Mutagenetix > Incidental Mutation

Incidental Mutation 'R1503:Or2aj5'

169494

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

039553-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1503 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19424475-19425416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19425062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 119 (S119P)

Ref Sequence

ENSEMBL: ENSMUSP00000151806 (fasta)

Gene Model

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

AlphaFold

Q8VGL6

Predicted Effect

probably benign
Transcript: ENSMUST00000078603
AA Change: S118P

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000077674
Gene: ENSMUSG00000062245
AA Change: S118P

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 benign
Transcript: ENSMUST00000206562
AA Change: S118P

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000218837
AA Change: S119P

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.0%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Atf7ip	G	T	6: 136,583,865 (GRCm39)	V1299L	probably damaging	Het
Atp12a	A	T	14: 56,610,881 (GRCm39)	N342Y	probably damaging	Het
Atp8b5	G	A	4: 43,344,430 (GRCm39)	G439D	probably damaging	Het
Bpifb2	G	A	2: 153,731,430 (GRCm39)	D269N	possibly damaging	Het
Btd	T	G	14: 31,389,612 (GRCm39)	C444W	probably damaging	Het
Cacna1a	A	G	8: 85,328,575 (GRCm39)	D1624G	probably benign	Het
Carmil3	A	C	14: 55,735,737 (GRCm39)	N563T	probably damaging	Het
Cars1	T	C	7: 143,122,726 (GRCm39)	R538G	probably benign	Het
Catsperd	A	G	17: 56,961,525 (GRCm39)	K416E	possibly damaging	Het
Cc2d2a	A	T	5: 43,852,581 (GRCm39)	Y386F	probably damaging	Het
Ccpg1	A	G	9: 72,906,760 (GRCm39)	N66S	probably benign	Het
Cd48	T	A	1: 171,523,415 (GRCm39)	L86H	probably damaging	Het
Cdan1	A	T	2: 120,560,056 (GRCm39)	H369Q	probably damaging	Het
Chil4	T	C	3: 106,113,350 (GRCm39)	D189G	probably benign	Het
Cit	T	A	5: 116,011,959 (GRCm39)	Y189N	possibly damaging	Het
Cntn3	G	A	6: 102,441,526 (GRCm39)	Q7*	probably null	Het
Csn1s2a	A	T	5: 87,923,658 (GRCm39)	I5F	possibly damaging	Het
Ctnnd1	C	T	2: 84,435,523 (GRCm39)		probably null	Het
Dmxl2	A	T	9: 54,354,272 (GRCm39)	Y391*	probably null	Het
Dnah12	T	C	14: 26,495,649 (GRCm39)	S1426P	probably damaging	Het
Dnhd1	T	G	7: 105,342,867 (GRCm39)	S1404A	possibly damaging	Het
Drosha	T	A	15: 12,848,159 (GRCm39)	C484S	probably benign	Het
Dsg4	A	T	18: 20,582,736 (GRCm39)	I125F	probably damaging	Het
Egfr	T	A	11: 16,819,301 (GRCm39)	M277K	possibly damaging	Het
Eml5	G	T	12: 98,797,433 (GRCm39)	L1059I	probably damaging	Het
Erbb4	G	T	1: 68,385,705 (GRCm39)	H295N	probably benign	Het
Etl4	T	G	2: 20,748,685 (GRCm39)	V139G	possibly damaging	Het
Fhip1a	T	A	3: 85,579,784 (GRCm39)	Y807F	possibly damaging	Het
Frem3	A	T	8: 81,413,647 (GRCm39)	E1969D	probably damaging	Het
Gdf3	T	A	6: 122,583,296 (GRCm39)	D357V	probably damaging	Het
Gimap8	T	A	6: 48,624,463 (GRCm39)		probably null	Het
Gml2	C	A	15: 74,693,201 (GRCm39)	S68*	probably null	Het
Gphn	A	G	12: 78,551,403 (GRCm39)	I248V	possibly damaging	Het
Greb1	A	T	12: 16,774,820 (GRCm39)	Y192*	probably null	Het
