Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4377001:Or4g16'

554906

Institutional Source

Beutler Lab

Gene Symbol

Or4g16

Ensembl Gene

ENSMUSG00000109813

Gene Name

olfactory receptor family 4 subfamily G member 16

Synonyms

Olfr1279, MOR245-12, GA_x6K02T2Q125-72357646-72358581

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

PIT4377001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111136546-111137487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111137225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 225 (V225D)

Ref Sequence

ENSEMBL: ENSMUSP00000149972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090329] [ENSMUST00000213823] [ENSMUST00000216697]

AlphaFold

Q8VF38

Predicted Effect

probably damaging
Transcript: ENSMUST00000090329
AA Change: V227D

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

SMART Domains

Protein: ENSMUSP00000087801
Gene: ENSMUSG00000109813
AA Change: V227D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	306	1.7e-44	PFAM
Pfam:7TM_GPCR_Srsx	36	300	3.2e-5	PFAM
Pfam:7tm_1	43	289	7.4e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213823
AA Change: V225D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216697
AA Change: V225D

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

Coding Region Coverage

1x: 92.9%
3x: 90.8%
10x: 85.9%
20x: 75.6%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	T	C	4: 39,451,129 (GRCm39)	C112R	possibly damaging	Het
Acadl	G	A	1: 66,877,564 (GRCm39)	T329M	probably damaging	Het
Adgrv1	A	G	13: 81,677,104 (GRCm39)	L1909P	probably damaging	Het
Aff3	A	C	1: 38,578,044 (GRCm39)	V31G	probably damaging	Het
Bag3	A	G	7: 128,147,441 (GRCm39)	D352G	probably damaging	Het
Bcas3	A	T	11: 85,386,668 (GRCm39)	T368S	probably damaging	Het
Bmp3	A	G	5: 99,027,608 (GRCm39)	I434V	unknown	Het
Casq1	T	A	1: 172,039,568 (GRCm39)	T336S	probably benign	Het
Cib2	T	G	9: 54,467,271 (GRCm39)	E11A	probably damaging	Het
Cttn	C	A	7: 143,993,833 (GRCm39)	E393D	possibly damaging	Het
Dchs1	G	A	7: 105,406,795 (GRCm39)	R2237W	probably damaging	Het
Dclre1a	C	T	19: 56,532,837 (GRCm39)	A586T	probably benign	Het
Defb1	C	A	8: 22,266,716 (GRCm39)	Q17K	possibly damaging	Het
Dgat2	T	C	7: 98,806,342 (GRCm39)	Y285C	probably damaging	Het
Dhx57	A	T	17: 80,571,404 (GRCm39)	F732Y	probably damaging	Het
Dock2	T	G	11: 34,611,835 (GRCm39)	D176A	probably benign	Het
Epha6	A	G	16: 60,025,915 (GRCm39)	I509T	probably damaging	Het
Fblim1	C	T	4: 141,322,720 (GRCm39)	R21H	probably damaging	Het
Fbxw20	T	A	9: 109,050,795 (GRCm39)	H371L	probably benign	Het
Foxa1	T	A	12: 57,589,567 (GRCm39)	I218F	probably damaging	Het
Fstl1	A	T	16: 37,636,167 (GRCm39)	I53F	probably benign	Het
Gdnf	A	G	15: 7,864,011 (GRCm39)	R141G	probably benign	Het
Gemin7	G	A	7: 19,299,242 (GRCm39)	R118*	probably null	Het
Gm43218	T	C	6: 70,217,565 (GRCm39)	T64A	probably benign	Het
Gnat3	G	A	5: 18,220,557 (GRCm39)	M243I		Het
Gramd1a	A	T	7: 30,843,095 (GRCm39)	I71N	possibly damaging	Het
H4c12	C	G	13: 21,934,654 (GRCm39)	G8R	unknown	Het
Htt	A	T	5: 35,033,309 (GRCm39)	D1859V	probably benign	Het
Hyal1	T	C	9: 107,456,468 (GRCm39)	F415S	probably damaging	Het
Ighv1-47	T	C	12: 114,954,858 (GRCm39)	N74S	probably benign	Het
Igkv1-131	T	C	6: 67,743,192 (GRCm39)	R64G	probably benign	Het
Itgb1	T	A	8: 129,436,864 (GRCm39)	V95D	probably damaging	Het
Jak1	A	C	4: 101,036,748 (GRCm39)	N297K	probably benign	Het
Kcna4	T	A	2: 107,127,205 (GRCm39)	N646K	possibly damaging	Het
Krt42	A	G	11: 100,153,931 (GRCm39)	S442P	probably damaging	Het
Mcm3ap	G	A	10: 76,338,596 (GRCm39)	S1408N	possibly damaging	Het
Mdga2	T	A	12: 66,763,469 (GRCm39)	Q278L	probably damaging	Het
Mkln1	C	T	6: 31,451,289 (GRCm39)	T410M	probably damaging	Het
Nav3	T	C	10: 109,552,466 (GRCm39)	E1792G	probably damaging	Het
Ndrg1	A	G	15: 66,820,288 (GRCm39)	C49R	probably benign	Het
Neurl4	A	G	11: 69,801,232 (GRCm39)	H1201R	probably benign	Het
Nfasc	T	C	1: 132,510,804 (GRCm39)	Y1073C	unknown	Het
Nrbp2	A	G	15: 75,958,945 (GRCm39)	Y253H	probably benign	Het
Or10c1	T	A	17: 37,521,980 (GRCm39)	I255F	probably benign	Het
Or4k45	T	C	2: 111,395,556 (GRCm39)	T78A	probably damaging	Het
Pcsk5	A	T	19: 17,416,466 (GRCm39)	C1661S	probably damaging	Het
Qsox2	T	G	2: 26,110,924 (GRCm39)	D147A	probably damaging	Het
Siglec15	T	A	18: 78,100,590 (GRCm39)		probably benign	Het
Skint5	T	A	4: 113,454,900 (GRCm39)	T1011S	unknown	Het
Slc9a2	A	G	1: 40,783,001 (GRCm39)	T422A	probably damaging	Het
Tert	C	T	13: 73,776,380 (GRCm39)	T377I	possibly damaging	Het
Tex15	T	A	8: 34,061,129 (GRCm39)	S186R	probably damaging	Het
Tgfb1	A	G	7: 25,396,343 (GRCm39)	D212G	probably benign	Het
Tnc	T	G	4: 63,935,973 (GRCm39)	D321A	probably damaging	Het
Topbp1	G	A	9: 103,187,088 (GRCm39)	E98K	possibly damaging	Het
Ugp2	C	A	11: 21,320,203 (GRCm39)	M1I	probably null	Het
Vipr2	G	A	12: 116,058,418 (GRCm39)	D112N	probably benign	Het
Vps13a	T	C	19: 16,718,265 (GRCm39)	E485G	probably damaging	Het
Vps37a	T	A	8: 40,990,087 (GRCm39)	I198N	possibly damaging	Het
Zbtb9	T	C	17: 27,193,735 (GRCm39)	V380A	probably damaging	Het
Zfhx4	G	C	3: 5,307,802 (GRCm39)	V343L	probably damaging	Het

