Mutagenetix > Incidental Mutation

Incidental Mutation 'R0377:Or8k33'

30783

Institutional Source

Beutler Lab

Gene Symbol

Or8k33

Ensembl Gene

ENSMUSG00000110912

Gene Name

olfactory receptor family 8 subfamily K member 33

Synonyms

GA_x6K02T2Q125-48039418-48038477, MOR192-1, Olfr1080

MMRRC Submission

038583-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R0377 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86383525-86388482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86383927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 180 (D180E)

Ref Sequence

ENSEMBL: ENSMUSP00000150502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000213185]

AlphaFold

Q7TR67

Predicted Effect

probably damaging
Transcript: ENSMUST00000099881
AA Change: D180E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097466
Gene: ENSMUSG00000075178
AA Change: D180E

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	1.5e-30	PFAM
Pfam:7tm_4	139	283	1.4e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111580
AA Change: D180E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107206
Gene: ENSMUSG00000075178
AA Change: D180E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	9.1e-48	PFAM
Pfam:7tm_1	41	290	7.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213185
AA Change: D180E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

97% (67/69)

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
Abcc3	C	A	11: 94,265,922 (GRCm39)	V107F	possibly damaging	Het
Acad11	T	A	9: 103,958,891 (GRCm39)		probably benign	Het
Ache	G	A	5: 137,289,190 (GRCm39)	E299K	possibly damaging	Het
Adam5	T	C	8: 25,237,557 (GRCm39)	T618A	probably benign	Het
Amigo2	T	A	15: 97,144,261 (GRCm39)	T54S	possibly damaging	Het
Anapc1	A	G	2: 128,483,260 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,966,402 (GRCm39)	K1057E	probably benign	Het
Cep55	T	A	19: 38,060,337 (GRCm39)	L396*	probably null	Het
Cic	C	A	7: 24,985,224 (GRCm39)	H1157N	probably damaging	Het
Cntnap5a	A	T	1: 116,220,259 (GRCm39)	T690S	probably benign	Het
D5Ertd579e	A	T	5: 36,761,911 (GRCm39)	C1319S	probably benign	Het
Dnah6	A	G	6: 73,098,975 (GRCm39)	S2027P	possibly damaging	Het
Dnai4	A	G	4: 102,905,456 (GRCm39)	V775A	probably damaging	Het
Dntt	G	A	19: 41,036,066 (GRCm39)	W369*	probably null	Het
Esp18	T	A	17: 39,720,835 (GRCm39)	W27R	probably benign	Het
Fam227b	A	T	2: 125,966,920 (GRCm39)		probably benign	Het
Fbxo31	G	A	8: 122,285,841 (GRCm39)		probably benign	Het
Gm13547	G	A	2: 29,651,803 (GRCm39)		probably null	Het
Gnl2	T	A	4: 124,940,175 (GRCm39)		probably benign	Het
Gpx2	G	A	12: 76,841,930 (GRCm39)	Q74*	probably null	Het
Gucy2c	A	G	6: 136,727,915 (GRCm39)		probably null	Het
Hoxa5	A	T	6: 52,179,626 (GRCm39)	W250R	probably damaging	Het
Izumo4	G	A	10: 80,538,674 (GRCm39)	R42H	probably damaging	Het
Kcnj12	G	A	11: 60,960,222 (GRCm39)	M71I	probably benign	Het
Kmt2b	A	T	7: 30,273,618 (GRCm39)	L2333Q	probably damaging	Het
Mak	T	C	13: 41,202,824 (GRCm39)	E177G	probably damaging	Het
Map3k7	T	A	4: 31,985,731 (GRCm39)	I218N	probably damaging	Het
Mark3	T	C	12: 111,595,463 (GRCm39)	L393P	probably damaging	Het
Msh4	A	G	3: 153,602,527 (GRCm39)	S234P	probably benign	Het
Mug1	A	G	6: 121,834,320 (GRCm39)	D367G	probably benign	Het
Mypn	A	G	10: 62,963,401 (GRCm39)		probably benign	Het
Ncapg	T	C	5: 45,851,159 (GRCm39)	V784A	probably benign	Het
Nutf2	T	A	8: 106,605,504 (GRCm39)	V113D	probably damaging	Het
Odad2	G	A	18: 7,127,415 (GRCm39)	R933C	probably benign	Het
Opn3	T	C	1: 175,491,260 (GRCm39)	M258V	probably damaging	Het
Osbpl7	A	G	11: 96,946,760 (GRCm39)	D211G	probably damaging	Het
Pcnx1	C	T	12: 82,021,353 (GRCm39)		probably benign	Het
Plekhd1	G	A	12: 80,753,210 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,591,501 (GRCm39)	E1165G	probably damaging	Het
Prkab2	T	A	3: 97,569,633 (GRCm39)	D66E	probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Ptpn23	A	T	9: 110,217,200 (GRCm39)	S885R	possibly damaging	Het
Rab26	A	T	17: 24,749,019 (GRCm39)		probably benign	Het
Rab5a	G	A	17: 53,807,490 (GRCm39)	M175I	probably benign	Het
Rassf9	T	A	10: 102,381,510 (GRCm39)	D297E	probably benign	Het
Rimbp2	C	T	5: 128,880,925 (GRCm39)	R161Q	probably damaging	Het
Rtp1	A	G	16: 23,250,034 (GRCm39)	Y133C	probably damaging	Het
Sdr16c5	G	A	4: 4,005,546 (GRCm39)	L263F	probably benign	Het
Sec14l1	T	G	11: 117,039,966 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,044,267 (GRCm39)		probably null	Het
Stk36	C	T	1: 74,651,889 (GRCm39)	P394L	probably benign	Het
Stk4	T	C	2: 163,938,720 (GRCm39)	I196T	probably damaging	Het
Sult1b1	A	T	5: 87,665,235 (GRCm39)	M233K	probably damaging	Het
Tmem8b	C	T	4: 43,674,005 (GRCm39)	T212M	probably damaging	Het
Tmprss11g	A	T	5: 86,638,610 (GRCm39)	F293I	probably damaging	Het
Tnfsf11	T	G	14: 78,537,352 (GRCm39)	T104P	probably benign	Het
Trmt2a	G	A	16: 18,067,567 (GRCm39)	R80Q	possibly damaging	Het
Trps1	C	A	15: 50,695,174 (GRCm39)	E324*	probably null	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Wdr18	G	A	10: 79,803,336 (GRCm39)	R400H	probably benign	Het
Zfp119b	T	A	17: 56,245,671 (GRCm39)	H505L	probably damaging	Het
Zfp619	T	A	7: 39,186,221 (GRCm39)	C750*	probably null	Het
Zfr	T	C	15: 12,160,677 (GRCm39)	I750T	probably benign	Het

