Mutagenetix > Incidental Mutation

Incidental Mutation 'R1972:Scube2'

221085

Institutional Source

Beutler Lab

Gene Symbol

Scube2

Ensembl Gene

ENSMUSG00000007279

Gene Name

signal peptide, CUB domain, EGF-like 2

Synonyms

ICRFP703N2430Q5.1, 4932442O19Rik, Cegf1, ICRFP703B1614Q5.1

MMRRC Submission

039985-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R1972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109798676-109865679 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109809214 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 675 (N675K)

Ref Sequence

ENSEMBL: ENSMUSP00000102340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007423] [ENSMUST00000106728] [ENSMUST00000106729]

AlphaFold

Q9JJS0

Predicted Effect

probably benign
Transcript: ENSMUST00000007423
AA Change: N704K

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000007423
Gene: ENSMUSG00000007279
AA Change: N704K

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_CA	43	83	7.01e-10	SMART
EGF_CA	84	125	1.79e-7	SMART
EGF_CA	126	166	1.5e-9	SMART
EGF	174	212	2.19e-2	SMART
EGF	214	251	4.89e0	SMART
EGF	283	320	5.12e-3	SMART
EGF_CA	321	361	3.7e-9	SMART
EGF_CA	362	400	1.85e-9	SMART
EGF_CA	401	441	2.48e-10	SMART
low complexity region	479	490	N/A	INTRINSIC
low complexity region	577	594	N/A	INTRINSIC
Pfam:GCC2_GCC3	642	692	7.2e-19	PFAM
Pfam:GCC2_GCC3	699	746	2e-16	PFAM
Pfam:GCC2_GCC3	755	802	3.1e-18	PFAM
CUB	807	919	1.23e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106728
AA Change: N578K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102339
Gene: ENSMUSG00000007279
AA Change: N578K

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_CA	43	83	7.01e-10	SMART
EGF_CA	84	125	1.79e-7	SMART
EGF_CA	126	166	1.5e-9	SMART
EGF	174	212	2.19e-2	SMART
EGF	214	251	4.89e0	SMART
EGF	283	320	5.12e-3	SMART
EGF_CA	321	361	3.7e-9	SMART
EGF_CA	362	400	1.85e-9	SMART
EGF_CA	401	441	2.48e-10	SMART
low complexity region	451	468	N/A	INTRINSIC
Pfam:GCC2_GCC3	516	566	6.4e-17	PFAM
Pfam:GCC2_GCC3	573	620	3.5e-14	PFAM
Pfam:GCC2_GCC3	629	676	5.4e-16	PFAM
Blast:CUB	678	727	2e-25	BLAST
Blast:CUB	730	796	1e-37	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000106729
AA Change: N675K

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102340
Gene: ENSMUSG00000007279
AA Change: N675K

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
EGF_CA	43	83	7.01e-10	SMART
EGF_CA	84	125	1.79e-7	SMART
EGF_CA	126	166	1.5e-9	SMART
EGF	174	212	2.19e-2	SMART
EGF	214	251	4.89e0	SMART
EGF	283	320	5.12e-3	SMART
EGF_CA	321	361	3.7e-9	SMART
EGF_CA	362	400	1.85e-9	SMART
EGF_CA	401	441	2.48e-10	SMART
low complexity region	605	622	N/A	INTRINSIC
Pfam:GCC2_GCC3	670	717	1.8e-16	PFAM
Pfam:GCC2_GCC3	726	773	2.7e-18	PFAM
CUB	778	890	1.23e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138946

