Mutagenetix > Incidental Mutation

Incidental Mutation 'R1629:Or5m3b'

172659

Institutional Source

Beutler Lab

Gene Symbol

Or5m3b

Ensembl Gene

ENSMUSG00000045392

Gene Name

olfactory receptor family 5 subfamily M member 3B

Synonyms

GA_x6K02T2Q125-47516301-47517233, Olfr1033, MOR199-2

MMRRC Submission

039666-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85850984-85875152 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85871766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 36 (T36A)

Ref Sequence

ENSEMBL: ENSMUSP00000150625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111589] [ENSMUST00000213496] [ENSMUST00000213774] [ENSMUST00000213865] [ENSMUST00000214546] [ENSMUST00000215682] [ENSMUST00000218397]

AlphaFold

Q8VFK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000111589
AA Change: T36A

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

SMART Domains

Protein: ENSMUSP00000107216
Gene: ENSMUSG00000042796
AA Change: T36A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.4e-50	PFAM
Pfam:7tm_1	39	288	3.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213496

Predicted Effect

probably damaging
Transcript: ENSMUST00000213774
AA Change: T36A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213865
AA Change: T36A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214546
AA Change: T36A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215682
AA Change: T36A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000218397
AA Change: T36A

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	C	18: 59,087,691 (GRCm39)	I574L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
BC005624	T	C	2: 30,864,020 (GRCm39)	E191G	probably damaging	Het
Cbx2	A	G	11: 118,919,806 (GRCm39)	D457G	probably damaging	Het
Ccdc110	A	G	8: 46,395,164 (GRCm39)	K352E	probably benign	Het
Cdk14	A	T	5: 5,153,807 (GRCm39)	H183Q	probably benign	Het
Cfap58	A	G	19: 47,929,778 (GRCm39)	T80A	probably benign	Het
Cftr	C	T	6: 18,226,105 (GRCm39)	T351I	probably damaging	Het
Col27a1	A	G	4: 63,248,100 (GRCm39)		probably benign	Het
Cp	T	A	3: 20,020,614 (GRCm39)		probably null	Het
Cpne8	A	T	15: 90,456,175 (GRCm39)	V196E	probably benign	Het
Dmxl1	T	G	18: 49,992,353 (GRCm39)		probably null	Het
Dnm2	T	A	9: 21,415,754 (GRCm39)	L642Q	probably damaging	Het
Dock2	G	T	11: 34,212,480 (GRCm39)		probably null	Het
Dock9	A	G	14: 121,780,986 (GRCm39)	F2091L	possibly damaging	Het
Eaf2	A	G	16: 36,645,063 (GRCm39)	V53A	probably damaging	Het
Fbl	G	T	7: 27,874,212 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,159,610 (GRCm39)	D2373G	probably damaging	Het
Gbp2b	A	G	3: 142,316,735 (GRCm39)	Y462C	possibly damaging	Het
Il1rl2	T	A	1: 40,396,020 (GRCm39)	F348I	probably benign	Het
Khdc1a	T	A	1: 21,421,121 (GRCm39)	I102N	possibly damaging	Het
Klhl11	T	C	11: 100,355,012 (GRCm39)	T270A	probably benign	Het
Lama1	T	C	17: 68,112,423 (GRCm39)	S2288P	probably benign	Het
Lrfn4	T	C	19: 4,663,523 (GRCm39)	E337G	possibly damaging	Het
Macf1	C	A	4: 123,402,208 (GRCm39)	E549*	probably null	Het
Mmp3	G	T	9: 7,447,641 (GRCm39)	V209F	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh9	G	A	15: 77,648,601 (GRCm39)	R1725W	probably damaging	Het
Nbea	A	T	3: 55,910,312 (GRCm39)	D1294E	possibly damaging	Het
Nrcam	G	A	12: 44,610,769 (GRCm39)	A496T	probably benign	Het
Nufip2	A	G	11: 77,583,834 (GRCm39)	T583A	probably benign	Het
Ppig	C	A	2: 69,566,217 (GRCm39)	T128K	probably damaging	Het
Ppp2r2a	A	T	14: 67,257,208 (GRCm39)	C341S	possibly damaging	Het
Ptpre	A	T	7: 135,271,528 (GRCm39)	D374V	probably damaging	Het
Ranbp3l	A	C	15: 9,065,068 (GRCm39)	Q485P	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Slc1a7	A	G	4: 107,865,340 (GRCm39)	Y276C	probably damaging	Het
Smarcad1	A	G	6: 65,044,091 (GRCm39)	D221G	probably benign	Het
Smn1	C	A	13: 100,264,404 (GRCm39)	T45N	probably damaging	Het
Son	T	C	16: 91,454,510 (GRCm39)	S1086P	probably damaging	Het
Ssmem1	T	A	6: 30,512,491 (GRCm39)	Y45N	possibly damaging	Het
Tasor2	T	C	13: 3,624,121 (GRCm39)	H1943R	possibly damaging	Het
Tmem184c	A	C	8: 78,329,551 (GRCm39)	F170V	possibly damaging	Het
Tmem184c	A	T	8: 78,332,791 (GRCm39)		probably null	Het
Vmn1r59	C	T	7: 5,457,466 (GRCm39)	C98Y	probably damaging	Het
Vmn2r23	T	A	6: 123,690,386 (GRCm39)	S421T	probably benign	Het
Vmn2r98	T	C	17: 19,287,645 (GRCm39)	S493P	possibly damaging	Het

Other mutations in Or5m3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01647:Or5m3b	APN	2	85,872,441 (GRCm39)	missense	probably damaging	1.00
IGL01745:Or5m3b	APN	2	85,872,381 (GRCm39)	missense	possibly damaging	0.74
IGL02317:Or5m3b	APN	2	85,871,913 (GRCm39)	missense	probably damaging	0.99
IGL02400:Or5m3b	APN	2	85,872,420 (GRCm39)	missense	probably benign	0.00
R0692:Or5m3b	UTSW	2	85,872,516 (GRCm39)	missense	probably benign	0.00
R2105:Or5m3b	UTSW	2	85,871,674 (GRCm39)	missense	probably damaging	0.97
R2288:Or5m3b	UTSW	2	85,872,377 (GRCm39)	nonsense	probably null
R4451:Or5m3b	UTSW	2	85,872,303 (GRCm39)	missense	probably damaging	1.00
R4512:Or5m3b	UTSW	2	85,871,913 (GRCm39)	missense	probably damaging	0.99
R4878:Or5m3b	UTSW	2	85,871,799 (GRCm39)	missense	probably benign	0.08
R5442:Or5m3b	UTSW	2	85,872,295 (GRCm39)	missense	probably benign	0.29
R5867:Or5m3b	UTSW	2	85,871,795 (GRCm39)	missense	probably benign	0.01
R7849:Or5m3b	UTSW	2	85,871,949 (GRCm39)	missense	probably benign	0.00
R7881:Or5m3b	UTSW	2	85,871,814 (GRCm39)	missense	probably benign	0.03
Z1088:Or5m3b	UTSW	2	85,872,063 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCCAAGAAATGTGGCTTATGTTCCC -3'
(R):5'- TTGTCTTTGACAGCAAGTTTTCCAGC -3'

Sequencing Primer
(F):5'- ttgggaggtagaggcagg -3'
(R):5'- CCAGCATTTTAGGAGTGACATTG -3'

Posted On

2014-04-24