Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03242:Coro2b'

414885

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Coro2b

Ensembl Gene

ENSMUSG00000041729

Gene Name

coronin, actin binding protein, 2B

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL03242

Quality Score

Status

Chromosome

Chromosomal Location

62419492-62537044 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 62428961 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 281 (Y281*)

Ref Sequence

ENSEMBL: ENSMUSP00000128441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048043] [ENSMUST00000164246] [ENSMUST00000173171] [ENSMUST00000174439]

Predicted Effect

probably null
Transcript: ENSMUST00000048043
AA Change: Y286*

SMART Domains

Protein: ENSMUSP00000041826
Gene: ENSMUSG00000041729
AA Change: Y286*

Domain	Start	End	E-Value	Type
DUF1899	10	74	2.89e-31	SMART
WD40	73	116	8.75e-5	SMART
WD40	126	166	4.95e-4	SMART
WD40	169	208	1.33e-4	SMART
WD40	211	254	2.56e1	SMART
DUF1900	261	397	1.62e-84	SMART
coiled coil region	436	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131981

SMART Domains

Protein: ENSMUSP00000133481
Gene: ENSMUSG00000041729

Domain	Start	End	E-Value	Type
DUF1900	3	97	6.37e-42	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151604

Predicted Effect

probably null
Transcript: ENSMUST00000164246
AA Change: Y281*

SMART Domains

Protein: ENSMUSP00000128441
Gene: ENSMUSG00000041729
AA Change: Y281*

Domain	Start	End	E-Value	Type
DUF1899	5	69	2.89e-31	SMART
WD40	68	111	8.75e-5	SMART
WD40	121	161	4.95e-4	SMART
WD40	164	203	1.33e-4	SMART
WD40	206	249	2.56e1	SMART
DUF1900	256	317	5.33e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173171

SMART Domains

Protein: ENSMUSP00000134709
Gene: ENSMUSG00000041729

Domain	Start	End	E-Value	Type
DUF1899	16	80	2.89e-31	SMART
Pfam:WD40	87	121	1.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174439

SMART Domains

Protein: ENSMUSP00000134079
Gene: ENSMUSG00000041729

Domain	Start	End	E-Value	Type
WD40	1	41	4.95e-4	SMART
WD40	44	83	1.33e-4	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout reduces susceptibility to Doxorubicin-induced focal segmental glomerulosclerosis with lower levels of proteinuria and less renal glomerulus damage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,932,545	F575L	possibly damaging	Het
4930562C15Rik	T	C	16: 4,849,325	W221R	unknown	Het
Ank2	A	G	3: 126,928,805	F1000L	possibly damaging	Het
Bahcc1	T	C	11: 120,268,300		probably benign	Het
BC024139	T	C	15: 76,120,320	M679V	probably benign	Het
BC027072	A	G	17: 71,750,271	S804P	probably benign	Het
Carmil2	A	G	8: 105,691,320		probably benign	Het
Catsperg2	A	G	7: 29,725,479		probably benign	Het
Chrnb4	A	T	9: 55,035,528	I154K	probably damaging	Het
Clec2e	A	C	6: 129,095,026	L130W	probably damaging	Het
Dlk2	A	G	17: 46,302,977	Y386C	probably benign	Het
Dnah7a	A	T	1: 53,620,723	F709I	probably benign	Het
Exoc1	T	C	5: 76,559,007	L467P	probably damaging	Het
Fkbp2	A	G	19: 6,978,612	V75A	probably benign	Het
Glud1	T	C	14: 34,334,280	F304L	probably benign	Het
Gm11639	A	C	11: 105,106,404	E140A	probably damaging	Het
Gsr	T	A	8: 33,685,599	V291E	probably benign	Het
Kap	A	G	6: 133,851,800		probably benign	Het
Kmt2a	G	T	9: 44,848,392	T720N	probably damaging	Het
Lrrtm4	T	C	6: 80,022,088	I161T	probably benign	Het
Lyst	T	A	13: 13,656,881	L1630*	probably null	Het
Med13l	A	G	5: 118,747,445	S1488G	probably benign	Het
Mlxip	A	G	5: 123,440,061	K147E	probably damaging	Het
Nalcn	T	C	14: 123,321,487	E810G	possibly damaging	Het
Olfr474	T	C	7: 107,955,481	V280A	possibly damaging	Het
Olfr683	G	A	7: 105,144,266	S15F	probably benign	Het
Olfr710	A	G	7: 106,944,918	F28L	possibly damaging	Het
Piezo2	T	C	18: 63,011,538		probably benign	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Serpina3j	G	A	12: 104,319,701	A372T	possibly damaging	Het
Slc28a3	G	A	13: 58,574,249	Q274*	probably null	Het
Ssfa2	C	T	2: 79,643,471	R189*	probably null	Het
Stk36	T	C	1: 74,623,352	F543S	possibly damaging	Het
Tfrc	T	C	16: 32,630,112	S690P	probably damaging	Het
Tg	C	A	15: 66,683,798	Q780K	probably damaging	Het
Top1	T	A	2: 160,715,733	H578Q	probably damaging	Het
Treh	A	G	9: 44,685,337	T463A	possibly damaging	Het
Treml1	G	A	17: 48,365,988		probably benign	Het
Trpm2	A	G	10: 77,917,734	V1312A	probably benign	Het
Ttc41	T	A	10: 86,776,819	*1319K	probably null	Het
Tulp2	A	G	7: 45,521,858	I354M	probably damaging	Het
Ugt2b35	T	C	5: 87,007,395	L363P	probably damaging	Het
Usp13	A	T	3: 32,902,069	M496L	probably benign	Het
Virma	T	C	4: 11,527,669	S1187P	possibly damaging	Het
Wdr76	T	A	2: 121,542,470	C593S	probably damaging	Het
Zfp446	G	A	7: 12,979,325	A97T	probably damaging	Het

