Mutagenetix > Incidental Mutation

Incidental Mutation 'R1568:Or5b112'

175456

Institutional Source

Beutler Lab

Gene Symbol

Or5b112

Ensembl Gene

ENSMUSG00000096485

Gene Name

olfactory receptor family 5 subfamily B member 112

Synonyms

GA_x6K02T2RE5P-3672907-3673839, Olfr1466, MOR202-12

MMRRC Submission

039607-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R1568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13319124-13321692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 13319539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 139 (P139Q)

Ref Sequence

ENSEMBL: ENSMUSP00000147188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075868] [ENSMUST00000207124]

AlphaFold

Q8VFW4

Predicted Effect

probably benign
Transcript: ENSMUST00000075868
AA Change: P139Q

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000075265
Gene: ENSMUSG00000096485
AA Change: P139Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	310	4.1e-49	PFAM
Pfam:7TM_GPCR_Srsx	36	306	1.9e-6	PFAM
Pfam:7tm_1	42	291	7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207124
AA Change: P139Q

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	G	8: 25,137,799 (GRCm39)		probably null	Het
Adgb	A	T	10: 10,318,409 (GRCm39)	Y138*	probably null	Het
Adra1d	T	C	2: 131,388,092 (GRCm39)	R488G	possibly damaging	Het
Ahnak	G	A	19: 8,979,739 (GRCm39)	G341E	probably damaging	Het
Ankmy1	T	C	1: 92,808,838 (GRCm39)	D690G	probably damaging	Het
Arhgef38	C	T	3: 132,838,225 (GRCm39)	E21K	probably damaging	Het
Atp8b2	T	C	3: 89,857,155 (GRCm39)	M402V	probably damaging	Het
Atp8b4	G	T	2: 126,167,314 (GRCm39)	H1062N	probably benign	Het
Bdnf	A	G	2: 109,554,139 (GRCm39)	H131R	probably damaging	Het
Cblb	C	T	16: 51,956,192 (GRCm39)	T265M	probably damaging	Het
Cenpe	T	A	3: 134,945,519 (GRCm39)	M1011K	probably benign	Het
Clca3a2	A	T	3: 144,781,410 (GRCm39)	Y711*	probably null	Het
Clca4a	A	G	3: 144,658,690 (GRCm39)	Y842H	probably benign	Het
Clspn	T	A	4: 126,475,310 (GRCm39)	M1021K	probably benign	Het
Cpne8	G	T	15: 90,503,845 (GRCm39)	R107S	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Dnah5	T	A	15: 28,409,323 (GRCm39)	N3580K	probably damaging	Het
Dsp	T	C	13: 38,359,123 (GRCm39)	I298T	probably damaging	Het
Dync2h1	T	C	9: 7,157,553 (GRCm39)	K858R	probably null	Het
Fasn	A	T	11: 120,704,075 (GRCm39)	V1448E	possibly damaging	Het
Ghdc	A	G	11: 100,659,331 (GRCm39)	I322T	probably benign	Het
Gins2	T	C	8: 121,308,939 (GRCm39)	D105G	probably damaging	Het
Insr	A	T	8: 3,215,576 (GRCm39)	D975E	probably benign	Het
Klrc3	T	C	6: 129,616,510 (GRCm39)	D169G	probably benign	Het
Krt76	T	A	15: 101,793,443 (GRCm39)	S532C	unknown	Het
Lamp3	A	T	16: 19,492,275 (GRCm39)	M323K	probably damaging	Het
Lgmn	T	C	12: 102,360,868 (GRCm39)	I423M	possibly damaging	Het
Lpgat1	A	T	1: 191,508,538 (GRCm39)	T359S	possibly damaging	Het
Lrguk	T	A	6: 34,063,373 (GRCm39)	I466N	probably damaging	Het
Magi3	A	C	3: 103,996,843 (GRCm39)	M234R	probably benign	Het
Myh14	G	A	7: 44,261,122 (GRCm39)	R1042*	probably null	Het
Nfia	T	G	4: 97,999,461 (GRCm39)	Y378D	possibly damaging	Het
Npffr1	T	A	10: 61,462,012 (GRCm39)	S383T	possibly damaging	Het
Or4f57	C	A	2: 111,790,585 (GRCm39)	V278F	probably benign	Het
Or52n4	T	A	7: 104,293,977 (GRCm39)	I199F	probably benign	Het
Or9s14	T	C	1: 92,535,676 (GRCm39)	L39P	probably damaging	Het
Osr1	G	A	12: 9,629,798 (GRCm39)		probably null	Het
Pde4b	A	C	4: 102,454,896 (GRCm39)	R375S	probably damaging	Het
Pde8a	A	G	7: 80,942,011 (GRCm39)	E150G	probably damaging	Het
Pkhd1l1	A	T	15: 44,408,897 (GRCm39)		probably null	Het
Ppp3ca	A	G	3: 136,634,305 (GRCm39)	T422A	probably benign	Het
Proser1	T	C	3: 53,385,180 (GRCm39)	V354A	possibly damaging	Het
Rgs20	G	T	1: 5,091,050 (GRCm39)	R127S	probably benign	Het
Sanbr	T	C	11: 23,539,971 (GRCm39)	K48E	probably damaging	Het
Sec22a	T	C	16: 35,167,998 (GRCm39)	D171G	probably benign	Het
Secisbp2	A	G	13: 51,827,143 (GRCm39)	E417G	possibly damaging	Het
Serpinb6b	T	C	13: 33,158,895 (GRCm39)	L32S	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Slc39a10	A	T	1: 46,865,375 (GRCm39)	S487T	probably benign	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Spag6	A	G	2: 18,737,925 (GRCm39)	D265G	probably benign	Het
Spata31e2	T	C	1: 26,724,950 (GRCm39)	T77A	probably benign	Het
Sybu	G	T	15: 44,582,228 (GRCm39)	S132*	probably null	Het
Virma	T	C	4: 11,528,776 (GRCm39)	S1288P	probably damaging	Het
Vmn1r229	T	A	17: 21,035,067 (GRCm39)	V104D	probably damaging	Het
Vmn1r238	T	C	18: 3,123,358 (GRCm39)	T19A	probably benign	Het
Vmn2r86	C	T	10: 130,289,010 (GRCm39)	V164I	probably benign	Het
Wfdc13	G	T	2: 164,528,854 (GRCm39)	A64S	probably damaging	Het
Zfp873	C	A	10: 81,896,113 (GRCm39)	H318Q	probably damaging	Het
Zyg11a	A	G	4: 108,040,843 (GRCm39)		probably null	Het

