Mutagenetix > Incidental Mutation

Incidental Mutation 'R5591:Or2aj5'

437549

Institutional Source

Beutler Lab

Gene Symbol

Or2aj5

Ensembl Gene

ENSMUSG00000062245

Gene Name

olfactory receptor family 2 subfamily AJ member 5

Synonyms

Olfr170, MOR273-2, GA_x54KRFPKG5P-16052703-16051765

MMRRC Submission

043269-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19424475-19425416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19424608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 270 (Q270L)

Ref Sequence

ENSEMBL: ENSMUSP00000151806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078603] [ENSMUST00000206562] [ENSMUST00000218837]

AlphaFold

Q8VGL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000078603
AA Change: Q269L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077674
Gene: ENSMUSG00000062245
AA Change: Q269L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	308	1.5e-43	PFAM
Pfam:7tm_1	41	290	2.4e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206562
AA Change: Q269L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218837
AA Change: Q270L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.3450

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

97% (56/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh16a1	T	C	7: 44,794,076 (GRCm39)	E13G	probably null	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Bub1	A	T	2: 127,661,263 (GRCm39)	M276K	probably benign	Het
Casp14	A	T	10: 78,550,179 (GRCm39)	D156E	unknown	Het
Ccdc82	T	A	9: 13,272,822 (GRCm39)		probably null	Het
Cdc42bpb	T	C	12: 111,289,521 (GRCm39)	N436S	probably benign	Het
Cyp2j12	A	G	4: 96,029,359 (GRCm39)		probably benign	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Daxx	T	C	17: 34,130,662 (GRCm39)	S226P	probably damaging	Het
Gm3676	T	C	14: 41,365,181 (GRCm39)	Y158C	probably benign	Het
Gnai1	A	T	5: 18,476,844 (GRCm39)	I285K	probably benign	Het
Gpr179	C	T	11: 97,236,581 (GRCm39)	V417I	probably benign	Het
Helz2	C	T	2: 180,882,051 (GRCm39)	M247I	probably damaging	Het
Hmcn2	C	T	2: 31,234,059 (GRCm39)	L275F	probably damaging	Het
Ifi27l2b	A	G	12: 103,417,566 (GRCm39)	V207A	probably damaging	Het
Isg20l2	C	T	3: 87,837,731 (GRCm39)		probably benign	Het
Itga6	A	G	2: 71,670,934 (GRCm39)	D221G	probably damaging	Het
Lca5l	T	C	16: 95,979,929 (GRCm39)	Y67C	probably damaging	Het
Loxl3	T	A	6: 83,025,018 (GRCm39)	C249S	probably damaging	Het
Luc7l3	T	C	11: 94,184,060 (GRCm39)		probably benign	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mbd5	A	C	2: 49,164,681 (GRCm39)	Q958H	probably damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrm3	G	A	11: 76,140,907 (GRCm39)	R305H	probably benign	Het
Mtrex	A	T	13: 113,063,890 (GRCm39)	M1K	probably null	Het
Or10ak7	A	T	4: 118,791,658 (GRCm39)	I127K	probably damaging	Het
Or1j18	A	T	2: 36,625,244 (GRCm39)	I304F	probably benign	Het
Or2ak7	A	G	11: 58,574,951 (GRCm39)	N84S	probably benign	Het
Or2d3c	A	T	7: 106,526,489 (GRCm39)	M59K	probably damaging	Het
Or4c126	A	G	2: 89,823,751 (GRCm39)	T5A	possibly damaging	Het
Or51q1	G	T	7: 103,629,320 (GRCm39)	R307L	probably benign	Het
P3h3	C	T	6: 124,831,658 (GRCm39)		probably benign	Het
Pals2	A	G	6: 50,157,159 (GRCm39)	S276G	probably benign	Het
Plekhg3	C	T	12: 76,607,066 (GRCm39)	S42L	possibly damaging	Het
Polq	A	G	16: 36,832,247 (GRCm39)		probably benign	Het
Pramel16	T	C	4: 143,675,377 (GRCm39)	Y483C	probably damaging	Het
Pramel28	G	T	4: 143,691,530 (GRCm39)	L398I	probably damaging	Het
Raph1	G	A	1: 60,540,905 (GRCm39)		probably benign	Het
Rnf144b	G	A	13: 47,396,430 (GRCm39)		probably null	Het
Ryr2	A	G	13: 11,609,900 (GRCm39)	S4309P	probably benign	Het
Sash1	A	T	10: 8,601,482 (GRCm39)	S1158T	probably benign	Het
Sim2	T	C	16: 93,898,048 (GRCm39)	V94A	probably damaging	Het
Sirt5	A	G	13: 43,525,317 (GRCm39)	D42G	possibly damaging	Het
Smarcal1	A	T	1: 72,630,412 (GRCm39)	K155N	probably damaging	Het
Spam1	A	G	6: 24,800,545 (GRCm39)	Y428C	probably damaging	Het
Spef2	T	C	15: 9,583,922 (GRCm39)	N1655S	probably benign	Het
Sympk	A	G	7: 18,787,964 (GRCm39)	E1160G	probably damaging	Het
Tmem192	A	G	8: 65,418,254 (GRCm39)	Y168C	possibly damaging	Het
Ttn	T	A	2: 76,540,012 (GRCm39)	M25998L	probably benign	Het
Usp48	A	G	4: 137,379,963 (GRCm39)		probably benign	Het
Vamp4	A	G	1: 162,415,811 (GRCm39)	I71V	possibly damaging	Het
Washc5	C	A	15: 59,241,012 (GRCm39)	D108Y	probably damaging	Het
Wdfy4	T	A	14: 32,829,087 (GRCm39)	H1043L	probably benign	Het
Zcchc14	C	T	8: 122,332,187 (GRCm39)		probably benign	Het
Zfp407	A	G	18: 84,579,262 (GRCm39)	F617S	probably damaging	Het
Zfp869	T	A	8: 70,160,342 (GRCm39)	N77I	probably benign	Het

