Mutagenetix > Incidental Mutation

Incidental Mutation 'R6881:Or1o4'

536691

Institutional Source

Beutler Lab

Gene Symbol

Or1o4

Ensembl Gene

ENSMUSG00000061972

Gene Name

olfactory receptor family 1 subfamily O member 4

Synonyms

MOR156-1, GA_x6K02T2PSCP-1720261-1719344, Olfr99

MMRRC Submission

045030-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R6881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37590392-37591309 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37591200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 37 (L37S)

Ref Sequence

ENSEMBL: ENSMUSP00000148900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077585] [ENSMUST00000216328]

AlphaFold

Q8VFE4

Predicted Effect

probably benign
Transcript: ENSMUST00000077585
AA Change: L37S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000076781
Gene: ENSMUSG00000061972
AA Change: L37S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	1.8e-58	PFAM
Pfam:7TM_GPCR_Srsx	32	302	1.4e-6	PFAM
Pfam:7tm_1	38	287	1e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216328
AA Change: L37S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (53/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	C	9: 15,202,061 (GRCm39)	C187G	possibly damaging	Het
Abhd16a	C	T	17: 35,315,577 (GRCm39)	T208I	probably benign	Het
Ahcyl1	A	T	3: 107,575,425 (GRCm39)	H425Q	probably damaging	Het
Ankrd22	T	A	19: 34,126,782 (GRCm39)	N16I	probably damaging	Het
Cc2d2b	A	G	19: 40,813,483 (GRCm39)	E1321G	probably damaging	Het
Ccdc7b	A	G	8: 129,799,028 (GRCm39)	E35G	probably damaging	Het
Chsy3	A	G	18: 59,312,480 (GRCm39)	I318V	probably damaging	Het
Clrn2	G	A	5: 45,611,164 (GRCm39)	W4*	probably null	Het
Cmip	T	C	8: 118,163,334 (GRCm39)	I355T	possibly damaging	Het
Cmya5	C	T	13: 93,226,800 (GRCm39)	V2763M	probably damaging	Het
Cnnm2	T	C	19: 46,865,658 (GRCm39)	S749P	probably damaging	Het
Cyp1a1	G	T	9: 57,608,002 (GRCm39)	R210L	possibly damaging	Het
Dmxl1	G	A	18: 50,068,372 (GRCm39)	S2715N	probably benign	Het
Dync1h1	T	C	12: 110,590,995 (GRCm39)	L1021P	probably damaging	Het
Ecm2	C	T	13: 49,683,818 (GRCm39)	Q599*	probably null	Het
Galnt11	G	T	5: 25,455,097 (GRCm39)	K144N	possibly damaging	Het
Gm45861	A	G	8: 28,025,279 (GRCm39)		probably null	Het
Kcnk18	T	A	19: 59,208,390 (GRCm39)	D75E	probably benign	Het
Kcnk2	C	T	1: 188,942,187 (GRCm39)	V346M	probably benign	Het
Klhl33	T	A	14: 51,128,929 (GRCm39)	M767L	probably benign	Het
Knl1	T	C	2: 118,925,665 (GRCm39)	I1898T	possibly damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lamp3	T	C	16: 19,518,368 (GRCm39)	T290A	probably benign	Het
Larp1	T	A	11: 57,940,849 (GRCm39)	D658E	probably damaging	Het
Macf1	T	A	4: 123,326,246 (GRCm39)	I3521F	probably damaging	Het
Med12l	T	C	3: 59,174,586 (GRCm39)	S1835P	probably benign	Het
Mef2c	C	A	13: 83,741,061 (GRCm39)	N73K	probably damaging	Het
Mtmr3	T	C	11: 4,439,725 (GRCm39)	S572G	probably benign	Het
Neto2	A	T	8: 86,367,185 (GRCm39)	S520T	probably damaging	Het
Or10ak16	A	G	4: 118,750,304 (GRCm39)	N8S	probably damaging	Het
Or4c110	A	T	2: 88,832,281 (GRCm39)	M117K	probably damaging	Het
P3h2	G	A	16: 25,811,495 (GRCm39)	R243C	probably damaging	Het
Pld1	T	C	3: 28,132,563 (GRCm39)	S584P	possibly damaging	Het
Prkcz	T	C	4: 155,353,513 (GRCm39)	N278S	possibly damaging	Het
Radil	A	G	5: 142,472,672 (GRCm39)	S913P	probably benign	Het
Retreg2	A	C	1: 75,123,083 (GRCm39)	Q337P	probably damaging	Het
Sh3gl3	A	G	7: 81,956,178 (GRCm39)	E305G	possibly damaging	Het
Shank1	G	T	7: 44,001,217 (GRCm39)	D979Y	unknown	Het
Slc35a5	A	T	16: 44,964,443 (GRCm39)	N263K	possibly damaging	Het
Slc4a7	A	T	14: 14,737,452 (GRCm38)	M127L	probably benign	Het
Slc8a2	G	A	7: 15,891,282 (GRCm39)	G774E	probably damaging	Het
Smim45	C	A	15: 82,143,786 (GRCm39)	H3N	possibly damaging	Het
Snap91	A	G	9: 86,655,646 (GRCm39)	S847P	possibly damaging	Het
Stoml1	T	C	9: 58,168,177 (GRCm39)	L296P	probably damaging	Het
Tap1	G	T	17: 34,407,008 (GRCm39)	G52V	probably damaging	Het
Tent4b	T	C	8: 88,977,416 (GRCm39)	V363A	possibly damaging	Het
Tnfrsf11b	T	C	15: 54,117,539 (GRCm39)	R239G	probably benign	Het
Ttn	T	C	2: 76,536,846 (GRCm39)	Y34993C	probably damaging	Het
Uchl1	T	C	5: 66,841,065 (GRCm39)	F165L	probably damaging	Het
Xrcc1	C	T	7: 24,246,776 (GRCm39)	Q15*	probably null	Het
Zkscan7	C	G	9: 122,717,766 (GRCm39)	Q54E	possibly damaging	Het

