Mutagenetix > Incidental Mutation

Incidental Mutation 'R2567:Or8b12c'

254560

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

040426-MU

Accession Numbers

Essential gene?

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

Stock #

R2567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37715185-37716232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37715509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 101 (F101I)

Ref Sequence

ENSEMBL: ENSMUSP00000149930 (fasta)

Gene Model

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

AlphaFold

Q7TRE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000086064
AA Change: F101I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000083231
Gene: ENSMUSG00000066750
AA Change: F101I

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 damaging
Transcript: ENSMUST00000213368
AA Change: F101I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215287
AA Change: F101I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,836,475 (GRCm39)		probably benign	Het
Aebp1	A	G	11: 5,820,251 (GRCm39)	D409G	probably benign	Het
Akap10	A	G	11: 61,784,175 (GRCm39)		probably benign	Het
Akap6	G	T	12: 52,985,156 (GRCm39)	S863I	probably damaging	Het
Ap1s3	T	C	1: 79,602,921 (GRCm39)	K29E	possibly damaging	Het
Atm	T	A	9: 53,368,770 (GRCm39)	I2341L	possibly damaging	Het
Atp12a	A	T	14: 56,624,384 (GRCm39)	D944V	probably damaging	Het
Baz2b	A	T	2: 59,744,255 (GRCm39)	S1417T	possibly damaging	Het
Cacna1a	T	A	8: 85,276,354 (GRCm39)	M613K	probably damaging	Het
Ccdc191	A	C	16: 43,764,330 (GRCm39)		probably null	Het
Cd209d	T	A	8: 3,926,327 (GRCm39)	N96I	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdk4	T	G	10: 126,900,145 (GRCm39)	V14G	probably benign	Het
Chrna10	C	A	7: 101,761,276 (GRCm39)	M438I	probably benign	Het
Clec10a	T	C	11: 70,060,358 (GRCm39)		probably null	Het
Cog3	A	G	14: 75,991,730 (GRCm39)	V40A	probably benign	Het
Creb3l3	T	C	10: 80,921,883 (GRCm39)	H315R	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,283,167 (GRCm39)		probably null	Het
Cygb	T	C	11: 116,540,692 (GRCm39)	D98G	probably damaging	Het
Dmbx1	T	C	4: 115,777,489 (GRCm39)	K120E	probably damaging	Het
Dnah3	T	A	7: 119,551,920 (GRCm39)	I2800F	possibly damaging	Het
Dntt	G	T	19: 41,029,775 (GRCm39)	R245L	possibly damaging	Het
Dock1	T	G	7: 134,747,213 (GRCm39)	V1508G	probably damaging	Het
Enpp4	A	C	17: 44,412,736 (GRCm39)	I266R	probably damaging	Het
Fhl4	T	C	10: 84,934,644 (GRCm39)	I46V	possibly damaging	Het
Fn1	G	A	1: 71,636,895 (GRCm39)	Q1995*	probably null	Het
Foxl3	A	G	5: 138,805,940 (GRCm39)	S36G	probably null	Het
Foxo1	T	A	3: 52,176,755 (GRCm39)	L178H	probably damaging	Het
Galnt18	C	T	7: 111,153,823 (GRCm39)	R267H	probably damaging	Het
Gm1110	T	C	9: 26,831,992 (GRCm39)	D53G	probably benign	Het
Gm7104	A	T	12: 88,252,242 (GRCm39)		noncoding transcript	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Haus6	C	A	4: 86,504,122 (GRCm39)	E501*	probably null	Het
Ifna5	T	C	4: 88,754,147 (GRCm39)	V129A	probably benign	Het
Kdelr3	A	G	15: 79,407,032 (GRCm39)	I38V	probably benign	Het
Lamb1	A	G	12: 31,319,054 (GRCm39)		probably null	Het
Larp7-ps	T	C	4: 92,079,560 (GRCm39)	E87G	probably benign	Het
Mgat4c	T	A	10: 102,214,123 (GRCm39)	F35L	probably benign	Het
Mmab	A	T	5: 114,571,378 (GRCm39)	M166K	probably benign	Het
Mrpl2	A	G	17: 46,958,427 (GRCm39)	T70A	probably benign	Het
Naa11	C	T	5: 97,539,618 (GRCm39)	G180D	probably benign	Het
Npy6r	T	C	18: 44,408,888 (GRCm39)	V103A	possibly damaging	Het
Nup188	A	T	2: 30,231,794 (GRCm39)	R1463W	possibly damaging	Het
Nusap1	T	A	2: 119,474,311 (GRCm39)	S336R	possibly damaging	Het
Pabpc4	T	A	4: 123,191,744 (GRCm39)	L589Q	probably damaging	Het
Pcdh12	T	A	18: 38,415,149 (GRCm39)	N659Y	probably damaging	Het
Perm1	T	C	4: 156,301,575 (GRCm39)	S40P	probably damaging	Het
Phldb1	T	C	9: 44,637,322 (GRCm39)	T114A	probably damaging	Het
Pirt	C	T	11: 66,816,985 (GRCm39)	L99F	probably damaging	Het
Plxdc2	A	G	2: 16,716,995 (GRCm39)	R360G	probably benign	Het
Rhpn2	G	A	7: 35,080,957 (GRCm39)		probably null	Het
Rpusd2	T	A	2: 118,867,556 (GRCm39)	I268N	probably damaging	Het
Sds	G	T	5: 120,619,646 (GRCm39)	W185L	probably damaging	Het
Serpinb5	A	G	1: 106,802,876 (GRCm39)	K137R	probably benign	Het
Sh3pxd2a	A	G	19: 47,413,008 (GRCm39)	V25A	possibly damaging	Het
Slc1a2	C	T	2: 102,597,355 (GRCm39)	T454I	probably damaging	Het
Slc25a40	T	C	5: 8,480,459 (GRCm39)	C70R	probably damaging	Het
Smoc1	G	A	12: 81,214,364 (GRCm39)	E260K	probably damaging	Het
Sparcl1	A	T	5: 104,232,954 (GRCm39)	F616I	probably damaging	Het
Ssc5d	A	T	7: 4,939,334 (GRCm39)	D590V	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm2	C	T	10: 77,777,008 (GRCm39)	V430M	probably damaging	Het
Ttn	T	C	2: 76,574,672 (GRCm39)	D25407G	probably damaging	Het
Vmn2r68	T	C	7: 84,883,803 (GRCm39)	I101V	probably benign	Het
Xrcc4	A	T	13: 90,210,261 (GRCm39)	M61K	probably damaging	Het
Zfp648	A	G	1: 154,080,695 (GRCm39)	T285A	probably 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
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
R6238:Or8b12c	UTSW	9	37,715,317 (GRCm39)	missense	probably benign	0.26
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'- GGAACCTGGGTTTGATCTCC -3'
(R):5'- ACAATGTTGTCAGCACAGAAG -3'

Sequencing Primer
(F):5'- CCTGATTGGGCTGAACTCTCAC -3'
(R):5'- TCAGCCTTGCCATGGATATG -3'

Posted On

2014-12-04