Other mutations in Or8k33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01937:Or8k33	APN	2	86,383,793 (GRCm39)	missense	probably benign	0.34
IGL02169:Or8k33	APN	2	86,384,226 (GRCm39)	missense	probably benign	0.39
IGL02234:Or8k33	APN	2	86,383,610 (GRCm39)	missense	probably damaging	1.00
IGL02530:Or8k33	APN	2	86,384,224 (GRCm39)	missense	possibly damaging	0.60
R0046:Or8k33	UTSW	2	86,383,976 (GRCm39)	missense	probably damaging	1.00
R0360:Or8k33	UTSW	2	86,384,123 (GRCm39)	missense	probably damaging	1.00
R0364:Or8k33	UTSW	2	86,384,123 (GRCm39)	missense	probably damaging	1.00
R1496:Or8k33	UTSW	2	86,384,096 (GRCm39)	missense	probably damaging	1.00
R1609:Or8k33	UTSW	2	86,383,949 (GRCm39)	missense	probably damaging	1.00
R1674:Or8k33	UTSW	2	86,384,204 (GRCm39)	missense	probably damaging	0.96
R1816:Or8k33	UTSW	2	86,384,011 (GRCm39)	nonsense	probably null
R2870:Or8k33	UTSW	2	86,383,928 (GRCm39)	missense	possibly damaging	0.95
R2870:Or8k33	UTSW	2	86,383,928 (GRCm39)	missense	possibly damaging	0.95
R4387:Or8k33	UTSW	2	86,384,298 (GRCm39)	missense	probably damaging	1.00
R4915:Or8k33	UTSW	2	86,384,399 (GRCm39)	missense	probably damaging	1.00
R4924:Or8k33	UTSW	2	86,383,853 (GRCm39)	missense	probably damaging	1.00
R4987:Or8k33	UTSW	2	86,383,579 (GRCm39)	splice site	probably null	0.10
R5774:Or8k33	UTSW	2	86,384,351 (GRCm39)	missense	possibly damaging	0.68
R6305:Or8k33	UTSW	2	86,383,839 (GRCm39)	missense	possibly damaging	0.91
R6829:Or8k33	UTSW	2	86,383,613 (GRCm39)	nonsense	probably null
R7152:Or8k33	UTSW	2	86,383,673 (GRCm39)	missense	probably benign	0.14
R7561:Or8k33	UTSW	2	86,383,661 (GRCm39)	missense	probably benign	0.45
R7963:Or8k33	UTSW	2	86,383,639 (GRCm39)	missense	possibly damaging	0.86
R8031:Or8k33	UTSW	2	86,384,447 (GRCm39)	missense	probably damaging	1.00
R8177:Or8k33	UTSW	2	86,383,623 (GRCm39)	missense	noncoding transcript
R8349:Or8k33	UTSW	2	86,383,980 (GRCm39)	missense	probably benign	0.22
R8449:Or8k33	UTSW	2	86,383,980 (GRCm39)	missense	probably benign	0.22
R8490:Or8k33	UTSW	2	86,384,027 (GRCm39)	missense	probably benign	0.06
R8787:Or8k33	UTSW	2	86,384,297 (GRCm39)	missense	probably damaging	1.00
R8801:Or8k33	UTSW	2	86,383,727 (GRCm39)	missense	probably benign	0.22
R8808:Or8k33	UTSW	2	86,384,297 (GRCm39)	missense	probably damaging	1.00
R9035:Or8k33	UTSW	2	86,384,021 (GRCm39)	missense	probably damaging	0.98
R9301:Or8k33	UTSW	2	86,383,818 (GRCm39)	missense	possibly damaging	0.91
Z1088:Or8k33	UTSW	2	86,384,310 (GRCm39)	missense	probably benign	0.40
Z1191:Or8k33	UTSW	2	86,384,471 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGCAGAGTTCATCCTGAGAACAGC -3'
(R):5'- AATGTAGACGCCAAGCTACAGACG -3'

Sequencing Primer
(F):5'- TCATCCTGAGAACAGCTATGAG -3'
(R):5'- GCAATGTCCTATGACCGCTATG -3'

Posted On

2013-04-24