Mutagenetix > Incidental Mutation

Incidental Mutation 'R6782:Or4g16'

531448

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

044896-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R6782 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111136546-111137487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111137090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 180 (D180G)

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: D182G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087801
Gene: ENSMUSG00000109813
AA Change: D182G

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: D180G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216697
AA Change: D180G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.7%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,847,308 (GRCm39)	A724V	probably damaging	Het
Abcc3	A	T	11: 94,249,776 (GRCm39)	F1055L	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Ankrd17	T	C	5: 90,402,597 (GRCm39)	K1488R	possibly damaging	Het
Ano1	G	A	7: 144,175,424 (GRCm39)	T498I	probably damaging	Het
Arhgap42	T	A	9: 9,115,721 (GRCm39)	K118N	probably damaging	Het
Arl5b	A	G	2: 15,077,993 (GRCm39)	E106G	probably damaging	Het
Atp5mc3	C	T	2: 73,739,672 (GRCm39)	R56Q	probably benign	Het
Bbx	T	C	16: 50,020,928 (GRCm39)	R749G	probably benign	Het
Cacna1g	A	G	11: 94,350,376 (GRCm39)	S490P	probably damaging	Het
Ccdc63	A	T	5: 122,249,077 (GRCm39)	Y417*	probably null	Het
Cep162	A	T	9: 87,093,737 (GRCm39)	N880K	probably benign	Het
Chd2	G	A	7: 73,125,127 (GRCm39)	Q77*	probably null	Het
Cntrl	T	G	2: 35,060,658 (GRCm39)	M1397R	possibly damaging	Het
Dcaf7	A	G	11: 105,945,581 (GRCm39)	Y310C	probably damaging	Het
Dnah5	T	A	15: 28,449,302 (GRCm39)	S4235T	possibly damaging	Het
Dot1l	C	T	10: 80,625,224 (GRCm39)	P1157L	probably damaging	Het
Esco2	T	C	14: 66,057,465 (GRCm39)	T577A	probably benign	Het
Foxp1	T	C	6: 98,907,106 (GRCm39)	D624G	probably damaging	Het
Gfi1	A	T	5: 107,873,819 (GRCm39)		probably null	Het
Gm10985	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	3: 53,752,626 (GRCm39)		probably null	Het
Gm5113	G	A	7: 29,878,178 (GRCm39)	V89I	probably benign	Het
Gtf3c2	A	C	5: 31,327,180 (GRCm39)	L382R	probably benign	Het
H3c2	T	C	13: 23,936,393 (GRCm39)	S11P	probably benign	Het
Hhip	T	C	8: 80,778,233 (GRCm39)	N99S	probably damaging	Het
Htr5b	T	C	1: 121,438,227 (GRCm39)	I335V	probably benign	Het
Ifi206	A	G	1: 173,308,923 (GRCm39)	S358P	unknown	Het
Loxhd1	T	A	18: 77,518,873 (GRCm39)	V1893D	probably damaging	Het
Mical2	A	G	7: 111,945,968 (GRCm39)	R11G	probably damaging	Het
Mrc1	T	C	2: 14,266,148 (GRCm39)		probably null	Het
Npr1	T	C	3: 90,363,560 (GRCm39)	N821S	probably benign	Het
Or52a24	A	G	7: 103,381,549 (GRCm39)	T139A	possibly damaging	Het
Or5p63	T	C	7: 107,811,670 (GRCm39)	D22G	probably benign	Het
Or5p70	T	G	7: 107,994,744 (GRCm39)	M139R	probably damaging	Het
Pi4ka	T	A	16: 17,143,852 (GRCm39)	D739V	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Ptprd	T	C	4: 76,243,377 (GRCm39)		probably null	Het
Ralgapb	G	A	2: 158,278,486 (GRCm39)	G5R	probably damaging	Het
Ric8b	T	C	10: 84,783,391 (GRCm39)	V83A	probably damaging	Het
Sdc2	C	A	15: 33,028,281 (GRCm39)	T133K	probably damaging	Het
Slc12a7	T	A	13: 73,947,088 (GRCm39)	V592D	probably damaging	Het
Sorcs1	G	T	19: 50,164,560 (GRCm39)	Y990*	probably null	Het
Spata13	G	T	14: 60,928,912 (GRCm39)	G157W	probably damaging	Het
Tada1	A	G	1: 166,217,541 (GRCm39)	N226S	probably benign	Het
Tenm3	A	G	8: 49,099,291 (GRCm39)		probably null	Het
Tll1	A	G	8: 64,524,315 (GRCm39)	V457A	probably benign	Het
Tmem232	T	C	17: 65,807,119 (GRCm39)	K25E	possibly damaging	Het
Tnrc18	T	C	5: 142,773,063 (GRCm39)	S406G	unknown	Het
Ush2a	A	G	1: 188,089,031 (GRCm39)	M329V	probably benign	Het
Vmn2r107	T	C	17: 20,577,141 (GRCm39)	S380P	probably damaging	Het
Vmn2r73	A	G	7: 85,519,563 (GRCm39)	M465T	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp217	T	C	2: 169,958,178 (GRCm39)	D463G	probably damaging	Het
Zfp345	T	C	2: 150,315,274 (GRCm39)	S88G	probably damaging	Het
Zfp975	A	C	7: 42,311,454 (GRCm39)	N386K	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
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'- AGATGGTGCTGCTCATAGCC -3'
(R):5'- ATGTGAGCTGACAGAGTGAC -3'

Sequencing Primer
(F):5'- ATAGCCATGGCCTTTGACAG -3'
(R):5'- GTGACAAGCGCCTTTGACAAGTC -3'

Posted On

2018-08-29