Mutagenetix > Incidental Mutation

Incidental Mutation 'R6033:Or5al6'

480494

Institutional Source

Beutler Lab

Gene Symbol

Or5al6

Ensembl Gene

ENSMUSG00000075203

Gene Name

olfactory receptor family 5 subfamily AL member 6

Synonyms

Olfr1040, MOR185-12, GA_x6K02T2Q125-47615732-47614791

MMRRC Submission

044205-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R6033 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85976135-85977076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85976613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 155 (V155E)

Ref Sequence

ENSEMBL: ENSMUSP00000097493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099909]

AlphaFold

A2ARY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099909
AA Change: V155E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097493
Gene: ENSMUSG00000075203
AA Change: V155E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	8.2e-48	PFAM
Pfam:7tm_1	41	290	5.1e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215884

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.9%
20x: 89.0%

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]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	A	8: 84,645,551 (GRCm39)	V58E	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alas1	A	G	9: 106,118,403 (GRCm39)	S240P	probably damaging	Het
Alox12e	C	T	11: 70,206,839 (GRCm39)	G616D	probably benign	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Ccdc150	G	T	1: 54,324,787 (GRCm39)		probably null	Het
Chct1	A	G	11: 85,069,198 (GRCm39)	E72G	probably damaging	Het
Cmtm8	T	C	9: 114,625,141 (GRCm39)	T97A	probably damaging	Het
Cnmd	T	C	14: 79,898,945 (GRCm39)	S36G	probably benign	Het
Dnah3	A	C	7: 119,670,870 (GRCm39)	N609K	probably benign	Het
Dph1	C	T	11: 75,082,023 (GRCm39)		probably benign	Het
Drosha	G	A	15: 12,926,085 (GRCm39)	A1225T	probably benign	Het
Eid3	T	A	10: 82,703,487 (GRCm39)	I316K	probably damaging	Het
Erich6	A	G	3: 58,530,622 (GRCm39)	L449S	probably benign	Het
Fhod1	T	C	8: 106,063,066 (GRCm39)		probably benign	Het
Glra1	A	G	11: 55,418,245 (GRCm39)	Y250H	probably damaging	Het
Hivep1	A	G	13: 42,310,583 (GRCm39)	E941G	probably benign	Het
Homer2	A	C	7: 81,268,427 (GRCm39)	S78A	possibly damaging	Het
Ica1	T	A	6: 8,630,799 (GRCm39)		probably null	Het
Ifna12	T	C	4: 88,521,154 (GRCm39)	E131G	possibly damaging	Het
Igbp1b	T	C	6: 138,635,207 (GRCm39)	Y79C	probably damaging	Het
Incenp	C	T	19: 9,850,061 (GRCm39)	V871I	probably damaging	Het
Jaml	G	A	9: 45,000,008 (GRCm39)	G60D	probably damaging	Het
Kcp	C	T	6: 29,493,193 (GRCm39)	C110Y	probably damaging	Het
Manba	T	C	3: 135,255,022 (GRCm39)	V460A	probably benign	Het
Myrfl	A	T	10: 116,685,006 (GRCm39)	C125S	probably benign	Het
Ncan	T	C	8: 70,565,240 (GRCm39)	D229G	probably damaging	Het
Ncoa4-ps	A	G	12: 119,225,475 (GRCm39)		noncoding transcript	Het
Nlrp10	A	T	7: 108,523,784 (GRCm39)	D565E	probably benign	Het
Npas2	T	C	1: 39,377,261 (GRCm39)	V541A	probably damaging	Het
Nsg2	G	A	11: 32,005,058 (GRCm39)	V87M	possibly damaging	Het
Prkd2	C	T	7: 16,599,639 (GRCm39)	R701C	probably damaging	Het
Prr5	A	G	15: 84,626,126 (GRCm39)	E67G	probably damaging	Het
Prss36	T	C	7: 127,533,739 (GRCm39)	R22G	probably benign	Het
Psmd1	T	C	1: 86,064,817 (GRCm39)	Y950H	probably damaging	Het
Slc45a4	G	A	15: 73,453,825 (GRCm39)	A716V	probably damaging	Het
Slc46a1	T	C	11: 78,356,833 (GRCm39)		probably null	Het
Slc6a5	T	C	7: 49,609,099 (GRCm39)	I768T	probably benign	Het
Slco6c1	C	T	1: 97,009,041 (GRCm39)		probably null	Het
Taar2	A	T	10: 23,816,874 (GRCm39)	H138L	probably benign	Het
Taf2	A	C	15: 54,922,297 (GRCm39)	L330R	probably damaging	Het
Tgm5	T	C	2: 120,901,210 (GRCm39)		probably null	Het
Tmed4	A	T	11: 6,224,491 (GRCm39)	Y56*	probably null	Het
Tmem156	A	T	5: 65,232,964 (GRCm39)	F135L	probably benign	Het
Ttll6	T	C	11: 96,025,713 (GRCm39)	S65P	probably damaging	Het
Ttn	C	T	2: 76,557,171 (GRCm39)	G28199R	probably damaging	Het
Ubn2	T	A	6: 38,447,159 (GRCm39)		probably null	Het
Unc80	A	T	1: 66,512,419 (GRCm39)	T110S	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,137 (GRCm39)	V809E	probably damaging	Het
Zbtb2	A	G	10: 4,318,599 (GRCm39)	F476L	probably damaging	Het
Zbtb24	T	C	10: 41,340,397 (GRCm39)	F498L	probably damaging	Het
Zfp280d	T	A	9: 72,236,419 (GRCm39)	L494Q	probably damaging	Het
Zfp281	T	C	1: 136,554,464 (GRCm39)	S481P	probably benign	Het

