Mutagenetix > Incidental Mutation

Incidental Mutation 'R8970:Coro2b'

706165

Institutional Source

Beutler Lab

Gene Symbol

Coro2b

Ensembl Gene

ENSMUSG00000041729

Gene Name

coronin, actin binding protein, 2B

Synonyms

E130012P22Rik

MMRRC Submission

068804-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R8970 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62326774-62444326 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 62333809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134079 (fasta)

Gene Model

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

AlphaFold

Q8BH44

Predicted Effect

probably benign
Transcript: ENSMUST00000048043

SMART Domains

Protein: ENSMUSP00000041826
Gene: ENSMUSG00000041729

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

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,545,726 (GRCm39)	V467A	probably damaging	Het
Abca2	T	C	2: 25,335,728 (GRCm39)	V2113A	probably benign	Het
Adam10	A	G	9: 70,655,458 (GRCm39)	N309D	probably benign	Het
Adcy1	T	A	11: 7,099,983 (GRCm39)	W698R	probably benign	Het
Adnp	T	C	2: 168,031,290 (GRCm39)	N7S	possibly damaging	Het
Ankar	A	G	1: 72,691,496 (GRCm39)		probably null	Het
Ankrd34b	T	A	13: 92,575,590 (GRCm39)	I274K	probably benign	Het
Apela	A	T	8: 65,489,601 (GRCm39)	L6H	unknown	Het
Ash1l	T	C	3: 88,976,307 (GRCm39)	I2629T	probably benign	Het
Auts2	C	T	5: 132,287,791 (GRCm39)	R64K	possibly damaging	Het
Bms1	A	G	6: 118,369,292 (GRCm39)	V1003A	possibly damaging	Het
C2cd3	T	C	7: 100,068,971 (GRCm39)	V555A		Het
C2cd6	T	A	1: 59,108,895 (GRCm39)	H252L	possibly damaging	Het
Capn3	G	T	2: 120,294,566 (GRCm39)	K71N	possibly damaging	Het
Chct1	A	G	11: 85,069,246 (GRCm39)	E198G	probably benign	Het
Clec2l	C	A	6: 38,657,122 (GRCm39)	T195K	possibly damaging	Het
Col27a1	T	C	4: 63,134,105 (GRCm39)	S15P	unknown	Het
Crocc2	A	T	1: 93,116,687 (GRCm39)	T233S	probably benign	Het
Ddb1	A	G	19: 10,585,808 (GRCm39)	Q174R	probably benign	Het
Denr	C	T	5: 124,055,279 (GRCm39)	P48L	probably damaging	Het
Dusp26	A	G	8: 31,584,232 (GRCm39)	Y113C	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Evi5l	A	G	8: 4,236,154 (GRCm39)		probably benign	Het
Fgf2	G	T	3: 37,458,767 (GRCm39)	V96F	probably benign	Het
Gpr139	A	G	7: 118,744,034 (GRCm39)	Y184H	probably damaging	Het
Gtf3c1	A	C	7: 125,272,227 (GRCm39)		probably benign	Het
Gucy1b2	A	G	14: 62,656,664 (GRCm39)	V231A	possibly damaging	Het
Gucy2g	T	C	19: 55,191,478 (GRCm39)	E991G	possibly damaging	Het
Gvin1	A	T	7: 105,762,647 (GRCm39)	H607Q	probably damaging	Het
Hal	T	C	10: 93,325,036 (GRCm39)	V15A	probably damaging	Het
Hes3	A	G	4: 152,376,036 (GRCm39)		probably null	Het
Il11	A	G	7: 4,779,181 (GRCm39)	L72P	probably damaging	Het
Iqsec3	T	A	6: 121,366,528 (GRCm39)	I785F	probably damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Lrpprc	T	A	17: 85,074,483 (GRCm39)	T475S	probably damaging	Het
Lrrc63	T	A	14: 75,362,631 (GRCm39)	T300S	unknown	Het
Lsamp	A	T	16: 41,994,528 (GRCm39)	I331F	possibly damaging	Het
Ltn1	A	T	16: 87,212,926 (GRCm39)	I545K	probably benign	Het
Mab21l4	G	C	1: 93,087,533 (GRCm39)	P107A	probably benign	Het
Med13l	G	A	5: 118,883,164 (GRCm39)	R1341H	probably damaging	Het
Msh4	T	A	3: 153,575,369 (GRCm39)	K669*	probably null	Het
Myo10	T	A	15: 25,803,467 (GRCm39)	L1558H	possibly damaging	Het
Ncbp1	G	A	4: 46,170,023 (GRCm39)	V699M	probably damaging	Het
Or12k8	T	A	2: 36,975,478 (GRCm39)	Y94F	probably benign	Het
Or56b1b	A	G	7: 108,164,997 (GRCm39)	S2P	probably benign	Het
Or5b114-ps1	T	G	19: 13,353,117 (GRCm39)	S264A	unknown	Het
Or5b99	T	A	19: 12,976,353 (GRCm39)	M1K	probably null	Het
Parpbp	G	A	10: 87,962,186 (GRCm39)	R165W	probably damaging	Het
Pcdhgb7	T	A	18: 37,885,631 (GRCm39)	M267K	probably benign	Het
Pitx3	T	A	19: 46,125,540 (GRCm39)	H68L	possibly damaging	Het
Ppfia4	A	G	1: 134,252,289 (GRCm39)	L395P	probably damaging	Het
Pramel42	T	C	5: 94,685,645 (GRCm39)	V435A	probably benign	Het
Ptprh	T	C	7: 4,583,944 (GRCm39)	D216G	possibly damaging	Het
Ptprs	A	G	17: 56,730,353 (GRCm39)	S1174P	possibly damaging	Het
Shf	A	G	2: 122,187,654 (GRCm39)	S51P	probably benign	Het
Sinhcaf	A	T	6: 148,834,624 (GRCm39)	F2I	probably damaging	Het
Slc19a3	A	T	1: 83,000,822 (GRCm39)	L65Q	probably damaging	Het
Srgap2	G	A	1: 131,226,104 (GRCm39)	L390F		Het
Srpk1	T	C	17: 28,818,493 (GRCm39)	T448A	probably benign	Het
Stat5a	A	G	11: 100,771,353 (GRCm39)	D612G	probably benign	Het
Supt4a	A	T	11: 87,633,645 (GRCm39)	E67V	probably benign	Het
Tango6	T	A	8: 107,415,871 (GRCm39)	C231S	probably damaging	Het
Th	A	G	7: 142,446,796 (GRCm39)	L490P	probably damaging	Het
Tpcn1	C	T	5: 120,682,518 (GRCm39)	G497S	probably damaging	Het
Trim10	A	T	17: 37,184,168 (GRCm39)	I254F	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn2r124	G	T	17: 18,294,439 (GRCm39)	R842L	probably benign	Het
Vmn2r56	T	C	7: 12,428,632 (GRCm39)	R545G	probably damaging	Het
Vmn2r84	T	C	10: 130,222,244 (GRCm39)	T659A	probably damaging	Het
Vps13c	T	C	9: 67,852,803 (GRCm39)	M2361T	probably benign	Het
Zfp217	T	C	2: 169,956,997 (GRCm39)	D667G	possibly damaging	Het
Zfp952	T	G	17: 33,221,810 (GRCm39)	C96W	probably benign	Het
Zfp959	A	G	17: 56,204,836 (GRCm39)	Q291R	possibly damaging	Het
Zscan4-ps3	T	C	7: 11,344,414 (GRCm39)	V124A	probably benign	Het

