Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00848:Cdcp3'

8488

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdcp3

Ensembl Gene

ENSMUSG00000006204

Gene Name

CUB domain containing protein 3

Synonyms

5430419D17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00848

Quality Score

Status

Chromosome

Chromosomal Location

130776131-130908180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130848453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 869 (E869G)

Ref Sequence

ENSEMBL: ENSMUSP00000150784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050586] [ENSMUST00000124096] [ENSMUST00000208921]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000050586
AA Change: E753G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204
AA Change: E753G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	85	105	N/A	INTRINSIC
SR	144	244	3.3e-57	SMART
CUB	272	378	1.2e-16	SMART
SR	428	528	3.9e-56	SMART
low complexity region	533	548	N/A	INTRINSIC
CUB	556	667	5.1e-38	SMART
SR	680	780	1.5e-57	SMART
Pfam:CUB	795	840	3.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000208921
AA Change: E869G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,370,237 (GRCm39)	F508L	probably damaging	Het
Adgra3	C	T	5: 50,159,291 (GRCm39)	G320R	probably damaging	Het
Arhgef40	G	A	14: 52,224,884 (GRCm39)	V10M	probably damaging	Het
Birc6	C	T	17: 75,003,388 (GRCm39)	Q4739*	probably null	Het
Cdh20	C	T	1: 104,861,981 (GRCm39)	H54Y	probably benign	Het
Cep112	A	G	11: 108,362,886 (GRCm39)	D202G	probably damaging	Het
Cfhr2	T	A	1: 139,758,970 (GRCm39)	T27S	probably benign	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Copa	T	A	1: 171,938,255 (GRCm39)	C523S	possibly damaging	Het
Copz1	T	A	15: 103,207,176 (GRCm39)		probably benign	Het
Crybg1	A	C	10: 43,843,814 (GRCm39)		probably null	Het
Cyp3a11	A	T	5: 145,799,275 (GRCm39)	I304N	probably damaging	Het
Eif2d	C	T	1: 131,092,173 (GRCm39)	Q315*	probably null	Het
Fgfr4	A	G	13: 55,306,983 (GRCm39)	E224G	probably damaging	Het
Fndc3b	A	T	3: 27,505,658 (GRCm39)	L870Q	probably damaging	Het
Glt8d2	C	T	10: 82,497,999 (GRCm39)		probably null	Het
Gpat3	A	T	5: 101,041,010 (GRCm39)	M357L	probably benign	Het
Hrnr	A	T	3: 93,230,204 (GRCm39)	K147N	unknown	Het
Kbtbd3	T	A	9: 4,331,184 (GRCm39)	S519R	probably damaging	Het
Kcnv1	A	G	15: 44,976,624 (GRCm39)	I221T	probably benign	Het
Khdrbs2	C	T	1: 32,511,833 (GRCm39)	A266V	probably benign	Het
Lmtk2	A	G	5: 144,113,216 (GRCm39)	E1312G	probably benign	Het
Mos	T	C	4: 3,871,459 (GRCm39)	N119S	probably damaging	Het
Mtpap	C	T	18: 4,380,717 (GRCm39)	H132Y	probably benign	Het
Myo18b	G	A	5: 113,019,351 (GRCm39)	T642I	probably damaging	Het
Myo5c	A	G	9: 75,196,463 (GRCm39)	E1303G	probably benign	Het
Napepld	A	T	5: 21,888,191 (GRCm39)	M86K	probably benign	Het
Nvl	T	A	1: 180,932,690 (GRCm39)	D709V	probably damaging	Het
Pak1ip1	A	T	13: 41,166,099 (GRCm39)	E341D	probably benign	Het
Pgghg	G	A	7: 140,522,317 (GRCm39)	G32D	probably damaging	Het
Phlpp1	G	A	1: 106,303,985 (GRCm39)	R1096H	probably damaging	Het
Phlpp1	C	T	1: 106,267,178 (GRCm39)	T697M	probably damaging	Het
Piwil4	T	G	9: 14,638,707 (GRCm39)	T273P	probably damaging	Het
Pkd2l1	A	T	19: 44,180,718 (GRCm39)		probably benign	Het
Polr3b	A	G	10: 84,516,241 (GRCm39)	D623G	probably damaging	Het
Pop1	A	G	15: 34,508,875 (GRCm39)	T317A	probably benign	Het
Prune2	A	T	19: 17,096,482 (GRCm39)	K662I	probably damaging	Het
Ptger4	T	C	15: 5,264,589 (GRCm39)	I356V	probably benign	Het
Rhbdd1	T	C	1: 82,318,165 (GRCm39)	L16P	possibly damaging	Het
Rps11	C	T	7: 44,772,925 (GRCm39)	R22Q	probably benign	Het
Sfxn2	A	T	19: 46,578,596 (GRCm39)	I204F	probably damaging	Het
Slc26a9	C	T	1: 131,685,266 (GRCm39)	S365F	probably damaging	Het
Slc47a2	C	T	11: 61,193,059 (GRCm39)	V565M	probably benign	Het
Spns1	T	C	7: 125,970,414 (GRCm39)		probably null	Het
Stk3	T	A	15: 35,114,768 (GRCm39)	E48V	possibly damaging	Het
Svs3b	T	C	2: 164,098,021 (GRCm39)	E100G	probably damaging	Het
Tjp1	T	C	7: 64,952,942 (GRCm39)	Q1464R	probably benign	Het
Tspan10	T	C	11: 120,335,096 (GRCm39)	S69P	probably benign	Het
Usp32	T	C	11: 84,942,007 (GRCm39)		probably benign	Het
Vps45	G	T	3: 95,964,285 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,343,208 (GRCm39)	N1790K	probably damaging	Het
Zfp704	A	T	3: 9,630,299 (GRCm39)	S21T	possibly damaging	Het

