Mutagenetix > Incidental Mutations

Incidental Mutation 'R6500:Coro2b'

519679

Institutional Source

Beutler Lab

Gene Symbol

Coro2b

Ensembl Gene

ENSMUSG00000041729

Gene Name

coronin, actin binding protein, 2B

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6500 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62419492-62537044 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62489324 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 51 (F51L)

Ref Sequence

ENSEMBL: ENSMUSP00000134709 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048043
AA Change: F45L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000041826
Gene: ENSMUSG00000041729
AA Change: F45L

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

noncoding transcript
Transcript: ENSMUST00000123379

Predicted Effect

probably benign
Transcript: ENSMUST00000164246
AA Change: F40L

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128441
Gene: ENSMUSG00000041729
AA Change: F40L

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
AA Change: F51L

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134709
Gene: ENSMUSG00000041729
AA Change: F51L

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	G	12: 81,559,606	F461L	probably benign	Het
Adamtsl3	C	A	7: 82,578,610	H1334Q	probably benign	Het
Adgrf1	A	G	17: 43,310,372	N500S	probably damaging	Het
Afdn	A	G	17: 13,822,372	D335G	possibly damaging	Het
Arhgap19	G	A	19: 41,786,638	T178M	probably damaging	Het
Chac2	T	C	11: 30,977,625	D86G	probably damaging	Het
Clhc1	T	C	11: 29,560,542	S209P	possibly damaging	Het
Col1a2	G	A	6: 4,515,517	G127S	unknown	Het
Cux2	A	G	5: 121,864,726	S1139P	probably benign	Het
Cyth3	A	T	5: 143,707,840	I379F	probably damaging	Het
Dock2	A	T	11: 34,362,822	L240H	possibly damaging	Het
Ercc6	A	G	14: 32,526,823	K444E	probably damaging	Het
Fam3b	A	G	16: 97,500,901	L52P	possibly damaging	Het
Fat4	T	G	3: 38,981,269	Y3023*	probably null	Het
Gad1	A	T	2: 70,593,436	N396Y	probably damaging	Het
Gbp2b	A	G	3: 142,611,491	E536G	probably benign	Het
Gm11564	G	A	11: 99,815,235	T123I	unknown	Het
Herc2	G	T	7: 56,146,645	E1922*	probably null	Het
Hrh4	G	T	18: 13,022,468	V355F	probably damaging	Het
Isyna1	A	G	8: 70,594,689	I21V	probably damaging	Het
Jak1	T	C	4: 101,181,933	D165G	probably benign	Het
Klhl38	C	A	15: 58,322,413	G307*	probably null	Het
Krt77	T	C	15: 101,864,337	N269S	probably damaging	Het
Lrp4	T	A	2: 91,492,420	I1118N	possibly damaging	Het
Ly6i	T	C	15: 74,981,984	Y30C	probably damaging	Het
Magi2	A	G	5: 20,602,347	E620G	possibly damaging	Het
Mbl2	A	G	19: 30,239,439	D217G	possibly damaging	Het
Mogat2	T	A	7: 99,222,346	I253F	probably benign	Het
Mpp6	A	G	6: 50,198,166	K500E	possibly damaging	Het
Mpped2	T	C	2: 106,861,580	L210P	probably damaging	Het
Nav3	C	A	10: 109,764,756	A1337S	probably damaging	Het
Ncaph2	T	A	15: 89,364,204	V206E	probably benign	Het
Nlgn1	T	C	3: 25,433,930	E747G	possibly damaging	Het
Nlrc3	C	T	16: 3,952,444	G237D	possibly damaging	Het
Nsun7	A	G	5: 66,295,484	D514G	probably benign	Het
Olfr121	C	G	17: 37,752,686	D277E	probably damaging	Het
Pcnx2	C	A	8: 125,753,485	V2028F	probably damaging	Het
Pdx1	G	T	5: 147,270,630	W131L	probably damaging	Het
Pkdrej	C	T	15: 85,819,546	V730I	probably damaging	Het
Plcg1	T	A	2: 160,754,567	Y669N	probably damaging	Het
Plpp1	G	T	13: 112,866,920	W226L	probably damaging	Het
Sfxn1	G	A	13: 54,088,899	V59I	probably benign	Het
Shank1	T	C	7: 44,327,221	I581T	unknown	Het
Slc35f6	A	C	5: 30,656,820	K150N	possibly damaging	Het
Slc5a7	A	T	17: 54,284,203	S234T	probably benign	Het
Smg6	C	T	11: 74,930,505	T534I	possibly damaging	Het
Ush2a	C	T	1: 188,841,527	T3649I	probably benign	Het
Vmn1r158	T	C	7: 22,790,653	T44A	possibly damaging	Het
Vmn1r217	A	T	13: 23,113,903	Y276*	probably null	Het
Vmn2r100	T	A	17: 19,522,093	I243N	probably damaging	Het
Vwde	T	C	6: 13,208,405		probably null	Het
Washc4	C	A	10: 83,558,823	P306T	probably damaging	Het
Wdhd1	C	T	14: 47,250,760		probably null	Het
Xpo6	T	C	7: 126,171,090		probably benign	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
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
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'- TGGACACCGAGATCGAATGG -3'
(R):5'- GTCCAGCTCCTTCATGAAGTAG -3'

Sequencing Primer
(F):5'- AGACAGGTGTGATCCAGTCCTC -3'
(R):5'- GCTCCTTCATGAAGTAGTAGTCAGC -3'

Posted On

2018-06-06