Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4468001:Or5m5'

555625

Institutional Source

Beutler Lab

Gene Symbol

Or5m5

Ensembl Gene

ENSMUSG00000044923

Gene Name

olfactory receptor family 5 subfamily M member 5

Synonyms

MOR196-2, Olfr1030, GA_x6K02T2Q125-47462755-47463693

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

PIT4468001 (G1)

Quality Score

195.009

Status

Not validated

Chromosome

Chromosomal Location

85809656-85815142 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85814792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 203 (T203S)

Ref Sequence

ENSEMBL: ENSMUSP00000053309 (fasta)

Gene Model

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

AlphaFold

Q8VFL5

Predicted Effect

probably benign
Transcript: ENSMUST00000056849
AA Change: T203S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923
AA Change: T203S

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

Coding Region Coverage

1x: 93.0%
3x: 90.7%
10x: 85.2%
20x: 72.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	C	T	14: 4,348,940 (GRCm38)	L34F	probably damaging	Het
Alms1	T	C	6: 85,601,701 (GRCm39)		probably null	Het
Arhgap15	C	A	2: 44,133,143 (GRCm39)	Q350K	probably damaging	Het
Bbs1	T	A	19: 4,956,190 (GRCm39)	H35L	probably benign	Het
Cep85	T	C	4: 133,876,008 (GRCm39)	N468S	probably damaging	Het
Chd8	T	C	14: 52,455,338 (GRCm39)	I1050V	possibly damaging	Het
Chd8	A	C	14: 52,445,453 (GRCm39)	D1709E	probably benign	Het
Clec9a	G	A	6: 129,396,597 (GRCm39)		probably null	Het
Cyp2c70	T	A	19: 40,153,806 (GRCm39)	D261V	probably damaging	Het
Deup1	T	C	9: 15,475,301 (GRCm39)	N420D	possibly damaging	Het
Dpys	T	A	15: 39,720,601 (GRCm39)	D53V	probably damaging	Het
Edem1	A	G	6: 108,821,828 (GRCm39)	E295G	probably damaging	Het
Farp2	G	T	1: 93,456,499 (GRCm39)	E61*	probably null	Het
Fat3	T	G	9: 15,907,647 (GRCm39)	D2785A	probably benign	Het
Fbxo30	T	A	10: 11,166,700 (GRCm39)	M474K	possibly damaging	Het
Gm13090	C	A	4: 151,175,539 (GRCm39)	P93Q	unknown	Het
Gm21976	A	T	13: 98,443,535 (GRCm39)	R229*	probably null	Het
Gpr108	A	T	17: 57,554,563 (GRCm39)	L25Q	probably null	Het
Hdac9	C	A	12: 34,145,933 (GRCm39)	V920F	unknown	Het
Ighv13-2	T	C	12: 114,321,593 (GRCm39)	S49G	probably benign	Het
Krt6a	T	C	15: 101,602,352 (GRCm39)	Y111C	probably damaging	Het
Mib1	T	C	18: 10,798,463 (GRCm39)	S775P	possibly damaging	Het
Mki67	A	G	7: 135,300,876 (GRCm39)	I1386T	probably benign	Het
Mroh2b	A	G	15: 4,942,294 (GRCm39)	E352G	probably damaging	Het
Nfya	A	G	17: 48,702,805 (GRCm39)	M61T	unknown	Het
Ntn4	A	G	10: 93,480,587 (GRCm39)	T104A	probably damaging	Het
Numb	G	A	12: 83,854,921 (GRCm39)	T135I	probably damaging	Het
Or4b12	C	A	2: 90,096,564 (GRCm39)	C70F	probably benign	Het
Or52ab4	A	C	7: 102,987,807 (GRCm39)	E182A	probably damaging	Het
Parpbp	A	C	10: 87,979,935 (GRCm39)	L7R	probably benign	Het
Pcdhb8	T	C	18: 37,489,686 (GRCm39)	Y455H	probably damaging	Het
Pcdhga10	T	A	18: 37,880,936 (GRCm39)	D232E	probably damaging	Het
Pcdhga9	T	A	18: 37,872,527 (GRCm39)	C785*	probably null	Het
Pkd1l3	A	G	8: 110,391,131 (GRCm39)	Y1913C	possibly damaging	Het
Pld4	T	G	12: 112,734,256 (GRCm39)	L374R	probably damaging	Het
Ppp1r13b	A	T	12: 111,805,136 (GRCm39)	I350N	probably benign	Het
Rc3h2	C	A	2: 37,289,651 (GRCm39)	G387V	probably damaging	Het
Rfwd3	T	C	8: 112,009,352 (GRCm39)	H408R	probably benign	Het
Rpl3l	A	G	17: 24,954,457 (GRCm39)	T173A	probably benign	Het
Sdad1	T	C	5: 92,439,777 (GRCm39)	D416G	probably damaging	Het
Srp72	C	A	5: 77,142,053 (GRCm39)	T430K	probably benign	Het
Steap1	C	A	5: 5,786,642 (GRCm39)	G265V	probably damaging	Het
Sulf2	A	T	2: 165,922,720 (GRCm39)	I670N	probably benign	Het
Tcf7l2	A	T	19: 55,730,820 (GRCm39)	D16V	probably damaging	Het
Tmem100	T	A	11: 89,926,187 (GRCm39)	S5T	probably benign	Het
Tnc	C	A	4: 63,882,904 (GRCm39)	D1906Y	probably damaging	Het
Trak1	T	C	9: 121,282,398 (GRCm39)	S436P	probably benign	Het
Ttyh1	T	C	7: 4,122,771 (GRCm39)	Y40H	possibly damaging	Het
Ubxn8	T	A	8: 34,111,569 (GRCm39)	S275C	probably benign	Het
Umodl1	A	G	17: 31,178,252 (GRCm39)	Y76C	probably damaging	Het
Upk3b	C	T	5: 136,071,861 (GRCm39)	T222M	probably benign	Het
Usp42	T	A	5: 143,700,399 (GRCm39)	K1208M	probably damaging	Het
Vmn2r25	A	T	6: 123,816,557 (GRCm39)	D341E	probably benign	Het
Vmn2r83	T	G	10: 79,313,884 (GRCm39)	L164R	probably damaging	Het
Vwa8	G	T	14: 79,420,501 (GRCm39)	R1734L	probably damaging	Het
Zfand2b	G	T	1: 75,146,476 (GRCm39)	R117L	probably benign	Het

