Mutagenetix > Incidental Mutation

Incidental Mutation 'RF016:Or6d12'

603542

Institutional Source

Beutler Lab

Gene Symbol

Or6d12

Ensembl Gene

ENSMUSG00000053251

Gene Name

olfactory receptor family 6 subfamily D member 12

Synonyms

Olfr212, GA_x54KRFPKN04-58149882-58150865, 4931403F16Rik, MOR119-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

RF016 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116483477-116494926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 116493004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 89 (A89S)

Ref Sequence

ENSEMBL: ENSMUSP00000075164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075756] [ENSMUST00000218028] [ENSMUST00000220134]

AlphaFold

Q7TS33

Predicted Effect

probably benign
Transcript: ENSMUST00000075756
AA Change: A89S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000075164
Gene: ENSMUSG00000053251
AA Change: A89S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	9.3e-44	PFAM
Pfam:7tm_1	47	296	2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218028
AA Change: A89S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000220134
AA Change: A89S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TGCTGTGGC	TGCTGTGGCGGCTGTGGC	1: 82,891,298 (GRCm39)		probably benign	Het
Abi3bp	GCCCACGACCC	GCCCACGACCCACGACCC	16: 56,447,950 (GRCm39)		probably null	Het
Amer3	A	G	1: 34,626,201 (GRCm39)	I147V	probably damaging	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,962 (GRCm39)		probably benign	Het
Ankhd1	GCGGCG	GCGGCGACGGCG	18: 36,693,963 (GRCm39)		probably benign	Het
Ankzf1	G	A	1: 75,172,477 (GRCm39)	R259H	probably damaging	Het
Apol9b	T	C	15: 77,619,714 (GRCm39)	V170A	probably benign	Het
Asb3	A	G	11: 31,011,407 (GRCm39)	I267M	possibly damaging	Het
Baz2a	A	G	10: 127,961,185 (GRCm39)	E1636G	probably benign	Het
Birc6	G	T	17: 74,996,319 (GRCm39)	V4513F	probably damaging	Het
Blm	CCTCCTCC	CCTCCTCCTCCTACTCCTCC	7: 80,162,674 (GRCm39)		probably null	Het
Ccdc113	G	A	8: 96,264,733 (GRCm39)	R81H	probably benign	Het
Ccdc27	T	C	4: 154,120,567 (GRCm39)	R410G	probably benign	Het
Cdhr5	A	G	7: 140,852,097 (GRCm39)	V435A	possibly damaging	Het
Cercam	T	C	2: 29,759,317 (GRCm39)	S15P	unknown	Het
Cntrl	T	C	2: 35,009,998 (GRCm39)	V224A	probably benign	Het
Comtd1	T	A	14: 21,898,664 (GRCm39)	Q56L	probably benign	Het
Cul9	CCT	CCTACT	17: 46,811,789 (GRCm39)		probably null	Het
Cyb5r4	AGGGA	AGGGATGGGACAGACCCACTGCCCCGGGA	9: 86,922,497 (GRCm39)		probably benign	Het
Cyb5r4	TGTGACAGACACACTGCCCAGGGA	TGTGACAGACACACTGCCCAGGGACGTGACAGACACACTGCCCAGGGA	9: 86,922,478 (GRCm39)		probably benign	Het
Cyb5r4	CCCAGGGA	CCCAGGGATGTGACAGACACACTGACCAGGGA	9: 86,922,494 (GRCm39)		probably benign	Het
Cyld	T	A	8: 89,432,069 (GRCm39)	Y22*	probably null	Het
Dbt	T	C	3: 116,333,363 (GRCm39)	Y278H	probably damaging	Het
Ddb1	A	G	19: 10,605,222 (GRCm39)	H1070R	probably damaging	Het
Dek	G	T	13: 47,251,662 (GRCm39)	S248*	probably null	Het
Dixdc1	T	C	9: 50,604,941 (GRCm39)	T300A	probably benign	Het
Dusp8	A	T	7: 141,636,589 (GRCm39)	S334T	probably benign	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,602,067 (GRCm39)		probably benign	Het
Ehbp1	T	C	11: 22,096,646 (GRCm39)	N306S	probably benign	Het
Fcer1a	T	C	1: 173,053,086 (GRCm39)	I37V	possibly damaging	Het
Fgfr2	G	T	7: 129,779,410 (GRCm39)	Q639K	probably benign	Het
Ftdc1	T	A	16: 58,437,230 (GRCm39)	N26I	probably damaging	Het
Gab3	CTT	CTTATT	X: 74,043,591 (GRCm39)		probably null	Het
Gins4	T	C	8: 23,722,626 (GRCm39)	M98V	probably benign	Het
Gm8369	GTGTGTGT	GTGTGTGTTTGTGTGT	19: 11,489,118 (GRCm39)		probably null	Het
