Mutagenetix > Incidental Mutation

Incidental Mutation 'R6944:Or6d12'

540770

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

045058-MU

Accession Numbers

Essential gene?

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

Stock #

R6944 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116483477-116494926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116492791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 18 (F18L)

Ref Sequence

ENSEMBL: ENSMUSP00000151524 (fasta)

Gene Model

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

AlphaFold

Q7TS33

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075756
AA Change: F18L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075164
Gene: ENSMUSG00000053251
AA Change: F18L

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: F18L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220134
AA Change: F18L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

97% (75/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	G	5: 8,863,693 (GRCm39)	V216G	probably damaging	Het
Abcb5	T	C	12: 118,875,265 (GRCm39)	R636G	probably benign	Het
Ago1	G	T	4: 126,354,215 (GRCm39)	F198L	possibly damaging	Het
Ankrd42	C	T	7: 92,268,755 (GRCm39)		probably null	Het
Anxa11	T	A	14: 25,875,176 (GRCm39)	F274I	probably damaging	Het
Ascc1	T	C	10: 59,849,475 (GRCm39)	L122P	probably damaging	Het
Bptf	T	C	11: 106,971,649 (GRCm39)	S953G	probably damaging	Het
Chml	T	A	1: 175,515,727 (GRCm39)	N65Y	probably damaging	Het
Clcc1	A	G	3: 108,578,284 (GRCm39)	K262E	probably damaging	Het
Clhc1	T	G	11: 29,519,346 (GRCm39)	D384E	probably damaging	Het
Cnot2	G	A	10: 116,373,128 (GRCm39)		probably benign	Het
Cntnap1	T	C	11: 101,073,730 (GRCm39)	V627A	probably damaging	Het
Col6a4	A	G	9: 105,949,370 (GRCm39)	V755A	probably damaging	Het
Cyp4f18	T	A	8: 72,743,738 (GRCm39)	I406F	probably benign	Het
Dclre1a	T	C	19: 56,533,451 (GRCm39)	E381G	possibly damaging	Het
Dnah1	A	G	14: 30,990,861 (GRCm39)	Y3153H	probably damaging	Het
Dnah8	C	A	17: 31,013,633 (GRCm39)	D3791E	probably benign	Het
Dnah9	T	C	11: 65,975,975 (GRCm39)	E1358G	possibly damaging	Het
Eef1g	G	A	19: 8,945,656 (GRCm39)	R30H	probably benign	Het
Egln3	A	T	12: 54,230,738 (GRCm39)	I181N	probably benign	Het
Entpd6	A	G	2: 150,605,519 (GRCm39)	T250A	probably damaging	Het
Epb41l5	C	T	1: 119,536,859 (GRCm39)	R344Q	probably damaging	Het
Fam20b	T	C	1: 156,515,091 (GRCm39)	D258G	probably benign	Het
Fbxw18	A	T	9: 109,531,655 (GRCm39)	D21E	probably damaging	Het
Fbxw21	T	C	9: 108,986,603 (GRCm39)	E92G	probably damaging	Het
Fzd6	T	A	15: 38,889,212 (GRCm39)	M110K	possibly damaging	Het
Golgb1	C	T	16: 36,732,475 (GRCm39)	P574L	probably benign	Het
Gpr153	A	G	4: 152,363,820 (GRCm39)	E80G	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Kcnt1	T	C	2: 25,767,840 (GRCm39)		probably benign	Het
Kcnt2	T	G	1: 140,511,803 (GRCm39)	V962G	probably benign	Het
Malt1	T	C	18: 65,570,991 (GRCm39)	V109A	probably benign	Het
Marchf7	A	G	2: 60,064,587 (GRCm39)	I288V	probably benign	Het