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (77/77)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation are smaller than controls. Mice also exhibit defective endochondral bone formation and impaired Ihh-mediated chondrocyte differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 111,990,418 (GRCm38)		probably benign	Het
Bbs2	A	G	8: 94,081,177 (GRCm38)		probably benign	Het
Bcl9	A	C	3: 97,207,202 (GRCm38)	D1035E	probably damaging	Het
Bmpr2	A	G	1: 59,813,603 (GRCm38)	E31G	possibly damaging	Het
Borcs5	A	G	6: 134,710,174 (GRCm38)	D164G	probably damaging	Het
Cap2	A	G	13: 46,637,899 (GRCm38)	R181G	probably damaging	Het
Ccdc113	A	T	8: 95,538,246 (GRCm38)	H128L	probably benign	Het
Cdh7	G	A	1: 110,061,132 (GRCm38)	V255I	probably benign	Het
Chat	C	T	14: 32,424,191 (GRCm38)	V342I	probably benign	Het
Chrm4	C	T	2: 91,927,493 (GRCm38)	A82V	probably benign	Het
Cyp2d22	A	T	15: 82,375,827 (GRCm38)	M52K	probably benign	Het
Dennd2c	T	C	3: 103,131,698 (GRCm38)	V54A	probably benign	Het
Dgka	C	T	10: 128,720,466 (GRCm38)	G717D	probably damaging	Het
Dnah1	C	T	14: 31,265,391 (GRCm38)	W3550*	probably null	Het
Eif2ak1	A	G	5: 143,884,714 (GRCm38)	T283A	probably benign	Het
Fam189a1	A	T	7: 64,775,768 (GRCm38)	I192N	possibly damaging	Het
Fcgbp	A	T	7: 28,094,192 (GRCm38)	Y1173F	probably benign	Het
Flt1	G	A	5: 147,655,093 (GRCm38)		probably benign	Het
Gpr149	T	C	3: 62,530,795 (GRCm38)	K647R	probably benign	Het
Gsdma2	T	C	11: 98,650,918 (GRCm38)	V157A	probably benign	Het
Heatr4	T	A	12: 83,955,020 (GRCm38)	I884F	probably damaging	Het
Il17ra	A	G	6: 120,482,216 (GRCm38)	E776G	probably benign	Het
Inpp5d	T	C	1: 87,676,314 (GRCm38)	S235P	probably benign	Het
Iqgap3	T	A	3: 88,083,928 (GRCm38)		probably null	Het
Isoc2a	T	A	7: 4,892,087 (GRCm38)	D171E	probably damaging	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Kcnk12	T	C	17: 87,797,132 (GRCm38)	D108G	possibly damaging	Het
Klra9	A	T	6: 130,182,382 (GRCm38)		probably null	Het
Lgmn	A	G	12: 102,395,821 (GRCm38)		probably benign	Het
Morf4l1	A	T	9: 90,095,214 (GRCm38)		probably benign	Het
Mthfr	T	C	4: 148,051,927 (GRCm38)	I380T	probably damaging	Het
Mybpc1	T	C	10: 88,551,542 (GRCm38)	I436V	probably benign	Het
Naip5	A	G	13: 100,212,770 (GRCm38)	V1350A	probably damaging	Het
Neil2	A	T	14: 63,186,077 (GRCm38)	C36S	possibly damaging	Het
Nlrx1	A	G	9: 44,253,456 (GRCm38)	V897A	probably benign	Het
Nod2	A	T	8: 88,652,873 (GRCm38)	M8L	probably damaging	Het
