Mutagenetix > Incidental Mutation

Incidental Mutation 'R9425:Or6d12'

712565

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

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9425 (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 A at 116493574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 279 (E279K)

Ref Sequence

ENSEMBL: ENSMUSP00000075164 (fasta)

Gene Model

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

AlphaFold

Q7TS33

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075756
AA Change: E279K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075164
Gene: ENSMUSG00000053251
AA Change: E279K

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

possibly damaging
Transcript: ENSMUST00000218028
AA Change: E279K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220134
AA Change: E279K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	C	3: 121,926,344 (GRCm39)	S1260T	probably damaging	Het
Adgra2	A	G	8: 27,576,094 (GRCm39)	I41V	probably benign	Het
Adgrf1	A	G	17: 43,621,274 (GRCm39)	I504V	possibly damaging	Het
Agtrap	A	G	4: 148,165,019 (GRCm39)	I136T	probably damaging	Het
Arhgef7	C	T	8: 11,867,736 (GRCm39)	T601I	probably damaging	Het
Asb7	T	C	7: 66,328,987 (GRCm39)	I18V	possibly damaging	Het
C1rl	T	C	6: 124,485,322 (GRCm39)	V231A	probably benign	Het
Cachd1	A	T	4: 100,832,057 (GRCm39)	T740S	probably benign	Het
Ccdc146	T	A	5: 21,508,135 (GRCm39)	I638F	probably damaging	Het
Ccser2	T	C	14: 36,601,163 (GRCm39)	N407S	probably benign	Het
Clec7a	G	A	6: 129,442,514 (GRCm39)	S126L	probably damaging	Het
Copb1	C	T	7: 113,848,182 (GRCm39)	G118R	probably damaging	Het
Cpne3	A	T	4: 19,525,148 (GRCm39)	M449K	probably damaging	Het
Cttnbp2	A	T	6: 18,423,880 (GRCm39)	C815S	probably damaging	Het
Cyp27b1	T	C	10: 126,886,006 (GRCm39)	L253P	probably damaging	Het
Cyp3a44	C	A	5: 145,740,548 (GRCm39)	G31*	probably null	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Dmgdh	A	T	13: 93,880,813 (GRCm39)	I748L	probably benign	Het
Drc1	T	A	5: 30,502,938 (GRCm39)	W154R	probably benign	Het
E330034G19Rik	T	A	14: 24,358,387 (GRCm39)		probably null	Het
Gbp7	T	A	3: 142,248,718 (GRCm39)	V327E	probably damaging	Het
Gm11564	G	A	11: 99,706,065 (GRCm39)	P122S	unknown	Het
Grid2ip	C	A	5: 143,367,435 (GRCm39)	S615R		Het
Kcp	T	A	6: 29,489,151 (GRCm39)	Q1045L	probably benign	Het
Lgals3bp	T	A	11: 118,284,751 (GRCm39)	E276V	probably damaging	Het
Lrit1	T	C	14: 36,784,208 (GRCm39)	V512A	possibly damaging	Het
Mecom	T	A	3: 30,039,597 (GRCm39)	H154L	probably benign	Het
Mmp14	C	A	14: 54,677,804 (GRCm39)	T475K	probably damaging	Het
Mmp1a	T	G	9: 7,476,210 (GRCm39)	F436V	probably damaging	Het
Notch4	A	G	17: 34,795,801 (GRCm39)	S830G	probably benign	Het
Oas1b	T	C	5: 120,955,693 (GRCm39)	L158P	probably benign	Het
Odf4	A	G	11: 68,813,810 (GRCm39)	V126A	probably benign	Het
Olfml2a	A	G	2: 38,847,721 (GRCm39)	T427A	probably damaging	Het
Or2b28	A	G	13: 21,531,473 (GRCm39)	Y125C	probably damaging	Het
Or4c102	C	A	2: 88,422,877 (GRCm39)	T243K	probably damaging	Het
Or5b121	C	T	19: 13,507,222 (GRCm39)	L106F	probably damaging	Het
Or8b42	A	G	9: 38,342,286 (GRCm39)	K236R	possibly damaging	Het
Panx3	G	A	9: 37,572,393 (GRCm39)	H386Y	probably benign	Het
Papss1	C	A	3: 131,270,708 (GRCm39)	C8*	probably null	Het
Papss2	G	T	19: 32,615,750 (GRCm39)	V161L	possibly damaging	Het
Pcdh18	G	T	3: 49,709,051 (GRCm39)	H755N	possibly damaging	Het
Pilrb2	G	C	5: 137,866,964 (GRCm39)	H180D	probably benign	Het
Pla2g4f	T	C	2: 120,133,264 (GRCm39)	D645G	possibly damaging	Het
Pnlip	A	T	19: 58,669,290 (GRCm39)	K430*	probably null	Het
Ralbp1	C	A	17: 66,171,506 (GRCm39)	A156S	possibly damaging	Het
Rnf4	C	T	5: 34,508,641 (GRCm39)	R168C	probably benign	Het
Slc17a5	C	T	9: 78,484,457 (GRCm39)	G127E	probably damaging	Het
Slc22a27	A	T	19: 7,874,156 (GRCm39)	N306K	probably damaging	Het
Slc5a9	G	A	4: 111,734,803 (GRCm39)	R664C	probably damaging	Het
Slco1b2	T	A	6: 141,603,249 (GRCm39)	I210K	possibly damaging	Het
Snx16	C	T	3: 10,499,520 (GRCm39)	R170H	probably damaging	Het
Speer4e1	T	C	5: 14,987,136 (GRCm39)	I90V	possibly damaging	Het
Stxbp5l	T	C	16: 36,994,706 (GRCm39)	D733G	possibly damaging	Het
Tbc1d24	A	G	17: 24,404,382 (GRCm39)	V254A	probably benign	Het
Tmf1	A	G	6: 97,149,293 (GRCm39)	F485L	probably benign	Het
Tnks	G	A	8: 35,340,819 (GRCm39)	L396F	probably damaging	Het
Trabd	T	C	15: 88,969,496 (GRCm39)	C230R	probably damaging	Het
Trp53rkb	C	T	2: 166,637,542 (GRCm39)	A166V	probably benign	Het
Upf1	A	T	8: 70,792,003 (GRCm39)	D418E	probably benign	Het
Ust	A	C	10: 8,205,873 (GRCm39)	S137A	probably damaging	Het
Zfp513	T	A	5: 31,357,695 (GRCm39)	H228L	possibly damaging	Het
Zfp827	C	A	8: 79,905,588 (GRCm39)	A855E	probably damaging	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
RF016:Or6d12	UTSW	6	116,493,004 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGTAGCCATCTTTGCATACAGC -3'
(R):5'- GCAGGATTTGATAACATACCTGATG -3'

Sequencing Primer
(F):5'- GCATACAGCAACATAGTGGTC -3'
(R):5'- TTAACCCTGGACAGTGCA -3'

Posted On

2022-05-16