Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02104:Or5m8'

279872

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5m8

Ensembl Gene

ENSMUSG00000043267

Gene Name

olfactory receptor family 5 subfamily M member 8

Synonyms

GA_x6K02T2Q125-47470765-47471775, Olfr1031, MOR200-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL02104

Quality Score

Status

Chromosome

Chromosomal Location

85822163-85823173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85822730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 190 (D190Y)

Ref Sequence

ENSEMBL: ENSMUSP00000149225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050942] [ENSMUST00000056849] [ENSMUST00000216807]

AlphaFold

Q7TR87

Predicted Effect

probably damaging
Transcript: ENSMUST00000050942
AA Change: D190Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000059256
Gene: ENSMUSG00000043267
AA Change: D190Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1.1e-55	PFAM
Pfam:7tm_1	40	289	6.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056849

SMART Domains

Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	2.4e-58	PFAM
Pfam:7tm_1	47	296	3.2e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216807
AA Change: D190Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	C	7: 124,930,714 (GRCm39)		noncoding transcript	Het
Abcb5	T	A	12: 118,904,415 (GRCm39)	Q125L	probably damaging	Het
Acap3	G	A	4: 155,989,542 (GRCm39)	R662H	probably damaging	Het
Aox4	T	A	1: 58,275,816 (GRCm39)		probably benign	Het
Aqp6	T	C	15: 99,502,159 (GRCm39)	S285P	probably benign	Het
Arhgef5	A	T	6: 43,249,345 (GRCm39)	Q32L	probably damaging	Het
B3gnt6	G	T	7: 97,843,308 (GRCm39)	D217E	probably damaging	Het
Cfap251	T	A	5: 123,440,761 (GRCm39)	L1106*	probably null	Het
Chd6	T	C	2: 160,819,432 (GRCm39)	I1338V	probably benign	Het
Clic6	A	G	16: 92,295,367 (GRCm39)	E9G	possibly damaging	Het
Col11a1	T	A	3: 113,975,046 (GRCm39)		probably null	Het
Dcdc2b	T	A	4: 129,504,867 (GRCm39)	D88V	probably benign	Het
Dis3l	T	A	9: 64,217,611 (GRCm39)	K791N	possibly damaging	Het
Dmxl2	A	T	9: 54,311,299 (GRCm39)	Y1008*	probably null	Het
Dnah11	A	G	12: 118,156,125 (GRCm39)	V175A	probably benign	Het
Efl1	A	G	7: 82,307,263 (GRCm39)		probably null	Het
Fam117b	C	T	1: 59,988,278 (GRCm39)	T219I	probably benign	Het
Fgf21	T	A	7: 45,264,648 (GRCm39)	Q28L	probably benign	Het
Folh1	T	C	7: 86,393,638 (GRCm39)	Q391R	possibly damaging	Het
Gars1	A	G	6: 55,054,682 (GRCm39)	D663G	probably damaging	Het
Lats2	A	G	14: 57,971,469 (GRCm39)	F69L	probably damaging	Het
Lrp2	C	T	2: 69,340,762 (GRCm39)	V1038M	probably damaging	Het
Map3k1	A	T	13: 111,892,777 (GRCm39)	V826E	probably damaging	Het
Mapkap1	T	A	2: 34,513,482 (GRCm39)	Y497*	probably null	Het
Mast3	T	C	8: 71,240,550 (GRCm39)	I296V	possibly damaging	Het
Mon1a	T	G	9: 107,778,814 (GRCm39)	L346R	probably damaging	Het
Mphosph8	T	C	14: 56,912,036 (GRCm39)	L353S	probably benign	Het
Muc5ac	T	C	7: 141,364,815 (GRCm39)	Y2634H	probably damaging	Het
Mylk	A	G	16: 34,635,805 (GRCm39)	T9A	probably benign	Het
Or10j2	T	C	1: 173,098,603 (GRCm39)	V287A	probably damaging	Het
Or14j8	A	C	17: 38,263,182 (GRCm39)	H244Q	probably damaging	Het
Or55b3	C	A	7: 102,126,544 (GRCm39)	V178F	probably damaging	Het
Or5an6	T	A	19: 12,372,263 (GRCm39)	V212D	probably damaging	Het
Or5b122	T	A	19: 13,562,968 (GRCm39)	M57K	probably damaging	Het
Or7g25	A	T	9: 19,160,166 (GRCm39)	H176Q	probably benign	Het
Pabpc2	A	C	18: 39,907,936 (GRCm39)	Q400H	possibly damaging	Het
Pigg	A	G	5: 108,489,963 (GRCm39)	Y856C	probably damaging	Het
Plekhn1	A	T	4: 156,306,865 (GRCm39)	V508E	probably benign	Het
Pom121l2	C	A	13: 22,166,445 (GRCm39)	H239N	possibly damaging	Het
Prdm2	A	G	4: 142,859,997 (GRCm39)	S1098P	probably benign	Het
Rnf212	A	G	5: 108,895,306 (GRCm39)	I41T	possibly damaging	Het
Rngtt	A	G	4: 33,320,517 (GRCm39)		probably null	Het
Rpn2	C	T	2: 157,163,747 (GRCm39)	T613M	probably damaging	Het
Scd4	G	T	19: 44,333,186 (GRCm39)	V304F	possibly damaging	Het
Sez6l	A	G	5: 112,574,630 (GRCm39)		probably benign	Het
Shroom3	A	G	5: 93,088,248 (GRCm39)	R158G	probably benign	Het
Stil	T	C	4: 114,898,679 (GRCm39)	L1103P	probably damaging	Het
Tanc2	T	C	11: 105,670,959 (GRCm39)		probably benign	Het
Tmc1	C	T	19: 20,809,818 (GRCm39)	D255N	probably benign	Het
Trank1	C	A	9: 111,219,780 (GRCm39)	D2172E	possibly damaging	Het
Tyro3	G	A	2: 119,643,681 (GRCm39)	R718H	probably damaging	Het
Vamp2	C	A	11: 68,981,483 (GRCm39)	F114L	probably benign	Het

