Mutagenetix > Incidental Mutation

Incidental Mutation 'R6238:Or8b12c'

505058

Institutional Source

Beutler Lab

Gene Symbol

Or8b12c

Ensembl Gene

ENSMUSG00000066750

Gene Name

olfactory receptor family 8 subfamily B member 12C

Synonyms

Olfr876, MOR161-1, GA_x6K02T2PVTD-31489645-31490577

MMRRC Submission

044401-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R6238 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37715185-37716232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37715317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 37 (T37A)

Ref Sequence

ENSEMBL: ENSMUSP00000149930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086064] [ENSMUST00000213368] [ENSMUST00000215287]

AlphaFold

Q7TRE4

Predicted Effect

probably benign
Transcript: ENSMUST00000086064
AA Change: T37A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000083231
Gene: ENSMUSG00000066750
AA Change: T37A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1.6e-47	PFAM
Pfam:7tm_1	40	289	3.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213368
AA Change: T37A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000215287
AA Change: T37A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (62/62)

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
2610028H24Rik	A	C	10: 76,285,096 (GRCm39)	T2P	possibly damaging	Het
2610042L04Rik	A	G	14: 4,348,962 (GRCm38)	N41S	probably damaging	Het
4933402N03Rik	T	C	7: 130,747,863 (GRCm39)	D43G	probably benign	Het
Adcy10	C	A	1: 165,403,297 (GRCm39)	Y1598*	probably null	Het
Adgrv1	G	A	13: 81,614,402 (GRCm39)	T3997M	probably benign	Het
Amfr	A	C	8: 94,726,992 (GRCm39)	F74V	probably damaging	Het
Ankrd13a	T	C	5: 114,924,787 (GRCm39)	Y91H	probably benign	Het
Baiap3	A	G	17: 25,464,732 (GRCm39)	S767P	probably benign	Het
Car12	C	T	9: 66,661,008 (GRCm39)	T124I	probably damaging	Het
Casp9	G	T	4: 141,534,448 (GRCm39)	G286V	probably damaging	Het
Cc2d2a	T	A	5: 43,828,577 (GRCm39)	D18E	probably benign	Het
Cdc27	T	C	11: 104,419,270 (GRCm39)	N221D	probably damaging	Het
Cebpz	A	G	17: 79,244,339 (GRCm39)	S41P	possibly damaging	Het
Cenpo	T	A	12: 4,281,968 (GRCm39)	S10C	possibly damaging	Het
Chid1	A	G	7: 141,076,049 (GRCm39)	V368A	probably benign	Het
Clca3a1	C	A	3: 144,714,716 (GRCm39)	V634L	probably benign	Het
Cmtr1	A	G	17: 29,901,122 (GRCm39)	D683G	probably damaging	Het
Cpsf3	G	T	12: 21,350,163 (GRCm39)	R294L	probably damaging	Het
Ddrgk1	G	A	2: 130,496,599 (GRCm39)	T255M	possibly damaging	Het
Dennd6a	T	A	14: 26,337,813 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,820,743 (GRCm39)	R526G	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Efcab10	T	C	12: 33,448,433 (GRCm39)	Y89H	probably damaging	Het
Etl4	T	A	2: 20,806,379 (GRCm39)	D1200E	probably damaging	Het
Fbn1	T	A	2: 125,166,865 (GRCm39)	D2017V	probably damaging	Het
Ftmt	G	A	18: 52,465,307 (GRCm39)	V208M	probably damaging	Het
Fzd10	T	C	5: 128,679,995 (GRCm39)	Y572H	probably damaging	Het
Gcc1	T	C	6: 28,420,742 (GRCm39)	K39E	probably damaging	Het
Hydin	A	G	8: 111,118,743 (GRCm39)		probably null	Het
Lif	A	G	11: 4,218,940 (GRCm39)	E73G	possibly damaging	Het
Lrtm1	C	A	14: 28,749,628 (GRCm39)	Q357K	probably benign	Het
Mef2d	T	A	3: 88,066,852 (GRCm39)	L205Q	probably damaging	Het
Naalad2	T	A	9: 18,296,361 (GRCm39)	E96D	probably damaging	Het
Nbas	T	C	12: 13,532,596 (GRCm39)	I1768T	probably benign	Het
Nodal	T	C	10: 61,259,258 (GRCm39)	S232P	probably damaging	Het
Or52ab7	A	T	7: 102,978,115 (GRCm39)	I141F	possibly damaging	Het
Parl	G	A	16: 20,120,963 (GRCm39)	R39C	possibly damaging	Het
Pcdha9	G	A	18: 37,132,028 (GRCm39)	V366I	probably benign	Het
Pdzd8	A	G	19: 59,288,994 (GRCm39)	V802A	probably benign	Het
Plcl2	T	C	17: 50,913,873 (GRCm39)	V294A	probably damaging	Het
Plxna2	T	A	1: 194,472,504 (GRCm39)	S1083T	probably benign	Het
Polr2a	G	T	11: 69,638,047 (GRCm39)	L141I	possibly damaging	Het
Ptpre	C	A	7: 135,272,909 (GRCm39)	R468S	probably damaging	Het
Raet1e	T	A	10: 22,056,770 (GRCm39)	N115K	probably benign	Het
Rfx8	C	A	1: 39,709,554 (GRCm39)	S491I	probably damaging	Het
Rpe	T	A	1: 66,740,807 (GRCm39)	L48*	probably null	Het
Skint5	A	T	4: 113,800,064 (GRCm39)		probably null	Het
Spata24	C	A	18: 35,793,389 (GRCm39)	S111I	possibly damaging	Het
Suz12	G	C	11: 79,893,006 (GRCm39)		probably benign	Het
Taf4	T	A	2: 179,573,832 (GRCm39)	I679F	probably damaging	Het
Tlr1	G	T	5: 65,084,472 (GRCm39)	P35Q	possibly damaging	Het
Tonsl	T	C	15: 76,520,418 (GRCm39)		probably null	Het
Tsen54	G	A	11: 115,711,513 (GRCm39)	R310H	probably benign	Het
Ttc7b	A	G	12: 100,461,681 (GRCm39)	S99P	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uhmk1	T	A	1: 170,027,563 (GRCm39)	N378I	probably damaging	Het
Vmn2r107	A	G	17: 20,565,849 (GRCm39)	T55A	probably benign	Het
Vmn2r74	C	T	7: 85,601,280 (GRCm39)	C786Y	probably damaging	Het
Wdr20rt	C	T	12: 65,272,964 (GRCm39)		probably benign	Het
Zfand2a	T	A	5: 139,467,746 (GRCm39)	H42L	probably damaging	Het
Zfp990	T	A	4: 145,264,483 (GRCm39)	C494S	probably damaging	Het
Zkscan4	A	T	13: 21,668,757 (GRCm39)	R403W	possibly damaging	Het

