Mutagenetix > Incidental Mutation

Incidental Mutation 'R0136:Or8b57'

21959

Institutional Source

Beutler Lab

Gene Symbol

Or8b57

Ensembl Gene

ENSMUSG00000044205

Gene Name

olfactory receptor family 8 subfamily B member 57

Synonyms

MOR162-1, GA_x6K02T2PVTD-33790948-33790013, Olfr983

MMRRC Submission

038421-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R0136 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

40003313-40004854 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 40003315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 312 (*312Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050996] [ENSMUST00000213087] [ENSMUST00000213858] [ENSMUST00000214856] [ENSMUST00000217536]

AlphaFold

Q8VG90

Predicted Effect

probably null
Transcript: ENSMUST00000050996
AA Change: *316Q

SMART Domains

Protein: ENSMUSP00000083206
Gene: ENSMUSG00000044205
AA Change: *316Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	311	2e-48	PFAM
Pfam:7TM_GPCR_Srsx	39	307	3.1e-5	PFAM
Pfam:7tm_1	45	293	1.4e-22	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000213087
AA Change: *312Q

Predicted Effect

probably benign
Transcript: ENSMUST00000213858

Predicted Effect

probably benign
Transcript: ENSMUST00000214856

Predicted Effect

probably benign
Transcript: ENSMUST00000217536

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

89% (56/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4b1	T	C	3: 103,717,262 (GRCm39)	M1T	probably null	Het
Arg2	T	C	12: 79,196,780 (GRCm39)	L167P	probably damaging	Het
Atxn1	A	G	13: 45,720,645 (GRCm39)	S417P	probably damaging	Het
Baz2b	A	G	2: 59,732,298 (GRCm39)	V1949A	probably benign	Het
Bcl3	A	G	7: 19,543,494 (GRCm39)	V324A	probably damaging	Het
Btbd10	A	T	7: 112,929,085 (GRCm39)	S230T	possibly damaging	Het
Camta1	A	G	4: 151,163,426 (GRCm39)	S1479P	probably damaging	Het
Cd69	C	T	6: 129,247,025 (GRCm39)	S64N	probably benign	Het
Col5a1	T	C	2: 27,914,843 (GRCm39)	L153P	probably damaging	Het
Crat	C	A	2: 30,297,042 (GRCm39)	V304L	probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Fau	T	C	19: 6,109,210 (GRCm39)	V86A	possibly damaging	Het
Garem1	T	G	18: 21,263,048 (GRCm39)	S589R	probably damaging	Het
Gbp3	T	G	3: 142,269,862 (GRCm39)		probably null	Het
Gin1	T	A	1: 97,710,741 (GRCm39)	S141R	possibly damaging	Het
Gtf2h1	A	T	7: 46,464,840 (GRCm39)	Q419L	possibly damaging	Het
Hipk3	A	G	2: 104,269,638 (GRCm39)	I517T	probably benign	Het
Hivep2	T	C	10: 14,007,622 (GRCm39)	S1407P	probably benign	Het
Hnrnpk	G	T	13: 58,542,991 (GRCm39)	D211E	probably benign	Het
Hnrnpul2	T	C	19: 8,804,165 (GRCm39)	L588P	probably damaging	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Itgb1	T	G	8: 129,449,335 (GRCm39)	Y585D	possibly damaging	Het
Kmt2d	C	T	15: 98,752,159 (GRCm39)		probably benign	Het
Map7d1	A	T	4: 126,130,424 (GRCm39)		probably null	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Med13l	A	G	5: 118,862,115 (GRCm39)	T353A	probably benign	Het
Mgat4b	T	C	11: 50,121,908 (GRCm39)	V143A	possibly damaging	Het
Mlxip	T	A	5: 123,580,369 (GRCm39)	W211R	probably damaging	Het
Morc2a	T	G	11: 3,635,907 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Ndufa10	A	T	1: 92,390,850 (GRCm39)	Y233*	probably null	Het
Nek8	C	T	11: 78,062,033 (GRCm39)	S237N	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfatc2ip	A	G	7: 125,990,507 (GRCm39)	S165P	probably benign	Het
Nsd2	A	G	5: 34,012,880 (GRCm39)	K404E	possibly damaging	Het
Nsd3	G	T	8: 26,149,870 (GRCm39)	E352*	probably null	Het
Nudt9	A	G	5: 104,194,972 (GRCm39)	T23A	probably benign	Het
Or1e34	T	C	11: 73,778,611 (GRCm39)	M196V	probably benign	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Patj	C	A	4: 98,555,885 (GRCm39)	Q297K	probably damaging	Het
Pelo	A	T	13: 115,225,439 (GRCm39)	C40*	probably null	Het
Pnpla3	G	A	15: 84,058,679 (GRCm39)		probably null	Het
Pramel1	C	A	4: 143,124,016 (GRCm39)	N230K	probably damaging	Het
Psg20	A	C	7: 18,416,432 (GRCm39)	L228R	probably damaging	Het
Rsph10b	T	C	5: 143,896,639 (GRCm39)	F44L	probably benign	Het
Septin2	G	A	1: 93,434,772 (GRCm39)	G358R	possibly damaging	Het
Slamf7	G	A	1: 171,476,499 (GRCm39)		probably benign	Het
Slc12a8	A	G	16: 33,428,583 (GRCm39)	D297G	probably damaging	Het
Slc17a5	G	A	9: 78,485,956 (GRCm39)	A43V	probably damaging	Het
Slc22a1	A	T	17: 12,881,483 (GRCm39)	F335L	probably benign	Het
Slc26a5	T	C	5: 22,039,345 (GRCm39)	N216S	probably damaging	Het
Snrnp27	T	C	6: 86,653,187 (GRCm39)	S144G	probably benign	Het
Spata20	T	A	11: 94,371,435 (GRCm39)	D643V	probably damaging	Het
Spata24	T	C	18: 35,793,515 (GRCm39)	K99R	probably damaging	Het
Taar5	A	G	10: 23,847,607 (GRCm39)	Y335C	probably damaging	Het
Tpr	A	G	1: 150,306,346 (GRCm39)	H1540R	probably benign	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Vmn2r37	A	T	7: 9,220,782 (GRCm39)	Y360*	probably null	Het
Ybx1	C	A	4: 119,139,551 (GRCm39)	R36L	possibly damaging	Het
Zfp369	A	G	13: 65,445,016 (GRCm39)	K720E	probably benign	Het
Zfp599	A	G	9: 22,161,038 (GRCm39)	S376P	probably benign	Het
Zic2	A	G	14: 122,713,953 (GRCm39)	E289G	probably damaging	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	Het

