Mutagenetix > Incidental Mutation

Incidental Mutation 'R6882:Or6d12'

536724

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

044977-MU

Accession Numbers

Essential gene?

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

Stock #

R6882 (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 116493395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 219 (V219A)

Ref Sequence

ENSEMBL: ENSMUSP00000151524 (fasta)

Gene Model

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

AlphaFold

Q7TS33

Predicted Effect

probably benign
Transcript: ENSMUST00000075756
AA Change: V219A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000075164
Gene: ENSMUSG00000053251
AA Change: V219A

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: V219A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000220134
AA Change: V219A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	A	G	12: 71,003,125 (GRCm39)	E238G	probably benign	Het
Adgrf5	T	A	17: 43,761,271 (GRCm39)	C989S	probably damaging	Het
Ank2	T	G	3: 126,739,406 (GRCm39)		probably benign	Het
C2cd6	T	C	1: 59,105,318 (GRCm39)	D320G	probably damaging	Het
Cacnb2	T	A	2: 14,829,110 (GRCm39)	I15N	probably benign	Het
Cage1	T	A	13: 38,206,534 (GRCm39)	Q437L	probably damaging	Het
Capn15	G	T	17: 26,179,153 (GRCm39)		probably null	Het
Cbll1	A	G	12: 31,537,484 (GRCm39)	Y424H	probably damaging	Het
Ccdc166	T	C	15: 75,853,466 (GRCm39)	H167R	possibly damaging	Het
Ccdc7a	T	C	8: 129,523,809 (GRCm39)		probably benign	Het
Cdkl4	T	A	17: 80,851,175 (GRCm39)	T176S	probably damaging	Het
Cnot1	T	C	8: 96,447,054 (GRCm39)	E2321G	possibly damaging	Het
Col6a5	G	A	9: 105,817,469 (GRCm39)	Q281*	probably null	Het
Csmd2	A	G	4: 128,343,062 (GRCm39)	T1485A	probably benign	Het
Dmxl1	A	G	18: 49,976,851 (GRCm39)		probably null	Het
Dnah3	A	G	7: 119,570,407 (GRCm39)	I2271T	possibly damaging	Het
Elavl2	A	G	4: 91,196,952 (GRCm39)	I42T	probably damaging	Het
Epn3	C	T	11: 94,382,186 (GRCm39)	A568T	probably benign	Het
Etv3	T	C	3: 87,436,577 (GRCm39)	F111L	probably damaging	Het
Fnip1	A	G	11: 54,400,724 (GRCm39)	E1041G	probably damaging	Het
Fosl2	T	C	5: 32,310,208 (GRCm39)	V219A	possibly damaging	Het
Foxj2	T	A	6: 122,805,464 (GRCm39)		probably null	Het
Gm8947	G	A	1: 151,068,880 (GRCm39)	A238T	possibly damaging	Het
Golgb1	C	A	16: 36,734,352 (GRCm39)	Q1200K	probably benign	Het
Igkv4-55	A	G	6: 69,584,289 (GRCm39)	Y108H	probably damaging	Het
Iglc1	G	A	16: 18,880,599 (GRCm39)		probably benign	Het
Ints13	G	T	6: 146,464,939 (GRCm39)	R221S	probably null	Het
Ipo11	T	C	13: 107,037,190 (GRCm39)		probably null	Het
Kcnn2	A	T	18: 45,692,505 (GRCm39)	H27L	possibly damaging	Het
Kcns3	C	T	12: 11,142,049 (GRCm39)	V217M	probably benign	Het
Klra9	A	T	6: 130,155,985 (GRCm39)	C257S	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lmbr1l	A	G	15: 98,805,467 (GRCm39)	F345L	probably damaging	Het
Lrrc18	A	C	14: 32,730,646 (GRCm39)	I62L	probably benign	Het
Mr1	A	G	1: 155,008,199 (GRCm39)	W259R	possibly damaging	Het
Myo15a	G	A	11: 60,414,832 (GRCm39)	R3325H	probably damaging	Het
Nid2	A	G	14: 19,839,775 (GRCm39)	D788G	probably damaging	Het
Or2y1c	A	T	11: 49,361,290 (GRCm39)	Y104F	probably benign	Het
Or5an10	C	A	19: 12,275,934 (GRCm39)	Q187H	probably damaging	Het
Or5h24	A	T	16: 58,918,990 (GRCm39)	C122S	unknown	Het
Pbld1	T	C	10: 62,897,241 (GRCm39)	L11P	probably benign	Het
Pcnt	T	C	10: 76,263,662 (GRCm39)	E434G	probably benign	Het
Prg4	G	A	1: 150,329,246 (GRCm39)	T174M	probably damaging	Het
Prkdc	G	A	16: 15,601,127 (GRCm39)		probably null	Het
Prkdc	T	A	16: 15,626,020 (GRCm39)	S3349T	probably benign	Het
Prpf38a	C	A	4: 108,427,365 (GRCm39)	E199D	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Rhbg	T	A	3: 88,152,527 (GRCm39)	H339L	probably damaging	Het
Rnf183	A	G	4: 62,346,261 (GRCm39)	I179T	probably benign	Het
Sh3bp5l	G	T	11: 58,222,525 (GRCm39)	A7S	probably benign	Het
Slc12a3	T	A	8: 95,092,546 (GRCm39)	I989N	possibly damaging	Het
Sycp3	C	T	10: 88,308,791 (GRCm39)	R246*	probably null	Het
Tmprss11b	T	A	5: 86,819,530 (GRCm39)		probably null	Het
Tmx4	T	C	2: 134,485,922 (GRCm39)	T2A	possibly damaging	Het
Tnfsf10	T	C	3: 27,380,182 (GRCm39)	L82S	possibly damaging	Het
Tnni3k	T	A	3: 154,663,357 (GRCm39)	I332F	possibly damaging	Het
Ttn	T	A	2: 76,644,539 (GRCm39)	T13072S	probably benign	Het
Vmn2r1	A	T	3: 63,997,529 (GRCm39)	Y395F	possibly damaging	Het
Zbbx	A	G	3: 74,979,019 (GRCm39)	V476A	probably benign	Het
Zfp341	T	C	2: 154,479,943 (GRCm39)	C465R	probably damaging	Het
Zfp398	A	G	6: 47,843,016 (GRCm39)	D224G	probably damaging	Het
Zfp407	G	T	18: 84,361,194 (GRCm39)		probably null	Het
Zfp52	T	C	17: 21,775,309 (GRCm39)	M1T	probably null	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
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
RF016:Or6d12	UTSW	6	116,493,004 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGATTCCTCTTCATGGCTGG -3'
(R):5'- GTTCAGAAGGGGTGTCACTAC -3'

Sequencing Primer
(F):5'- GTCCAGTTGTGATGCTTTCCCAG -3'
(R):5'- GTGTCACTACCGTGTTCACAAGAG -3'

Posted On

2018-10-18