Mutagenetix > Incidental Mutation

Incidental Mutation 'R8855:Or8b12c'

675253

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

068736-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R8855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37715185-37716232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 37715709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 167 (F167L)

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: F167L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083231
Gene: ENSMUSG00000066750
AA Change: F167L

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: F167L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215287
AA Change: F167L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 59,914,511 (GRCm39)	T38I	probably benign	Het
Ace	T	A	11: 105,861,424 (GRCm39)	L191*	probably null	Het
Ahctf1	G	A	1: 179,614,341 (GRCm39)	H451Y	probably damaging	Het
Amotl1	C	A	9: 14,466,869 (GRCm39)		probably null	Het
Angptl6	T	A	9: 20,786,940 (GRCm39)	Y261F	probably damaging	Het
Arhgap1	G	T	2: 91,499,744 (GRCm39)	S293I	probably benign	Het
Atg9a	A	C	1: 75,161,867 (GRCm39)	F560V	probably damaging	Het
B4galnt4	G	A	7: 140,648,488 (GRCm39)	G668D	possibly damaging	Het
Btaf1	T	A	19: 36,935,901 (GRCm39)	N230K	probably benign	Het
Ccne1	A	C	7: 37,800,046 (GRCm39)	H179Q	probably benign	Het
Cdk5rap2	A	T	4: 70,218,887 (GRCm39)	D623E	probably damaging	Het
Cenpf	C	A	1: 189,385,430 (GRCm39)	K2283N	probably benign	Het
Clec16a	A	T	16: 10,462,731 (GRCm39)	D683V	probably damaging	Het
Clvs2	T	C	10: 33,404,400 (GRCm39)	D272G	probably benign	Het
Cnksr1	A	G	4: 133,959,494 (GRCm39)	V380A	probably damaging	Het
Col20a1	C	A	2: 180,655,684 (GRCm39)	P42T		Het
Ddx47	A	G	6: 135,000,356 (GRCm39)	K451E	probably benign	Het
Dennd4a	G	A	9: 64,819,672 (GRCm39)	G1761D	probably benign	Het
Dnah11	T	A	12: 118,156,107 (GRCm39)	H181L	probably benign	Het
Dync1h1	T	C	12: 110,602,333 (GRCm39)	C2074R	probably damaging	Het
Ell2	A	T	13: 75,917,793 (GRCm39)	Q574H	probably damaging	Het
Enpp7	A	G	11: 118,879,191 (GRCm39)	N50S	possibly damaging	Het
Fbp2	T	C	13: 62,989,709 (GRCm39)	K199R	probably benign	Het
Fetub	A	T	16: 22,758,321 (GRCm39)	E368V	possibly damaging	Het
Flt1	A	T	5: 147,507,682 (GRCm39)	D1209E	probably benign	Het
Flt1	A	T	5: 147,618,460 (GRCm39)	N260K	probably damaging	Het
Fras1	A	G	5: 96,917,465 (GRCm39)	H3495R		Het
Fsip2	A	G	2: 82,810,521 (GRCm39)	Q2280R	probably benign	Het
Gja10	A	T	4: 32,601,573 (GRCm39)	C270*	probably null	Het
Gpld1	A	G	13: 25,170,890 (GRCm39)	T794A	probably benign	Het
Gsk3b	A	G	16: 38,004,900 (GRCm39)	Y157C	probably damaging	Het
Gsta2	T	C	9: 78,244,880 (GRCm39)	K78R	probably damaging	Het
Gtf3a	A	G	5: 146,885,721 (GRCm39)	D44G	probably benign	Het
Hap1	C	A	11: 100,246,864 (GRCm39)	G14W	probably damaging	Het
Hcn4	T	A	9: 58,765,387 (GRCm39)	I623N	unknown	Het