Other mutations in Or8b12c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Or8b12c	APN	9	37,716,078 (GRCm39)	missense	probably damaging	1.00
IGL01330:Or8b12c	APN	9	37,715,516 (GRCm39)	missense	probably damaging	1.00
IGL02105:Or8b12c	APN	9	37,715,891 (GRCm39)	missense	possibly damaging	0.53
IGL02505:Or8b12c	APN	9	37,715,627 (GRCm39)	missense	probably benign	0.08
R1543:Or8b12c	UTSW	9	37,715,243 (GRCm39)	missense	possibly damaging	0.94
R1768:Or8b12c	UTSW	9	37,715,599 (GRCm39)	missense	probably damaging	1.00
R1960:Or8b12c	UTSW	9	37,715,242 (GRCm39)	missense	probably benign	0.01
R2567:Or8b12c	UTSW	9	37,715,509 (GRCm39)	missense	probably damaging	1.00
R3815:Or8b12c	UTSW	9	37,715,465 (GRCm39)	missense	probably benign	0.05
R3816:Or8b12c	UTSW	9	37,715,465 (GRCm39)	missense	probably benign	0.05
R3817:Or8b12c	UTSW	9	37,715,465 (GRCm39)	missense	probably benign	0.05
R3819:Or8b12c	UTSW	9	37,715,465 (GRCm39)	missense	probably benign	0.05
R4364:Or8b12c	UTSW	9	37,715,486 (GRCm39)	missense	probably benign	0.19
R4366:Or8b12c	UTSW	9	37,715,486 (GRCm39)	missense	probably benign	0.19
R4620:Or8b12c	UTSW	9	37,716,115 (GRCm39)	missense	probably benign	0.02
R5530:Or8b12c	UTSW	9	37,716,103 (GRCm39)	missense	probably benign	0.00
R6199:Or8b12c	UTSW	9	37,716,177 (GRCm39)	splice site	probably null
R6893:Or8b12c	UTSW	9	37,716,141 (GRCm39)	makesense	probably null
R7404:Or8b12c	UTSW	9	37,715,257 (GRCm39)	missense	possibly damaging	0.80
R7806:Or8b12c	UTSW	9	37,715,872 (GRCm39)	missense	probably damaging	0.99
R8855:Or8b12c	UTSW	9	37,715,709 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTGGATTCCATTTTCACAGGGAG -3'
(R):5'- ATGCACCCTGGATGTGAGATG -3'

Sequencing Primer
(F):5'- CCATTTTCACAGGGAGAACATAG -3'
(R):5'- CACCCTGGATGTGAGATGATGTTC -3'

Posted On

2018-02-28