Mutagenetix > Incidental Mutation

Incidental Mutation 'R6862:Coro1b'

535726

Institutional Source

Beutler Lab

Gene Symbol

Coro1b

Ensembl Gene

ENSMUSG00000024835

Gene Name

coronin, actin binding protein 1B

Synonyms

coronin 2

MMRRC Submission

045026-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6862 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4198618-4204034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4200770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 234 (V234A)

Ref Sequence

ENSEMBL: ENSMUSP00000008893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008893] [ENSMUST00000061086] [ENSMUST00000123874]

AlphaFold

Q9WUM3

Predicted Effect

probably benign
Transcript: ENSMUST00000008893
AA Change: V234A

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000008893
Gene: ENSMUSG00000024835
AA Change: V234A

Domain	Start	End	E-Value	Type
DUF1899	5	69	1.48e-37	SMART
WD40	68	111	2.1e-7	SMART
WD40	121	161	1.44e-5	SMART
WD40	164	204	4.08e-5	SMART
DUF1900	258	392	6.41e-88	SMART
coiled coil region	445	482	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061086

SMART Domains

Protein: ENSMUSP00000053412
Gene: ENSMUSG00000045826

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	32	54	N/A	INTRINSIC
Pfam:PTPRCAP	58	197	8.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123874

SMART Domains

Protein: ENSMUSP00000118450
Gene: ENSMUSG00000024835

Domain	Start	End	E-Value	Type
DUF1899	5	69	1.48e-37	SMART
WD40	68	111	2.1e-7	SMART
WD40	121	161	1.44e-5	SMART

Meta Mutation Damage Score

0.3244

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal mast cell degranulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	T	3: 137,891,949 (GRCm39)		probably benign	Het
Adgra2	T	A	8: 27,603,465 (GRCm39)	C417S	probably damaging	Het
Adgra2	C	A	8: 27,603,464 (GRCm39)	H416Q	probably benign	Het
Aff3	C	A	1: 38,445,578 (GRCm39)	R307L	possibly damaging	Het
Arhgap17	T	C	7: 122,921,124 (GRCm39)	D121G	probably damaging	Het
Ascc3	G	T	10: 50,725,742 (GRCm39)	R2155I	probably null	Het
Ccdc115	C	T	1: 34,478,364 (GRCm39)	S19N	possibly damaging	Het
Ccser2	T	C	14: 36,662,038 (GRCm39)	N382S	probably benign	Het
Cct6b	A	T	11: 82,610,785 (GRCm39)	V500E	probably damaging	Het
Cenpo	A	T	12: 4,266,539 (GRCm39)	Y190N	probably damaging	Het
Cfh	T	A	1: 140,030,100 (GRCm39)	K924N	probably damaging	Het
Col4a1	A	G	8: 11,252,926 (GRCm39)		probably benign	Het
Crot	T	C	5: 9,039,641 (GRCm39)	K69E	probably damaging	Het
Cyp2d11	A	T	15: 82,274,339 (GRCm39)	H347Q	probably benign	Het
Efcab3	A	T	11: 104,612,284 (GRCm39)	K636*	probably null	Het
Fbn2	T	A	18: 58,257,393 (GRCm39)	I325F	probably benign	Het
Fbxw4	T	A	19: 45,571,187 (GRCm39)	R41S	probably benign	Het
Fn1	T	A	1: 71,653,066 (GRCm39)	I1308F	probably benign	Het
Frem1	C	A	4: 82,930,251 (GRCm39)	E232*	probably null	Het
Gabrg3	T	C	7: 56,423,059 (GRCm39)	Q213R	possibly damaging	Het
Garin3	G	A	11: 46,298,418 (GRCm39)	G574D	possibly damaging	Het
Gsdme	A	T	6: 50,204,378 (GRCm39)	V193E	probably damaging	Het
Hadha	C	A	5: 30,352,977 (GRCm39)		probably null	Het
Hdgfl2	C	A	17: 56,406,211 (GRCm39)	A533E	probably damaging	Het
Hivep2	T	C	10: 14,006,327 (GRCm39)	F975S	probably damaging	Het
Htatip2	T	A	7: 49,420,666 (GRCm39)	S171T	probably benign	Het
Ift57	A	T	16: 49,584,167 (GRCm39)	I307F	possibly damaging	Het
Il22	A	T	10: 118,041,715 (GRCm39)	R110W	probably benign	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Kif2b	G	A	11: 91,466,741 (GRCm39)	T514M	probably damaging	Het
Kmt2c	A	C	5: 25,515,515 (GRCm39)	I2776S	probably damaging	Het
Ly9	T	C	1: 171,428,723 (GRCm39)	D189G	probably benign	Het
Mal2	T	C	15: 54,451,753 (GRCm39)	V58A	probably damaging	Het
Mettl21e	T	A	1: 44,245,526 (GRCm39)	N240I	probably benign	Het
Msantd5f1	A	G	4: 73,605,621 (GRCm39)	N344S	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nacc1	G	A	8: 85,399,844 (GRCm39)	R458C	probably damaging	Het
Ncapd3	T	C	9: 26,942,105 (GRCm39)	C14R	probably damaging	Het
Obscn	G	T	11: 58,886,279 (GRCm39)		probably benign	Het
Or13c3	A	G	4: 52,855,695 (GRCm39)	F273L	probably benign	Het
Or1j4	A	T	2: 36,740,234 (GRCm39)	M59L	possibly damaging	Het
Or8d23	T	A	9: 38,841,772 (GRCm39)	F102I	possibly damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Pde4dip	C	A	3: 97,674,340 (GRCm39)	R192L	possibly damaging	Het
Pdlim4	C	A	11: 53,946,674 (GRCm39)	E204D	probably damaging	Het
Phf3	T	C	1: 30,853,063 (GRCm39)	Q1049R	probably damaging	Het
Prr14l	A	G	5: 32,985,103 (GRCm39)	L1464P	probably damaging	Het
Psg25	C	T	7: 18,255,323 (GRCm39)	V398I	probably benign	Het
Ptprq	T	A	10: 107,522,086 (GRCm39)	N622Y	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Tex36	A	G	7: 133,189,002 (GRCm39)	L190P	probably benign	Het
Tk1	A	G	11: 117,707,320 (GRCm39)	C156R	probably damaging	Het
Tmem144	T	A	3: 79,739,406 (GRCm39)	M126L	probably benign	Het
Tmem208	G	A	8: 106,054,862 (GRCm39)		probably null	Het
Trappc13	T	C	13: 104,286,660 (GRCm39)	Q199R	probably damaging	Het
Trim30b	T	A	7: 104,012,960 (GRCm39)	K156N	probably damaging	Het
Trps1	A	G	15: 50,695,001 (GRCm39)		probably null	Het
Washc4	T	A	10: 83,394,757 (GRCm39)	F329Y	possibly damaging	Het
Zbed5	T	G	5: 129,932,026 (GRCm39)	D658E	probably benign	Het
Zfyve28	T	G	5: 34,445,449 (GRCm39)	K11N	probably benign	Het
Zp1	C	T	19: 10,893,877 (GRCm39)	V443I	possibly damaging	Het

