	7	108,467,415 (GRCm39)	makesense	probably null
IGL02456:Or10a49	APN	7	108,468,257 (GRCm39)	missense	probably benign	0.19
IGL02604:Or10a49	APN	7	108,467,857 (GRCm39)	missense	probably benign	0.00
IGL02975:Or10a49	APN	7	108,468,062 (GRCm39)	nonsense	probably null
R0084:Or10a49	UTSW	7	108,468,007 (GRCm39)	missense	probably damaging	0.98
R0504:Or10a49	UTSW	7	108,468,057 (GRCm39)	missense	possibly damaging	0.91
R0748:Or10a49	UTSW	7	108,468,357 (GRCm39)	start codon destroyed	probably null	1.00
R1428:Or10a49	UTSW	7	108,468,167 (GRCm39)	missense	probably damaging	0.99
R1907:Or10a49	UTSW	7	108,467,705 (GRCm39)	missense	possibly damaging	0.78
R2292:Or10a49	UTSW	7	108,468,223 (GRCm39)	missense	probably benign	0.05
R3874:Or10a49	UTSW	7	108,468,335 (GRCm39)	missense	probably damaging	0.98
R4091:Or10a49	UTSW	7	108,467,650 (GRCm39)	missense	probably damaging	1.00
R4873:Or10a49	UTSW	7	108,467,993 (GRCm39)	missense	probably damaging	0.99
R4875:Or10a49	UTSW	7	108,467,993 (GRCm39)	missense	probably damaging	0.99
R5440:Or10a49	UTSW	7	108,467,833 (GRCm39)	missense	probably damaging	1.00
R5920:Or10a49	UTSW	7	108,467,895 (GRCm39)	missense	probably benign
R6723:Or10a49	UTSW	7	108,467,795 (GRCm39)	missense	probably damaging	1.00
R6730:Or10a49	UTSW	7	108,467,780 (GRCm39)	missense	probably benign	0.09
R6892:Or10a49	UTSW	7	108,467,722 (GRCm39)	missense	probably damaging	1.00
R7473:Or10a49	UTSW	7	108,467,476 (GRCm39)	missense	probably damaging	0.98
R8160:Or10a49	UTSW	7	108,467,995 (GRCm39)	missense	possibly damaging	0.74
R8213:Or10a49	UTSW	7	108,467,726 (GRCm39)	missense	probably benign
R8330:Or10a49	UTSW	7	108,468,046 (GRCm39)	missense	probably damaging	1.00
R8913:Or10a49	UTSW	7	108,467,809 (GRCm39)	missense	probably damaging	1.00
R9585:Or10a49	UTSW	7	108,467,552 (GRCm39)	missense	probably benign	0.20
R9664:Or10a49	UTSW	7	108,467,563 (GRCm39)	missense	probably damaging	1.00
R9778:Or10a49	UTSW	7	108,467,698 (GRCm39)	missense	probably damaging	0.98
Z1186:Or10a49	UTSW	7	108,468,143 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CTGTAGTGGATGGCATCTTCAG -3'
(R):5'- AGCGACCATTTCCTTTGGGG -3'

Sequencing Primer
(F):5'- TCTTCAGGATGGAGAAGAGGATTC -3'
(R):5'- TCTCTTGGGGGCAATGGC -3'

Posted On

2022-02-07