Other mutations in Or5al6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Or5al6	APN	2	85,976,955 (GRCm39)	missense	probably benign	0.22
IGL01106:Or5al6	APN	2	85,976,560 (GRCm39)	missense	probably benign	0.09
IGL02193:Or5al6	APN	2	85,977,059 (GRCm39)	missense	probably benign	0.00
IGL02730:Or5al6	APN	2	85,976,443 (GRCm39)	missense	probably benign	0.05
IGL03032:Or5al6	APN	2	85,977,043 (GRCm39)	missense	probably damaging	1.00
IGL03165:Or5al6	APN	2	85,976,412 (GRCm39)	missense	possibly damaging	0.91
R0388:Or5al6	UTSW	2	85,976,974 (GRCm39)	missense	probably damaging	1.00
R2971:Or5al6	UTSW	2	85,976,908 (GRCm39)	missense	probably damaging	0.96
R4168:Or5al6	UTSW	2	85,976,523 (GRCm39)	missense	probably benign	0.03
R4532:Or5al6	UTSW	2	85,976,274 (GRCm39)	missense	possibly damaging	0.77
R5024:Or5al6	UTSW	2	85,976,877 (GRCm39)	missense	probably damaging	1.00
R5175:Or5al6	UTSW	2	85,976,301 (GRCm39)	missense	probably damaging	1.00
R5574:Or5al6	UTSW	2	85,976,535 (GRCm39)	missense	probably damaging	1.00
R6033:Or5al6	UTSW	2	85,976,613 (GRCm39)	missense	probably damaging	0.97
R6137:Or5al6	UTSW	2	85,976,313 (GRCm39)	missense	probably benign
R6945:Or5al6	UTSW	2	85,976,428 (GRCm39)	missense	probably damaging	1.00
R6980:Or5al6	UTSW	2	85,976,681 (GRCm39)	nonsense	probably null
R7065:Or5al6	UTSW	2	85,976,345 (GRCm39)	missense	probably damaging	1.00
R8264:Or5al6	UTSW	2	85,976,538 (GRCm39)	missense	probably damaging	1.00
R9039:Or5al6	UTSW	2	85,976,625 (GRCm39)	missense	probably damaging	1.00
R9224:Or5al6	UTSW	2	85,976,220 (GRCm39)	missense	probably damaging	1.00
R9745:Or5al6	UTSW	2	85,976,251 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2017-06-26