Mutagenetix > Incidental Mutation

Incidental Mutation 'R0629:Or2aj4'

57781

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

038818-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0629 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19384690-19385631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19384730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 301 (V301E)

Ref Sequence

ENSEMBL: ENSMUSP00000150528 (fasta)

Gene Model

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

AlphaFold

Q7TS53

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090062
AA Change: V301E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087516
Gene: ENSMUSG00000068535
AA Change: V301E

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

possibly damaging
Transcript: ENSMUST00000215040
AA Change: V301E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215476
AA Change: V301E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216070
AA Change: V301E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

100% (66/66)

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
Aars2	A	T	17: 45,818,473 (GRCm39)	D86V	probably damaging	Het
Adamts14	G	A	10: 61,047,403 (GRCm39)	Q733*	probably null	Het
Adcy10	A	G	1: 165,370,674 (GRCm39)	D651G	probably damaging	Het
Apcdd1	T	A	18: 63,067,041 (GRCm39)	C52S	probably damaging	Het
Bclaf1	T	C	10: 20,209,172 (GRCm39)	S463P	probably damaging	Het
Cabcoco1	T	C	10: 68,352,108 (GRCm39)	Y68C	probably damaging	Het
Cacna1f	G	A	X: 7,486,673 (GRCm39)	S888N	probably damaging	Het
Cacna1g	A	G	11: 94,300,369 (GRCm39)	C2134R	possibly damaging	Het
Cdc37	A	C	9: 21,052,064 (GRCm39)	M325R	possibly damaging	Het
Clca3a2	T	A	3: 144,778,000 (GRCm39)	M762L	probably benign	Het
Cntn3	C	T	6: 102,180,937 (GRCm39)	V753M	probably damaging	Het
Col6a6	A	T	9: 105,604,364 (GRCm39)		probably benign	Het
Dscaml1	A	G	9: 45,632,716 (GRCm39)	D1194G	probably damaging	Het
Egfr	G	A	11: 16,819,333 (GRCm39)	G288S	probably damaging	Het
Fbxl17	G	T	17: 63,778,409 (GRCm39)	N19K	probably damaging	Het
Fmo3	A	G	1: 162,785,796 (GRCm39)		probably benign	Het
Frmd6	T	C	12: 70,930,536 (GRCm39)	Y219H	probably damaging	Het
Fuca1	T	C	4: 135,652,955 (GRCm39)	V193A	possibly damaging	Het
Gm7461	C	T	8: 4,727,769 (GRCm39)		noncoding transcript	Het
Gpc5	T	A	14: 115,789,651 (GRCm39)	N508K	possibly damaging	Het
Iqch	A	T	9: 63,332,664 (GRCm39)	D1019E	probably benign	Het
Isyna1	A	G	8: 71,047,358 (GRCm39)	Y27C	probably damaging	Het
Itgb8	T	G	12: 119,166,216 (GRCm39)	H105P	probably benign	Het
Kbtbd11	C	T	8: 15,077,572 (GRCm39)	P57L	probably benign	Het
Kcns3	A	C	12: 11,142,559 (GRCm39)	C47G	probably damaging	Het
Kif21b	A	T	1: 136,099,895 (GRCm39)		probably null	Het
Lama3	A	T	18: 12,552,302 (GRCm39)	H418L	possibly damaging	Het
Lrit3	A	G	3: 129,581,951 (GRCm39)	Y679H	probably damaging	Het
Lrrc19	T	A	4: 94,526,489 (GRCm39)	D356V	probably damaging	Het
Morc2b	A	G	17: 33,354,781 (GRCm39)	M997T	probably benign	Het
Mroh9	T	C	1: 162,888,205 (GRCm39)	H290R	possibly damaging	Het
Mtcl1	A	T	17: 66,645,137 (GRCm39)	S1886T	possibly damaging	Het
Muc20	T	C	16: 32,613,791 (GRCm39)	T529A	possibly damaging	Het
Myo7a	A	C	7: 97,734,673 (GRCm39)	L607R	probably damaging	Het
Myom2	T	A	8: 15,119,783 (GRCm39)	F180I	probably damaging	Het
Myt1l	G	A	12: 29,861,484 (GRCm39)	E89K	unknown	Het
Nek2	A	G	1: 191,563,429 (GRCm39)	N431S	probably benign	Het
Oprm1	A	T	10: 6,782,604 (GRCm39)		probably null	Het
Or5t7	T	A	2: 86,506,873 (GRCm39)	H268L	possibly damaging	Het
Oxsr1	A	G	9: 119,070,850 (GRCm39)		probably benign	Het
Pasd1	G	C	X: 70,982,379 (GRCm39)	R296P	possibly damaging	Het
Pdgfrb	G	A	18: 61,211,720 (GRCm39)		probably null	Het
Proser1	C	A	3: 53,386,485 (GRCm39)	P789Q	probably benign	Het
Ptgs2	A	G	1: 149,976,788 (GRCm39)	Q7R	probably benign	Het
Rab3d	A	G	9: 21,825,982 (GRCm39)	V144A	probably benign	Het
Ralgapb	T	A	2: 158,281,467 (GRCm39)	L167H	probably damaging	Het
Ranbp3	A	G	17: 57,015,200 (GRCm39)	T301A	possibly damaging	Het
Rasgrf1	G	A	9: 89,866,322 (GRCm39)	V587M	probably damaging	Het
Sec16b	A	G	1: 157,392,433 (GRCm39)		probably benign	Het
Sin3b	T	C	8: 73,480,164 (GRCm39)		probably benign	Het
Slc10a2	T	C	8: 5,148,562 (GRCm39)	S128G	probably benign	Het
Tbl1xr1	G	A	3: 22,264,565 (GRCm39)	V507I	probably benign	Het
Tmem8b	T	G	4: 43,669,896 (GRCm39)		probably null	Het
Trak1	A	T	9: 121,196,233 (GRCm39)	T22S	probably benign	Het
Trim30d	A	G	7: 104,136,862 (GRCm39)	I114T	probably damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Ttn	T	C	2: 76,658,474 (GRCm39)		probably benign	Het
Vipr1	T	A	9: 121,489,237 (GRCm39)	Y99*	probably null	Het
Vmn1r210	T	C	13: 23,012,044 (GRCm39)	K81E	probably damaging	Het
Wwc1	T	C	11: 35,744,299 (GRCm39)	Y841C	probably benign	Het
Xrcc4	A	G	13: 90,149,024 (GRCm39)		probably benign	Het
Zdhhc22	A	T	12: 87,035,071 (GRCm39)	I127N	probably damaging	Het
Zdhhc7	A	G	8: 120,814,785 (GRCm39)	L8P	possibly damaging	Het
Zfp664	C	A	5: 124,962,659 (GRCm39)	L18I	probably damaging	Het

