Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Or2aj4'

715734

Institutional Source

Beutler Lab

Gene Symbol

Or2aj4

Ensembl Gene

ENSMUSG00000068535

Gene Name

olfactory receptor family 2 subfamily AJ member 4

Synonyms

GA_x54KRFPKG5P-16014972-16014031, MOR273-3P, Olfr169

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R9475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19564889-19571809 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19566520 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 121 (D121G)

Ref Sequence

ENSEMBL: ENSMUSP00000149087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090062] [ENSMUST00000215040] [ENSMUST00000215476] [ENSMUST00000216070]

AlphaFold

Q7TS53

Predicted Effect

probably benign
Transcript: ENSMUST00000090062
AA Change: D121G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000087516
Gene: ENSMUSG00000068535
AA Change: D121G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	308	1.3e-45	PFAM
Pfam:7TM_GPCR_Srsx	35	303	2e-6	PFAM
Pfam:7tm_1	41	290	7.4e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215040
AA Change: D121G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000215476
AA Change: D121G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000216070
AA Change: D121G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 46,016,468 (GRCm38)	W243R	probably damaging	Het
Ablim1	T	G	19: 57,239,180 (GRCm38)	K18Q	probably benign	Het
Adamts18	T	A	8: 113,777,938 (GRCm38)	N174Y	possibly damaging	Het
Afg2a	T	C	3: 37,431,909 (GRCm38)	V260A	probably benign	Het
Agbl2	A	G	2: 90,784,093 (GRCm38)	H23R	probably benign	Het
Akap6	T	G	12: 53,010,552 (GRCm38)	Y934D	probably damaging	Het
Alas1	C	T	9: 106,234,062 (GRCm38)	S635N	probably benign	Het
Ankrd24	A	G	10: 81,642,299 (GRCm38)		probably null	Het
Atp6v0a4	A	G	6: 38,060,982 (GRCm38)	L560P	probably damaging	Het
Cacng1	C	T	11: 107,716,292 (GRCm38)	V34M	possibly damaging	Het
Clcn3	C	T	8: 60,934,517 (GRCm38)	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,799,135 (GRCm38)	F160S	probably damaging	Het
Ctnnd2	A	G	15: 30,881,130 (GRCm38)	S719G	probably damaging	Het
Exosc2	G	A	2: 31,674,743 (GRCm38)	V107I	probably benign	Het
Fam83b	C	A	9: 76,491,803 (GRCm38)	V673F	probably benign	Het
Fras1	T	C	5: 96,780,070 (GRCm38)	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,998,660 (GRCm38)	L289H	probably damaging	Het
Garem1	T	C	18: 21,148,313 (GRCm38)	I329V	probably benign	Het
Gli3	G	A	13: 15,725,711 (GRCm38)	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,574,361 (GRCm38)	F72S	possibly damaging	Het
Hao1	T	A	2: 134,548,261 (GRCm38)	M53L	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277 (GRCm38)		probably benign	Het
Iqcm	A	G	8: 75,753,455 (GRCm38)	E347G	probably damaging	Het
Itpr3	G	A	17: 27,118,677 (GRCm38)		probably benign	Het
Kcnrg	A	G	14: 61,607,657 (GRCm38)	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,235,346 (GRCm38)	G524S	probably benign	Het
Lrrn1	A	T	6: 107,568,300 (GRCm38)	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849 (GRCm38)	D3701G	possibly damaging	Het
Mtmr2	A	G	9: 13,805,471 (GRCm38)	T623A	probably benign	Het
Ndst4	C	A	3: 125,714,647 (GRCm38)	S287*	probably null	Het
Ntrk3	A	C	7: 78,302,732 (GRCm38)	M579R	probably benign	Het
Oas1a	G	A	5: 120,899,254 (GRCm38)	L237F	probably damaging	Het
Or5bw2	A	T	7: 6,570,819 (GRCm38)	Y276F	probably damaging	Het
Or7e166	T	C	9: 19,713,643 (GRCm38)	M272T	probably benign	Het
Paqr5	T	A	9: 61,956,225 (GRCm38)	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,007,538 (GRCm38)	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,167,927 (GRCm38)	N240T	possibly damaging	Het
Plbd2	G	A	5: 120,494,380 (GRCm38)	Q186*	probably null	Het
Plce1	G	A	19: 38,777,893 (GRCm38)	E2121K	possibly damaging	Het
Ppargc1a	C	A	5: 51,495,738 (GRCm38)	G161C	probably damaging	Het
Ptprk	T	C	10: 28,334,480 (GRCm38)	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 37,878,114 (GRCm38)		probably benign	Het
Rpap2	T	A	5: 107,620,589 (GRCm38)	L431Q	probably damaging	Het
Rslcan18	T	A	13: 67,102,064 (GRCm38)	K160*	probably null	Het
Sema7a	T	C	9: 57,954,905 (GRCm38)	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,753,027 (GRCm38)	L741F	probably damaging	Het
Shank1	G	A	7: 44,312,918 (GRCm38)	S71N	unknown	Het
Skic2	A	T	17: 34,841,102 (GRCm38)	D897E	probably benign	Het
Skint6	C	T	4: 112,806,840 (GRCm38)		probably null	Het
Slc35f3	T	C	8: 126,382,254 (GRCm38)	S181P	probably damaging	Het
Slc4a9	A	T	18: 36,529,216 (GRCm38)	E127V	probably null	Het
Speg	C	T	1: 75,388,091 (GRCm38)	T372I	probably damaging	Het
Syce1l	A	G	8: 113,655,103 (GRCm38)	T204A	probably benign	Het
Tas2r138	T	A	6: 40,612,458 (GRCm38)	M285L	probably benign	Het
Tbc1d10a	G	C	11: 4,213,604 (GRCm38)	K285N	probably damaging	Het
Trim9	T	A	12: 70,346,454 (GRCm38)	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,209,280 (GRCm38)	S1293P	probably benign	Het
Uaca	C	T	9: 60,872,216 (GRCm38)	T1295M	possibly damaging	Het
Ubald1	G	T	16: 4,875,569 (GRCm38)	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,216,260 (GRCm38)	R201C	probably damaging	Het
Vps45	T	G	3: 96,042,925 (GRCm38)	T231P	probably damaging	Het
Wdr17	A	T	8: 54,635,477 (GRCm38)	D1186E	probably benign	Het
Zfp534	G	A	4: 147,682,274 (GRCm38)	T8I	probably benign	Het
Zfp68	T	C	5: 138,607,255 (GRCm38)	N269D	probably benign	Het

