Mutagenetix > Incidental Mutation

Incidental Mutation 'R1804:Or5al1'

203356

Institutional Source

Beutler Lab

Gene Symbol

Or5al1

Ensembl Gene

ENSMUSG00000075202

Gene Name

olfactory receptor family 5 subfamily AL member 1

Synonyms

Olfr1042, MOR185-10, GA_x6K02T2Q125-47629317-47628376

MMRRC Submission

039834-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85989689-85990785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85990417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 99 (T99N)

Ref Sequence

ENSEMBL: ENSMUSP00000151053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099907] [ENSMUST00000099908] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215624] [ENSMUST00000216028]

AlphaFold

Q7TR81

Predicted Effect

probably benign
Transcript: ENSMUST00000099907

SMART Domains

Protein: ENSMUSP00000097491
Gene: ENSMUSG00000075201

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	6.9e-46	PFAM
Pfam:7tm_1	41	290	1.5e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099908
AA Change: T99N

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097492
Gene: ENSMUSG00000075202
AA Change: T99N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.2e-48	PFAM
Pfam:7tm_1	41	290	1.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213886

Predicted Effect

probably benign
Transcript: ENSMUST00000213949

Predicted Effect

probably benign
Transcript: ENSMUST00000215624
AA Change: T99N

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000216028

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.5%
20x: 89.8%

Validation Efficiency

96% (77/80)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 183,765,400 (GRCm39)	Y220H	probably benign	Het
4930579C12Rik	T	C	9: 89,034,113 (GRCm39)		noncoding transcript	Het
Abcc8	T	C	7: 45,769,903 (GRCm39)	S871G	probably benign	Het
Acly	T	C	11: 100,406,731 (GRCm39)	Y288C	probably damaging	Het
Adgrb1	T	A	15: 74,401,389 (GRCm39)	D128E	probably damaging	Het
Alms1	C	T	6: 85,598,257 (GRCm39)	Q1497*	probably null	Het
Bltp2	A	G	11: 78,164,295 (GRCm39)	H1165R	probably damaging	Het
Cacna1c	G	A	6: 118,664,007 (GRCm39)	T688M	probably damaging	Het
Ccdc7a	A	T	8: 129,715,247 (GRCm39)	L279*	probably null	Het
Cep135	A	G	5: 76,784,779 (GRCm39)	E958G	probably benign	Het
Clec4n	G	T	6: 123,206,981 (GRCm39)	V2L	possibly damaging	Het
Col28a1	C	T	6: 8,164,612 (GRCm39)		probably null	Het
Dcaf5	A	G	12: 80,386,603 (GRCm39)	S508P	probably benign	Het
Dlgap2	C	A	8: 14,777,809 (GRCm39)	N351K	possibly damaging	Het
Dnah8	T	A	17: 30,927,381 (GRCm39)	Y1346N	probably benign	Het
Dqx1	T	C	6: 83,037,303 (GRCm39)	V322A	probably damaging	Het
Ebf3	A	C	7: 136,802,250 (GRCm39)	L412V	possibly damaging	Het
Epha5	T	C	5: 84,479,674 (GRCm39)	N110S	probably benign	Het
Fcgbp	T	C	7: 27,785,564 (GRCm39)	C334R	probably benign	Het
Glp1r	T	A	17: 31,149,687 (GRCm39)		probably null	Het
Gm4952	G	T	19: 12,595,784 (GRCm39)	R58L	probably damaging	Het
Gm7579	G	A	7: 141,765,675 (GRCm39)	C27Y	unknown	Het
Golm1	T	A	13: 59,790,203 (GRCm39)		probably null	Het
Gucy2g	T	A	19: 55,198,741 (GRCm39)	I801F	probably benign	Het
H2-D1	T	C	17: 35,482,528 (GRCm39)	Y83H	probably damaging	Het
Homez	A	T	14: 55,094,598 (GRCm39)	I19N	probably damaging	Het
Hoxa5	T	C	6: 52,179,628 (GRCm39)	K249R	probably damaging	Het
Hsd17b4	A	T	18: 50,311,051 (GRCm39)	N550Y	probably damaging	Het
Ipo4	A	T	14: 55,866,913 (GRCm39)	N668K	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klb	A	G	5: 65,537,196 (GRCm39)	D842G	probably damaging	Het
Minar1	T	A	9: 89,485,152 (GRCm39)	M82L	possibly damaging	Het
Mmp21	G	T	7: 133,280,611 (GRCm39)	P120T	probably benign	Het
Mroh7	T	A	4: 106,551,589 (GRCm39)	I918F	possibly damaging	Het
Muc5b	A	G	7: 141,417,517 (GRCm39)	T3488A	possibly damaging	Het
Npc1	C	T	18: 12,356,145 (GRCm39)	C42Y	probably damaging	Het
Ogdh	A	G	11: 6,288,565 (GRCm39)	Y214C	probably damaging	Het
Or2q1	G	A	6: 42,795,155 (GRCm39)	C250Y	possibly damaging	Het
Or4k15c	A	T	14: 50,321,359 (GRCm39)	W260R	probably damaging	Het
Or4k35	T	C	2: 111,100,275 (GRCm39)	M146V	probably benign	Het
Or8d23	A	G	9: 38,841,946 (GRCm39)	T160A	possibly damaging	Het
Phtf1	A	G	3: 103,894,883 (GRCm39)		probably benign	Het
Plb1	A	G	5: 32,511,041 (GRCm39)	N1302S	possibly damaging	Het
Prex2	A	G	1: 11,202,566 (GRCm39)	K492E	probably damaging	Het
Prkaa1	A	G	15: 5,208,259 (GRCm39)	D509G	probably benign	Het
Rims2	C	T	15: 39,300,439 (GRCm39)	Q57*	probably null	Het
Rnf40	T	C	7: 127,195,120 (GRCm39)	V411A	possibly damaging	Het
Rraga	A	G	4: 86,494,681 (GRCm39)	I176V	probably damaging	Het
Rrm2	T	C	12: 24,758,611 (GRCm39)	I51T	probably benign	Het
Serpina3a	T	A	12: 104,084,675 (GRCm39)		probably benign	Het
Skint7	T	C	4: 111,839,209 (GRCm39)	W168R	probably damaging	Het
Slc27a4	A	G	2: 29,701,279 (GRCm39)	M357V	probably benign	Het
Slc4a3	A	G	1: 75,528,361 (GRCm39)	H452R	probably damaging	Het
Smc1b	A	T	15: 85,011,991 (GRCm39)	I127K	possibly damaging	Het
Snap91	T	A	9: 86,665,470 (GRCm39)	M383L	probably benign	Het
Taf6l	A	T	19: 8,750,998 (GRCm39)	L52Q	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tas2r124	A	G	6: 132,732,488 (GRCm39)	I266V	probably benign	Het
Tesk2	T	C	4: 116,657,818 (GRCm39)		probably benign	Het
Tmem131l	T	G	3: 83,817,786 (GRCm39)	Q1237P	possibly damaging	Het
Tmem67	A	G	4: 12,045,789 (GRCm39)		probably null	Het
Tnfaip8	T	A	18: 50,223,728 (GRCm39)	C179S	probably damaging	Het
Ush2a	G	A	1: 188,365,926 (GRCm39)		probably null	Het
Vps13b	A	T	15: 35,917,283 (GRCm39)	E3709V	probably damaging	Het
Wdr7	A	T	18: 63,998,511 (GRCm39)	S1153C	probably damaging	Het
Zc2hc1b	A	C	10: 13,047,012 (GRCm39)		probably benign	Het
Zfp438	A	G	18: 5,213,689 (GRCm39)	I423T	probably damaging	Het
Zfp592	C	A	7: 80,673,443 (GRCm39)	P136T	probably damaging	Het
Zfp783	T	A	6: 47,922,819 (GRCm39)		noncoding transcript	Het
Zfp804b	A	T	5: 6,821,756 (GRCm39)	S400T	possibly damaging	Het