Other mutations in Or5m8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02475:Or5m8	APN	2	85,822,376 (GRCm39)	missense	probably benign	0.19
IGL03230:Or5m8	APN	2	85,822,583 (GRCm39)	missense	probably benign	0.00
IGL03405:Or5m8	APN	2	85,822,230 (GRCm39)	missense	possibly damaging	0.84
PIT4151001:Or5m8	UTSW	2	85,822,538 (GRCm39)	missense	probably damaging	0.96
PIT4366001:Or5m8	UTSW	2	85,822,385 (GRCm39)	missense	probably damaging	1.00
R0344:Or5m8	UTSW	2	85,822,726 (GRCm39)	nonsense	probably null
R1168:Or5m8	UTSW	2	85,823,028 (GRCm39)	missense	probably damaging	1.00
R1170:Or5m8	UTSW	2	85,823,040 (GRCm39)	missense	probably damaging	1.00
R2345:Or5m8	UTSW	2	85,822,166 (GRCm39)	missense	probably benign	0.01
R2915:Or5m8	UTSW	2	85,822,389 (GRCm39)	missense	probably damaging	1.00
R3498:Or5m8	UTSW	2	85,822,774 (GRCm39)	missense	probably benign	0.43
R4058:Or5m8	UTSW	2	85,822,576 (GRCm39)	missense	possibly damaging	0.87
R4747:Or5m8	UTSW	2	85,822,271 (GRCm39)	missense	probably damaging	1.00
R4859:Or5m8	UTSW	2	85,823,075 (GRCm39)	missense	probably damaging	0.96
R4991:Or5m8	UTSW	2	85,822,631 (GRCm39)	missense	probably damaging	0.99
R5438:Or5m8	UTSW	2	85,822,925 (GRCm39)	missense	probably damaging	1.00
R6362:Or5m8	UTSW	2	85,822,285 (GRCm39)	missense	probably damaging	1.00
R7458:Or5m8	UTSW	2	85,822,994 (GRCm39)	missense	probably damaging	1.00
R7535:Or5m8	UTSW	2	85,822,245 (GRCm39)	missense	probably benign	0.37
R8807:Or5m8	UTSW	2	85,823,172 (GRCm39)	makesense	probably null
R9130:Or5m8	UTSW	2	85,822,819 (GRCm39)	nonsense	probably null
R9366:Or5m8	UTSW	2	85,822,731 (GRCm39)	missense	possibly damaging	0.88
R9687:Or5m8	UTSW	2	85,822,220 (GRCm39)	missense	probably benign
R9746:Or5m8	UTSW	2	85,823,091 (GRCm39)	missense	probably benign	0.18
R9794:Or5m8	UTSW	2	85,822,464 (GRCm39)	missense	probably benign	0.16

Posted On

2015-04-16