Mutagenetix > Incidental Mutation

Incidental Mutation 'R9404:Or2aj4'

711437

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: 0.067) question?

Stock #

R9404 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19384690-19385631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19384731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 301 (V301M)

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: V301M

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000087516
Gene: ENSMUSG00000068535
AA Change: V301M

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: V301M

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000215476
AA Change: V301M

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	T	C	4: 106,615,509 (GRCm39)	K314R	possibly damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,005,064 (GRCm39)	V1167A	probably damaging	Het
Bbs12	T	C	3: 37,373,557 (GRCm39)	S2P	probably damaging	Het
Cdh11	A	T	8: 103,406,254 (GRCm39)	L73Q	probably damaging	Het
Cdk15	A	G	1: 59,328,914 (GRCm39)	E274G	possibly damaging	Het
Col27a1	T	C	4: 63,194,178 (GRCm39)	V845A	possibly damaging	Het
Cyp3a11	T	C	5: 145,799,258 (GRCm39)	T310A	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Ewsr1	A	G	11: 5,022,940 (GRCm39)	M388T	unknown	Het
Fat2	A	G	11: 55,144,348 (GRCm39)		probably null	Het
Gm8225	T	A	17: 26,762,034 (GRCm39)	I75N	probably damaging	Het
Gsap	A	G	5: 21,474,919 (GRCm39)	Y526C	probably damaging	Het
Hk1	T	A	10: 62,131,859 (GRCm39)	I203F	possibly damaging	Het
Insl5	T	C	4: 102,875,535 (GRCm39)	R72G	probably benign	Het
Iqcb1	T	C	16: 36,671,632 (GRCm39)	V321A	probably damaging	Het
Iqcd	A	C	5: 120,738,601 (GRCm39)	T140P		Het
Kcnt2	T	A	1: 140,353,107 (GRCm39)	I272K	probably damaging	Het
Klhl25	A	C	7: 75,515,153 (GRCm39)	I20L	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrba	T	C	3: 86,205,224 (GRCm39)	V356A	probably damaging	Het
Mast4	A	G	13: 102,887,933 (GRCm39)	Y1159H	probably damaging	Het
Mavs	T	A	2: 131,083,818 (GRCm39)	L105Q	probably damaging	Het
Megf6	T	A	4: 154,348,225 (GRCm39)	C902S		Het
Mmp17	A	G	5: 129,682,741 (GRCm39)	D460G	possibly damaging	Het
Myh2	G	T	11: 67,070,454 (GRCm39)	A466S	probably damaging	Het
Neb	T	C	2: 52,147,788 (GRCm39)	N2744D	probably damaging	Het
Oga	CTCGGGTC	CTC	19: 45,743,096 (GRCm39)		probably null	Het
Or13a26	T	A	7: 140,284,722 (GRCm39)	L186H	probably damaging	Het
Or2a12	T	C	6: 42,904,750 (GRCm39)	V195A	probably benign	Het
Or4a27	T	A	2: 88,559,551 (GRCm39)	M131L	probably benign	Het
Or6d13	T	G	6: 116,517,708 (GRCm39)	I98S	probably damaging	Het
Or8g55	A	T	9: 39,784,708 (GRCm39)	I46F	possibly damaging	Het
Parpbp	A	G	10: 87,950,411 (GRCm39)	V323A	possibly damaging	Het
Pax5	G	A	4: 44,645,565 (GRCm39)	P255S	possibly damaging	Het
Pcdhga2	A	G	18: 37,803,067 (GRCm39)	T304A	probably benign	Het
Pcsk1	T	G	13: 75,280,342 (GRCm39)	S722R	probably benign	Het
Pcsk9	C	A	4: 106,311,723 (GRCm39)	R218L	probably damaging	Het
Pds5a	T	A	5: 65,776,307 (GRCm39)	I96F	probably damaging	Het
Pkdrej	C	A	15: 85,703,270 (GRCm39)	V889L	probably benign	Het
Plekhh2	A	T	17: 84,878,468 (GRCm39)		probably null	Het
Pnn	A	G	12: 59,118,758 (GRCm39)	E447G	probably damaging	Het
Ppp2r3d	A	G	9: 101,025,840 (GRCm39)	L289P	probably damaging	Het
Ppp6r2	A	G	15: 89,152,753 (GRCm39)	H298R	probably benign	Het
Ptpn23	T	C	9: 110,216,025 (GRCm39)	N1277S		Het
Pus10	T	A	11: 23,661,202 (GRCm39)	F263L	possibly damaging	Het
Rexo5	A	G	7: 119,400,542 (GRCm39)	Y109C	probably damaging	Het
Rnf185	A	T	11: 3,382,615 (GRCm39)	C23*	probably null	Het
Runx1	T	C	16: 92,485,915 (GRCm39)	N140D	probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Scn9a	G	A	2: 66,357,040 (GRCm39)	T1087I	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	TC	TCAGCCACGGGGACCAGCCC	7: 126,066,771 (GRCm39)		probably benign	Het
Slc7a11	T	C	3: 50,335,488 (GRCm39)	H350R	possibly damaging	Het
Spaca6	T	C	17: 18,057,800 (GRCm39)	C155R	probably damaging	Het
Spire2	C	T	8: 124,090,077 (GRCm39)	R580*	probably null	Het
Srgap3	A	T	6: 112,706,616 (GRCm39)	M851K	probably benign	Het
Themis	A	G	10: 28,665,743 (GRCm39)	D602G	probably benign	Het
Tlcd4	T	C	3: 121,028,731 (GRCm39)	N52S	probably benign	Het
Trak2	T	C	1: 58,960,296 (GRCm39)	T236A	possibly damaging	Het
Trrap	T	C	5: 144,752,225 (GRCm39)	C1709R	possibly damaging	Het
Ttn	A	T	2: 76,584,500 (GRCm39)	S22203T	probably damaging	Het
Tut7	A	T	13: 59,947,701 (GRCm39)	N873K	probably benign	Het
Ube3a	A	G	7: 58,936,763 (GRCm39)	T701A	probably damaging	Het
Ufl1	T	C	4: 25,275,912 (GRCm39)	I164V	probably benign	Het
Vcpip1	T	C	1: 9,817,856 (GRCm39)	T176A	probably damaging	Het
Virma	T	A	4: 11,513,626 (GRCm39)	D493E	probably benign	Het
Vmn2r77	T	A	7: 86,451,247 (GRCm39)	W378R	probably benign	Het
Vps13b	A	T	15: 35,876,565 (GRCm39)	T2799S	probably damaging	Het
Vps8	T	C	16: 21,426,927 (GRCm39)	S1337P	probably benign	Het
Zfp235	A	T	7: 23,839,862 (GRCm39)	I94F	possibly damaging	Het
Zfp3	A	G	11: 70,663,366 (GRCm39)	K442E	probably damaging	Het
Zfp418	A	T	7: 7,185,104 (GRCm39)	I356F	possibly damaging	Het
Zfp790	G	A	7: 29,525,185 (GRCm39)	G68S	probably benign	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
R0629:Or2aj4	UTSW	16	19,384,730 (GRCm39)	missense	possibly damaging	0.88
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
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'- AGACTTTACCATGGGCATCTGTATAC -3'
(R):5'- TCCAAATGCAGTCATCAGGG -3'

Sequencing Primer
(F):5'- ACAGATATAAACATATACCCGGGTAC -3'
(R):5'- GGCCCGGCAAAAGTCCTTTTC -3'

Posted On

2022-05-16