Mutagenetix > Incidental Mutation

Incidental Mutation 'R7167:Or4g16'

557968

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

MMRRC Submission

045228-MU

Accession Numbers

Essential gene?

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

Stock #

R7167 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111136546-111137487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111136793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 81 (M81T)

Ref Sequence

ENSEMBL: ENSMUSP00000149972 (fasta)

Gene Model

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

AlphaFold

Q8VF38

Predicted Effect

probably benign
Transcript: ENSMUST00000090329
AA Change: M83T

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000087801
Gene: ENSMUSG00000109813
AA Change: M83T

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 benign
Transcript: ENSMUST00000213823
AA Change: M81T

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000216697
AA Change: M81T

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

94% (65/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,624,930 (GRCm39)	V436A	probably benign	Het
Abcc5	T	C	16: 20,224,251 (GRCm39)	T111A	possibly damaging	Het
Acsbg2	T	A	17: 57,164,000 (GRCm39)	D203V	probably benign	Het
Alpk2	G	T	18: 65,440,049 (GRCm39)	T448K	probably benign	Het
Arhgef2	A	G	3: 88,551,179 (GRCm39)	N780S	possibly damaging	Het
Atxn2l	T	C	7: 126,098,394 (GRCm39)	N252S	possibly damaging	Het
Bmpr1b	A	T	3: 141,568,841 (GRCm39)	L163Q	probably benign	Het
Clca3a2	T	C	3: 144,803,545 (GRCm39)	R100G	probably benign	Het
Col2a1	A	G	15: 97,898,337 (GRCm39)	I79T	unknown	Het
Csmd1	A	G	8: 15,976,524 (GRCm39)	V2898A	probably benign	Het
Cux1	G	A	5: 136,338,895 (GRCm39)		probably null	Het
Cyp2u1	A	G	3: 131,096,773 (GRCm39)	S2P	probably benign	Het
Daam1	C	A	12: 72,035,678 (GRCm39)	H958N	probably damaging	Het
Dnah7a	C	T	1: 53,542,935 (GRCm39)	V2412I	probably benign	Het
Ergic2	T	C	6: 148,108,133 (GRCm39)	R2G	probably damaging	Het
Fat2	T	C	11: 55,175,827 (GRCm39)	T1629A	possibly damaging	Het
Ftl1	T	A	7: 45,109,202 (GRCm39)		probably benign	Het
Fut8	T	C	12: 77,495,406 (GRCm39)	V332A	possibly damaging	Het
Gm28363	T	C	1: 117,655,119 (GRCm39)	S113P	probably damaging	Het
Hfe	A	T	13: 23,892,052 (GRCm39)	V104E	probably damaging	Het
Ifih1	A	T	2: 62,429,240 (GRCm39)	N899K	probably benign	Het
Krt75	A	G	15: 101,476,750 (GRCm39)	S380P	possibly damaging	Het
Meiob	T	G	17: 25,055,419 (GRCm39)	F409V	probably damaging	Het
Mkrn2os	A	T	6: 115,562,474 (GRCm39)	I163N	probably damaging	Het
Nanos1	G	T	19: 60,745,046 (GRCm39)	G115W	probably damaging	Het
Naprt	C	T	15: 75,764,461 (GRCm39)	A276T	probably damaging	Het
Oas1e	G	T	5: 120,933,487 (GRCm39)	T26N	probably benign	Het
Oog2	T	G	4: 143,921,745 (GRCm39)	D218E	probably benign	Het