Grik1	G	A	16: 87,831,074 (GRCm39)	S232L		Het
Gsg1l	A	G	7: 125,619,794 (GRCm39)		probably null	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
H2-DMb1	A	T	17: 34,376,360 (GRCm39)	S160C	probably damaging	Het
Hsdl2	GCAGCCACAGCTGCAG	GCAGCCACAGCTGCAGCATCAGCCACAGCTGCAG	4: 59,610,643 (GRCm39)		probably benign	Het
Iqcf4	TTTCCTTTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTGTTCCTTTTCCTTTT	9: 106,447,808 (GRCm39)		probably benign	Het
Jag1	T	A	2: 136,938,176 (GRCm39)	T275S	probably benign	Het
Klhdc2	T	A	12: 69,350,660 (GRCm39)	I158K	probably damaging	Het
Krtap28-10	TCCC	TCCCGCACCC	1: 83,019,844 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,339,549 (GRCm39)	M1121L	probably benign	Het
M6pr	C	T	6: 122,292,124 (GRCm39)	A152V	probably damaging	Het
Mapkapk5	T	C	5: 121,671,379 (GRCm39)	Y218C	probably damaging	Het
Mkrn1	C	T	6: 39,396,925 (GRCm39)	V26I		Het
Mro	CA	CAAACTCGGA	18: 74,003,035 (GRCm39)		probably null	Het
Mrpl3	T	C	9: 104,952,452 (GRCm39)	V303A	probably benign	Het
Nefh	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,022 (GRCm39)		probably benign	Het
Nefh	TCACCTGGGGACT	TCACCTGGGGACTCGGCCCCACCTGGGGACT	11: 4,891,023 (GRCm39)		probably benign	Het
Nid2	GGCTAACACCGC	GGC	14: 19,801,431 (GRCm39)		probably benign	Het
Nusap1	CAAGCTGAGA	CAAGCTGAGATACACGTTAGCAGTGAGGAGAAAGCTGAGA	2: 119,458,082 (GRCm39)		probably benign	Het
Or10n7-ps1	A	ATAGG	9: 39,598,050 (GRCm39)		probably null	Het
Ovol1	A	G	19: 5,603,640 (GRCm39)	V87A	probably benign	Het
Pdpk1	T	A	17: 24,312,255 (GRCm39)	E290D	probably benign	Het
Pkd1l3	T	A	8: 110,350,174 (GRCm39)	S340T	probably benign	Het
Pknox2	ACACACACACACACACTCAC	ACAC	9: 36,820,905 (GRCm39)		probably benign	Het
Pou3f1	GC	GCGGCGCC	4: 124,551,602 (GRCm39)		probably benign	Het
Prp2	AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGAGACCCCCTCAAGGCCCACCACC	6: 132,577,475 (GRCm39)		probably benign	Het
Prpf6	A	G	2: 181,273,869 (GRCm39)	M338V	probably benign	Het
Psg28	G	T	7: 18,156,847 (GRCm39)	L463I	probably damaging	Het
Ptprd	T	C	4: 76,046,892 (GRCm39)	D211G	probably benign	Het
Pus1	T	C	5: 110,924,424 (GRCm39)	H160R	not run	Het
Ranbp17	T	C	11: 33,279,511 (GRCm39)	T582A	probably damaging	Het
Rasa1	G	A	13: 85,371,607 (GRCm39)	T878I	possibly damaging	Het
Rbm20	A	G	19: 53,802,163 (GRCm39)	T224A	probably benign	Het
Scgb1b12	A	T	7: 32,033,920 (GRCm39)	N60I	probably damaging	Het
Sh3bp4	T	C	1: 89,072,744 (GRCm39)	S531P	probably benign	Het
Sh3pxd2b	TGCCTG	TGCCTGCGCCTG	11: 32,373,053 (GRCm39)		probably benign	Het
Snrnp200	T	C	2: 127,072,476 (GRCm39)	L1291P	probably damaging	Het
Spmap2l	CTCCCCAGTCCCGCAAGGCCAG	CTCCCCAGTCCCGCAAGGCCAGCGATCATCCCCAGTCCCGCAAGGCCAG	5: 77,164,255 (GRCm39)		probably benign	Het
Sppl2a	C	T	2: 126,769,694 (GRCm39)	R54Q	probably benign	Het
Sulf2	A	T	2: 165,924,523 (GRCm39)	L521Q	probably benign	Het
Supv3l1	C	A	10: 62,273,287 (GRCm39)	V317F	possibly damaging	Het
Tcof1	TCC	TCCACTTGGCTGCTGAGATGGGCACTTTCCCAGAGACCC	18: 60,966,647 (GRCm39)		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,138 (GRCm39)		probably benign	Het
Unc13b	CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CAGAGCCAGAGCCAGAGCGAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,347 (GRCm39)		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	AGCCAGAGCCAGAGCCAGCGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,350 (GRCm39)		probably benign	Het
Usp38	A	G	8: 81,740,522 (GRCm39)	S182P	probably benign	Het
Vmn2r24	T	C	6: 123,781,174 (GRCm39)	V460A	probably benign	Het
Wdr97	A	T	15: 76,240,172 (GRCm39)	I331F		Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,899,745 (GRCm39)		probably benign	Het