Other mutations in Coro2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01772:Coro2b	APN	9	62425808	missense	probably damaging	0.99
IGL01834:Coro2b	APN	9	62431357	missense	possibly damaging	0.93
PIT4151001:Coro2b	UTSW	9	62429004	missense	probably damaging	1.00
R0422:Coro2b	UTSW	9	62427977	missense	probably benign	0.00
R0835:Coro2b	UTSW	9	62425837	missense	possibly damaging	0.68
R0944:Coro2b	UTSW	9	62427981	missense	probably benign	0.08
R1115:Coro2b	UTSW	9	62431327	missense	probably damaging	0.96
R1254:Coro2b	UTSW	9	62428965	missense	probably damaging	0.98
R1422:Coro2b	UTSW	9	62428947	critical splice donor site	probably null
R1532:Coro2b	UTSW	9	62489423	missense	probably damaging	1.00
R1543:Coro2b	UTSW	9	62425841	missense	probably benign	0.32
R3424:Coro2b	UTSW	9	62429308	splice site	probably null
R3971:Coro2b	UTSW	9	62429240	missense	possibly damaging	0.55
R3972:Coro2b	UTSW	9	62429240	missense	possibly damaging	0.55
R4035:Coro2b	UTSW	9	62425789	unclassified	probably benign
R4233:Coro2b	UTSW	9	62426185	missense	possibly damaging	0.69
R4734:Coro2b	UTSW	9	62426578	missense	probably benign	0.02
R4825:Coro2b	UTSW	9	62454623	missense	probably benign	0.30
R5332:Coro2b	UTSW	9	62429230	missense	probably damaging	0.97
R5702:Coro2b	UTSW	9	62426577	missense	probably damaging	0.97
R6474:Coro2b	UTSW	9	62426628	missense	probably benign	0.16
R6500:Coro2b	UTSW	9	62489324	missense	probably benign	0.24
R6674:Coro2b	UTSW	9	62432427	missense	probably damaging	1.00
R7102:Coro2b	UTSW	9	62421385	missense	possibly damaging	0.81
R7347:Coro2b	UTSW	9	62489372	missense	probably benign
R8199:Coro2b	UTSW	9	62429020	missense	probably benign	0.00
R8447:Coro2b	UTSW	9	62426560	missense	probably damaging	1.00

Posted On

2016-08-02