Mutagenetix > Incidental Mutation

Incidental Mutation 'R1543:Or8b12c'

171930

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

039582-MU

Accession Numbers

Essential gene?

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

Stock #

R1543 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37715185-37716232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37715243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 12 (I12N)

Ref Sequence

ENSEMBL: ENSMUSP00000149930 (fasta)

Gene Model

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

AlphaFold

Q7TRE4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086064
AA Change: I12N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083231
Gene: ENSMUSG00000066750
AA Change: I12N

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

possibly damaging
Transcript: ENSMUST00000213368
AA Change: I12N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215287
AA Change: I12N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.4373

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.2%

Validation Efficiency

95% (77/81)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	G	A	6: 40,945,138 (GRCm39)	V206I	probably damaging	Het
Abca8b	A	C	11: 109,865,500 (GRCm39)	M319R	probably damaging	Het
Abcc6	T	C	7: 45,665,928 (GRCm39)	R231G	probably benign	Het
Acadm	A	G	3: 153,635,209 (GRCm39)	Y302H	probably damaging	Het
Acox3	C	A	5: 35,760,352 (GRCm39)	R423S	probably damaging	Het
Adam7	T	A	14: 68,759,371 (GRCm39)		probably benign	Het
Adgrb3	A	C	1: 25,527,169 (GRCm39)	M589R	probably benign	Het
Adgrl2	A	C	3: 148,564,909 (GRCm39)	F224V	probably damaging	Het
Adm2	G	C	15: 89,208,282 (GRCm39)	G74A	probably damaging	Het
Aen	T	A	7: 78,552,370 (GRCm39)	V15E	probably damaging	Het
Ankzf1	T	A	1: 75,169,160 (GRCm39)	V22D	possibly damaging	Het
Arap2	T	A	5: 62,763,498 (GRCm39)	K1549*	probably null	Het
Arhgef11	G	A	3: 87,620,324 (GRCm39)	R430H	probably benign	Het
Asb17	T	G	3: 153,550,148 (GRCm39)	L60W	probably damaging	Het
BC035044	T	C	6: 128,867,948 (GRCm39)		probably benign	Het
Bltp2	A	G	11: 78,166,000 (GRCm39)	T1422A	probably benign	Het
Cacna2d1	A	T	5: 16,471,716 (GRCm39)	M254L	possibly damaging	Het
Celf6	T	C	9: 59,511,160 (GRCm39)		probably benign	Het
Cemip2	G	T	19: 21,789,937 (GRCm39)	A668S	probably benign	Het
Coro2b	C	T	9: 62,333,123 (GRCm39)	V120I	probably benign	Het
Cyp20a1	C	A	1: 60,415,353 (GRCm39)		probably benign	Het
Cyp2c67	C	A	19: 39,631,708 (GRCm39)		probably benign	Het
Dclk3	A	G	9: 111,297,122 (GRCm39)	H222R	probably benign	Het
Deaf1	A	G	7: 140,904,060 (GRCm39)	S109P	possibly damaging	Het
Dlg5	T	A	14: 24,194,516 (GRCm39)	D1675V	probably damaging	Het
Dsg2	T	A	18: 20,727,268 (GRCm39)	V605E	probably benign	Het
Dync2i1	T	C	12: 116,195,404 (GRCm39)		probably benign	Het
Frem2	A	T	3: 53,479,876 (GRCm39)	I1939N	possibly damaging	Het
Fsip2	A	T	2: 82,811,931 (GRCm39)	Y2750F	possibly damaging	Het
Gpr39	T	A	1: 125,800,161 (GRCm39)	I304N	probably damaging	Het
Hdac7	G	A	15: 97,707,410 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,685,480 (GRCm39)	H45R	probably benign	Het