Other mutations in Or6d12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1477:Or6d12	UTSW	6	116,493,626 (GRCm39)	missense	probably damaging	1.00
R1912:Or6d12	UTSW	6	116,492,950 (GRCm39)	missense	probably benign	0.00
R4035:Or6d12	UTSW	6	116,493,590 (GRCm39)	missense	possibly damaging	0.94
R4654:Or6d12	UTSW	6	116,493,409 (GRCm39)	missense	probably damaging	1.00
R5284:Or6d12	UTSW	6	116,493,513 (GRCm39)	nonsense	probably null
R5772:Or6d12	UTSW	6	116,492,912 (GRCm39)	missense	possibly damaging	0.70
R6882:Or6d12	UTSW	6	116,493,395 (GRCm39)	missense	probably benign	0.00
R6944:Or6d12	UTSW	6	116,492,791 (GRCm39)	missense	possibly damaging	0.95
R7078:Or6d12	UTSW	6	116,493,632 (GRCm39)	missense	probably damaging	1.00
R7099:Or6d12	UTSW	6	116,493,721 (GRCm39)	makesense	probably null
R7205:Or6d12	UTSW	6	116,492,936 (GRCm39)	missense	probably damaging	1.00
R7556:Or6d12	UTSW	6	116,493,697 (GRCm39)	nonsense	probably null
R8155:Or6d12	UTSW	6	116,492,813 (GRCm39)	missense	probably benign	0.16
R8530:Or6d12	UTSW	6	116,493,530 (GRCm39)	missense	probably damaging	1.00
R9158:Or6d12	UTSW	6	116,492,791 (GRCm39)	missense	possibly damaging	0.95
R9205:Or6d12	UTSW	6	116,493,315 (GRCm39)	missense	probably benign	0.00
R9244:Or6d12	UTSW	6	116,492,782 (GRCm39)	missense	probably benign	0.03
R9425:Or6d12	UTSW	6	116,493,574 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CATGGGTCCAGGAGTTTGTC -3'
(R):5'- ACATCCTTGGGCTCATGATGG -3'

Sequencing Primer
(F):5'- GAGCACCTGAGGATCCTCTTC -3'
(R):5'- CTCATGATGGTTGGATAATGTAGAG -3'

Posted On

2019-12-04