Other mutations in Or2aj5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01671:Or2aj5	APN	16	19,424,671 (GRCm39)	missense	probably benign	0.00
IGL02002:Or2aj5	APN	16	19,425,300 (GRCm39)	missense	possibly damaging	0.91
IGL02537:Or2aj5	APN	16	19,424,549 (GRCm39)	missense	probably damaging	1.00
IGL02881:Or2aj5	APN	16	19,425,050 (GRCm39)	missense	probably damaging	1.00
IGL03189:Or2aj5	APN	16	19,425,341 (GRCm39)	missense	probably benign
R0012:Or2aj5	UTSW	16	19,425,190 (GRCm39)	missense	probably benign	0.30
R0619:Or2aj5	UTSW	16	19,425,022 (GRCm39)	missense	probably damaging	1.00
R0764:Or2aj5	UTSW	16	19,425,182 (GRCm39)	missense	probably damaging	1.00
R1387:Or2aj5	UTSW	16	19,424,777 (GRCm39)	missense	probably damaging	1.00
R1430:Or2aj5	UTSW	16	19,424,752 (GRCm39)	missense	probably damaging	1.00
R1503:Or2aj5	UTSW	16	19,425,062 (GRCm39)	missense	probably benign	0.19
R1878:Or2aj5	UTSW	16	19,424,501 (GRCm39)	missense	probably benign
R1989:Or2aj5	UTSW	16	19,425,407 (GRCm39)	missense	probably benign	0.00
R2012:Or2aj5	UTSW	16	19,424,881 (GRCm39)	missense	probably benign	0.22
R3890:Or2aj5	UTSW	16	19,425,205 (GRCm39)	missense	probably damaging	1.00
R3891:Or2aj5	UTSW	16	19,425,205 (GRCm39)	missense	probably damaging	1.00
R6158:Or2aj5	UTSW	16	19,424,675 (GRCm39)	missense	probably damaging	1.00
R6297:Or2aj5	UTSW	16	19,424,680 (GRCm39)	missense	possibly damaging	0.81
R6512:Or2aj5	UTSW	16	19,425,109 (GRCm39)	missense	probably damaging	1.00
R6962:Or2aj5	UTSW	16	19,424,672 (GRCm39)	missense	probably benign	0.00
R7252:Or2aj5	UTSW	16	19,425,249 (GRCm39)	missense	probably damaging	0.99
R7605:Or2aj5	UTSW	16	19,425,022 (GRCm39)	missense	probably damaging	1.00
R7687:Or2aj5	UTSW	16	19,424,485 (GRCm39)	missense	probably benign
R8302:Or2aj5	UTSW	16	19,425,116 (GRCm39)	missense	probably benign	0.05
R8991:Or2aj5	UTSW	16	19,424,511 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGGGTACAATTACTCATTACTCTG -3'
(R):5'- GATGGTCCCATTTTCCATGATC -3'

Sequencing Primer
(F):5'- TGAAACAAGCTTAAGAATGTGAGTC -3'
(R):5'- GTCCCATTTTCCATGATCTCTATATC -3'

Posted On

2016-10-26