Mutagenetix > Incidental Mutation

Incidental Mutation 'R4658:Or10al5'

352640

Institutional Source

Beutler Lab

Gene Symbol

Or10al5

Ensembl Gene

ENSMUSG00000060017

Gene Name

olfactory receptor family 10 subfamily AL member 5

Synonyms

Olfr121, GA_x6K02T2PSCP-2211113-2212078, MOR263-4

MMRRC Submission

041918-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R4658 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38059757-38063895 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38063054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 103 (C103F)

Ref Sequence

ENSEMBL: ENSMUSP00000084377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074555] [ENSMUST00000174675]

AlphaFold

Q5CZY0

Predicted Effect

probably damaging
Transcript: ENSMUST00000074555
AA Change: C103F

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

SMART Domains

Protein: ENSMUSP00000084377
Gene: ENSMUSG00000060017
AA Change: C103F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	2.9e-56	PFAM
Pfam:7TM_GPCR_Srsx	41	311	2.1e-5	PFAM
Pfam:7tm_1	47	296	8.3e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174675
AA Change: C103F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133865
Gene: ENSMUSG00000060017
AA Change: C103F

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC

Meta Mutation Damage Score

0.5276

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

99% (88/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,338,625 (GRCm39)	R778S	probably damaging	Het
Adam17	A	G	12: 21,382,161 (GRCm39)	C567R	probably damaging	Het
Ankrd28	G	A	14: 31,432,825 (GRCm39)	A758V	probably damaging	Het
Atrn	T	C	2: 130,775,349 (GRCm39)	Y151H	probably damaging	Het
B3gat3	A	G	19: 8,902,996 (GRCm39)	T118A	possibly damaging	Het
Camta1	A	G	4: 151,228,367 (GRCm39)	C822R	probably damaging	Het
Capn15	G	T	17: 26,179,742 (GRCm39)	Q807K	probably benign	Het
Clec12a	T	C	6: 129,331,493 (GRCm39)	Y145H	probably damaging	Het
Clk1	T	C	1: 58,452,146 (GRCm39)	I393V	probably benign	Het
Cpm	A	G	10: 117,503,956 (GRCm39)	I121V	probably benign	Het
Cux1	A	G	5: 136,279,448 (GRCm39)	I405T	possibly damaging	Het
Dnah3	A	G	7: 119,549,874 (GRCm39)	S3471P	probably damaging	Het
Dok6	A	G	18: 89,491,971 (GRCm39)		probably benign	Het
Eif4g1	A	T	16: 20,504,684 (GRCm39)	D1124V	possibly damaging	Het
Eif4g3	A	G	4: 137,933,443 (GRCm39)	E1756G	probably damaging	Het
Exo5	A	G	4: 120,779,748 (GRCm39)	V39A	probably benign	Het
Fmnl1	A	T	11: 103,088,520 (GRCm39)	I90F	probably damaging	Het
Fryl	G	T	5: 73,238,396 (GRCm39)	T1450K	probably damaging	Het
Gde1	T	C	7: 118,293,751 (GRCm39)	M91V	probably benign	Het
Gimd1	T	C	3: 132,350,343 (GRCm39)	I84T	probably damaging	Het
Gm13889	C	T	2: 93,787,453 (GRCm39)		probably benign	Het
Gm6445	T	A	19: 9,585,561 (GRCm39)		noncoding transcript	Het
Gm8113	T	C	14: 44,169,867 (GRCm39)	S483P	probably damaging	Het
Grik2	T	C	10: 49,399,888 (GRCm39)	I281V	possibly damaging	Het
Grik5	T	C	7: 24,760,152 (GRCm39)		probably benign	Het
Herc1	A	T	9: 66,386,773 (GRCm39)	I3796F	possibly damaging	Het
Hoxb13	A	T	11: 96,085,309 (GRCm39)	D14V	probably benign	Het
Hspg2	A	G	4: 137,261,041 (GRCm39)	Y1645C	probably damaging	Het
Igkv8-16	G	T	6: 70,363,762 (GRCm39)	R87S	probably damaging	Het
Ints1	A	T	5: 139,760,054 (GRCm39)	V140E	possibly damaging	Het
Kbtbd11	C	A	8: 15,078,917 (GRCm39)	D505E	possibly damaging	Het
Kcnu1	G	A	8: 26,427,583 (GRCm39)	C300Y	probably damaging	Het
Kmt2d	G	C	15: 98,750,410 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,578,493 (GRCm39)	V539A	probably benign	Het
Lipo5	C	T	19: 33,441,922 (GRCm39)	G200D	unknown	Het
Lmo7	C	A	14: 102,124,393 (GRCm39)	A284D	probably damaging	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Mcpt8	T	C	14: 56,321,285 (GRCm39)	M60V	possibly damaging	Het
Mdn1	A	G	4: 32,730,749 (GRCm39)		probably null	Het
Mphosph10	A	G	7: 64,038,722 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,395,135 (GRCm39)	S47N	unknown	Het
Notch3	A	T	17: 32,373,737 (GRCm39)	N490K	probably damaging	Het
Nr1d1	G	A	11: 98,662,738 (GRCm39)	S85L	possibly damaging	Het
Obscn	T	A	11: 58,945,114 (GRCm39)	R4635*	probably null	Het
Or13f5	T	C	4: 52,826,240 (GRCm39)	L281P	probably damaging	Het
Or9i16	T	C	19: 13,864,912 (GRCm39)	I221V	probably benign	Het
Pappa	G	A	4: 65,233,033 (GRCm39)		probably null	Het
Pcdhb17	G	A	18: 37,619,652 (GRCm39)	G481S	probably damaging	Het
Pde1a	TCC	TC	2: 79,728,525 (GRCm39)		probably benign	Het
Phf3	A	T	1: 30,902,169 (GRCm39)	M48K	probably damaging	Het
Pira2	A	T	7: 3,843,933 (GRCm39)	V613E	probably damaging	Het
Poc1a	T	C	9: 106,226,887 (GRCm39)	S327P	possibly damaging	Het
Ptpn9	A	G	9: 56,927,321 (GRCm39)	H66R	probably benign	Het
Rabgap1	C	T	2: 37,377,561 (GRCm39)	R353*	probably null	Het
Rcc1l	G	T	5: 134,200,729 (GRCm39)	N134K	probably damaging	Het
Rims1	G	A	1: 22,497,793 (GRCm39)	T787I	probably damaging	Het
Rreb1	T	G	13: 38,132,777 (GRCm39)	S1651A	probably damaging	Het
Rsl1d1	T	C	16: 11,019,238 (GRCm39)	D100G	probably damaging	Het
Samd4	C	T	14: 47,301,703 (GRCm39)	R147C	probably damaging	Het
Serpinb6e	T	C	13: 34,025,299 (GRCm39)		probably benign	Het
Ska1	T	C	18: 74,330,111 (GRCm39)	I210V	probably benign	Het
Slc17a1	A	G	13: 24,062,543 (GRCm39)	I237V	probably benign	Het
Slc22a4	A	T	11: 53,888,336 (GRCm39)	S231T	probably benign	Het
Slc7a4	T	A	16: 17,393,797 (GRCm39)	M66L	probably damaging	Het
Snapc1	A	G	12: 74,030,642 (GRCm39)	T381A	possibly damaging	Het
St6galnac2	C	T	11: 116,575,351 (GRCm39)		probably benign	Het
Taar2	C	T	10: 23,817,401 (GRCm39)	L314F	probably benign	Het
Tmem74b	A	G	2: 151,548,561 (GRCm39)	D96G	probably damaging	Het
Tnfrsf17	T	C	16: 11,131,833 (GRCm39)	F6S	probably benign	Het
Tpp2	G	T	1: 43,993,870 (GRCm39)	G252W	probably damaging	Het
Trf	A	G	9: 103,100,807 (GRCm39)	F209L	probably damaging	Het
Ttn	T	C	2: 76,728,935 (GRCm39)		probably benign	Het
Uhmk1	A	T	1: 170,034,774 (GRCm39)	H311Q	probably damaging	Het
Unc13c	G	T	9: 73,840,108 (GRCm39)	Q248K	probably damaging	Het
Uqcrc2	A	G	7: 120,250,144 (GRCm39)	Y253C	probably damaging	Het
Vmn2r117	A	G	17: 23,697,390 (GRCm39)	F101L	probably benign	Het
Vmn2r43	T	C	7: 8,258,070 (GRCm39)	N381S	probably benign	Het
Zfp879	T	A	11: 50,724,024 (GRCm39)	Y271F	probably damaging	Het