Other mutations in Cdcp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Cdcp3	APN	7	130,839,823 (GRCm39)	splice site	probably null
IGL00966:Cdcp3	APN	7	130,844,836 (GRCm39)	nonsense	probably null
IGL01286:Cdcp3	APN	7	130,848,432 (GRCm39)	missense	probably damaging	1.00
IGL01303:Cdcp3	APN	7	130,796,060 (GRCm39)	missense	possibly damaging	0.53
IGL01585:Cdcp3	APN	7	130,846,487 (GRCm39)	missense	probably damaging	0.97
IGL01665:Cdcp3	APN	7	130,848,386 (GRCm39)	nonsense	probably null
IGL01953:Cdcp3	APN	7	130,826,709 (GRCm39)	missense	probably benign	0.04
IGL02427:Cdcp3	APN	7	130,846,517 (GRCm39)	missense	probably damaging	0.99
IGL02508:Cdcp3	APN	7	130,824,559 (GRCm39)	missense	probably damaging	1.00
IGL02678:Cdcp3	APN	7	130,830,646 (GRCm39)	missense	probably damaging	1.00
IGL03092:Cdcp3	APN	7	130,803,527 (GRCm39)	critical splice donor site	probably null
IGL03122:Cdcp3	APN	7	130,798,243 (GRCm39)	missense	possibly damaging	0.68
IGL03343:Cdcp3	APN	7	130,848,420 (GRCm39)	missense	probably damaging	1.00
R0011:Cdcp3	UTSW	7	130,831,722 (GRCm39)	missense	probably damaging	0.99
R0011:Cdcp3	UTSW	7	130,831,722 (GRCm39)	missense	probably damaging	0.99
R0234:Cdcp3	UTSW	7	130,796,032 (GRCm39)	splice site	probably null
R0234:Cdcp3	UTSW	7	130,796,032 (GRCm39)	splice site	probably null
R0268:Cdcp3	UTSW	7	130,839,905 (GRCm39)	missense	probably damaging	1.00
R0383:Cdcp3	UTSW	7	130,841,268 (GRCm39)	missense	probably benign	0.05
R0973:Cdcp3	UTSW	7	130,839,911 (GRCm39)	missense	probably damaging	1.00
R0973:Cdcp3	UTSW	7	130,839,911 (GRCm39)	missense	probably damaging	1.00
R0974:Cdcp3	UTSW	7	130,839,911 (GRCm39)	missense	probably damaging	1.00
R1572:Cdcp3	UTSW	7	130,846,560 (GRCm39)	nonsense	probably null
R1911:Cdcp3	UTSW	7	130,839,818 (GRCm39)	missense	probably damaging	1.00
R2032:Cdcp3	UTSW	7	130,844,781 (GRCm39)	missense	probably damaging	1.00
R2097:Cdcp3	UTSW	7	130,783,693 (GRCm39)	nonsense	probably null
R2221:Cdcp3	UTSW	7	130,849,186 (GRCm39)	critical splice acceptor site	probably null
R2223:Cdcp3	UTSW	7	130,849,186 (GRCm39)	critical splice acceptor site	probably null
R2254:Cdcp3	UTSW	7	130,824,634 (GRCm39)	missense	probably damaging	1.00
R2913:Cdcp3	UTSW	7	130,783,753 (GRCm39)	missense	possibly damaging	0.90