Other mutations in Or4g16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Or4g16	APN	2	111,136,966 (GRCm39)	missense	probably benign	0.19
IGL01355:Or4g16	APN	2	111,137,438 (GRCm39)	missense	probably benign	0.00
IGL01864:Or4g16	APN	2	111,137,400 (GRCm39)	missense	probably damaging	1.00
IGL02160:Or4g16	APN	2	111,137,143 (GRCm39)	missense	probably benign	0.02
IGL02183:Or4g16	APN	2	111,136,763 (GRCm39)	missense	probably damaging	0.98
R0280:Or4g16	UTSW	2	111,137,417 (GRCm39)	missense	possibly damaging	0.48
R0636:Or4g16	UTSW	2	111,136,757 (GRCm39)	missense	probably benign	0.06
R0732:Or4g16	UTSW	2	111,137,325 (GRCm39)	nonsense	probably null
R1661:Or4g16	UTSW	2	111,137,116 (GRCm39)	missense	probably damaging	1.00
R1665:Or4g16	UTSW	2	111,137,116 (GRCm39)	missense	probably damaging	1.00
R2251:Or4g16	UTSW	2	111,136,655 (GRCm39)	missense	probably damaging	1.00
R2252:Or4g16	UTSW	2	111,136,655 (GRCm39)	missense	probably damaging	1.00
R2253:Or4g16	UTSW	2	111,136,655 (GRCm39)	missense	probably damaging	1.00
R2473:Or4g16	UTSW	2	111,137,236 (GRCm39)	missense	probably damaging	1.00
R3408:Or4g16	UTSW	2	111,136,850 (GRCm39)	missense	probably damaging	1.00
R5020:Or4g16	UTSW	2	111,136,637 (GRCm39)	missense	probably benign	0.01
R5634:Or4g16	UTSW	2	111,137,437 (GRCm39)	missense	probably benign
R5647:Or4g16	UTSW	2	111,137,392 (GRCm39)	missense	possibly damaging	0.67
R6782:Or4g16	UTSW	2	111,137,090 (GRCm39)	missense	probably damaging	1.00
R6911:Or4g16	UTSW	2	111,136,618 (GRCm39)	missense	probably benign	0.00
R7135:Or4g16	UTSW	2	111,137,365 (GRCm39)	missense	probably benign	0.05
R7167:Or4g16	UTSW	2	111,136,793 (GRCm39)	missense	probably benign	0.10
R7452:Or4g16	UTSW	2	111,137,266 (GRCm39)	missense	probably damaging	1.00
R7563:Or4g16	UTSW	2	111,137,134 (GRCm39)	missense	probably benign	0.00
R7582:Or4g16	UTSW	2	111,136,793 (GRCm39)	missense	probably damaging	0.97
R8949:Or4g16	UTSW	2	111,137,379 (GRCm39)	missense	probably damaging	1.00
X0021:Or4g16	UTSW	2	111,136,933 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGTCCTAACAAAGTGGACAG -3'
(R):5'- GCTACAAACAGCCCTTTTGC -3'

Sequencing Primer
(F):5'- CAAAGTGGACAGCTTTTACTGCGAC -3'
(R):5'- ACAAACAGCCCTTTTGCTTAATC -3'

Posted On

2019-06-07