Hyal2	T	C	9: 107,447,386 (GRCm39)	L13P	probably damaging	Het
Kdm1b	C	T	13: 47,221,997 (GRCm39)	R479W	probably damaging	Het
Lilrb4b	A	G	10: 51,357,517 (GRCm39)	T118A	probably damaging	Het
Lin7a	C	A	10: 107,247,930 (GRCm39)	F78L	possibly damaging	Het
Lpin3	A	G	2: 160,737,310 (GRCm39)	D119G	possibly damaging	Het
Lrp2	G	A	2: 69,331,074 (GRCm39)	R1661C	probably damaging	Het
Lrrc45	A	G	11: 120,610,844 (GRCm39)	K527E	probably benign	Het
Map10	C	T	8: 126,397,611 (GRCm39)	P335S	probably benign	Het
Mast3	A	G	8: 71,244,955 (GRCm39)	S2P	possibly damaging	Het
Mbtps1	A	G	8: 120,268,808 (GRCm39)		probably benign	Het
Mms22l	T	A	4: 24,591,084 (GRCm39)	N1018K	probably benign	Het
Nckipsd	C	A	9: 108,689,571 (GRCm39)	A244D	possibly damaging	Het
Nt5el	A	T	13: 105,248,877 (GRCm39)	R364*	probably null	Het
Or12k5	C	A	2: 36,895,139 (GRCm39)	L162F	probably damaging	Het
Or1j1	A	T	2: 36,703,069 (GRCm39)	F12I	probably damaging	Het
Or4k44	A	G	2: 111,368,142 (GRCm39)	V164A	probably benign	Het
Or52j3	T	A	7: 102,836,421 (GRCm39)	F204L	probably benign	Het
Pcx	A	T	19: 4,652,251 (GRCm39)	D112V	probably damaging	Het
Phf14	G	A	6: 11,987,682 (GRCm39)		probably null	Het
Pkd1l1	A	G	11: 8,851,200 (GRCm39)	I744T	probably damaging	Het
Ppip5k2	A	G	1: 97,668,607 (GRCm39)	L560P	probably damaging	Het
Psmd14	A	T	2: 61,615,874 (GRCm39)	M248L	probably benign	Het
Ryr1	T	G	7: 28,782,962 (GRCm39)	E1884A	possibly damaging	Het
Scn4b	T	A	9: 45,061,727 (GRCm39)	S204R	probably damaging	Het
Slc12a1	A	T	2: 125,026,777 (GRCm39)	M471L	possibly damaging	Het
Slc17a5	A	G	9: 78,468,082 (GRCm39)	V236A	probably benign	Het
Sobp	T	C	10: 42,897,720 (GRCm39)	T622A	probably damaging	Het
Spata31d1a	G	T	13: 59,850,056 (GRCm39)	R691S	probably benign	Het
Speg	A	G	1: 75,398,595 (GRCm39)	E2014G	probably damaging	Het
Steap4	A	G	5: 8,025,902 (GRCm39)		probably benign	Het
Tas2r144	G	A	6: 42,192,537 (GRCm39)	M92I	probably benign	Het
Tbc1d5	T	C	17: 51,242,560 (GRCm39)	Q179R	probably benign	Het
Tcf25	T	C	8: 124,115,326 (GRCm39)	Y188H	probably benign	Het
Tmem200a	G	A	10: 25,954,518 (GRCm39)		probably benign	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Tssk5	T	C	15: 76,256,409 (GRCm39)	T337A	probably benign	Het
Ttc23	T	C	7: 67,328,743 (GRCm39)	V228A	probably benign	Het
Tulp1	A	T	17: 28,581,645 (GRCm39)		probably benign	Het
Uqcc3	A	G	19: 8,858,117 (GRCm39)	F25L	probably damaging	Het
Vmn2r1	G	A	3: 63,996,994 (GRCm39)	G217S	probably damaging	Het
Vmn2r120	C	T	17: 57,829,374 (GRCm39)	E508K	probably benign	Het
Wdfy3	C	A	5: 101,991,947 (GRCm39)	V3451L	probably benign	Het
Wdr19	G	A	5: 65,382,033 (GRCm39)	V418I	probably benign	Het
Xirp2	C	T	2: 67,338,383 (GRCm39)	T208I	probably benign	Het
Xpnpep1	A	G	19: 52,980,107 (GRCm39)	V639A	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
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
R8855:Or8b12c	UTSW	9	37,715,709 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGGAGAATAAGTGTAGCCCTTACCG -3'
(R):5'- AACAACTGTGCCATGCACCCTG -3'

Sequencing Primer
(F):5'- AATAAGTGTAGCCCTTACCGTGTTC -3'
(R):5'- AACTCATCAGCATTTTTGGGGAG -3'

Posted On

2014-04-13