Other mutations in Or2aj4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Or2aj4	APN	16	19,384,958 (GRCm39)	missense	probably damaging	1.00
IGL01862:Or2aj4	APN	16	19,385,426 (GRCm39)	missense	probably damaging	1.00
IGL02064:Or2aj4	APN	16	19,385,298 (GRCm39)	missense	probably damaging	1.00
IGL03061:Or2aj4	APN	16	19,385,463 (GRCm39)	missense	possibly damaging	0.87
IGL03136:Or2aj4	APN	16	19,385,103 (GRCm39)	missense	probably damaging	1.00
R0066:Or2aj4	UTSW	16	19,384,799 (GRCm39)	missense	probably damaging	1.00
R0243:Or2aj4	UTSW	16	19,385,044 (GRCm39)	missense	probably damaging	0.97
R1644:Or2aj4	UTSW	16	19,385,156 (GRCm39)	missense	probably benign	0.11
R1943:Or2aj4	UTSW	16	19,385,187 (GRCm39)	missense	probably benign	0.19
R3016:Or2aj4	UTSW	16	19,385,141 (GRCm39)	missense	probably damaging	1.00
R4290:Or2aj4	UTSW	16	19,384,994 (GRCm39)	missense	possibly damaging	0.88
R4689:Or2aj4	UTSW	16	19,385,263 (GRCm39)	nonsense	probably null
R4791:Or2aj4	UTSW	16	19,385,413 (GRCm39)	missense	possibly damaging	0.50
R5497:Or2aj4	UTSW	16	19,385,080 (GRCm39)	missense	probably benign	0.10
R5843:Or2aj4	UTSW	16	19,385,333 (GRCm39)	missense	probably damaging	1.00
R6106:Or2aj4	UTSW	16	19,385,009 (GRCm39)	missense	probably damaging	0.99
R6249:Or2aj4	UTSW	16	19,384,725 (GRCm39)	missense	probably damaging	0.99
R7895:Or2aj4	UTSW	16	19,385,472 (GRCm39)	nonsense	probably null
R9284:Or2aj4	UTSW	16	19,385,357 (GRCm39)	missense	probably damaging	1.00
R9335:Or2aj4	UTSW	16	19,385,513 (GRCm39)	missense	probably benign	0.32
R9364:Or2aj4	UTSW	16	19,384,722 (GRCm39)	missense	possibly damaging	0.68
R9404:Or2aj4	UTSW	16	19,384,731 (GRCm39)	missense	probably benign	0.01
R9475:Or2aj4	UTSW	16	19,385,270 (GRCm39)	missense	probably benign	0.09
R9554:Or2aj4	UTSW	16	19,384,722 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- AATGTGCAGCACCCATCAATAAGGA -3'
(R):5'- GGTTGTTGTCATAATGTACTATGGGCCA -3'

Sequencing Primer
(F):5'- TTGCCTTACTACAGCATAGCAAG -3'
(R):5'- TGTACTATGGGCCATTCATTTTTAC -3'

Posted On

2013-07-11