Mutagenetix > Incidental Mutation

Incidental Mutation 'R6341:Or5b12'

514426

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

044495-MU

Accession Numbers

Essential gene?

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

Stock #

R6341 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12896727-12897671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12896843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 277 (T277A)

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: T277A

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000055664
Gene: ENSMUSG00000048456
AA Change: T277A

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: T277A

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000213713
AA Change: T277A

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000216888
AA Change: T277A

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,924,364 (GRCm39)	D658G	possibly damaging	Het
Amz2	A	G	11: 109,319,653 (GRCm39)	H13R	probably benign	Het
Ankrd27	G	T	7: 35,326,828 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,840,270 (GRCm39)	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,494,573 (GRCm39)	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,465,978 (GRCm39)	S105P	probably damaging	Het
Cdh26	T	A	2: 178,113,366 (GRCm39)		probably null	Het
Cxcl10	T	C	5: 92,496,072 (GRCm39)	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,700,933 (GRCm39)	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,115,551 (GRCm39)	D594E	probably benign	Het
Ddx5	T	C	11: 106,676,368 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,168,202 (GRCm39)	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,788,204 (GRCm39)		probably null	Het
Ecel1	A	G	1: 87,078,193 (GRCm39)		probably null	Het
Efcab6	T	G	15: 83,820,139 (GRCm39)	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,754,959 (GRCm39)	L464P	possibly damaging	Het
Fam234a	T	A	17: 26,432,667 (GRCm39)	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,065,127 (GRCm39)	V694A	probably damaging	Het
Gli2	T	C	1: 118,763,954 (GRCm39)	D1399G	probably damaging	Het
Gm10110	T	C	14: 90,134,144 (GRCm39)		noncoding transcript	Het
Hdac3	A	G	18: 38,077,217 (GRCm39)	L219P	probably damaging	Het
Hlcs	A	G	16: 94,032,022 (GRCm39)	F52S	probably damaging	Het
Ints7	C	A	1: 191,345,239 (GRCm39)	T643K	probably damaging	Het
Ireb2	A	G	9: 54,816,064 (GRCm39)	I878M	probably damaging	Het
Itga3	A	T	11: 94,946,677 (GRCm39)		probably null	Het
Lrfn5	T	A	12: 61,890,368 (GRCm39)	Y552*	probably null	Het
Mafb	T	C	2: 160,208,371 (GRCm39)	T76A	probably damaging	Het
Man2b1	A	T	8: 85,822,028 (GRCm39)	S748C	probably damaging	Het
Mmp15	G	T	8: 96,092,091 (GRCm39)		probably null	Het
Mmp17	A	T	5: 129,679,019 (GRCm39)	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,355,229 (GRCm39)	D1005V	probably damaging	Het
Myh3	T	C	11: 66,973,822 (GRCm39)	F165S	probably benign	Het
Nacc1	T	C	8: 85,401,420 (GRCm39)	D419G	probably benign	Het
Neb	G	A	2: 52,099,486 (GRCm39)	S4545L	probably damaging	Het
Niban3	C	T	8: 72,052,721 (GRCm39)	P65L	probably damaging	Het
Npas2	T	C	1: 39,339,768 (GRCm39)	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Pde4dip	T	A	3: 97,602,227 (GRCm39)	Q2283L	probably benign	Het
Phax	C	T	18: 56,706,173 (GRCm39)	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,152,829 (GRCm39)	K79*	probably null	Het
Pkd1	T	A	17: 24,799,201 (GRCm39)	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,190,572 (GRCm39)	R427C	probably damaging	Het
Ptprj	A	T	2: 90,288,693 (GRCm39)	F757L	probably benign	Het
Rad1	A	G	15: 10,492,907 (GRCm39)	D208G	probably damaging	Het
Rangrf	T	A	11: 68,863,538 (GRCm39)	N156I	probably benign	Het
Rasl11b	T	C	5: 74,359,037 (GRCm39)	S181P	probably damaging	Het
Rigi	T	A	4: 40,222,199 (GRCm39)		probably null	Het
Rlf	G	A	4: 121,006,557 (GRCm39)	Q808*	probably null	Het
Rogdi	G	T	16: 4,831,241 (GRCm39)		probably null	Het
Sec24a	A	T	11: 51,608,603 (GRCm39)	V573D	probably damaging	Het
Sorbs2	A	G	8: 46,223,615 (GRCm39)	T200A	probably damaging	Het
Srgap2	C	T	1: 131,219,367 (GRCm39)	R259H	probably benign	Het
Ssc5d	T	A	7: 4,939,664 (GRCm39)	V700E	probably benign	Het
Stt3a	A	T	9: 36,662,592 (GRCm39)	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,574,193 (GRCm39)	D6E	possibly damaging	Het
Tdrd12	C	T	7: 35,189,473 (GRCm39)	R421H	probably damaging	Het
Top3b	T	C	16: 16,696,935 (GRCm39)	M62T	probably damaging	Het
Trhr	T	G	15: 44,092,694 (GRCm39)	Y310*	probably null	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Usp34	A	G	11: 23,331,353 (GRCm39)	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,448,995 (GRCm39)	M290K	probably benign	Het
Wdr75	T	C	1: 45,841,291 (GRCm39)		probably null	Het
Wnk1	A	T	6: 119,925,546 (GRCm39)	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,741,001 (GRCm39)	T191A	probably benign	Het
Zc3h15	A	G	2: 83,491,567 (GRCm39)	E265G	probably benign	Het
Zcchc9	A	G	13: 91,948,816 (GRCm39)	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,738,337 (GRCm39)	H247R	probably damaging	Het
Zfp433	A	G	10: 81,555,957 (GRCm39)	E152G	probably damaging	Het
Zfp770	A	T	2: 114,027,240 (GRCm39)	S276R	probably benign	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
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'- TACAACTCTATGGGATGGTTAGC -3'
(R):5'- TGTAGTCATTACGATCTCCTATCTG -3'

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

Posted On

2018-04-27