Mutagenetix > Incidental Mutation

Incidental Mutation 'R7334:Or8b12b'

569377

Institutional Source

Beutler Lab

Gene Symbol

Or8b12b

Ensembl Gene

ENSMUSG00000058628

Gene Name

olfactory receptor family 8 subfamily B member 12B

Synonyms

GA_x6K02T2PVTD-31458511-31459443, Olfr875, MOR161-4

MMRRC Submission

045371-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R7334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37683933-37684936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37684293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 113 (I113F)

Ref Sequence

ENSEMBL: ENSMUSP00000150684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080634] [ENSMUST00000215128]

AlphaFold

Q7TRE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000080634
AA Change: I113F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079467
Gene: ENSMUSG00000058628
AA Change: I113F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1.1e-48	PFAM
Pfam:7tm_1	40	289	1.8e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215128
AA Change: I113F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (75/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,776,380 (GRCm39)	C184S	probably damaging	Het
Acadm	G	T	3: 153,644,698 (GRCm39)	S9*	probably null	Het
Acot10	C	T	15: 20,665,629 (GRCm39)	V371I	possibly damaging	Het
Adam8	T	C	7: 139,568,903 (GRCm39)	E199G	probably damaging	Het
Aldh18a1	A	T	19: 40,539,696 (GRCm39)	W762R	probably damaging	Het
Aldh1a1	T	A	19: 20,599,075 (GRCm39)	V162E	probably damaging	Het
Alms1	A	G	6: 85,618,432 (GRCm39)	D2357G	probably damaging	Het
Arfgef1	G	T	1: 10,254,685 (GRCm39)	Q718K	probably damaging	Het
Arid5b	A	C	10: 68,079,007 (GRCm39)	V110G	possibly damaging	Het
Bpifb3	T	A	2: 153,761,654 (GRCm39)	D34E	probably damaging	Het
Cacfd1	C	T	2: 26,905,558 (GRCm39)	A85V	possibly damaging	Het
Cep57l1	C	A	10: 41,597,596 (GRCm39)	S345I	probably benign	Het
Cibar2	T	C	8: 120,901,589 (GRCm39)	T39A	probably damaging	Het
Clca3b	G	A	3: 144,542,417 (GRCm39)	R462*	probably null	Het
Cyp26c1	G	A	19: 37,677,323 (GRCm39)	V251I	probably benign	Het
Dip2a	A	G	10: 76,110,080 (GRCm39)	S1179P	possibly damaging	Het
Dnal1	T	C	12: 84,173,780 (GRCm39)	L27P	probably damaging	Het
Dock7	A	G	4: 98,864,180 (GRCm39)	V1288A	unknown	Het
Elmod1	A	T	9: 53,841,508 (GRCm39)		probably null	Het
Epb41l5	T	G	1: 119,551,679 (GRCm39)	K102T	probably damaging	Het
Fermt3	T	C	19: 6,980,406 (GRCm39)	I358V	probably benign	Het
Frmd3	A	G	4: 74,079,955 (GRCm39)	I316V	probably benign	Het
Fryl	T	C	5: 73,204,839 (GRCm39)		probably null	Het
Gm4131	T	A	14: 62,702,356 (GRCm39)	H204L	possibly damaging	Het
Hmcn2	G	A	2: 31,325,806 (GRCm39)	G4278R	probably damaging	Het
Hmcn2	A	G	2: 31,343,147 (GRCm39)	S4558G	possibly damaging	Het
Igkv1-132	A	G	6: 67,737,108 (GRCm39)	T25A	probably benign	Het
Kcp	T	C	6: 29,485,511 (GRCm39)	E1161G	probably damaging	Het
Macf1	A	T	4: 123,293,235 (GRCm39)	I5371K	probably damaging	Het
Malrd1	T	A	2: 16,011,529 (GRCm39)	C1670S	probably damaging	Het
Mfsd13a	T	A	19: 46,356,809 (GRCm39)	V270E	probably damaging	Het
Mroh1	A	G	15: 76,311,838 (GRCm39)	I524V	probably benign	Het
Mta1	T	C	12: 113,090,418 (GRCm39)	S175P	possibly damaging	Het
Myo7a	C	T	7: 97,728,573 (GRCm39)	R800H	probably benign	Het
Ncald	T	A	15: 37,397,524 (GRCm39)	Y52F	probably damaging	Het
Nherf1	C	T	11: 115,054,593 (GRCm39)	A81V	possibly damaging	Het
Nomo1	T	C	7: 45,732,692 (GRCm39)	S1152P	probably damaging	Het
Nr3c1	A	G	18: 39,620,090 (GRCm39)	F66L	probably benign	Het
Nrf1	T	C	6: 30,118,970 (GRCm39)	L363S	probably benign	Het
Or4n4	C	A	14: 50,519,036 (GRCm39)	V225F	probably benign	Het
Osbpl3	A	G	6: 50,321,886 (GRCm39)	M300T	possibly damaging	Het
Parpbp	T	A	10: 87,947,617 (GRCm39)	N339I	probably damaging	Het
Pdlim5	A	T	3: 141,950,678 (GRCm39)	H578Q	probably damaging	Het
Pear1	T	C	3: 87,657,532 (GRCm39)	N1009S	probably damaging	Het
Pnpla8	A	G	12: 44,358,286 (GRCm39)	I745M	probably damaging	Het
Pom121l12	C	A	11: 14,549,681 (GRCm39)	T129K	probably damaging	Het
Ppp1r14a	T	C	7: 28,992,687 (GRCm39)	S130P	probably damaging	Het
Prss12	A	C	3: 123,280,780 (GRCm39)	L488F	probably benign	Het
Psd3	C	T	8: 68,361,357 (GRCm39)	V559I	possibly damaging	Het
Rrh	T	C	3: 129,602,631 (GRCm39)	T364A	probably benign	Het
Shcbp1	A	T	8: 4,791,876 (GRCm39)	M479K	probably damaging	Het
Shcbp1	A	C	8: 4,804,310 (GRCm39)	F200C	probably damaging	Het
Slx1b	G	T	7: 126,291,699 (GRCm39)	R122S	probably damaging	Het
Spata31f1e	G	A	4: 42,793,856 (GRCm39)	T92I	possibly damaging	Het
Spidr	A	G	16: 15,932,689 (GRCm39)		probably null	Het
St18	G	A	1: 6,872,783 (GRCm39)	D173N	probably benign	Het
Stambpl1	T	C	19: 34,204,048 (GRCm39)	I46T	probably damaging	Het
Syne1	C	T	10: 5,007,886 (GRCm39)	D113N	probably damaging	Het
Tg	G	A	15: 66,597,121 (GRCm39)	V1741I	probably benign	Het
Thsd7b	T	A	1: 130,123,012 (GRCm39)	W1544R	probably benign	Het
Tiam2	G	A	17: 3,553,283 (GRCm39)	R1120H	possibly damaging	Het
Tinag	A	T	9: 76,908,931 (GRCm39)	C337S	probably damaging	Het
Tm4sf1	G	C	3: 57,200,510 (GRCm39)	A64G	probably damaging	Het
Tmprss6	A	G	15: 78,328,017 (GRCm39)	Y572H	unknown	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Txndc11	A	G	16: 10,946,425 (GRCm39)	Y129H	probably damaging	Het
Ube3b	T	C	5: 114,553,742 (GRCm39)	F974S	possibly damaging	Het
Utrn	C	A	10: 12,603,753 (GRCm39)		probably null	Het
Vmn1r58	T	A	7: 5,414,066 (GRCm39)	M55L	probably benign	Het
Vnn1	T	A	10: 23,776,658 (GRCm39)	S336R	probably benign	Het
Wwc2	T	C	8: 48,322,829 (GRCm39)	Y424C	unknown	Het
Zfp507	T	C	7: 35,475,505 (GRCm39)	I903V	probably damaging	Het
Zfp551	C	T	7: 12,150,681 (GRCm39)	G243R	probably damaging	Het
Zfp60	T	A	7: 27,448,444 (GRCm39)	C371S	probably damaging	Het