Nop2	A	G	6: 125,134,639 (GRCm38)	T112A	probably benign	Het
Nrap	T	A	19: 56,357,353 (GRCm38)	T608S	probably damaging	Het
Nuak2	A	T	1: 132,330,602 (GRCm38)	H257L	probably damaging	Het
Olfr1218	A	T	2: 89,054,547 (GRCm38)	M293K	probably benign	Het
Olfr1475	T	C	19: 13,479,694 (GRCm38)	N168S	probably benign	Het
Olfr209	A	T	16: 59,362,113 (GRCm38)	V35D	probably damaging	Het
Olfr417	T	C	1: 174,369,570 (GRCm38)	F218L	probably benign	Het
Olfr671	T	C	7: 104,975,899 (GRCm38)	I33V	possibly damaging	Het
Olfr693	T	C	7: 106,678,219 (GRCm38)	D89G	probably benign	Het
Olfr889	T	A	9: 38,116,567 (GRCm38)	M257K	possibly damaging	Het
Pde1a	T	C	2: 79,865,721 (GRCm38)	E358G	probably damaging	Het
Pdlim1	A	T	19: 40,223,137 (GRCm38)	S237R	probably damaging	Het
Pithd1	T	C	4: 135,987,029 (GRCm38)	D36G	probably damaging	Het
Ppp2r3a	A	G	9: 101,211,777 (GRCm38)	F449S	probably benign	Het
Prr11	G	A	11: 87,098,754 (GRCm38)	R264C	possibly damaging	Het
Rbm43	A	T	2: 51,925,536 (GRCm38)	H224Q	probably benign	Het
Rfx5	C	T	3: 94,957,292 (GRCm38)	L250F	probably damaging	Het
Rgs22	T	A	15: 36,103,836 (GRCm38)	I160L	probably benign	Het
Rorb	T	A	19: 18,952,203 (GRCm38)	Q393H	probably damaging	Het
Rpl13a	T	A	7: 45,125,995 (GRCm38)	K368*	probably null	Het
Scaf8	T	G	17: 3,169,371 (GRCm38)	S276R	unknown	Het
Sec22c	A	T	9: 121,688,254 (GRCm38)	M126K	possibly damaging	Het
Serpinb11	T	C	1: 107,369,480 (GRCm38)	F29L	probably damaging	Het
Sis	A	G	3: 72,921,004 (GRCm38)	F1217S	probably damaging	Het
Slc18a2	A	G	19: 59,274,653 (GRCm38)	D294G	possibly damaging	Het
Slc9c1	A	G	16: 45,593,472 (GRCm38)	T988A	possibly damaging	Het
Smndc1	A	C	19: 53,383,555 (GRCm38)		probably null	Het
Sned1	G	A	1: 93,265,073 (GRCm38)	G361S	probably damaging	Het
Spatc1	A	T	15: 76,284,875 (GRCm38)		probably null	Het
Stab2	A	T	10: 86,960,316 (GRCm38)	C356S	probably damaging	Het
Stk4	C	T	2: 164,100,528 (GRCm38)	T360M	probably benign	Het
Tbc1d30	A	T	10: 121,306,230 (GRCm38)		probably null	Het
Tenm3	T	C	8: 48,228,591 (GRCm38)	E2668G	probably damaging	Het
Tigar	A	G	6: 127,087,926 (GRCm38)	V253A	possibly damaging	Het
Tmc2	T	A	2: 130,214,664 (GRCm38)		probably benign	Het
Ttc26	C	A	6: 38,410,803 (GRCm38)	N396K	probably benign	Het
Ugt1a10	A	T	1: 88,056,047 (GRCm38)	Y189F	probably damaging	Het
Vmn2r82	A	G	10: 79,378,846 (GRCm38)	D221G	probably damaging	Het
Xkr5	C	T	8: 18,941,981 (GRCm38)	V131M	probably damaging	Het