Other mutations in Or5al1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01914:Or5al1	APN	2	85,990,391 (GRCm39)	missense	probably benign	0.04
IGL02071:Or5al1	APN	2	85,990,219 (GRCm39)	missense	probably benign
IGL02935:Or5al1	APN	2	85,990,714 (GRCm39)	unclassified	probably benign
IGL03152:Or5al1	APN	2	85,990,030 (GRCm39)	missense	possibly damaging	0.95
R0089:Or5al1	UTSW	2	85,989,918 (GRCm39)	missense	possibly damaging	0.89
R1419:Or5al1	UTSW	2	85,989,773 (GRCm39)	makesense	probably null
R1699:Or5al1	UTSW	2	85,990,280 (GRCm39)	missense	probably benign
R3162:Or5al1	UTSW	2	85,990,439 (GRCm39)	missense	probably benign	0.03
R3162:Or5al1	UTSW	2	85,990,439 (GRCm39)	missense	probably benign	0.03
R3609:Or5al1	UTSW	2	85,989,976 (GRCm39)	missense	probably benign	0.00
R3953:Or5al1	UTSW	2	85,990,282 (GRCm39)	missense	probably benign	0.02
R3955:Or5al1	UTSW	2	85,990,282 (GRCm39)	missense	probably benign	0.02
R3956:Or5al1	UTSW	2	85,990,282 (GRCm39)	missense	probably benign	0.02
R3957:Or5al1	UTSW	2	85,990,282 (GRCm39)	missense	probably benign	0.02
R4771:Or5al1	UTSW	2	85,990,417 (GRCm39)	missense	probably benign	0.38
R5685:Or5al1	UTSW	2	85,990,139 (GRCm39)	missense	probably damaging	0.99
R6241:Or5al1	UTSW	2	85,990,380 (GRCm39)	missense	probably damaging	1.00
R6324:Or5al1	UTSW	2	85,989,800 (GRCm39)	missense	probably benign
R6678:Or5al1	UTSW	2	85,990,529 (GRCm39)	missense	probably damaging	0.98
R6921:Or5al1	UTSW	2	85,990,196 (GRCm39)	missense	probably benign	0.02
R7215:Or5al1	UTSW	2	85,989,800 (GRCm39)	missense	probably benign
R7386:Or5al1	UTSW	2	85,989,874 (GRCm39)	missense	possibly damaging	0.83
R8030:Or5al1	UTSW	2	85,990,586 (GRCm39)	missense	probably benign
R9694:Or5al1	UTSW	2	85,990,681 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCAAGCCCCACAGTGAATC -3'
(R):5'- GAGCTTCAGGTCAGTCTCTTCG -3'

Sequencing Primer
(F):5'- CCATAAATGTATGTGCTGGTGATGAC -3'
(R):5'- CATCTACCTAACTAGTGTTGTGGG -3'

Posted On

2014-06-23