Mutagenetix > Incidental Mutations

Incidental Mutation 'R1115:Coro2b'

97178

Institutional Source

Beutler Lab

Gene Symbol

Coro2b

Ensembl Gene

ENSMUSG00000041729

Gene Name

coronin, actin binding protein, 2B

Synonyms

MMRRC Submission

039188-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62419492-62537044 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 62431327 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 208 (E208A)

Ref Sequence

ENSEMBL: ENSMUSP00000041826 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000048043
AA Change: E208A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041826
Gene: ENSMUSG00000041729
AA Change: E208A

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

possibly damaging
Transcript: ENSMUST00000164246
AA Change: E203A

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128441
Gene: ENSMUSG00000041729
AA Change: E203A

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

possibly damaging
Transcript: ENSMUST00000174439
AA Change: E83A

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134079
Gene: ENSMUSG00000041729
AA Change: E83A

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

Meta Mutation Damage Score

0.5145

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

100% (34/34)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	A	11: 100,479,255	V994F	probably damaging	Het
Arfgap3	T	C	15: 83,330,540	T182A	probably benign	Het
Bcl2l14	T	C	6: 134,432,139		probably benign	Het
Cabin1	T	C	10: 75,717,677	M1183V	possibly damaging	Het
Ccr7	A	T	11: 99,145,277	I273K	possibly damaging	Het
Cd40	A	G	2: 165,070,761	M211V	possibly damaging	Het
Dennd5a	A	C	7: 109,918,761	M556R	probably damaging	Het
Efcab2	A	T	1: 178,437,497		probably benign	Het
Fam160a1	T	C	3: 85,722,495	E263G	probably benign	Het
Fastkd2	T	C	1: 63,747,955		probably benign	Het
Fbxw8	A	C	5: 118,077,571		probably benign	Het
Frem1	T	C	4: 83,020,770	D25G	probably benign	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Ift52	A	G	2: 163,029,782	K178R	probably benign	Het
Kit	T	C	5: 75,649,532		probably benign	Het
Map1a	T	C	2: 121,307,378		probably null	Het
Mxra7	G	T	11: 116,810,870		probably benign	Het
Myt1	C	A	2: 181,811,231	S7*	probably null	Het
Nphs1	C	T	7: 30,481,378		probably benign	Het
Olfr355	C	A	2: 36,927,502	G204V	possibly damaging	Het
Olfr63	C	T	17: 33,268,966	R81*	probably null	Het
Osgin2	A	T	4: 15,998,085	D512E	possibly damaging	Het
Pde4b	T	A	4: 102,542,155		probably benign	Het
Rasef	G	T	4: 73,748,604	T146K	possibly damaging	Het
Ren1	T	A	1: 133,356,518	V207D	probably damaging	Het
S100a8	A	G	3: 90,669,873	D59G	probably damaging	Het
Sdcbp	G	A	4: 6,377,143		probably null	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Slamf7	A	T	1: 171,639,183	D151E	probably benign	Het
Slco1b2	A	G	6: 141,683,254	M561V	probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Stard9	T	C	2: 120,692,850	I662T	probably benign	Het
Vwf	T	A	6: 125,655,065	V20D	unknown	Het
Znhit6	G	T	3: 145,594,685		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCAGCAGGCAGAAGAATCAGTCC -3'
(R):5'- CCACAGCAGCCAGTGACTTTATCC -3'

Sequencing Primer
(F):5'- GGCAGAAGAATCAGTCCCCTTTAG -3'
(R):5'- AGCCAGTGACTTTATCCACTGC -3'

Posted On

2014-01-05