Other mutations in Scube2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Scube2	APN	7	109,808,454 (GRCm38)	missense	probably damaging	1.00
IGL01608:Scube2	APN	7	109,843,254 (GRCm38)	missense	probably benign
IGL02080:Scube2	APN	7	109,852,478 (GRCm38)	missense	probably damaging	1.00
PIT4445001:Scube2	UTSW	7	109,809,180 (GRCm38)	missense	probably benign	0.22
R0020:Scube2	UTSW	7	109,830,888 (GRCm38)	splice site	probably benign
R0020:Scube2	UTSW	7	109,830,888 (GRCm38)	splice site	probably benign
R0106:Scube2	UTSW	7	109,846,908 (GRCm38)	splice site	probably benign
R0230:Scube2	UTSW	7	109,824,764 (GRCm38)	critical splice donor site	probably null
R0255:Scube2	UTSW	7	109,824,872 (GRCm38)	missense	probably damaging	0.98
R0427:Scube2	UTSW	7	109,824,837 (GRCm38)	missense	probably benign	0.00
R0612:Scube2	UTSW	7	109,804,764 (GRCm38)	splice site	probably benign
R0658:Scube2	UTSW	7	109,837,120 (GRCm38)	splice site	probably benign
R0687:Scube2	UTSW	7	109,829,128 (GRCm38)	missense	possibly damaging	0.47
R1087:Scube2	UTSW	7	109,831,675 (GRCm38)	missense	probably damaging	1.00
R1366:Scube2	UTSW	7	109,804,614 (GRCm38)	missense	probably damaging	1.00
R1635:Scube2	UTSW	7	109,843,214 (GRCm38)	missense	possibly damaging	0.90
R1797:Scube2	UTSW	7	109,831,675 (GRCm38)	missense	probably damaging	1.00
R2080:Scube2	UTSW	7	109,808,505 (GRCm38)	missense	possibly damaging	0.77
R2254:Scube2	UTSW	7	109,825,459 (GRCm38)	missense	possibly damaging	0.47
R2315:Scube2	UTSW	7	109,804,701 (GRCm38)	missense	probably damaging	1.00
R2325:Scube2	UTSW	7	109,843,954 (GRCm38)	missense	probably damaging	1.00
R3723:Scube2	UTSW	7	109,808,406 (GRCm38)	splice site	probably benign
R3887:Scube2	UTSW	7	109,843,176 (GRCm38)	splice site	probably benign
R3946:Scube2	UTSW	7	109,857,590 (GRCm38)	missense	possibly damaging	0.81
R4030:Scube2	UTSW	7	109,831,771 (GRCm38)	missense	probably benign	0.09
R4621:Scube2	UTSW	7	109,800,650 (GRCm38)	missense	possibly damaging	0.63
R4684:Scube2	UTSW	7	109,810,713 (GRCm38)	missense	probably damaging	0.96
R4736:Scube2	UTSW	7	109,831,205 (GRCm38)	missense	probably benign	0.01
R5096:Scube2	UTSW	7	109,799,244 (GRCm38)	utr 3 prime	probably benign
R5266:Scube2	UTSW	7	109,809,230 (GRCm38)	missense	probably damaging	1.00
R5579:Scube2	UTSW	7	109,810,737 (GRCm38)	missense	probably damaging	1.00
R5669:Scube2	UTSW	7	109,825,439 (GRCm38)	missense	probably benign	0.04
R5838:Scube2	UTSW	7	109,808,444 (GRCm38)	missense	probably damaging	1.00
R5916:Scube2	UTSW	7	109,831,724 (GRCm38)	missense	possibly damaging	0.77
R6056:Scube2	UTSW	7	109,833,013 (GRCm38)	nonsense	probably null
R6731:Scube2	UTSW	7	109,810,737 (GRCm38)	missense	probably damaging	1.00
R6785:Scube2	UTSW	7	109,810,617 (GRCm38)	missense	probably benign
R8197:Scube2	UTSW	7	109,808,477 (GRCm38)	missense	possibly damaging	0.53
R8250:Scube2	UTSW	7	109,864,170 (GRCm38)	missense	probably benign	0.20
R8273:Scube2	UTSW	7	109,809,176 (GRCm38)	missense	probably benign	0.00
R8427:Scube2	UTSW	7	109,800,590 (GRCm38)	missense	probably damaging	1.00
R8882:Scube2	UTSW	7	109,852,473 (GRCm38)	missense	probably damaging	1.00
R9258:Scube2	UTSW	7	109,799,308 (GRCm38)	missense	probably damaging	1.00
R9428:Scube2	UTSW	7	109,829,138 (GRCm38)	missense	probably benign	0.32
R9476:Scube2	UTSW	7	109,831,762 (GRCm38)	missense	probably damaging	1.00
R9510:Scube2	UTSW	7	109,831,762 (GRCm38)	missense	probably damaging	1.00
R9709:Scube2	UTSW	7	109,831,764 (GRCm38)	missense	probably damaging	1.00
Z1177:Scube2	UTSW	7	109,843,201 (GRCm38)	missense	probably damaging	1.00
Z1177:Scube2	UTSW	7	109,838,127 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCACCAGACTCAATGGAACTC -3'
(R):5'- TGTGCAAACCTGAGGCATTAC -3'

Sequencing Primer
(F):5'- GGAACTCATTAGAGAATGGCATTCC -3'
(R):5'- GAGGCATTACCCACCTCCTGAG -3'

Posted On

2014-08-25