Kank1	T	C	19: 25,388,702 (GRCm39)	S792P	possibly damaging	Het
Klra5	A	T	6: 129,880,533 (GRCm39)	W212R	probably damaging	Het
Kmt2d	A	T	15: 98,754,237 (GRCm39)	L1622Q	unknown	Het
Lipi	T	A	16: 75,355,481 (GRCm39)	D343V	probably damaging	Het
Lrp6	A	T	6: 134,445,785 (GRCm39)	N1009K	probably benign	Het
Lrrc39	T	A	3: 116,363,790 (GRCm39)	I121N	probably damaging	Het
Mamstr	A	T	7: 45,294,403 (GRCm39)	D419V	probably benign	Het
Map2k7	C	T	8: 4,293,594 (GRCm39)	T119I	probably damaging	Het
Mov10l1	A	T	15: 88,896,169 (GRCm39)	D671V	probably benign	Het
Mrps24	A	T	11: 5,654,642 (GRCm39)	L104Q	probably damaging	Het
Myh1	T	A	11: 67,102,247 (GRCm39)	L846H	probably damaging	Het
Ndufaf5	T	A	2: 140,025,840 (GRCm39)	I133N	possibly damaging	Het
Ndufs5	A	G	4: 123,609,655 (GRCm39)		probably null	Het
Numa1	G	C	7: 101,639,835 (GRCm39)	D62H	possibly damaging	Het
Or10g3	A	T	14: 52,610,196 (GRCm39)	Y105N	probably damaging	Het
Or52e19	T	A	7: 102,959,168 (GRCm39)	I80N	probably damaging	Het
Or52p2	G	T	7: 102,237,945 (GRCm39)	Q2K	probably benign	Het
Pag1	T	C	3: 9,764,529 (GRCm39)	K208R	probably benign	Het
Pkd1	T	C	17: 24,792,051 (GRCm39)	V1246A	probably damaging	Het
Plekhg2	T	C	7: 28,069,526 (GRCm39)	T144A	probably benign	Het
Plekhm2	A	T	4: 141,361,658 (GRCm39)	S262T	probably benign	Het
Pramel14	A	T	4: 143,720,905 (GRCm39)	L12Q	probably damaging	Het
Prpf4	A	G	4: 62,334,235 (GRCm39)	D230G	probably benign	Het
Rbm15b	C	T	9: 106,763,595 (GRCm39)	R191Q	probably benign	Het
Sec16a	G	A	2: 26,329,852 (GRCm39)	T721I	probably benign	Het
Serpinb6c	A	T	13: 34,083,309 (GRCm39)	I35N	probably damaging	Het
Sgk1	T	G	10: 21,871,726 (GRCm39)	S181A	probably benign	Het
Slc25a10	T	C	11: 120,385,795 (GRCm39)	S74P	probably damaging	Het
Slc30a3	C	A	5: 31,245,325 (GRCm39)	V332F	possibly damaging	Het
Smg1	A	G	7: 117,806,122 (GRCm39)	S240P	unknown	Het
Snapc4	G	A	2: 26,264,545 (GRCm39)	R265W	probably damaging	Het
Taar1	C	T	10: 23,796,976 (GRCm39)	R225C	possibly damaging	Het
Tmem74	A	G	15: 43,730,231 (GRCm39)	S271P	probably damaging	Het
Trank1	T	C	9: 111,141,289 (GRCm39)	V127A	unknown	Het
Trim66	G	T	7: 109,081,188 (GRCm39)	H244N	probably damaging	Het
Tshz2	T	A	2: 169,728,425 (GRCm39)	L1007H	probably damaging	Het
Ttc39c	A	T	18: 12,831,003 (GRCm39)	S288C	probably benign	Het
Twnk	C	T	19: 45,000,272 (GRCm39)	Q663*	probably null	Het
Ucn	T	A	5: 31,295,857 (GRCm39)	Q3L	probably benign	Het
Usp9y	C	T	Y: 1,395,758 (GRCm39)	R492H	probably damaging	Het
Vars1	T	C	17: 35,234,620 (GRCm39)	S1150P	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfand1	T	C	3: 10,405,811 (GRCm39)	D264G	probably benign	Het
Zfp839	A	G	12: 110,834,848 (GRCm39)	E701G	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGTCTTTTATTCTGTCAGCCATGG -3'
(R):5'- CAATCATGTGGGAGCTGCAG -3'

Sequencing Primer
(F):5'- TGTCAGCCATGGCATATGAC -3'
(R):5'- CCCTCTGTGGAATGCATGTGAAG -3'

Posted On

2021-07-15