Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4151001:Or5m8'

557001

Institutional Source

Beutler Lab

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 #

PIT4151001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85822163-85823173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85822538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 126 (C126R)

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: C126R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059256
Gene: ENSMUSG00000043267
AA Change: C126R

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: C126R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 92.7%
3x: 90.4%
10x: 84.6%
20x: 72.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,930,670 (GRCm39)	L1389P	probably damaging	Het
Acot10	C	T	15: 20,666,684 (GRCm39)	G19D	probably damaging	Het
Adam20	G	A	8: 41,248,081 (GRCm39)	V64I	possibly damaging	Het
Ak6	T	A	13: 100,791,603 (GRCm39)	D15E	probably damaging	Het
Atp1a2	A	G	1: 172,118,288 (GRCm39)	Y129H	probably damaging	Het
Caskin1	C	T	17: 24,721,193 (GRCm39)	T511I	probably damaging	Het
Casp9	C	T	4: 141,521,259 (GRCm39)	R32*	probably null	Het
Ccdc40	A	G	11: 119,133,277 (GRCm39)	E445G	probably damaging	Het
Cct8	T	C	16: 87,284,545 (GRCm39)	E273G	probably damaging	Het
Chd5	G	A	4: 152,462,986 (GRCm39)	V1380I	probably damaging	Het
Coro2b	C	T	9: 62,336,286 (GRCm39)	G272D	probably damaging	Het
Cyp4a10	C	A	4: 115,382,072 (GRCm39)	H251Q	probably damaging	Het
Dgki	A	T	6: 37,040,916 (GRCm39)	H298Q	probably benign	Het
Dnmt3b	T	G	2: 153,526,399 (GRCm39)		probably null	Het
Dzip1	A	G	14: 119,160,200 (GRCm39)	F3L	probably damaging	Het
Egf	A	G	3: 129,496,198 (GRCm39)	S807P	probably benign	Het
Emc10	C	T	7: 44,142,627 (GRCm39)	R105H		Het
Enthd1	T	C	15: 80,336,937 (GRCm39)	E499G	probably damaging	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Fer1l5	T	A	1: 36,450,728 (GRCm39)	M1242K	probably benign	Het
Gm3415	A	G	5: 146,493,079 (GRCm39)	R36G	probably benign	Het
Gm5797	C	A	14: 7,330,318 (GRCm38)	M114I	possibly damaging	Het
Gmppa	A	T	1: 75,418,468 (GRCm39)	R284*	probably null	Het
Homer1	G	C	13: 93,485,724 (GRCm39)	K118N	probably damaging	Het
Ivl	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,479,608 (GRCm39)		probably benign	Het
Kcnc4	G	A	3: 107,366,019 (GRCm39)	A63V	probably damaging	Het
Kif11	T	A	19: 37,373,045 (GRCm39)	I88N	probably damaging	Het
Krba1	T	C	6: 48,379,831 (GRCm39)	F9S	probably damaging	Het
Nckap1	A	G	2: 80,350,714 (GRCm39)		probably null	Het
Nox4	A	T	7: 86,954,097 (GRCm39)	Y134F	probably benign	Het
Or4a79	T	A	2: 89,552,237 (GRCm39)	T73S	probably benign	Het
Or51f23c-ps1	T	C	7: 102,431,465 (GRCm39)	S261P	probably benign	Het
Or52e15	A	G	7: 104,645,424 (GRCm39)	L229P	probably damaging	Het
Or5m13b	T	A	2: 85,754,386 (GRCm39)	M258K	probably damaging	Het
Or8k22	G	T	2: 86,163,173 (GRCm39)	H176N	possibly damaging	Het
Pcdh17	G	T	14: 84,684,798 (GRCm39)	V422L	probably benign	Het
Pcx	T	A	19: 4,653,157 (GRCm39)	V275E	probably damaging	Het
Pde6h	A	T	6: 136,938,185 (GRCm39)	M53L	possibly damaging	Het
Phactr3	A	T	2: 177,975,861 (GRCm39)	E535D	probably damaging	Het
Pkn3	C	A	2: 29,980,539 (GRCm39)	T810N	probably damaging	Het
Pnpla5	T	C	15: 84,002,827 (GRCm39)	E252G	probably damaging	Het
Pramel21	T	A	4: 143,342,722 (GRCm39)	C276*	probably null	Het
Psg17	A	G	7: 18,548,530 (GRCm39)	S414P	probably benign	Het
Pzp	T	A	6: 128,502,259 (GRCm39)	Q30L	probably benign	Het
Reln	A	T	5: 22,491,894 (GRCm39)	F113I	possibly damaging	Het
Ret	T	C	6: 118,141,702 (GRCm39)	D975G	probably benign	Het
Sarnp	A	G	10: 128,713,235 (GRCm39)	I209V	probably benign	Het
Sorl1	A	T	9: 41,879,918 (GRCm39)	V2210D	probably damaging	Het
Stard9	C	T	2: 120,533,237 (GRCm39)	Q3165*	probably null	Het
Tmem64	A	T	4: 15,283,159 (GRCm39)	I319F	probably damaging	Het
Vmn1r176	A	T	7: 23,534,808 (GRCm39)	V115D	probably damaging	Het
Vmn1r2	A	G	4: 3,172,623 (GRCm39)	T181A	probably benign	Het
Vmn2r2	T	C	3: 64,024,334 (GRCm39)	E749G	possibly damaging	Het
Vps35	G	A	8: 86,010,677 (GRCm39)	T222I	possibly damaging	Het
Zfp532	A	G	18: 65,757,485 (GRCm39)	T473A	probably damaging	Het
Zfyve16	A	G	13: 92,657,712 (GRCm39)	V733A	probably damaging	Het
Zranb1	T	A	7: 132,551,723 (GRCm39)	S125T	probably benign	Het

Other mutations in Or5m8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Or5m8	APN	2	85,822,730 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCTGCTCATCAAGGCCAATG -3'
(R):5'- TCAATGGTGGATCAGCACAATAG -3'

Sequencing Primer
(F):5'- TGAGCCACTTATCCTTTGTGG -3'
(R):5'- GAAGTGATTGATTTCATTGTGGCCAC -3'

Posted On

2019-06-07