Other mutations in Or8b57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Or8b57	APN	9	40,004,029 (GRCm39)	missense	probably damaging	1.00
IGL01329:Or8b57	APN	9	40,003,324 (GRCm39)	missense	possibly damaging	0.90
IGL01892:Or8b57	APN	9	40,004,114 (GRCm39)	missense	probably damaging	1.00
IGL02712:Or8b57	APN	9	40,004,082 (GRCm39)	missense	probably damaging	0.99
R0025:Or8b57	UTSW	9	40,003,549 (GRCm39)	missense	probably damaging	1.00
R0066:Or8b57	UTSW	9	40,003,983 (GRCm39)	missense	possibly damaging	0.74
R0715:Or8b57	UTSW	9	40,003,807 (GRCm39)	missense	probably damaging	1.00
R2345:Or8b57	UTSW	9	40,003,849 (GRCm39)	missense	probably benign	0.09
R3432:Or8b57	UTSW	9	40,003,845 (GRCm39)	missense	probably damaging	1.00
R5027:Or8b57	UTSW	9	40,003,690 (GRCm39)	missense	probably damaging	1.00
R6874:Or8b57	UTSW	9	40,004,022 (GRCm39)	missense	probably benign	0.22
R7818:Or8b57	UTSW	9	40,004,008 (GRCm39)	missense	probably damaging	1.00
R7823:Or8b57	UTSW	9	40,003,644 (GRCm39)	missense	probably damaging	1.00
R8304:Or8b57	UTSW	9	40,003,650 (GRCm39)	missense	probably damaging	1.00
R8337:Or8b57	UTSW	9	40,003,695 (GRCm39)	missense	probably benign	0.00
R9276:Or8b57	UTSW	9	40,003,632 (GRCm39)	missense	possibly damaging	0.88
R9318:Or8b57	UTSW	9	40,004,112 (GRCm39)	missense	possibly damaging	0.81
R9631:Or8b57	UTSW	9	40,004,223 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCAAAATGACAAGATGCTTCTGCCC -3'
(R):5'- GCAGCTCTCACATGATTGCTGTTTC -3'

Sequencing Primer
(F):5'- TGACAGTCAGTTATCCCATGACAG -3'
(R):5'- GCTGTTTCTCTGTTTTTTGGATCATC -3'

Posted On

2013-04-12