Mutagenetix > Incidental Mutation

Incidental Mutation 'R6454:Or5b12'

519511

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

044590-MU

Accession Numbers

Essential gene?

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

Stock #

R6454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12896727-12897671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12897395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 93 (N93Y)

Ref Sequence

ENSEMBL: ENSMUSP00000149296 (fasta)

Gene Model

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

AlphaFold

Q8VFX1

Predicted Effect

probably benign
Transcript: ENSMUST00000054737
AA Change: N93Y

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000055664
Gene: ENSMUSG00000048456
AA Change: N93Y

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

probably benign
Transcript: ENSMUST00000213177
AA Change: N93Y

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000213713
AA Change: N93Y

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000216888
AA Change: N93Y

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.1433

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	G	T	8: 44,079,845 (GRCm39)	N126K	probably damaging	Het
Arid2	C	T	15: 96,270,294 (GRCm39)	T1469I	probably benign	Het
Atp12a	A	G	14: 56,608,290 (GRCm39)	T93A	probably benign	Het
Atp8a2	A	T	14: 60,245,948 (GRCm39)		probably null	Het
Casz1	A	T	4: 149,035,952 (GRCm39)	I1405F	probably damaging	Het
Chrnb3	T	C	8: 27,883,403 (GRCm39)	S100P	probably damaging	Het
Creld2	T	A	15: 88,707,274 (GRCm39)	C197*	probably null	Het
Csmd1	A	T	8: 15,971,150 (GRCm39)	F3055Y	probably damaging	Het
Dnah11	T	A	12: 117,880,590 (GRCm39)	E3843D	probably benign	Het
Dnah14	T	C	1: 181,611,270 (GRCm39)	S3799P	probably damaging	Het
Dpp9	A	T	17: 56,513,808 (GRCm39)	L102Q	probably damaging	Het
Eipr1	T	G	12: 28,914,761 (GRCm39)	I305S	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Faf1	G	T	4: 109,699,531 (GRCm39)	A359S	probably benign	Het
Fam13b	A	G	18: 34,590,715 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,638,015 (GRCm39)	N363I	probably damaging	Het
Grm8	T	G	6: 27,363,775 (GRCm39)	H580P	possibly damaging	Het
Itih5	T	C	2: 10,245,479 (GRCm39)	F523L	probably benign	Het
Klhl1	A	T	14: 96,517,527 (GRCm39)	M383K	possibly damaging	Het
Lgi4	A	T	7: 30,759,557 (GRCm39)	T38S	probably benign	Het
Myh13	T	A	11: 67,241,191 (GRCm39)	M856K	probably benign	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Nlrp9c	G	A	7: 26,085,199 (GRCm39)	R127C	possibly damaging	Het
Notch2	T	C	3: 98,044,722 (GRCm39)	I1548T	possibly damaging	Het
Nphs2	T	A	1: 156,146,337 (GRCm39)	H179Q	probably damaging	Het
Nup153	T	C	13: 46,863,136 (GRCm39)		probably null	Het
Nup50l	T	G	6: 96,142,609 (GRCm39)	H145P	possibly damaging	Het
Odf2l	C	A	3: 144,859,181 (GRCm39)	Q517K	possibly damaging	Het
Omd	A	T	13: 49,743,345 (GRCm39)	I132F	probably damaging	Het
Or10d1b	A	G	9: 39,613,130 (GRCm39)	*312Q	probably null	Het
Or4a81	T	C	2: 89,619,522 (GRCm39)	Y58C	probably damaging	Het
Or9g19	A	G	2: 85,600,717 (GRCm39)	K191E	probably benign	Het
Otog	A	G	7: 45,955,241 (GRCm39)	N544D	probably damaging	Het
Ovol3	A	G	7: 29,934,800 (GRCm39)	Y29H	probably damaging	Het
Papolb	T	C	5: 142,515,353 (GRCm39)	K97E	possibly damaging	Het
Pcdhb19	G	T	18: 37,632,322 (GRCm39)	V706L	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plekhm1	G	A	11: 103,268,208 (GRCm39)	R588C	probably damaging	Het
Pnpla6	G	T	8: 3,587,986 (GRCm39)	V1062L	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,827 (GRCm39)	F127L	probably damaging	Het
Rigi	T	A	4: 40,220,456 (GRCm39)	I476F	probably damaging	Het
Rnf5	A	C	17: 34,821,283 (GRCm39)	C47W	probably damaging	Het
Sbno1	A	T	5: 124,538,910 (GRCm39)	M517K	probably damaging	Het
Slc44a5	C	T	3: 153,948,796 (GRCm39)	T188M	probably benign	Het
Smco1	A	G	16: 32,092,041 (GRCm39)	T40A	possibly damaging	Het
Speer4f2	A	T	5: 17,579,431 (GRCm39)	I77F	probably damaging	Het
Spem2	A	G	11: 69,708,254 (GRCm39)	L237P	probably damaging	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Tent5b	A	G	4: 133,207,720 (GRCm39)	D37G	probably damaging	Het
Tiam2	A	T	17: 3,488,938 (GRCm39)	T749S	probably benign	Het
Tln1	T	C	4: 43,533,866 (GRCm39)	K2291E	probably damaging	Het
Tm6sf1	A	G	7: 81,525,801 (GRCm39)	M294V	probably damaging	Het
Tmem35b	T	C	4: 127,022,811 (GRCm39)	*138R	probably null	Het
Tpst1	A	G	5: 130,130,892 (GRCm39)	K121E	possibly damaging	Het
Tsc22d2	T	A	3: 58,323,261 (GRCm39)	V51D	possibly damaging	Het
Tshr	C	A	12: 91,505,323 (GRCm39)	Q754K	probably benign	Het
Ttc38	T	A	15: 85,723,023 (GRCm39)	M157K	probably damaging	Het
Ube2g2	T	G	10: 77,470,580 (GRCm39)		probably benign	Het
Ugt2b37	T	G	5: 87,388,836 (GRCm39)	D459A	probably damaging	Het
Usp35	A	T	7: 96,960,851 (GRCm39)	Y858*	probably null	Het
Usp35	A	T	7: 96,960,767 (GRCm39)	N886K	probably damaging	Het
Wdr33	T	C	18: 31,963,028 (GRCm39)	V125A	possibly damaging	Het
Xpnpep1	G	A	19: 52,986,310 (GRCm39)	T506I	possibly damaging	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
R1873:Or5b12	UTSW	19	12,896,852 (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
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'- TTCAGGAAGCCACAGACATAGG -3'
(R):5'- AGCTCCAGATACCACTCTTCATTG -3'

Sequencing Primer
(F):5'- TAGGAACCTATGGTCAGACAAGCAC -3'
(R):5'- TCATCTATCTCAGCACTGTGC -3'

Posted On

2018-05-24