Optn	T	C	2: 5,047,294 (GRCm39)	N207S	probably benign	Het
Or13a20	T	A	7: 140,232,466 (GRCm39)	C191*	probably null	Het
Or1l8	T	C	2: 36,817,533 (GRCm39)	I198V	probably benign	Het
Or4p18	A	G	2: 88,232,552 (GRCm39)	V242A	possibly damaging	Het
Or6c63-ps1	T	G	10: 128,899,141 (GRCm39)	Q245P	probably damaging	Het
Or6c66b	T	C	10: 129,376,607 (GRCm39)	L67P	possibly damaging	Het
Or8g4	T	C	9: 39,661,865 (GRCm39)	F61S	probably damaging	Het
Oxnad1	G	T	14: 31,822,976 (GRCm39)	E236*	probably null	Het
Pcdha3	G	A	18: 37,080,046 (GRCm39)	A263T	probably damaging	Het
Pex13	A	T	11: 23,605,472 (GRCm39)	W253R	possibly damaging	Het
Pip5k1b	T	A	19: 24,374,433 (GRCm39)	E49D	probably benign	Het
Plau	C	A	14: 20,889,518 (GRCm39)	F194L	possibly damaging	Het
Ppm1n	A	G	7: 19,013,666 (GRCm39)	L95S	probably damaging	Het
Pramel40	G	A	5: 94,464,984 (GRCm39)	A457T	possibly damaging	Het
Radil	G	T	5: 142,471,260 (GRCm39)		probably null	Het
Ralgapa2	C	T	2: 146,190,374 (GRCm39)	M1266I	probably benign	Het
Reln	A	T	5: 22,147,618 (GRCm39)	L2444Q	probably damaging	Het
Rims2	T	C	15: 39,300,473 (GRCm39)	V260A	probably benign	Het
Rnase2b	T	A	14: 51,400,222 (GRCm39)	V101E	probably damaging	Het
Rtp3	T	A	9: 110,815,772 (GRCm39)	T198S	probably benign	Het
Shisal2b	A	G	13: 105,000,166 (GRCm39)	V19A	probably damaging	Het
Smad3	T	A	9: 63,573,435 (GRCm39)	D201V	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spata7	T	G	12: 98,630,555 (GRCm39)	F371C	probably damaging	Het
Stag1	T	G	9: 100,827,942 (GRCm39)	N990K	probably benign	Het
Tbx18	C	T	9: 87,589,883 (GRCm39)	A352T	probably damaging	Het
Thada	C	T	17: 84,538,391 (GRCm39)	R1539Q	probably benign	Het
Thrap3	A	C	4: 126,078,920 (GRCm39)		probably benign	Het
Tnks	G	A	8: 35,316,458 (GRCm39)	T887M	probably damaging	Het
Trap1	A	C	16: 3,870,792 (GRCm39)	V393G	probably damaging	Het
Trpm4	A	G	7: 44,977,143 (GRCm39)		probably null	Het
Trrap	G	T	5: 144,776,424 (GRCm39)	G3007C	probably benign	Het
U2surp	A	T	9: 95,363,726 (GRCm39)	N611K	probably damaging	Het
Usp12	A	G	5: 146,705,745 (GRCm39)		probably null	Het
Vmn1r200	A	G	13: 22,579,487 (GRCm39)	T97A	possibly damaging	Het
Vmn2r110	C	T	17: 20,794,441 (GRCm39)	V743I	probably benign	Het
Vps50	C	T	6: 3,600,256 (GRCm39)	T905M	probably damaging	Het
Wdr48	T	A	9: 119,736,855 (GRCm39)		probably null	Het
Zfp446	C	T	7: 12,712,049 (GRCm39)		probably benign	Het
Zfr	T	C	15: 12,181,015 (GRCm39)	S1012P	probably benign	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
PIT4377001:Or4g16	UTSW	2	111,137,225 (GRCm39)	missense	probably damaging	1.00
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
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'- GCCGATGGATCAACTAAATGACTC -3'
(R):5'- GGGCTCATGATGCTCAAGTAG -3'

Sequencing Primer
(F):5'- GGACTCTCTAGTTCTTGGGAAAC -3'
(R):5'- CTCAAGTAGCGCAGAGGCTTAC -3'

Posted On

2019-06-26