Mutagenetix > Incidental Mutation

Incidental Mutation 'R1873:Or5b12'

210990

Institutional Source

Beutler Lab

Gene Symbol

Or5b12

Ensembl Gene

ENSMUSG00000048456

Gene Name

olfactory receptor family 5 subfamily B member 12

Synonyms

GA_x6K02T2RE5P-3249780-3248836, MOR202-5, Olfr1448

MMRRC Submission

039895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R1873 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12896727-12897671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12896852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 274 (V274M)

Ref Sequence

ENSEMBL: ENSMUSP00000149296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054737] [ENSMUST00000213177] [ENSMUST00000213713] [ENSMUST00000216888]

AlphaFold

Q8VFX1

Predicted Effect

probably damaging
Transcript: ENSMUST00000054737
AA Change: V274M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055664
Gene: ENSMUSG00000048456
AA Change: V274M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	3.2e-54	PFAM
Pfam:7tm_1	39	288	1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208769

Predicted Effect

probably damaging
Transcript: ENSMUST00000213177
AA Change: V274M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213713
AA Change: V274M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216888
AA Change: V274M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.2298

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

Validation Efficiency

98% (82/84)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,870,781 (GRCm39)	I124L	probably benign	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Adam34	A	C	8: 44,104,843 (GRCm39)	N267K	probably benign	Het
Anxa5	T	C	3: 36,503,551 (GRCm39)	D301G	probably damaging	Het
Atf7ip	G	T	6: 136,536,886 (GRCm39)	D40Y	probably damaging	Het
Cacna2d2	T	G	9: 107,391,071 (GRCm39)	M400R	probably damaging	Het
Cd96	C	A	16: 45,938,335 (GRCm39)	L43F	probably damaging	Het
Cep120	T	C	18: 53,871,560 (GRCm39)	E104G	probably damaging	Het
Cfap221	T	C	1: 119,881,389 (GRCm39)	I358V	probably benign	Het
Cfhr4	C	T	1: 139,702,398 (GRCm39)	E29K	probably damaging	Het
Chil4	C	T	3: 106,113,414 (GRCm39)	E168K	probably benign	Het
Clca3a1	A	G	3: 144,452,590 (GRCm39)	V631A	probably damaging	Het
Cluh	C	T	11: 74,552,902 (GRCm39)	A649V	possibly damaging	Het
Commd9	A	G	2: 101,727,502 (GRCm39)	T99A	probably benign	Het
Csgalnact1	T	C	8: 68,854,036 (GRCm39)	N255S	probably benign	Het
Cyth3	T	A	5: 143,683,516 (GRCm39)	H138Q	possibly damaging	Het
Dnah7a	A	T	1: 53,495,691 (GRCm39)		probably benign	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Fyco1	A	G	9: 123,652,303 (GRCm39)	V1135A	probably benign	Het
Glcci1	C	A	6: 8,537,837 (GRCm39)	H152N	probably benign	Het
Gm10477	T	A	X: 55,570,127 (GRCm39)	F9Y	probably damaging	Het
Gnrhr	A	G	5: 86,330,060 (GRCm39)	L320P	probably damaging	Het
Gorasp1	A	T	9: 119,759,306 (GRCm39)	S138T	probably benign	Het
Hars1	C	A	18: 36,900,294 (GRCm39)	Q469H	probably damaging	Het
Homer2	T	C	7: 81,286,111 (GRCm39)	K34E	probably damaging	Het
