Mutagenetix > Incidental Mutation

Incidental Mutation 'R9283:Or5b12b'

703781

Institutional Source

Beutler Lab

Gene Symbol

Or5b12b

Ensembl Gene

ENSMUSG00000045126

Gene Name

olfactory receptor family 5 subfamily B member 12B

Synonyms

MOR202-7, GA_x6K02T2RE5P-3213352-3214296, Olfr1445

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R9283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12861247-12862191 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12861961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 239 (C239S)

Ref Sequence

ENSEMBL: ENSMUSP00000058933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049624] [ENSMUST00000216805]

AlphaFold

Q8VFW9

Predicted Effect

probably damaging
Transcript: ENSMUST00000049624
AA Change: C239S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058933
Gene: ENSMUSG00000045126
AA Change: C239S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.7e-54	PFAM
Pfam:7tm_1	39	288	4.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216805

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,258,499 (GRCm39)	V47A	probably benign	Het
Aamdc	A	G	7: 97,199,842 (GRCm39)	V140A	probably benign	Het
Acsm3	T	A	7: 119,373,115 (GRCm39)	M206K	possibly damaging	Het
Adprhl1	T	C	8: 13,273,540 (GRCm39)	T1073A	probably benign	Het
Aoc1	A	G	6: 48,882,261 (GRCm39)	I46V	probably benign	Het
Ap4b1	A	G	3: 103,722,259 (GRCm39)	S246G	probably damaging	Het
Bach1	A	G	16: 87,516,211 (GRCm39)	T251A	probably benign	Het
Cry2	A	G	2: 92,244,249 (GRCm39)	L308P	probably damaging	Het
Daam1	G	T	12: 72,035,696 (GRCm39)	G964C	probably damaging	Het
Ddx10	T	G	9: 53,146,656 (GRCm39)	N189H	probably benign	Het
Dlg4	T	A	11: 69,922,617 (GRCm39)	C241*	probably null	Het
Dpy19l1	G	T	9: 24,332,412 (GRCm39)	Y489*	probably null	Het
E2f4	C	A	8: 106,024,395 (GRCm39)	A8E	probably benign	Het
Gm3486	T	C	14: 41,210,268 (GRCm39)	N71S	possibly damaging	Het
Ighv1-23	A	G	12: 114,728,225 (GRCm39)	W66R	probably damaging	Het
Kcnh5	A	G	12: 75,023,307 (GRCm39)	L587P	probably damaging	Het
Kctd16	T	C	18: 40,392,233 (GRCm39)	Y274H	possibly damaging	Het
Kif16b	T	A	2: 142,554,900 (GRCm39)	M633L	probably benign	Het
Kif23	T	C	9: 61,852,651 (GRCm39)	N21S	probably benign	Het
Lamtor3	C	T	3: 137,633,123 (GRCm39)	R85C	probably benign	Het
Lin9	A	T	1: 180,493,493 (GRCm39)	T240S	probably damaging	Het
Mtus1	C	A	8: 41,536,519 (GRCm39)	G399V	probably benign	Het
Mup8	C	T	4: 60,221,903 (GRCm39)	V77I	probably benign	Het
Myo5b	C	T	18: 74,777,149 (GRCm39)	A403V	probably benign	Het
Naf1	C	A	8: 67,313,503 (GRCm39)	A162E	unknown	Het
Nat10	G	A	2: 103,556,092 (GRCm39)	Q910*	probably null	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Npas2	A	G	1: 39,326,689 (GRCm39)	K58R	probably damaging	Het
Nsd2	A	T	5: 34,001,058 (GRCm39)	I192F	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Ophn1	G	A	X: 97,622,145 (GRCm39)	T668M	probably benign	Het
Or10a3	C	T	7: 108,480,289 (GRCm39)	A175T	probably benign	Het
Or2d4	G	A	7: 106,543,806 (GRCm39)	T134I	probably benign	Het
Or5b105	C	A	19: 13,079,821 (GRCm39)	M282I	probably damaging	Het
Or7e177	A	G	9: 20,212,419 (GRCm39)	K309E	possibly damaging	Het
Pcdh17	C	T	14: 84,685,593 (GRCm39)	P687S	possibly damaging	Het
Pdpr	C	T	8: 111,856,268 (GRCm39)	R664W	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pfas	A	T	11: 68,884,708 (GRCm39)	V498E	probably damaging	Het
Pfpl	A	T	19: 12,406,220 (GRCm39)	Y157F	probably damaging	Het
Piezo2	A	T	18: 63,157,637 (GRCm39)	F2358I	probably damaging	Het
Pip5k1b	T	C	19: 24,337,376 (GRCm39)	Y304C	probably damaging	Het
Pls1	G	A	9: 95,655,642 (GRCm39)	A370V	probably benign	Het
Polm	A	T	11: 5,779,050 (GRCm39)	L490H	probably damaging	Het
Prdm5	T	C	6: 65,858,060 (GRCm39)	C375R	probably damaging	Het
Scmh1	A	T	4: 120,319,337 (GRCm39)	M21L	probably benign	Het
Sec16a	C	A	2: 26,313,904 (GRCm39)	R449S		Het
Sin3a	C	T	9: 57,002,717 (GRCm39)	T203I	probably damaging	Het
Six5	A	G	7: 18,829,148 (GRCm39)	E196G	probably damaging	Het
Skint8	T	C	4: 111,785,644 (GRCm39)	V30A	probably damaging	Het
Slc2a12	G	A	10: 22,540,511 (GRCm39)	G122E	probably damaging	Het
Smim14	A	G	5: 65,625,780 (GRCm39)	C11R	probably damaging	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tanc1	T	C	2: 59,630,174 (GRCm39)	I718T	probably damaging	Het
Tead4	A	G	6: 128,205,592 (GRCm39)	L370P	probably damaging	Het
Tnrc6c	A	G	11: 117,591,630 (GRCm39)	K15E	unknown	Het
Trim55	T	G	3: 19,699,612 (GRCm39)		probably null	Het
Trpm1	A	T	7: 63,873,623 (GRCm39)	N510I	probably benign	Het
Trps1	A	G	15: 50,694,447 (GRCm39)	V616A	probably damaging	Het
Usp42	A	T	5: 143,705,264 (GRCm39)	V405E	probably damaging	Het
Zfp11	A	T	5: 129,734,748 (GRCm39)	S238T	probably damaging	Het
Zfp608	T	C	18: 55,030,913 (GRCm39)	H1009R	possibly damaging	Het

