Mutagenetix > Incidental Mutation

Incidental Mutation 'R4630:Or10a48'

349115

Institutional Source

Beutler Lab

Gene Symbol

Or10a48

Ensembl Gene

ENSMUSG00000066241

Gene Name

olfactory receptor family 10 subfamily A member 48

Synonyms

Olfr514, MOR268-1, GA_x6K02T2PBJ9-11156311-11155379

MMRRC Submission

041895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R4630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108424272-108425204 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108424802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 135 (M135V)

Ref Sequence

ENSEMBL: ENSMUSP00000081807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084754]

AlphaFold

Q8VFZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000084754
AA Change: M135V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000081807
Gene: ENSMUSG00000066241
AA Change: M135V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	3.9e-57	PFAM
Pfam:7tm_1	40	289	5e-21	PFAM

Meta Mutation Damage Score

0.1779

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (74/76)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	T	13: 119,624,622 (GRCm39)		probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
BC024139	T	G	15: 76,009,294 (GRCm39)	Q240P	probably benign	Het
Bckdha	A	T	7: 25,330,884 (GRCm39)	I44N	probably damaging	Het
Brpf1	T	C	6: 113,286,867 (GRCm39)	Y32H	probably damaging	Het
Catip	A	G	1: 74,408,072 (GRCm39)		probably benign	Het
Ccdc138	T	C	10: 58,409,477 (GRCm39)	L602P	probably damaging	Het
Cilp	A	T	9: 65,187,162 (GRCm39)	T1086S	probably benign	Het
Comp	A	T	8: 70,827,032 (GRCm39)	I58F	possibly damaging	Het
Crygs	T	C	16: 22,624,268 (GRCm39)	E113G	possibly damaging	Het
Dnmt3b	C	T	2: 153,512,235 (GRCm39)	R319*	probably null	Het
Eif3a	A	G	19: 60,758,366 (GRCm39)	I804T	unknown	Het
Eif3a	A	T	19: 60,766,424 (GRCm39)	H301Q	probably benign	Het
Elf3	A	T	1: 135,184,478 (GRCm39)		probably benign	Het
Fads2b	C	A	2: 85,348,990 (GRCm39)	G41*	probably null	Het
Gm10384	A	G	15: 36,872,017 (GRCm39)		noncoding transcript	Het
Gm11627	T	A	11: 102,469,657 (GRCm39)		probably benign	Het
Gpr183	A	T	14: 122,192,261 (GRCm39)	Y87N	probably damaging	Het
Gpr183	G	C	14: 122,192,262 (GRCm39)	Y86*	probably null	Het
Gpr26	T	C	7: 131,568,709 (GRCm39)	V18A	probably damaging	Het
Herc1	T	A	9: 66,340,996 (GRCm39)		probably null	Het
Hint2	C	T	4: 43,656,396 (GRCm39)		probably benign	Het
Jag1	A	T	2: 136,927,899 (GRCm39)	D837E	probably damaging	Het
Jmjd1c	C	A	10: 66,993,753 (GRCm39)	S78*	probably null	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lalba	T	C	15: 98,380,549 (GRCm39)	M2V	probably benign	Het
Lama1	T	A	17: 68,101,295 (GRCm39)	D1929E	probably benign	Het
Macf1	T	C	4: 123,367,432 (GRCm39)	K878R	possibly damaging	Het
Mboat4	T	C	8: 34,591,108 (GRCm39)	S182P	probably damaging	Het
Muc5b	A	T	7: 141,411,721 (GRCm39)	T1556S	unknown	Het
Myo1g	T	C	11: 6,469,047 (GRCm39)	Y85C	probably damaging	Het
Ncapd2	C	A	6: 125,156,196 (GRCm39)		probably null	Het
Nox3	T	C	17: 3,744,257 (GRCm39)	D96G	possibly damaging	Het
Or1e17	T	C	11: 73,831,822 (GRCm39)	L250P	probably damaging	Het
Or6c212	A	G	10: 129,559,350 (GRCm39)	L21P	probably damaging	Het
Pacs1	C	T	19: 5,206,384 (GRCm39)		probably null	Het
Pgap4	C	G	4: 49,586,254 (GRCm39)	V305L	probably benign	Het
Pgm5	C	A	19: 24,812,110 (GRCm39)	G141*	probably null	Het
Pik3r4	A	G	9: 105,532,098 (GRCm39)	M557V	probably benign	Het
Pld4	T	A	12: 112,731,498 (GRCm39)	V217D	probably damaging	Het
Pphln1-ps1	T	C	16: 13,495,278 (GRCm39)	S126P	probably damaging	Het
Ppp1r3c	T	C	19: 36,710,915 (GRCm39)	E285G	probably benign	Het
Pradc1	T	A	6: 85,424,275 (GRCm39)	M24L	possibly damaging	Het
Prepl	T	C	17: 85,390,659 (GRCm39)	T100A	probably benign	Het
Rmi2	C	T	16: 10,704,073 (GRCm39)	T138I	probably benign	Het
Rtkn	A	T	6: 83,129,163 (GRCm39)	K540*	probably null	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Setd4	A	G	16: 93,388,114 (GRCm39)	L124P	probably benign	Het
Sh3gl2	A	G	4: 85,297,646 (GRCm39)	D208G	probably damaging	Het
Sult4a1	T	C	15: 83,989,779 (GRCm39)	T8A	possibly damaging	Het
Tert	A	G	13: 73,797,110 (GRCm39)	D1116G	probably damaging	Het
Tlr4	A	G	4: 66,757,477 (GRCm39)	E90G	probably benign	Het
Tmem123	T	C	9: 7,791,393 (GRCm39)	L164P	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trak1	G	A	9: 121,283,491 (GRCm39)	R419Q	probably benign	Het
Trp53bp1	G	T	2: 121,038,368 (GRCm39)	A1490D	probably damaging	Het
Ttc16	T	C	2: 32,665,389 (GRCm39)		probably benign	Het
Tyw5	T	A	1: 57,427,686 (GRCm39)	Q306L	probably damaging	Het
Ube2j2	T	A	4: 156,039,715 (GRCm39)	I14N	probably damaging	Het
Vmn2r103	T	C	17: 20,013,958 (GRCm39)	I250T	probably benign	Het
Zar1	A	G	5: 72,738,249 (GRCm39)	V51A	probably benign	Het
Zbtb38	T	G	9: 96,570,904 (GRCm39)	N60T	probably damaging	Het
Zfp354a	T	C	11: 50,961,045 (GRCm39)	S417P	probably damaging	Het
Zfp410	A	T	12: 84,372,510 (GRCm39)	D112V	probably damaging	Het
Zfp518a	C	T	19: 40,901,423 (GRCm39)	Q451*	probably null	Het
Zfp64	T	C	2: 168,768,463 (GRCm39)	N383S	possibly damaging	Het
Zfp687	A	T	3: 94,919,799 (GRCm39)		probably null	Het