Hscb	T	C	5: 110,978,823 (GRCm39)	I198V	probably benign	Het
Kat6b	T	C	14: 21,567,057 (GRCm39)	S39P	probably damaging	Het
Kcnk12	G	T	17: 88,053,499 (GRCm39)	Q388K	probably damaging	Het
Kcnq3	A	G	15: 65,874,104 (GRCm39)	I548T	probably benign	Het
Mark2	A	G	19: 7,261,880 (GRCm39)	Y351H	probably damaging	Het
Masp2	A	T	4: 148,698,952 (GRCm39)	I678F	probably damaging	Het
Mc4r	A	T	18: 66,992,531 (GRCm39)	I194N	probably damaging	Het
Ms4a6d	A	G	19: 11,579,223 (GRCm39)	S85P	probably damaging	Het
Myh4	T	A	11: 67,145,569 (GRCm39)	Y1351N	probably benign	Het
Myo16	A	G	8: 10,322,789 (GRCm39)	D73G	probably damaging	Het
Mzt1	C	T	14: 99,278,097 (GRCm39)		probably null	Het
Nalcn	G	A	14: 123,521,013 (GRCm39)	H1631Y	probably benign	Het
Ncf2	A	G	1: 152,701,661 (GRCm39)	N213S	probably benign	Het
Nf1	C	A	11: 79,437,987 (GRCm39)	T99K	probably damaging	Het
Nsf	T	C	11: 103,749,843 (GRCm39)	S547G	probably damaging	Het
Ntrk3	T	A	7: 78,112,587 (GRCm39)	I190F	probably benign	Het
Obsl1	T	C	1: 75,474,877 (GRCm39)	Y841C	probably damaging	Het
Ogdh	A	T	11: 6,290,438 (GRCm39)		probably benign	Het
Or2ag12	T	A	7: 106,277,691 (GRCm39)	M1L	probably damaging	Het
Otog	G	A	7: 45,918,767 (GRCm39)	V948I	probably damaging	Het
Plekhm1	T	C	11: 103,264,824 (GRCm39)	D880G	probably benign	Het
Pnliprp2	G	T	19: 58,751,821 (GRCm39)	V189L	probably benign	Het
Polg	A	G	7: 79,106,241 (GRCm39)	L678S	probably benign	Het
Ptprm	C	T	17: 66,995,350 (GRCm39)	V1293I	probably damaging	Het
Pwwp3a	T	A	10: 80,068,442 (GRCm39)	D195E	possibly damaging	Het
Rhou	A	T	8: 124,387,990 (GRCm39)	R241W	probably damaging	Het
Rtn4	A	T	11: 29,686,437 (GRCm39)	N264I	probably damaging	Het
Sez6l	T	C	5: 112,621,276 (GRCm39)		probably benign	Het
Sost	T	C	11: 101,855,069 (GRCm39)	E80G	probably damaging	Het
Spag16	C	T	1: 69,935,744 (GRCm39)		probably benign	Het
Speer4f2	A	T	5: 17,579,447 (GRCm39)	N82I	probably damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Taf1b	T	A	12: 24,606,668 (GRCm39)	L496Q	possibly damaging	Het
Tarbp1	A	G	8: 127,173,786 (GRCm39)	I976T	probably damaging	Het
Tex14	T	A	11: 87,390,431 (GRCm39)	V376D	probably damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tm9sf1	T	C	14: 55,873,680 (GRCm39)	D606G	probably damaging	Het
Tmc2	A	C	2: 130,090,676 (GRCm39)	N674T	possibly damaging	Het
Top3a	C	A	11: 60,638,810 (GRCm39)	E562*	probably null	Het
Umodl1	A	T	17: 31,201,238 (GRCm39)	D389V	probably damaging	Het
Uso1	T	C	5: 92,340,718 (GRCm39)		probably benign	Het
Vmn1r205	A	G	13: 22,776,223 (GRCm39)	V293A	possibly damaging	Het
Vmn2r107	A	G	17: 20,565,840 (GRCm39)	T52A	probably benign	Het
Vmn2r4	C	T	3: 64,298,479 (GRCm39)	V461I	possibly damaging	Het
Vmn2r99	A	T	17: 19,582,415 (GRCm39)	I7F	probably benign	Het
Vps11	A	G	9: 44,271,233 (GRCm39)	F80S	probably damaging	Het
Wdr43	A	G	17: 71,940,647 (GRCm39)	S258G	probably benign	Het
Zbtb24	A	G	10: 41,327,123 (GRCm39)	D3G	probably benign	Het
Zc3hav1	C	T	6: 38,309,692 (GRCm39)	V377I	possibly damaging	Het
Zfp668	T	C	7: 127,465,654 (GRCm39)		probably null	Het

