Mutagenetix > Incidental Mutation

Incidental Mutation 'R8477:Or12k5'

657288

Institutional Source

Beutler Lab

Gene Symbol

Or12k5

Ensembl Gene

ENSMUSG00000075379

Gene Name

olfactory receptor family 12 subfamily K member 5

Synonyms

MOR159-4, GA_x6K02T2NLDC-33697309-33696317, Olfr358

MMRRC Submission

067921-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R8477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36894632-36895624 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36895060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 189 (T189A)

Ref Sequence

ENSEMBL: ENSMUSP00000150781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100146] [ENSMUST00000213218] [ENSMUST00000216437]

AlphaFold

Q7TRY5

Predicted Effect

probably benign
Transcript: ENSMUST00000100146
AA Change: T189A

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097724
Gene: ENSMUSG00000075379
AA Change: T189A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	6.4e-49	PFAM
Pfam:7TM_GPCR_Srsx	35	214	4.7e-7	PFAM
Pfam:7tm_1	41	289	2.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213218

Predicted Effect

probably benign
Transcript: ENSMUST00000216437
AA Change: T189A

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (60/61)

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
2610008E11Rik	G	A	10: 78,924,174 (GRCm39)	S94L	probably benign	Het
Ackr1	C	T	1: 173,159,755 (GRCm39)	G255R	probably damaging	Het
Aldh1l2	G	A	10: 83,337,785 (GRCm39)	T560I	probably damaging	Het
Arhgef25	A	T	10: 127,020,266 (GRCm39)	F384I	probably damaging	Het
Bptf	T	A	11: 106,943,679 (GRCm39)	Q2671L	probably damaging	Het
Ccdc159	A	G	9: 21,844,223 (GRCm39)	E95G	probably damaging	Het
Cenpf	A	T	1: 189,385,385 (GRCm39)	H2298Q	probably benign	Het
Chn2	G	T	6: 54,246,467 (GRCm39)		probably null	Het
Csnk1g1	T	C	9: 65,909,555 (GRCm39)	L224P	probably damaging	Het
Cyp2c54	T	A	19: 40,058,708 (GRCm39)	K241N	probably benign	Het
Cyp2c55	G	T	19: 38,999,485 (GRCm39)	V64L	probably damaging	Het
Dlgap1	A	C	17: 70,823,967 (GRCm39)	Q317H	probably damaging	Het
Dnaja3	A	G	16: 4,505,212 (GRCm39)	D108G	probably null	Het
Dpagt1	G	T	9: 44,243,390 (GRCm39)		probably null	Het
Dzip1	T	C	14: 119,138,958 (GRCm39)	R424G	possibly damaging	Het
Ero1b	A	G	13: 12,616,672 (GRCm39)	K367R	probably benign	Het
Evi2	T	C	11: 79,406,891 (GRCm39)	Y228C	probably benign	Het
Exosc10	A	T	4: 148,649,847 (GRCm39)	I426L	possibly damaging	Het
Gba2	C	T	4: 43,569,944 (GRCm39)	R423Q	probably damaging	Het
Gm19965	A	C	1: 116,730,854 (GRCm39)		probably benign	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Gvin2	T	C	7: 105,548,133 (GRCm39)	K1640E	possibly damaging	Het
Hc	A	T	2: 34,879,182 (GRCm39)	C1557S	probably damaging	Het
Hfm1	C	T	5: 107,029,684 (GRCm39)	S799N	probably benign	Het
Hibadh	A	T	6: 52,617,185 (GRCm39)	W17R	probably benign	Het
Hivep1	A	T	13: 42,337,696 (GRCm39)	T2592S	probably benign	Het
Ighv8-5	G	A	12: 115,031,200 (GRCm39)	T113I	probably benign	Het
Il2rb	A	T	15: 78,370,006 (GRCm39)	V211D	probably damaging	Het
Itgal	A	G	7: 126,900,105 (GRCm39)	Y121C	probably damaging	Het
Kirrel1	T	C	3: 86,992,138 (GRCm39)	T597A	possibly damaging	Het
Lats1	A	G	10: 7,581,279 (GRCm39)	E688G	probably damaging	Het
Lbr	C	T	1: 181,644,539 (GRCm39)	A589T	possibly damaging	Het
Limch1	G	A	5: 67,131,908 (GRCm39)	V133I	probably benign	Het
Mast2	C	T	4: 116,164,407 (GRCm39)	A1670T	probably benign	Het
Mtcl1	A	T	17: 66,684,942 (GRCm39)	L949Q	probably benign	Het
Nlrp4a	T	C	7: 26,159,219 (GRCm39)	V833A	probably benign	Het
Or8g28	A	T	9: 39,169,099 (GRCm39)	Y290N	probably damaging	Het
Osgep	C	A	14: 51,155,334 (GRCm39)	A75S	probably damaging	Het
Pank1	C	A	19: 34,856,055 (GRCm39)	R141L	probably benign	Het
Pcdhb20	T	A	18: 37,638,307 (GRCm39)	S278T	probably benign	Het
Pcdhgb8	C	A	18: 37,896,365 (GRCm39)	F478L	probably benign	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Polr2a	G	A	11: 69,626,312 (GRCm39)	P1613S	probably benign	Het
Pramel55	A	C	5: 95,949,567 (GRCm39)	M105L	probably benign	Het
Prom2	A	C	2: 127,381,124 (GRCm39)	S251A	probably benign	Het
R3hdm2	A	G	10: 127,320,029 (GRCm39)	H546R	probably damaging	Het
Reck	G	T	4: 43,891,011 (GRCm39)	V50L	probably benign	Het
Rerg	T	C	6: 137,033,184 (GRCm39)	T164A	probably benign	Het
Rho	T	A	6: 115,912,346 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,575,183 (GRCm39)	T959A	probably damaging	Het
Slc28a3	T	A	13: 58,724,609 (GRCm39)	N215I	possibly damaging	Het
Slc2a5	G	A	4: 150,210,119 (GRCm39)	V35I	probably benign	Het
Srpk2	A	T	5: 23,718,986 (GRCm39)	S610T	probably benign	Het
Tasor2	A	G	13: 3,625,079 (GRCm39)	F1624L	probably benign	Het
Tmem147	T	A	7: 30,427,656 (GRCm39)	M86L	probably benign	Het
Trhde	A	G	10: 114,636,622 (GRCm39)	V195A	probably benign	Het
Trio	T	C	15: 27,774,038 (GRCm39)	S112G	possibly damaging	Het
U2af2	T	C	7: 5,078,693 (GRCm39)	V424A	probably benign	Het
Vmn2r27	T	C	6: 124,201,200 (GRCm39)	I252M	probably benign	Het
Wasf2	A	G	4: 132,912,412 (GRCm39)	E88G	unknown	Het
Zfp37	A	G	4: 62,110,240 (GRCm39)	C275R	probably damaging	Het
Zfp532	A	T	18: 65,757,137 (GRCm39)	I357F	probably damaging	Het