Other mutations in Or10a48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Or10a48	APN	7	108,424,280 (GRCm39)	missense	probably benign	0.00
IGL01469:Or10a48	APN	7	108,424,534 (GRCm39)	missense	probably benign	0.29
IGL02079:Or10a48	APN	7	108,425,143 (GRCm39)	missense	probably damaging	0.99
IGL02330:Or10a48	APN	7	108,425,206 (GRCm39)	unclassified	probably benign
IGL02662:Or10a48	APN	7	108,424,952 (GRCm39)	missense	probably benign	0.16
IGL02713:Or10a48	APN	7	108,424,801 (GRCm39)	missense	probably damaging	1.00
R1158:Or10a48	UTSW	7	108,424,385 (GRCm39)	missense	probably damaging	1.00
R1610:Or10a48	UTSW	7	108,425,131 (GRCm39)	missense	probably benign
R1638:Or10a48	UTSW	7	108,424,442 (GRCm39)	missense	probably benign	0.03
R4242:Or10a48	UTSW	7	108,424,666 (GRCm39)	missense	probably benign
R5042:Or10a48	UTSW	7	108,424,678 (GRCm39)	missense	possibly damaging	0.72
R5967:Or10a48	UTSW	7	108,424,921 (GRCm39)	missense	probably benign	0.12
R7180:Or10a48	UTSW	7	108,425,186 (GRCm39)	missense	probably damaging	0.98
Z1088:Or10a48	UTSW	7	108,425,103 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GACAAGCAAAATGGTGCCTG -3'
(R):5'- CACAACTGTTATGCCTGAGATGC -3'

Sequencing Primer
(F):5'- CTTCAAACAGGAAGGTGTCTGCAC -3'
(R):5'- CTGGTGGTCCTGACTAGTGAGAAAG -3'

Posted On

2015-10-08