Other mutations in Or5b12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Or5b12b	APN	19	12,861,265 (GRCm39)	missense	probably benign	0.03
IGL01786:Or5b12b	APN	19	12,861,641 (GRCm39)	missense	probably damaging	0.99
IGL02375:Or5b12b	APN	19	12,861,305 (GRCm39)	missense	probably benign	0.00
IGL03220:Or5b12b	APN	19	12,861,815 (GRCm39)	missense	possibly damaging	0.80
IGL03232:Or5b12b	APN	19	12,861,636 (GRCm39)	nonsense	probably null
R0505:Or5b12b	UTSW	19	12,861,910 (GRCm39)	missense	probably damaging	1.00
R0505:Or5b12b	UTSW	19	12,861,443 (GRCm39)	missense	probably damaging	1.00
R0541:Or5b12b	UTSW	19	12,861,458 (GRCm39)	missense	probably damaging	1.00
R0681:Or5b12b	UTSW	19	12,861,910 (GRCm39)	missense	probably damaging	1.00
R0681:Or5b12b	UTSW	19	12,861,443 (GRCm39)	missense	probably damaging	1.00
R2187:Or5b12b	UTSW	19	12,861,619 (GRCm39)	missense	probably damaging	1.00
R2231:Or5b12b	UTSW	19	12,861,313 (GRCm39)	missense	probably benign	0.00
R3706:Or5b12b	UTSW	19	12,861,260 (GRCm39)	missense	probably damaging	1.00
R4698:Or5b12b	UTSW	19	12,861,985 (GRCm39)	missense	probably benign	0.08
R5558:Or5b12b	UTSW	19	12,861,751 (GRCm39)	missense	probably benign	0.01
R6163:Or5b12b	UTSW	19	12,861,472 (GRCm39)	missense	probably damaging	1.00
R7057:Or5b12b	UTSW	19	12,862,006 (GRCm39)	missense	probably damaging	0.98
R7063:Or5b12b	UTSW	19	12,861,449 (GRCm39)	missense	probably damaging	1.00
R7705:Or5b12b	UTSW	19	12,861,871 (GRCm39)	missense	probably benign	0.01
R8073:Or5b12b	UTSW	19	12,861,980 (GRCm39)	missense	probably benign	0.00
R8174:Or5b12b	UTSW	19	12,861,268 (GRCm39)	missense	probably benign	0.04
R8922:Or5b12b	UTSW	19	12,861,458 (GRCm39)	missense	probably damaging	1.00
R9461:Or5b12b	UTSW	19	12,861,875 (GRCm39)	missense	possibly damaging	0.54
R9590:Or5b12b	UTSW	19	12,861,980 (GRCm39)	missense	probably benign
R9784:Or5b12b	UTSW	19	12,861,874 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CCTGGCCCTATCATGTTCAGAC -3'
(R):5'- ACTGCCTTTGTGCAGGTTC -3'

Sequencing Primer
(F):5'- ACACTTCTGTCAGTGAGATGG -3'
(R):5'- GAGAAATTTTGGCTTTCTCCACAGC -3'

Posted On

2022-03-25