Other mutations in Or1o4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01878:Or1o4	APN	17	37,590,891 (GRCm39)	missense	possibly damaging	0.46
IGL02954:Or1o4	APN	17	37,591,195 (GRCm39)	missense	probably damaging	1.00
R0533:Or1o4	UTSW	17	37,591,182 (GRCm39)	nonsense	probably null
R1480:Or1o4	UTSW	17	37,590,636 (GRCm39)	missense	probably benign	0.01
R2872:Or1o4	UTSW	17	37,590,867 (GRCm39)	missense	possibly damaging	0.64
R2872:Or1o4	UTSW	17	37,590,867 (GRCm39)	missense	possibly damaging	0.64
R3772:Or1o4	UTSW	17	37,590,745 (GRCm39)	missense	probably benign	0.00
R3826:Or1o4	UTSW	17	37,591,140 (GRCm39)	missense	probably damaging	1.00
R3827:Or1o4	UTSW	17	37,591,140 (GRCm39)	missense	probably damaging	1.00
R3829:Or1o4	UTSW	17	37,591,140 (GRCm39)	missense	probably damaging	1.00
R5210:Or1o4	UTSW	17	37,590,824 (GRCm39)	missense	probably benign	0.13
R5361:Or1o4	UTSW	17	37,590,501 (GRCm39)	missense	probably benign	0.02
R6213:Or1o4	UTSW	17	37,591,264 (GRCm39)	missense	probably benign
R6399:Or1o4	UTSW	17	37,590,666 (GRCm39)	missense	probably damaging	1.00
R7938:Or1o4	UTSW	17	37,590,991 (GRCm39)	missense	probably benign	0.03
R8097:Or1o4	UTSW	17	37,590,818 (GRCm39)	nonsense	probably null
R8125:Or1o4	UTSW	17	37,590,935 (GRCm39)	missense	probably benign	0.01
R8218:Or1o4	UTSW	17	37,590,711 (GRCm39)	missense	probably benign
R9050:Or1o4	UTSW	17	37,590,820 (GRCm39)	missense	probably damaging	0.97
R9126:Or1o4	UTSW	17	37,590,745 (GRCm39)	missense	probably benign	0.00
R9434:Or1o4	UTSW	17	37,591,254 (GRCm39)	missense	probably benign	0.01
R9495:Or1o4	UTSW	17	37,591,386 (GRCm39)	start gained	probably benign
R9514:Or1o4	UTSW	17	37,591,386 (GRCm39)	start gained	probably benign
Z1176:Or1o4	UTSW	17	37,590,565 (GRCm39)	missense	probably damaging	0.99
Z1177:Or1o4	UTSW	17	37,591,100 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAAGCAGGTTATCCATGTCAGC -3'
(R):5'- AAGACTGGGTTGTTGCCAATC -3'

Sequencing Primer
(F):5'- TACAACTGAGTTAGGCATCCAG -3'
(R):5'- GGTTGTTGCCAATCCTTGC -3'

Posted On

2018-10-18