Mutagenetix > Incidental Mutations

Incidental Mutation 'R3971:Coro2b'

310976

Institutional Source

Beutler Lab

Gene Symbol

Coro2b

Ensembl Gene

ENSMUSG00000041729

Gene Name

coronin, actin binding protein, 2B

Synonyms

MMRRC Submission

040839-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3971 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62419492-62537044 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62429240 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 251 (A251T)

Ref Sequence

ENSEMBL: ENSMUSP00000041826 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048043
AA Change: A251T

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041826
Gene: ENSMUSG00000041729
AA Change: A251T

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 benign
Transcript: ENSMUST00000164246
AA Change: A246T

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128441
Gene: ENSMUSG00000041729
AA Change: A246T

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

0.3063

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.3%

Validation Efficiency

95% (38/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	C	7: 118,833,799	I585T	probably damaging	Het
Aadat	C	T	8: 60,518,581	P147L	probably damaging	Het
Apbb1ip	T	A	2: 22,823,494	D120E	unknown	Het
Atp10b	A	G	11: 43,216,512	D791G	probably damaging	Het
Aunip	A	G	4: 134,523,469	K242E	possibly damaging	Het
BC067074	A	G	13: 113,317,126	E41G	probably damaging	Het
Ccdc80	A	G	16: 45,095,820	E313G	probably benign	Het
Cd72	C	T	4: 43,449,491	R275H	probably damaging	Het
Chrnb1	A	G	11: 69,792,916		probably benign	Het
Ddr2	A	G	1: 169,988,417	F574L	probably damaging	Het
Dock1	G	A	7: 134,746,908	D284N	probably damaging	Het
Dync1h1	A	G	12: 110,665,965	H4506R	probably benign	Het
Fam174b	T	C	7: 73,766,600	V147A	probably damaging	Het
Glp2r	T	A	11: 67,746,815	D130V	possibly damaging	Het
Gm18856	A	T	13: 13,964,848		probably benign	Het
Gm7247	A	G	14: 51,365,384	Y59C	probably damaging	Het
Hecw1	T	C	13: 14,236,929	D1062G	probably damaging	Het
Ifit2	A	G	19: 34,574,041	E327G	probably benign	Het
Ighv1-37	A	T	12: 114,896,459	S43T	probably damaging	Het
Man2b1	A	G	8: 85,085,391	N158S	probably damaging	Het
Mcoln1	T	A	8: 3,507,408	I138K	probably benign	Het
Mki67	A	C	7: 135,696,130	S2392A	probably benign	Het
Mrc2	G	A	11: 105,328,031	D193N	possibly damaging	Het
Myo5b	C	T	18: 74,740,527	L1501F	probably damaging	Het
Nckap1l	A	G	15: 103,462,560	K189E	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr816	T	C	10: 129,911,873	N135S	probably benign	Het
Otop1	A	G	5: 38,300,189	I431V	probably benign	Het
Psma8	A	G	18: 14,757,387	K195E	possibly damaging	Het
Rbm25	A	G	12: 83,675,208	T723A	probably benign	Het
Sema3b	A	G	9: 107,600,368	S485P	probably benign	Het
Slc12a2	T	A	18: 57,930,196	L916Q	possibly damaging	Het
Spata31d1a	T	A	13: 59,702,157	D719V	possibly damaging	Het
Synj1	A	G	16: 90,991,603	S86P	probably damaging	Het
Tmem130	T	A	5: 144,755,321	H91L	probably benign	Het
Tsc2	T	C	17: 24,623,588	D288G	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Wac	T	C	18: 7,916,175	V303A	probably damaging	Het
Zfhx2	A	G	14: 55,074,475	V254A	probably benign	Het
Zfp993	A	G	4: 146,657,632	T138A	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
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'- GTTGGTCAGGCTGCATCT -3'
(R):5'- TGCATGTGTTGGAGAAGGAG -3'

Sequencing Primer
(F):5'- CTAAGAAGAGAGTGTGGCTCCTTCC -3'
(R):5'- CTCTTACAAAGACCCTGGTGATGG -3'

Posted On

2015-04-29