Other mutations in Or12k5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Or12k5	APN	2	36,894,942 (GRCm39)	missense	probably benign	0.00
IGL01460:Or12k5	APN	2	36,894,648 (GRCm39)	missense	probably benign	0.06
IGL02066:Or12k5	APN	2	36,895,321 (GRCm39)	missense	probably damaging	1.00
R0081:Or12k5	UTSW	2	36,895,462 (GRCm39)	missense	probably damaging	1.00
R0129:Or12k5	UTSW	2	36,895,057 (GRCm39)	nonsense	probably null
R1441:Or12k5	UTSW	2	36,895,131 (GRCm39)	missense	possibly damaging	0.82
R1543:Or12k5	UTSW	2	36,895,139 (GRCm39)	missense	probably damaging	1.00
R1628:Or12k5	UTSW	2	36,894,738 (GRCm39)	missense	probably damaging	1.00
R1966:Or12k5	UTSW	2	36,894,960 (GRCm39)	missense	possibly damaging	0.49
R2338:Or12k5	UTSW	2	36,895,159 (GRCm39)	missense	probably damaging	1.00
R4826:Or12k5	UTSW	2	36,895,345 (GRCm39)	missense	probably damaging	0.99
R6271:Or12k5	UTSW	2	36,895,554 (GRCm39)	missense	probably damaging	1.00
R7359:Or12k5	UTSW	2	36,895,449 (GRCm39)	missense	probably damaging	1.00
R7487:Or12k5	UTSW	2	36,894,786 (GRCm39)	missense	probably damaging	0.98
R7957:Or12k5	UTSW	2	36,894,972 (GRCm39)	missense	probably benign
R8413:Or12k5	UTSW	2	36,895,402 (GRCm39)	missense	probably damaging	1.00
R8417:Or12k5	UTSW	2	36,894,658 (GRCm39)	missense	probably benign
R8427:Or12k5	UTSW	2	36,894,794 (GRCm39)	nonsense	probably null
R8871:Or12k5	UTSW	2	36,895,060 (GRCm39)	missense	probably benign	0.40
RF007:Or12k5	UTSW	2	36,895,186 (GRCm39)	missense	probably damaging	0.99
X0028:Or12k5	UTSW	2	36,895,611 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTACATGCGAATCACAGAACC -3'
(R):5'- GTTGCCATCTGTGACCCTTTAAG -3'

Sequencing Primer
(F):5'- TGCGAATCACAGAACCATACAGGAG -3'
(R):5'- GATACTCTGCTATTGTCAGCCATAG -3'

Posted On

2021-01-18