Other mutations in Or8b12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01909:Or8b12b	APN	9	37,684,159 (GRCm39)	missense	possibly damaging	0.95
IGL02013:Or8b12b	APN	9	37,684,185 (GRCm39)	missense	probably benign	0.00
IGL02162:Or8b12b	APN	9	37,684,227 (GRCm39)	missense	probably benign	0.13
IGL02966:Or8b12b	APN	9	37,684,882 (GRCm39)	missense	probably benign	0.28
R0017:Or8b12b	UTSW	9	37,684,274 (GRCm39)	missense	probably benign	0.08
R0520:Or8b12b	UTSW	9	37,684,849 (GRCm39)	missense	probably benign	0.00
R0553:Or8b12b	UTSW	9	37,684,627 (GRCm39)	missense	probably benign	0.05
R0833:Or8b12b	UTSW	9	37,684,372 (GRCm39)	missense	probably benign	0.03
R1316:Or8b12b	UTSW	9	37,684,039 (GRCm39)	missense	possibly damaging	0.94
R1547:Or8b12b	UTSW	9	37,683,960 (GRCm39)	missense	probably benign	0.00
R1888:Or8b12b	UTSW	9	37,684,163 (GRCm39)	missense	possibly damaging	0.88
R1888:Or8b12b	UTSW	9	37,684,163 (GRCm39)	missense	possibly damaging	0.88
R1891:Or8b12b	UTSW	9	37,684,163 (GRCm39)	missense	possibly damaging	0.88
R1894:Or8b12b	UTSW	9	37,684,163 (GRCm39)	missense	possibly damaging	0.88
R3055:Or8b12b	UTSW	9	37,684,489 (GRCm39)	missense	probably damaging	1.00
R4816:Or8b12b	UTSW	9	37,684,726 (GRCm39)	missense	possibly damaging	0.72
R4829:Or8b12b	UTSW	9	37,684,243 (GRCm39)	missense	probably damaging	1.00
R4952:Or8b12b	UTSW	9	37,684,360 (GRCm39)	missense	probably damaging	0.99
R6111:Or8b12b	UTSW	9	37,684,228 (GRCm39)	missense	probably damaging	0.99
R6838:Or8b12b	UTSW	9	37,684,348 (GRCm39)	missense	possibly damaging	0.87
R7101:Or8b12b	UTSW	9	37,684,287 (GRCm39)	missense	probably damaging	0.99
R7104:Or8b12b	UTSW	9	37,684,437 (GRCm39)	missense	possibly damaging	0.64
R7224:Or8b12b	UTSW	9	37,684,711 (GRCm39)	missense	possibly damaging	0.95
R7582:Or8b12b	UTSW	9	37,684,117 (GRCm39)	missense	probably damaging	1.00
R7909:Or8b12b	UTSW	9	37,684,033 (GRCm39)	missense	probably damaging	1.00
R8498:Or8b12b	UTSW	9	37,684,560 (GRCm39)	missense	probably damaging	1.00
R9158:Or8b12b	UTSW	9	37,684,800 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGCTGAACTCTCACCTTC -3'
(R):5'- GTGTTGCTACAGGAGAGCTC -3'

Sequencing Primer
(F):5'- GGGCTGAACTCTCACCTTCATACC -3'
(R):5'- TGATGAGGTTGTCAGCACAG -3'

Posted On

2019-09-13