Mutagenetix > Incidental Mutation

Incidental Mutation 'R6130:Or2ak5'

487098

Institutional Source

Beutler Lab

Gene Symbol

Or2ak5

Ensembl Gene

ENSMUSG00000108265

Gene Name

olfactory receptor family 2 subfamily AK member 5

Synonyms

Olfr318, MOR285-1, GA_x6K02T2NKPP-692816-693736

MMRRC Submission

044277-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R6130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58610895-58611920 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58611133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 247 (V247A)

Ref Sequence

ENSEMBL: ENSMUSP00000149053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000189911] [ENSMUST00000214728]

AlphaFold

Q5NCD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000189911
AA Change: V247A

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

SMART Domains

Protein: ENSMUSP00000139574
Gene: ENSMUSG00000108265
AA Change: V247A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	220	6.2e-7	PFAM
Pfam:7tm_1	41	290	7.3e-30	PFAM
Pfam:7tm_4	139	283	3.2e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213944

Predicted Effect

probably damaging
Transcript: ENSMUST00000214728
AA Change: V247A

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

Meta Mutation Damage Score

0.4092

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

96% (46/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abi3	T	A	11: 95,727,921 (GRCm39)	E90V	probably damaging	Het
Adgrv1	A	C	13: 81,575,864 (GRCm39)	V4834G	probably damaging	Het
Aen	A	T	7: 78,552,387 (GRCm39)		probably null	Het
Ankrd55	A	G	13: 112,454,980 (GRCm39)	D26G	probably damaging	Het
Antxr2	T	C	5: 98,152,131 (GRCm39)	E160G	possibly damaging	Het
Auts2	T	C	5: 131,469,061 (GRCm39)	H528R	probably damaging	Het
Casd1	A	G	6: 4,641,948 (GRCm39)	T742A	probably damaging	Het
Ccdc39	T	C	3: 33,895,341 (GRCm39)		probably null	Het
Ctla4	T	C	1: 60,951,650 (GRCm39)	Y60H	probably damaging	Het
Dennd4b	T	C	3: 90,183,566 (GRCm39)	L935P	probably damaging	Het
Dnah6	T	A	6: 73,165,477 (GRCm39)	T543S	probably benign	Het
Dnai3	A	C	3: 145,748,559 (GRCm39)	Y852D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Fdxacb1	C	T	9: 50,683,902 (GRCm39)	R420*	probably null	Het
Flg	A	G	3: 93,200,023 (GRCm39)		probably benign	Het
Fpr1	T	A	17: 18,097,897 (GRCm39)	I31F	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gsta1	T	A	9: 78,149,847 (GRCm39)	F220Y	probably damaging	Het
Hmg20a	T	A	9: 56,395,891 (GRCm39)		probably null	Het
Igf2bp1	A	C	11: 95,864,846 (GRCm39)	L201R	probably damaging	Het
Jph3	G	A	8: 122,479,826 (GRCm39)	R168H	probably damaging	Het
Kif1a	T	A	1: 92,964,623 (GRCm39)	I1318F	probably damaging	Het
Lamc2	T	C	1: 153,012,523 (GRCm39)	N717S	probably benign	Het
Lepr	A	T	4: 101,622,569 (GRCm39)	S450C	probably damaging	Het
Muc16	A	G	9: 18,501,994 (GRCm39)	V6535A	probably damaging	Het
Myom3	A	G	4: 135,489,882 (GRCm39)	T18A	probably benign	Het
Nlrp5	A	G	7: 23,103,598 (GRCm39)	K22E	probably benign	Het
Obscn	A	C	11: 58,968,771 (GRCm39)	S2534A	possibly damaging	Het
Or1j21	A	T	2: 36,684,055 (GRCm39)	D269V	probably benign	Het
Pcdhga8	T	A	18: 37,860,580 (GRCm39)	N545K	possibly damaging	Het
Pcsk5	A	T	19: 17,488,920 (GRCm39)	Y967N	probably damaging	Het
Robo2	C	T	16: 73,717,570 (GRCm39)	G100S	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Saxo4	G	A	19: 10,455,128 (GRCm39)	P233L	probably benign	Het
Scap	A	G	9: 110,209,447 (GRCm39)	T707A	possibly damaging	Het
Scarf1	A	G	11: 75,416,565 (GRCm39)	Q669R	probably benign	Het
Scin	T	C	12: 40,119,435 (GRCm39)	D531G	probably benign	Het
Sh2b3	T	C	5: 121,953,626 (GRCm39)		probably null	Het
Slco1a6	T	C	6: 142,032,155 (GRCm39)	S657G	probably benign	Het
Stil	T	A	4: 114,887,058 (GRCm39)		probably null	Het
Syna	T	A	5: 134,587,122 (GRCm39)	Q609L	possibly damaging	Het
Tmem59l	A	G	8: 70,937,255 (GRCm39)	S271P	probably damaging	Het
Tns2	A	G	15: 102,019,676 (GRCm39)	E522G	probably damaging	Het
Trappc6a	G	A	7: 19,249,219 (GRCm39)	A149T	probably benign	Het
Trim21	A	T	7: 102,212,498 (GRCm39)	L156H	possibly damaging	Het
Trpv3	A	G	11: 73,187,309 (GRCm39)	R714G	possibly damaging	Het
Zfp87	T	A	13: 74,520,460 (GRCm39)	Q206L	possibly damaging	Het