Other mutations in Or10al5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Or10al5	APN	17	38,063,177 (GRCm39)	missense	probably benign	0.03
R0100:Or10al5	UTSW	17	38,063,594 (GRCm39)	missense	probably benign	0.12
R0328:Or10al5	UTSW	17	38,063,284 (GRCm39)	missense	possibly damaging	0.57
R1641:Or10al5	UTSW	17	38,062,916 (GRCm39)	missense	possibly damaging	0.90
R2358:Or10al5	UTSW	17	38,063,271 (GRCm39)	nonsense	probably null
R3711:Or10al5	UTSW	17	38,063,271 (GRCm39)	nonsense	probably null
R3712:Or10al5	UTSW	17	38,063,271 (GRCm39)	nonsense	probably null
R4913:Or10al5	UTSW	17	38,063,315 (GRCm39)	missense	possibly damaging	0.86
R5229:Or10al5	UTSW	17	38,063,192 (GRCm39)	missense	probably benign	0.00
R5611:Or10al5	UTSW	17	38,062,975 (GRCm39)	missense	possibly damaging	0.94
R6159:Or10al5	UTSW	17	38,063,038 (GRCm39)	missense	probably damaging	1.00
R6375:Or10al5	UTSW	17	38,062,990 (GRCm39)	missense	probably benign
R6500:Or10al5	UTSW	17	38,063,577 (GRCm39)	missense	probably damaging	1.00
R6818:Or10al5	UTSW	17	38,063,315 (GRCm39)	missense	possibly damaging	0.86
R7027:Or10al5	UTSW	17	38,063,300 (GRCm39)	missense	probably damaging	1.00
R7498:Or10al5	UTSW	17	38,063,242 (GRCm39)	missense	probably damaging	0.96
R7888:Or10al5	UTSW	17	38,062,888 (GRCm39)	missense	probably damaging	1.00
R8299:Or10al5	UTSW	17	38,062,891 (GRCm39)	nonsense	probably null
R9497:Or10al5	UTSW	17	38,062,942 (GRCm39)	missense	probably damaging	1.00
Z1176:Or10al5	UTSW	17	38,063,658 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGACAGGAAATGAACTCATAGC -3'
(R):5'- GGGTCCACAGAAGTTCAACG -3'

Sequencing Primer
(F):5'- ATGAACTCATAGCCATTGCCATCTG -3'
(R):5'- AAAATTGGTTTGTCCCAACCC -3'

Posted On

2015-10-08