Other mutations in Coro2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01772:Coro2b	APN	9	62,333,090 (GRCm39)	missense	probably damaging	0.99
IGL01834:Coro2b	APN	9	62,338,639 (GRCm39)	missense	possibly damaging	0.93
IGL03242:Coro2b	APN	9	62,336,243 (GRCm39)	nonsense	probably null
PIT4151001:Coro2b	UTSW	9	62,336,286 (GRCm39)	missense	probably damaging	1.00
R0422:Coro2b	UTSW	9	62,335,259 (GRCm39)	missense	probably benign	0.00
R0835:Coro2b	UTSW	9	62,333,119 (GRCm39)	missense	possibly damaging	0.68
R0944:Coro2b	UTSW	9	62,335,263 (GRCm39)	missense	probably benign	0.08
R1115:Coro2b	UTSW	9	62,338,609 (GRCm39)	missense	probably damaging	0.96
R1254:Coro2b	UTSW	9	62,336,247 (GRCm39)	missense	probably damaging	0.98
R1422:Coro2b	UTSW	9	62,336,229 (GRCm39)	critical splice donor site	probably null
R1532:Coro2b	UTSW	9	62,396,705 (GRCm39)	missense	probably damaging	1.00
R1543:Coro2b	UTSW	9	62,333,123 (GRCm39)	missense	probably benign	0.32
R3424:Coro2b	UTSW	9	62,336,590 (GRCm39)	splice site	probably null
R3971:Coro2b	UTSW	9	62,336,522 (GRCm39)	missense	possibly damaging	0.55
R3972:Coro2b	UTSW	9	62,336,522 (GRCm39)	missense	possibly damaging	0.55
R4035:Coro2b	UTSW	9	62,333,071 (GRCm39)	unclassified	probably benign
R4233:Coro2b	UTSW	9	62,333,467 (GRCm39)	missense	possibly damaging	0.69
R4734:Coro2b	UTSW	9	62,333,860 (GRCm39)	missense	probably benign	0.02
R4825:Coro2b	UTSW	9	62,361,905 (GRCm39)	missense	probably benign	0.30
R5332:Coro2b	UTSW	9	62,336,512 (GRCm39)	missense	probably damaging	0.97
R5702:Coro2b	UTSW	9	62,333,859 (GRCm39)	missense	probably damaging	0.97
R6474:Coro2b	UTSW	9	62,333,910 (GRCm39)	missense	probably benign	0.16
R6500:Coro2b	UTSW	9	62,396,606 (GRCm39)	missense	probably benign	0.24
R6674:Coro2b	UTSW	9	62,339,709 (GRCm39)	missense	probably damaging	1.00
R7102:Coro2b	UTSW	9	62,328,667 (GRCm39)	missense	possibly damaging	0.81
R7347:Coro2b	UTSW	9	62,396,654 (GRCm39)	missense	probably benign
R8199:Coro2b	UTSW	9	62,336,302 (GRCm39)	missense	probably benign	0.00
R8447:Coro2b	UTSW	9	62,333,842 (GRCm39)	missense	probably damaging	1.00
R9023:Coro2b	UTSW	9	62,332,978 (GRCm39)	missense
R9211:Coro2b	UTSW	9	62,427,662 (GRCm39)	missense	probably benign	0.06
R9325:Coro2b	UTSW	9	62,396,609 (GRCm39)	missense	probably benign
R9443:Coro2b	UTSW	9	62,333,080 (GRCm39)	missense	probably benign	0.21
R9516:Coro2b	UTSW	9	62,335,291 (GRCm39)	nonsense	probably null
R9653:Coro2b	UTSW	9	62,335,259 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGTCTTTGTCCTCCCCGG -3'
(R):5'- TTTGCACCCAAACTGCAGC -3'

Sequencing Primer
(F):5'- GCCTCCCTTCGAGAACTGAC -3'
(R):5'- TGCAGCCAGCCTGAGAATGTC -3'

Posted On

2022-04-06