Mief1	C	T	15: 80,133,644 (GRCm39)	R234C	probably damaging	Het
Morc3	A	G	16: 93,667,460 (GRCm39)	S613G	probably benign	Het
Myt1	A	G	2: 181,439,387 (GRCm39)	E345G	possibly damaging	Het
Napb	T	C	2: 148,548,889 (GRCm39)	T133A	probably benign	Het
Nwd1	T	C	8: 73,380,162 (GRCm39)	V16A	possibly damaging	Het
Oas1f	G	A	5: 120,986,247 (GRCm39)	E67K	probably benign	Het
Obscn	T	C	11: 58,929,756 (GRCm39)	K5153R	probably damaging	Het
Or2w3b	T	A	11: 58,623,068 (GRCm39)	S308C	possibly damaging	Het
Or5a3	G	T	19: 12,400,628 (GRCm39)	M318I	probably benign	Het
Or5g26	C	T	2: 85,494,195 (GRCm39)	M194I	probably benign	Het
Pdcd2	T	C	17: 15,745,632 (GRCm39)	N185S	possibly damaging	Het
Pgap1	A	T	1: 54,569,320 (GRCm39)	W349R	probably damaging	Het
Prpf39	T	A	12: 65,089,454 (GRCm39)	V64E	probably benign	Het
Ptpn13	T	A	5: 103,624,857 (GRCm39)	W54R	probably null	Het
Rbms3	G	T	9: 116,939,173 (GRCm39)	P29Q	probably damaging	Het
Rnf123	A	G	9: 107,940,822 (GRCm39)	L679P	probably benign	Het
Samd4	T	A	14: 47,254,092 (GRCm39)	D84E	possibly damaging	Het
Scarf1	T	C	11: 75,413,032 (GRCm39)	V426A	probably benign	Het
Slc12a1	A	G	2: 125,002,454 (GRCm39)	N145D	probably damaging	Het
Slc2a6	A	T	2: 26,916,076 (GRCm39)	M99K	probably damaging	Het
Slc34a2	A	T	5: 53,222,225 (GRCm39)	I306L	probably benign	Het
Slx4ip	A	G	2: 136,910,195 (GRCm39)	K397E	probably damaging	Het
Smr3a	C	T	5: 88,155,949 (GRCm39)		probably benign	Het
Spata31h1	A	C	10: 82,132,056 (GRCm39)	I318R	probably benign	Het
Spef2	T	C	15: 9,592,835 (GRCm39)	E1502G	probably damaging	Het
Sri	A	T	5: 8,113,365 (GRCm39)	T119S	probably benign	Het
Synrg	T	A	11: 83,915,912 (GRCm39)	L1085H	probably damaging	Het
Taf7	A	T	18: 37,775,910 (GRCm39)	L219H	probably damaging	Het
Tmco3	T	A	8: 13,353,729 (GRCm39)	V347E	probably damaging	Het
Tmem8b	A	T	4: 43,674,465 (GRCm39)	I250F	probably damaging	Het
Tom1l2	A	G	11: 60,139,817 (GRCm39)	V239A	probably damaging	Het
Trpm1	T	A	7: 63,893,181 (GRCm39)	M1011K	probably damaging	Het
Tspan9	A	T	6: 127,942,769 (GRCm39)	Y153N	probably benign	Het
Ttll11	T	C	2: 35,642,306 (GRCm39)	H675R	probably benign	Het
Unc50	C	T	1: 37,471,743 (GRCm39)	T131M	probably damaging	Het
Vgf	T	A	5: 137,061,206 (GRCm39)	I456N	probably damaging	Het
Vmn1r223	A	G	13: 23,433,483 (GRCm39)	I26V	unknown	Het
Vmn1r39	T	C	6: 66,782,205 (GRCm39)	M1V	probably null	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r14	T	C	5: 109,363,925 (GRCm39)	T664A	probably benign	Het
Vmn2r14	G	A	5: 109,364,140 (GRCm39)	T592I	probably benign	Het
Vmn2r96	T	A	17: 18,817,891 (GRCm39)	F489L	probably benign	Het
Vmn2r-ps158	T	C	7: 42,697,393 (GRCm39)	F817L	possibly 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
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
RF016:Or6d12	UTSW	6	116,493,004 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATGCCCTGTTAACCAAGTCTG -3'
(R):5'- TGCCTCCCTGACAGAAAGATG -3'

Sequencing Primer
(F):5'- TGTTAACCAAGTCTGAACACCTTC -3'
(R):5'- CTCCCTGACAGAAAGATGGCGAG -3'

Posted On

2018-11-28