Other mutations in Or5b12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Or5b12	APN	19	12,897,490 (GRCm39)	missense	probably damaging	1.00
IGL01730:Or5b12	APN	19	12,896,926 (GRCm39)	missense	probably damaging	1.00
IGL01901:Or5b12	APN	19	12,896,947 (GRCm39)	missense	probably damaging	0.98
IGL02055:Or5b12	APN	19	12,896,930 (GRCm39)	missense	possibly damaging	0.78
R0152:Or5b12	UTSW	19	12,897,472 (GRCm39)	missense	possibly damaging	0.49
R0311:Or5b12	UTSW	19	12,897,460 (GRCm39)	missense	possibly damaging	0.91
R0349:Or5b12	UTSW	19	12,897,299 (GRCm39)	missense	probably damaging	1.00
R2371:Or5b12	UTSW	19	12,897,031 (GRCm39)	missense	probably benign	0.02
R3548:Or5b12	UTSW	19	12,897,031 (GRCm39)	missense	probably benign	0.02
R4697:Or5b12	UTSW	19	12,897,298 (GRCm39)	missense	probably damaging	0.99
R5482:Or5b12	UTSW	19	12,897,269 (GRCm39)	missense	probably damaging	0.96
R5748:Or5b12	UTSW	19	12,897,379 (GRCm39)	missense	probably damaging	1.00
R5749:Or5b12	UTSW	19	12,897,589 (GRCm39)	missense	probably benign	0.02
R5795:Or5b12	UTSW	19	12,897,188 (GRCm39)	missense	possibly damaging	0.95
R5952:Or5b12	UTSW	19	12,897,194 (GRCm39)	missense	probably benign	0.00
R6228:Or5b12	UTSW	19	12,897,301 (GRCm39)	missense	probably damaging	1.00
R6273:Or5b12	UTSW	19	12,896,764 (GRCm39)	missense	probably benign	0.02
R6341:Or5b12	UTSW	19	12,896,843 (GRCm39)	missense	probably benign	0.29
R6343:Or5b12	UTSW	19	12,896,946 (GRCm39)	missense	probably damaging	1.00
R6454:Or5b12	UTSW	19	12,897,395 (GRCm39)	missense	probably benign	0.10
R7666:Or5b12	UTSW	19	12,897,526 (GRCm39)	missense	probably damaging	0.99
R7810:Or5b12	UTSW	19	12,897,229 (GRCm39)	missense	probably benign	0.01
R7859:Or5b12	UTSW	19	12,897,346 (GRCm39)	missense	probably damaging	1.00
R7869:Or5b12	UTSW	19	12,896,911 (GRCm39)	missense	probably benign	0.26
R8518:Or5b12	UTSW	19	12,896,959 (GRCm39)	missense	probably damaging	0.99
R9011:Or5b12	UTSW	19	12,897,479 (GRCm39)	missense	probably damaging	1.00
R9043:Or5b12	UTSW	19	12,897,667 (GRCm39)	missense	probably benign	0.12
R9162:Or5b12	UTSW	19	12,897,024 (GRCm39)	nonsense	probably null
R9273:Or5b12	UTSW	19	12,897,446 (GRCm39)	missense	possibly damaging	0.64
R9279:Or5b12	UTSW	19	12,897,309 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAACTCTATGGGATGGTTAGCC -3'
(R):5'- TGTAGTCATTACGATCTCCTATCTG -3'

Sequencing Primer
(F):5'- GCAGATTTTGCATTTCCTAC -3'
(R):5'- TGCTTATTTTCATCACTATTCTGAGG -3'

Posted On

2014-06-30