Mutagenetix > Incidental Mutations

Incidental Mutation 'R0944:Coro2b'

82012

Institutional Source

Beutler Lab

Gene Symbol

Coro2b

Ensembl Gene

ENSMUSG00000041729

Gene Name

coronin, actin binding protein, 2B

Synonyms

MMRRC Submission

039083-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62419492-62537044 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62427981 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 308 (S308G)

Ref Sequence

ENSEMBL: ENSMUSP00000041826 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048043
AA Change: S308G

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000041826
Gene: ENSMUSG00000041729
AA Change: S308G

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

unknown
Transcript: ENSMUST00000131981
AA Change: S7G

SMART Domains

Protein: ENSMUSP00000133481
Gene: ENSMUSG00000041729
AA Change: S7G

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
AA Change: S303G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000128441
Gene: ENSMUSG00000041729
AA Change: S303G

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

Meta Mutation Damage Score

0.0775

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.3%
20x: 94.3%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110018I06Rik	G	A	12: 107,489,009	R118K	unknown	Het
Abcc6	T	A	7: 46,015,505	I301F	possibly damaging	Het
Akap9	C	A	5: 4,064,742		probably null	Het
Alg6	A	G	4: 99,762,060	I506V	probably benign	Het
B3gat1	C	T	9: 26,756,941	R276C	probably damaging	Het
Camk1	A	G	6: 113,338,391	Y105H	probably damaging	Het
Ccdc81	T	C	7: 89,866,569	N634S	probably damaging	Het
Clcn1	C	A	6: 42,313,141	Q837K	probably benign	Het
Clec16a	A	G	16: 10,688,646		probably benign	Het
Col22a1	T	C	15: 71,881,662	I130V	probably benign	Het
Cpxm1	A	G	2: 130,397,503	W2R	probably damaging	Het
Csmd3	T	C	15: 47,611,831	N3364S	probably damaging	Het
Dgkq	A	G	5: 108,656,465	V131A	probably damaging	Het
Dnaic1	A	G	4: 41,629,997	S469G	probably benign	Het
Eml4	G	A	17: 83,478,060	E885K	probably benign	Het
Etfa	A	T	9: 55,488,838	I148N	probably damaging	Het
Gm11639	T	G	11: 104,710,730		probably null	Het
Gpbar1	A	G	1: 74,279,522	D308G	probably benign	Het
Gprin3	T	C	6: 59,353,915	E469G	possibly damaging	Het
Igkv1-115	T	C	6: 68,161,683	V90A	probably damaging	Het
Ints2	A	G	11: 86,244,463	V375A	possibly damaging	Het
Mindy3	T	C	2: 12,396,182	M242V	possibly damaging	Het
Olfr1094	A	C	2: 86,828,937	I62L	probably benign	Het
Olfr279	A	G	15: 98,497,684	I71V	probably benign	Het
Olfr353	T	C	2: 36,890,686	H54R	probably damaging	Het
P3h1	G	A	4: 119,238,759	E355K	probably benign	Het
Paxbp1	T	C	16: 91,023,427	T703A	probably benign	Het
Pcdh15	A	T	10: 74,210,470	Y193F	probably damaging	Het
Pdxdc1	A	G	16: 13,838,369	V613A	probably damaging	Het
Plekha5	T	C	6: 140,570,196		probably benign	Het
Pmel	A	T	10: 128,715,257	Q123L	possibly damaging	Het
Prl6a1	T	C	13: 27,318,166		probably benign	Het
Rcan1	T	C	16: 92,393,491	T187A	probably damaging	Het
Rp1l1	A	G	14: 64,032,232	S1756G	probably benign	Het
Runx2	A	T	17: 44,608,236	M405K	probably damaging	Het
Serinc5	T	C	13: 92,661,105	Y39H	probably damaging	Het
Sgsm1	G	A	5: 113,265,874	T676I	probably benign	Het
Slc6a15	G	C	10: 103,409,796	V547L	probably benign	Het
Slk	T	C	19: 47,608,993	I80T	probably damaging	Het
Spice1	A	G	16: 44,384,761	N810S	probably benign	Het
Spred2	A	G	11: 20,001,104		probably benign	Het
Tbc1d4	C	G	14: 101,479,220		probably benign	Het
Tdrd7	G	A	4: 46,029,762	V1032M	probably benign	Het
Tlr11	A	G	14: 50,362,336	N593S	probably benign	Het
Trpa1	T	C	1: 14,912,361		probably null	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp25	T	C	16: 77,081,447		probably benign	Het
Vmn2r97	T	A	17: 18,947,403	S640T	probably benign	Het
Zc3h6	A	G	2: 129,006,816	Y321C	probably damaging	Het
Zfp329	T	A	7: 12,811,468	N43I	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
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

Predicted Primers

PCR Primer
(F):5'- GCTGCTGCTGACAGAGATAGCC -3'
(R):5'- CCTGCCCCTAGTAGAGCTACCAAG -3'

Sequencing Primer
(F):5'- TGCCATGAGTGACAGGCTG -3'
(R):5'- CTACCAAGGCACAGGGTTAG -3'

Posted On

2013-11-08