Hmbs	A	C	9: 44,248,729 (GRCm39)	L215W	probably benign	Het
Iglon5	T	A	7: 43,128,449 (GRCm39)	T123S	probably benign	Het
Ints2	C	T	11: 86,117,607 (GRCm39)	R705H	probably damaging	Het
Ints8	A	T	4: 11,245,842 (GRCm39)	L212Q	probably damaging	Het
Itgad	A	G	7: 127,797,293 (GRCm39)	Y846C	probably benign	Het
Kcnj1	A	G	9: 32,307,788 (GRCm39)	T51A	probably damaging	Het
Kif9	A	T	9: 110,339,506 (GRCm39)	K449N	possibly damaging	Het
Kifbp	A	G	10: 62,395,187 (GRCm39)	V485A	probably damaging	Het
Klk1b11	G	A	7: 43,428,333 (GRCm39)	W241*	probably null	Het
Krt32	T	C	11: 99,974,936 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,200,923 (GRCm39)	F513S	probably damaging	Het
Mapk8ip3	A	T	17: 25,123,897 (GRCm39)	S571T	probably damaging	Het
Mcam	C	T	9: 44,052,588 (GRCm39)	R606C	probably damaging	Het
Mtss1	T	C	15: 58,823,521 (GRCm39)	N282S	probably damaging	Het
Myh13	T	A	11: 67,244,500 (GRCm39)	D1012E	probably benign	Het
Myo16	A	G	8: 10,552,817 (GRCm39)	T952A	probably benign	Het
Neb	T	C	2: 52,188,632 (GRCm39)	D874G	probably damaging	Het
Nek11	A	G	9: 105,040,403 (GRCm39)	Y553H	probably damaging	Het
Nr2c2	T	A	6: 92,082,312 (GRCm39)	V9D	probably benign	Het
Nxf1	T	A	19: 8,739,800 (GRCm39)	F51L	probably benign	Het
Or1e1f	T	G	11: 73,855,394 (GRCm39)		probably null	Het
Or1j15	A	T	2: 36,458,885 (GRCm39)	I92F	probably damaging	Het
Or4c35	T	C	2: 89,808,872 (GRCm39)	V250A	probably damaging	Het
Or5bw2	A	G	7: 6,573,470 (GRCm39)	N160S	probably damaging	Het
Or6s1	A	G	14: 51,308,191 (GRCm39)	S220P	probably damaging	Het
Or6z6	T	C	7: 6,491,178 (GRCm39)	I232V	probably damaging	Het
Pcdhb8	A	T	18: 37,489,572 (GRCm39)	N76Y	probably damaging	Het
Pdzrn4	T	A	15: 92,297,685 (GRCm39)	F217I	probably damaging	Het
Ppp1r16a	T	A	15: 76,578,599 (GRCm39)	H434Q	probably benign	Het
Prpf19	T	A	19: 10,878,386 (GRCm39)	F291I	possibly damaging	Het
R3hdm2	G	T	10: 127,307,695 (GRCm39)	E319*	probably null	Het
Sel1l3	A	G	5: 53,295,271 (GRCm39)	Y777H	probably damaging	Het
Serpinb5	G	A	1: 106,798,019 (GRCm39)	A3T	possibly damaging	Het
Skp2	C	A	15: 9,127,998 (GRCm39)	V88F	probably damaging	Het
Slc25a16	T	C	10: 62,764,155 (GRCm39)	Y71H	probably damaging	Het
Slc6a6	T	A	6: 91,717,973 (GRCm39)	I304N	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sox17	C	A	1: 4,562,151 (GRCm39)	G222C	probably damaging	Het
Trmu	T	A	15: 85,779,220 (GRCm39)	V289E	possibly damaging	Het
Vdac2	A	G	14: 21,887,945 (GRCm39)	E96G	probably damaging	Het
Wdhd1	A	T	14: 47,484,857 (GRCm39)	D885E	probably benign	Het
Zfp646	A	G	7: 127,479,308 (GRCm39)	N495S	probably damaging	Het
Zfp663	T	C	2: 165,194,573 (GRCm39)	T549A	probably damaging	Het
Zfp935	G	A	13: 62,602,951 (GRCm39)	A83V	possibly damaging	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
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
R5591:Or2aj5	UTSW	16	19,424,608 (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'- ACTTCAACATGGCAGGGACTTCAC -3'
(R):5'- TCCACAGGGATTCTCGACTCCATAC -3'

Sequencing Primer
(F):5'- CTTCACAGAAAAAGTGATCAATGGC -3'
(R):5'- GATTCTCGACTCCATACCCCAATG -3'

Posted On

2014-04-13