Other mutations in Or2aj4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Or2aj4	APN	16	19,566,208 (GRCm38)	missense	probably damaging	1.00
IGL01862:Or2aj4	APN	16	19,566,676 (GRCm38)	missense	probably damaging	1.00
IGL02064:Or2aj4	APN	16	19,566,548 (GRCm38)	missense	probably damaging	1.00
IGL03061:Or2aj4	APN	16	19,566,713 (GRCm38)	missense	possibly damaging	0.87
IGL03136:Or2aj4	APN	16	19,566,353 (GRCm38)	missense	probably damaging	1.00
R0066:Or2aj4	UTSW	16	19,566,049 (GRCm38)	missense	probably damaging	1.00
R0243:Or2aj4	UTSW	16	19,566,294 (GRCm38)	missense	probably damaging	0.97
R0629:Or2aj4	UTSW	16	19,565,980 (GRCm38)	missense	possibly damaging	0.88
R1644:Or2aj4	UTSW	16	19,566,406 (GRCm38)	missense	probably benign	0.11
R1943:Or2aj4	UTSW	16	19,566,437 (GRCm38)	missense	probably benign	0.19
R3016:Or2aj4	UTSW	16	19,566,391 (GRCm38)	missense	probably damaging	1.00
R4290:Or2aj4	UTSW	16	19,566,244 (GRCm38)	missense	possibly damaging	0.88
R4689:Or2aj4	UTSW	16	19,566,513 (GRCm38)	nonsense	probably null
R4791:Or2aj4	UTSW	16	19,566,663 (GRCm38)	missense	possibly damaging	0.50
R5497:Or2aj4	UTSW	16	19,566,330 (GRCm38)	missense	probably benign	0.10
R5843:Or2aj4	UTSW	16	19,566,583 (GRCm38)	missense	probably damaging	1.00
R6106:Or2aj4	UTSW	16	19,566,259 (GRCm38)	missense	probably damaging	0.99
R6249:Or2aj4	UTSW	16	19,565,975 (GRCm38)	missense	probably damaging	0.99
R7895:Or2aj4	UTSW	16	19,566,722 (GRCm38)	nonsense	probably null
R9284:Or2aj4	UTSW	16	19,566,607 (GRCm38)	missense	probably damaging	1.00
R9335:Or2aj4	UTSW	16	19,566,763 (GRCm38)	missense	probably benign	0.32
R9364:Or2aj4	UTSW	16	19,565,972 (GRCm38)	missense	possibly damaging	0.68
R9404:Or2aj4	UTSW	16	19,565,981 (GRCm38)	missense	probably benign	0.01
R9554:Or2aj4	UTSW	16	19,565,972 (GRCm38)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- TCAACATGGCAGGGACTTC -3'
(R):5'- AGGGATTCTCGACTCCATACCC -3'

Sequencing Primer
(F):5'- TCGCAGAAAAAGTGATCAATGGCTC -3'
(R):5'- GGATTCTCGACTCCATACCCCAATG -3'

Posted On

2022-06-15