Other mutations in Or5b112

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02442:Or5b112	APN	19	13,319,484 (GRCm39)	missense	probably benign	0.13
IGL02568:Or5b112	APN	19	13,319,583 (GRCm39)	missense	probably benign	0.08
IGL03073:Or5b112	APN	19	13,319,386 (GRCm39)	missense	probably benign	0.00
R0943:Or5b112	UTSW	19	13,319,157 (GRCm39)	missense	probably benign	0.00
R1301:Or5b112	UTSW	19	13,319,211 (GRCm39)	missense	probably benign	0.05
R1355:Or5b112	UTSW	19	13,319,882 (GRCm39)	nonsense	probably null
R1524:Or5b112	UTSW	19	13,319,486 (GRCm39)	nonsense	probably null
R1993:Or5b112	UTSW	19	13,319,178 (GRCm39)	missense	possibly damaging	0.65
R2031:Or5b112	UTSW	19	13,319,770 (GRCm39)	missense	probably benign	0.18
R3693:Or5b112	UTSW	19	13,319,893 (GRCm39)	missense	possibly damaging	0.73
R3694:Or5b112	UTSW	19	13,319,893 (GRCm39)	missense	possibly damaging	0.73
R3853:Or5b112	UTSW	19	13,319,862 (GRCm39)	missense	possibly damaging	0.55
R5313:Or5b112	UTSW	19	13,319,429 (GRCm39)	missense	probably benign	0.07
R5467:Or5b112	UTSW	19	13,319,521 (GRCm39)	missense	probably damaging	1.00
R6060:Or5b112	UTSW	19	13,319,497 (GRCm39)	missense	probably benign	0.08
R7125:Or5b112	UTSW	19	13,319,103 (GRCm39)	critical splice acceptor site	probably null
R7591:Or5b112	UTSW	19	13,319,619 (GRCm39)	missense	probably benign	0.28
R9072:Or5b112	UTSW	19	13,319,238 (GRCm39)	missense	possibly damaging	0.80
R9073:Or5b112	UTSW	19	13,319,238 (GRCm39)	missense	possibly damaging	0.80
R9523:Or5b112	UTSW	19	13,319,848 (GRCm39)	missense	probably damaging	0.99
Z1177:Or5b112	UTSW	19	13,319,619 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TCTTCAGCGGTCACACCAAAAGTC -3'
(R):5'- CTGAACTCCTGCTTCTGAGTGCATC -3'

Sequencing Primer
(F):5'- GCAGCCTTTGCTACTGTTGA -3'
(R):5'- CTGGCTTGATAAATAAGTACCAGTTC -3'

Posted On

2014-04-24