Mutagenetix > Incidental Mutation

Incidental Mutation 'R7032:Or8g18'

546388

Institutional Source

Beutler Lab

Gene Symbol

Or8g18

Ensembl Gene

ENSMUSG00000096109

Gene Name

olfactory receptor family 8 subfamily G member 18

Synonyms

MOR171-41P, Olfr1537-ps1, Olfr144, GA_x6K02T2PVTD-32935684-32934749, MOR171-32P, K4, MOR171-32P, Olfr1537

MMRRC Submission

045133-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39148783-39149727 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39148983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 246 (S246T)

Ref Sequence

ENSEMBL: ENSMUSP00000149992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073248] [ENSMUST00000213472]

AlphaFold

P34983

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073248
AA Change: S249T

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000072979
Gene: ENSMUSG00000096109
AA Change: S249T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	2.4e-51	PFAM
Pfam:7tm_1	44	293	1.1e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213472
AA Change: S246T

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.1470

Coding Region Coverage

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

Validation Efficiency

100% (67/67)

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
2310003L06Rik	T	A	5: 88,120,438 (GRCm39)	D398E	possibly damaging	Het
Adam34	T	C	8: 44,105,303 (GRCm39)	Y114C	probably damaging	Het
Akap9	T	A	5: 4,004,896 (GRCm39)	D156E	probably benign	Het
Apba1	T	A	19: 23,889,825 (GRCm39)	S408T	probably benign	Het
Asb14	C	T	14: 26,625,412 (GRCm39)	H256Y	probably benign	Het
Atf6	A	T	1: 170,627,181 (GRCm39)		probably null	Het
Atp6v1b2	T	A	8: 69,541,548 (GRCm39)	V35E	probably benign	Het
Atp8a2	T	C	14: 60,255,289 (GRCm39)		probably null	Het
Ccdc170	C	A	10: 4,432,597 (GRCm39)	P12Q	unknown	Het
Cdh23	C	T	10: 60,167,567 (GRCm39)	E1810K	probably damaging	Het
Cdo1	A	T	18: 46,853,475 (GRCm39)	F94L	probably damaging	Het
Cfap96	T	G	8: 46,409,474 (GRCm39)	S282R	probably damaging	Het
Chdh	C	T	14: 29,758,809 (GRCm39)	P585S	possibly damaging	Het
Clasp2	A	G	9: 113,683,391 (GRCm39)	N407S	probably benign	Het
Clca3a1	T	A	3: 144,453,329 (GRCm39)	S465C	probably benign	Het
Clip2	C	A	5: 134,551,484 (GRCm39)	V213L	probably damaging	Het
Col6a6	A	G	9: 105,644,707 (GRCm39)	S1194P	probably damaging	Het
Cyp7a1	T	C	4: 6,268,463 (GRCm39)	T421A	possibly damaging	Het
Dhh	C	T	15: 98,791,907 (GRCm39)	G367E	possibly damaging	Het
Dnah5	A	G	15: 28,326,796 (GRCm39)	N2002D	probably damaging	Het
Epn2	T	A	11: 61,437,528 (GRCm39)	N15Y	probably damaging	Het
Evi5	A	C	5: 107,936,147 (GRCm39)	V647G	probably benign	Het
Eya1	T	C	1: 14,353,424 (GRCm39)		probably null	Het
Fam120a	A	G	13: 49,102,589 (GRCm39)	V222A	probably benign	Het
Fastkd5	A	T	2: 130,457,864 (GRCm39)	I242K	possibly damaging	Het
Hnrnpul1	A	G	7: 25,450,319 (GRCm39)	M131T	probably benign	Het
Ice1	T	C	13: 70,744,283 (GRCm39)	N2100S	probably damaging	Het
Ifi205	T	A	1: 173,855,916 (GRCm39)	D38V	possibly damaging	Het
Klhl9	G	A	4: 88,639,843 (GRCm39)	Q133*	probably null	Het
Krt84	T	C	15: 101,436,924 (GRCm39)	E370G	probably benign	Het
Lrrc4c	T	C	2: 97,459,410 (GRCm39)	I12T	probably benign	Het
Lrriq4	T	A	3: 30,709,850 (GRCm39)	L398*	probably null	Het
Ltf	G	A	9: 110,855,198 (GRCm39)		probably null	Het
Macf1	C	T	4: 123,366,101 (GRCm39)	V1322I	probably benign	Het
Mark2	T	A	19: 7,264,698 (GRCm39)	I112L	probably damaging	Het
Mettl25b	A	G	3: 87,831,649 (GRCm39)		probably null	Het
Mterf2	A	T	10: 84,956,527 (GRCm39)	C32*	probably null	Het
Myo3b	C	T	2: 69,925,608 (GRCm39)	T25I	probably damaging	Het
Nsun7	A	C	5: 66,421,378 (GRCm39)	I115L	probably benign	Het
Olfm3	G	A	3: 114,883,805 (GRCm39)	V36M	probably damaging	Het
Or1p1c	T	C	11: 74,160,428 (GRCm39)	I71T	possibly damaging	Het
Or5d44	T	C	2: 88,141,373 (GRCm39)	T256A	probably benign	Het
Or8b3	A	T	9: 38,314,965 (GRCm39)	Y262F	possibly damaging	Het
Pcdhgb8	A	T	18: 37,896,962 (GRCm39)	R677S	probably benign	Het
Prrt4	A	C	6: 29,170,538 (GRCm39)	L638R	possibly damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rab44	T	C	17: 29,359,438 (GRCm39)	F542S	unknown	Het
Rhobtb3	T	A	13: 76,020,513 (GRCm39)	E596D	probably benign	Het
Rpl36	T	C	17: 56,920,944 (GRCm39)	I44T	probably benign	Het
Rptor	A	G	11: 119,737,762 (GRCm39)	I112V	probably benign	Het
Rxfp2	T	C	5: 149,993,813 (GRCm39)	I611T	probably damaging	Het
Slc12a4	G	T	8: 106,675,865 (GRCm39)	N553K	probably damaging	Het
Spata31d1d	T	A	13: 59,876,046 (GRCm39)	R496S	probably benign	Het
Strbp	T	C	2: 37,493,125 (GRCm39)	D387G	possibly damaging	Het
Tas2r107	A	T	6: 131,636,153 (GRCm39)	C299S	possibly damaging	Het
Tbc1d21	A	T	9: 58,274,134 (GRCm39)		probably null	Het
Tdrd12	A	T	7: 35,180,471 (GRCm39)	Y847*	probably null	Het
Tlr2	A	T	3: 83,745,212 (GRCm39)	N290K	probably benign	Het
Tmppe	A	G	9: 114,234,858 (GRCm39)	T386A	probably damaging	Het
Tnks1bp1	C	A	2: 84,892,297 (GRCm39)	H741Q	probably benign	Het
Trpc6	G	A	9: 8,609,951 (GRCm39)	V140M	probably damaging	Het
Ttn	T	C	2: 76,641,932 (GRCm39)	D13427G	probably damaging	Het
Uba7	C	A	9: 107,853,371 (GRCm39)	L106I	possibly damaging	Het
Unc5b	T	G	10: 60,614,587 (GRCm39)	T237P	probably damaging	Het
Vit	A	C	17: 78,932,294 (GRCm39)	D467A	probably damaging	Het
Vmn1r103	T	C	7: 20,243,780 (GRCm39)	Y227C	possibly damaging	Het
Vmn1r77	T	A	7: 11,776,017 (GRCm39)	Y196*	probably null	Het
Zhx3	A	G	2: 160,622,898 (GRCm39)	V423A	probably damaging	Het