Other mutations in Or5m5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01775:Or5m5	APN	2	85,815,014 (GRCm39)	missense	probably damaging	0.99
IGL01795:Or5m5	APN	2	85,814,478 (GRCm39)	missense	probably damaging	1.00
IGL02395:Or5m5	APN	2	85,814,426 (GRCm39)	missense	possibly damaging	0.76
IGL03277:Or5m5	APN	2	85,814,517 (GRCm39)	missense	probably damaging	0.99
R0458:Or5m5	UTSW	2	85,814,600 (GRCm39)	missense	probably benign	0.00
R1114:Or5m5	UTSW	2	85,814,651 (GRCm39)	missense	probably benign
R1642:Or5m5	UTSW	2	85,814,201 (GRCm39)	missense	probably benign	0.00
R2189:Or5m5	UTSW	2	85,814,412 (GRCm39)	missense	probably damaging	1.00
R4094:Or5m5	UTSW	2	85,814,562 (GRCm39)	missense	probably damaging	1.00
R4246:Or5m5	UTSW	2	85,814,624 (GRCm39)	missense	possibly damaging	0.90
R4677:Or5m5	UTSW	2	85,814,315 (GRCm39)	missense	possibly damaging	0.61
R5537:Or5m5	UTSW	2	85,814,570 (GRCm39)	missense	possibly damaging	0.83
R6018:Or5m5	UTSW	2	85,815,148 (GRCm39)	utr 3 prime	probably benign
R6531:Or5m5	UTSW	2	85,814,651 (GRCm39)	missense	probably benign
R7367:Or5m5	UTSW	2	85,814,687 (GRCm39)	missense	possibly damaging	0.68
R7611:Or5m5	UTSW	2	85,814,407 (GRCm39)	nonsense	probably null
R7693:Or5m5	UTSW	2	85,814,979 (GRCm39)	missense	probably damaging	1.00
R7753:Or5m5	UTSW	2	85,815,060 (GRCm39)	missense	possibly damaging	0.75
R8940:Or5m5	UTSW	2	85,814,543 (GRCm39)	missense	probably benign
R8961:Or5m5	UTSW	2	85,814,610 (GRCm39)	missense	probably damaging	1.00
R9049:Or5m5	UTSW	2	85,814,235 (GRCm39)	missense	possibly damaging	0.49
R9202:Or5m5	UTSW	2	85,814,801 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCCAAAGGTGTATGTGTGCG -3'
(R):5'- TGGACTGCTCCACTGATTTATC -3'

Sequencing Primer
(F):5'- GCGTCTGATTGCTGGTCCC -3'
(R):5'- ATCTGTGGGAGGTCTAACATACATGC -3'

Posted On

2019-06-07