Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01772:Coro2b'

153689

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 #

IGL01772

Quality Score

Status

Chromosome

Chromosomal Location

62419492-62537044 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62425808 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 131 (P131T)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048043
AA Change: P432T

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041826
Gene: ENSMUSG00000041729
AA Change: P432T

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 damaging
Transcript: ENSMUST00000131981
AA Change: P131T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133481
Gene: ENSMUSG00000041729
AA Change: P131T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151604

Predicted Effect

probably benign
Transcript: ENSMUST00000164246

SMART Domains

Protein: ENSMUSP00000128441
Gene: ENSMUSG00000041729

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: 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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	T	11: 58,422,884	P113S	probably benign	Het
Ano2	T	C	6: 126,036,858	Y881H	probably damaging	Het
Glra3	A	G	8: 56,089,055	I278V	probably benign	Het
Grin2d	T	C	7: 45,858,466	D392G	probably benign	Het
Ifrd2	A	G	9: 107,592,132	S360G	probably benign	Het
Kdelr3	A	T	15: 79,522,920		probably benign	Het
Mtdh	T	A	15: 34,139,881	S345R	probably damaging	Het
Ncor1	G	A	11: 62,349,347		probably benign	Het
Nf1	T	A	11: 79,390,249	V110D	probably damaging	Het
Nlk	T	A	11: 78,589,375	H256L	probably damaging	Het
Olfr618	T	A	7: 103,597,913	I199N	probably benign	Het
Olfr692	A	T	7: 105,368,434	D36V	probably benign	Het
Olfr894	A	T	9: 38,219,609	Y262F	probably damaging	Het
Pgr	T	C	9: 8,946,636		probably benign	Het
Ptprn	A	G	1: 75,252,270	Y834H	probably damaging	Het
Rbfox3	G	T	11: 118,496,971	A241E	probably damaging	Het
Skiv2l2	A	G	13: 112,891,325	F667S	probably benign	Het
Tarbp1	G	A	8: 126,447,231		probably benign	Het
Ttn	A	T	2: 76,767,711	D19619E	probably damaging	Het
Unc13d	C	A	11: 116,076,532	E45D	possibly damaging	Het
Vil1	A	G	1: 74,415,119	I14V	probably benign	Het

Other mutations in Coro2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01834:Coro2b	APN	9	62431357	missense	possibly damaging	0.93
IGL03242:Coro2b	APN	9	62428961	nonsense	probably null
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

2014-02-04