Other mutations in Coro1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02986:Coro1b	APN	19	4,199,470 (GRCm39)	missense	possibly damaging	0.93
IGL03411:Coro1b	APN	19	4,200,225 (GRCm39)	splice site	probably benign
R0189:Coro1b	UTSW	19	4,203,250 (GRCm39)	missense	probably damaging	1.00
R0410:Coro1b	UTSW	19	4,199,362 (GRCm39)	missense	probably damaging	1.00
R1165:Coro1b	UTSW	19	4,199,901 (GRCm39)	missense	probably damaging	0.99
R1302:Coro1b	UTSW	19	4,199,376 (GRCm39)	missense	probably damaging	1.00
R1519:Coro1b	UTSW	19	4,200,583 (GRCm39)	missense	possibly damaging	0.95
R4085:Coro1b	UTSW	19	4,203,618 (GRCm39)	missense	probably benign	0.02
R4528:Coro1b	UTSW	19	4,199,980 (GRCm39)	missense	probably benign	0.23
R4692:Coro1b	UTSW	19	4,199,418 (GRCm39)	missense	probably damaging	1.00
R4919:Coro1b	UTSW	19	4,200,709 (GRCm39)	missense	possibly damaging	0.85
R5433:Coro1b	UTSW	19	4,203,449 (GRCm39)	missense	probably benign
R5650:Coro1b	UTSW	19	4,200,610 (GRCm39)	missense	possibly damaging	0.57
R5870:Coro1b	UTSW	19	4,199,384 (GRCm39)	missense	probably damaging	1.00
R7332:Coro1b	UTSW	19	4,199,356 (GRCm39)	missense	probably benign	0.00
R7511:Coro1b	UTSW	19	4,202,525 (GRCm39)	missense	probably damaging	1.00
R7559:Coro1b	UTSW	19	4,200,220 (GRCm39)	critical splice donor site	probably null
R8684:Coro1b	UTSW	19	4,199,527 (GRCm39)	missense	probably damaging	1.00
R8911:Coro1b	UTSW	19	4,200,803 (GRCm39)	missense	probably damaging	1.00
R9086:Coro1b	UTSW	19	4,202,525 (GRCm39)	missense	probably damaging	1.00
R9180:Coro1b	UTSW	19	4,203,392 (GRCm39)	missense	probably benign
R9416:Coro1b	UTSW	19	4,201,473 (GRCm39)	missense	probably damaging	0.97
R9593:Coro1b	UTSW	19	4,199,497 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCTCAGCTTGCAAGGAC -3'
(R):5'- AGCCAGGCTGAGAATCCAAG -3'

Sequencing Primer
(F):5'- AATCATCGATCCTAGGCGGG -3'
(R):5'- CAGGCTGAGAATCCAAGCAGTAC -3'

Posted On

2018-10-18