Other mutations in Or2ak5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4548:Or2ak5	UTSW	11	58,611,197 (GRCm39)	missense	probably benign
R0626:Or2ak5	UTSW	11	58,611,347 (GRCm39)	missense	probably benign	0.22
R1560:Or2ak5	UTSW	11	58,611,513 (GRCm39)	nonsense	probably null
R1822:Or2ak5	UTSW	11	58,611,133 (GRCm39)	missense	probably damaging	1.00
R2334:Or2ak5	UTSW	11	58,611,288 (GRCm39)	nonsense	probably null
R3429:Or2ak5	UTSW	11	58,611,097 (GRCm39)	missense	probably damaging	1.00
R4880:Or2ak5	UTSW	11	58,611,107 (GRCm39)	missense	probably benign	0.31
R5024:Or2ak5	UTSW	11	58,611,776 (GRCm39)	missense	probably benign	0.00
R5429:Or2ak5	UTSW	11	58,611,350 (GRCm39)	missense	probably damaging	1.00
R5572:Or2ak5	UTSW	11	58,611,055 (GRCm39)	missense	probably benign	0.00
R5653:Or2ak5	UTSW	11	58,611,077 (GRCm39)	missense	probably damaging	1.00
R5655:Or2ak5	UTSW	11	58,611,077 (GRCm39)	missense	probably damaging	1.00
R6003:Or2ak5	UTSW	11	58,611,196 (GRCm39)	missense	probably benign	0.20
R7071:Or2ak5	UTSW	11	58,610,984 (GRCm39)	missense	possibly damaging	0.59
R8850:Or2ak5	UTSW	11	58,611,572 (GRCm39)	missense	probably benign	0.02
Z1186:Or2ak5	UTSW	11	58,611,922 (GRCm39)	start gained	probably benign
Z1187:Or2ak5	UTSW	11	58,611,922 (GRCm39)	start gained	probably benign
Z1188:Or2ak5	UTSW	11	58,611,922 (GRCm39)	start gained	probably benign
Z1189:Or2ak5	UTSW	11	58,611,922 (GRCm39)	start gained	probably benign
Z1190:Or2ak5	UTSW	11	58,611,922 (GRCm39)	start gained	probably benign
Z1191:Or2ak5	UTSW	11	58,611,922 (GRCm39)	start gained	probably benign
Z1192:Or2ak5	UTSW	11	58,611,922 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GACCAGCCTCCATATCAGTC -3'
(R):5'- TGAAGACACGTCCCAGTATGAG -3'

Sequencing Primer
(F):5'- AGCCTCCATATCAGTCCTGAC -3'
(R):5'- ATGAGCATACAGTCCTCGTG -3'

Posted On

2017-10-10