Other mutations in Or8g18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Or8g18	APN	9	39,148,901 (GRCm39)	missense	probably benign	0.25
IGL01691:Or8g18	APN	9	39,149,315 (GRCm39)	missense	probably benign	0.00
IGL02606:Or8g18	APN	9	39,149,490 (GRCm39)	missense	probably damaging	0.98
IGL02656:Or8g18	APN	9	39,149,456 (GRCm39)	missense	probably benign	0.13
R0133:Or8g18	UTSW	9	39,149,307 (GRCm39)	missense	probably benign	0.00
R0548:Or8g18	UTSW	9	39,149,667 (GRCm39)	missense	probably benign	0.13
R0558:Or8g18	UTSW	9	39,149,496 (GRCm39)	missense	probably damaging	0.96
R0616:Or8g18	UTSW	9	39,148,946 (GRCm39)	missense	probably benign	0.00
R0626:Or8g18	UTSW	9	39,149,162 (GRCm39)	missense	possibly damaging	0.52
R0826:Or8g18	UTSW	9	39,149,725 (GRCm39)	start codon destroyed	probably null	0.00
R0839:Or8g18	UTSW	9	39,149,146 (GRCm39)	missense	possibly damaging	0.51
R1074:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1224:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1226:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1252:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1256:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1355:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1356:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1416:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1499:Or8g18	UTSW	9	39,149,547 (GRCm39)	missense	probably benign	0.39
R1658:Or8g18	UTSW	9	39,149,255 (GRCm39)	missense	probably benign	0.03
R1815:Or8g18	UTSW	9	39,149,286 (GRCm39)	missense	probably benign	0.01
R2198:Or8g18	UTSW	9	39,149,048 (GRCm39)	missense	possibly damaging	0.48
R4178:Or8g18	UTSW	9	39,149,375 (GRCm39)	nonsense	probably null
R5112:Or8g18	UTSW	9	39,149,717 (GRCm39)	start codon destroyed	probably null	0.94
R6251:Or8g18	UTSW	9	39,149,514 (GRCm39)	missense	possibly damaging	0.94
R6850:Or8g18	UTSW	9	39,149,271 (GRCm39)	missense	probably benign	0.01
R7573:Or8g18	UTSW	9	39,148,977 (GRCm39)	missense	probably benign	0.42
R7715:Or8g18	UTSW	9	39,149,174 (GRCm39)	missense	probably damaging	1.00
R7722:Or8g18	UTSW	9	39,148,885 (GRCm39)	nonsense	probably null
R7729:Or8g18	UTSW	9	39,149,546 (GRCm39)	missense	probably benign	0.28
R8710:Or8g18	UTSW	9	39,149,306 (GRCm39)	missense	probably benign	0.00
R9513:Or8g18	UTSW	9	39,149,625 (GRCm39)	missense	probably benign	0.05
R9515:Or8g18	UTSW	9	39,149,625 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AATCCTCACATGATTTCTGCTTACATG -3'
(R):5'- CATGCTTAGGACTCAGTTCTGC -3'

Sequencing Primer
(F):5'- CAGCATGGGTACAACAGT -3'
(R):5'- GCTTAGGACTCAGTTCTGCAATTTAG -3'

Posted On

2019-05-13