R2991:Cdcp3	UTSW	7	130,848,429 (GRCm39)	missense	probably damaging	1.00
R3439:Cdcp3	UTSW	7	130,790,508 (GRCm39)	critical splice donor site	probably null
R4418:Cdcp3	UTSW	7	130,849,194 (GRCm39)	missense	possibly damaging	0.86
R4916:Cdcp3	UTSW	7	130,776,206 (GRCm39)	splice site	probably null
R5488:Cdcp3	UTSW	7	130,848,324 (GRCm39)	missense	probably damaging	1.00
R5594:Cdcp3	UTSW	7	130,841,252 (GRCm39)	missense	probably benign	0.12
R5897:Cdcp3	UTSW	7	130,798,280 (GRCm39)	splice site	probably null
R5898:Cdcp3	UTSW	7	130,843,696 (GRCm39)	splice site	probably null
R5940:Cdcp3	UTSW	7	130,839,992 (GRCm39)	missense	probably damaging	1.00
R6170:Cdcp3	UTSW	7	130,776,216 (GRCm39)	splice site	probably null
R6187:Cdcp3	UTSW	7	130,872,328 (GRCm39)	intron	probably benign
R6321:Cdcp3	UTSW	7	130,858,735 (GRCm39)	critical splice donor site	probably null
R6409:Cdcp3	UTSW	7	130,863,800 (GRCm39)	intron	probably benign
R6432:Cdcp3	UTSW	7	130,846,601 (GRCm39)	critical splice donor site	probably null
R6481:Cdcp3	UTSW	7	130,858,530 (GRCm39)	missense	probably benign	0.05
R6750:Cdcp3	UTSW	7	130,889,974 (GRCm39)	intron	probably benign
R6783:Cdcp3	UTSW	7	130,828,493 (GRCm39)	missense	probably damaging	0.99
R6836:Cdcp3	UTSW	7	130,798,233 (GRCm39)	missense	possibly damaging	0.84
R6925:Cdcp3	UTSW	7	130,824,436 (GRCm39)	missense	possibly damaging	0.92
R6995:Cdcp3	UTSW	7	130,824,400 (GRCm39)	missense	probably damaging	1.00
R7199:Cdcp3	UTSW	7	130,837,641 (GRCm39)	nonsense	probably null
R7205:Cdcp3	UTSW	7	130,879,352 (GRCm39)	critical splice donor site	probably null
R7340:Cdcp3	UTSW	7	130,879,344 (GRCm39)	missense	unknown
R7354:Cdcp3	UTSW	7	130,873,762 (GRCm39)	missense	unknown
R7354:Cdcp3	UTSW	7	130,858,458 (GRCm39)	missense	possibly damaging	0.84
R7434:Cdcp3	UTSW	7	130,881,212 (GRCm39)	missense	unknown
R7485:Cdcp3	UTSW	7	130,830,562 (GRCm39)	missense	probably damaging	0.99
R7513:Cdcp3	UTSW	7	130,873,800 (GRCm39)	missense	unknown
R7562:Cdcp3	UTSW	7	130,904,426 (GRCm39)	missense	unknown
R7623:Cdcp3	UTSW	7	130,879,295 (GRCm39)	splice site	probably null
R7782:Cdcp3	UTSW	7	130,904,466 (GRCm39)	splice site	probably null
R7879:Cdcp3	UTSW	7	130,844,871 (GRCm39)	missense	probably damaging	0.98
R7935:Cdcp3	UTSW	7	130,852,205 (GRCm39)	missense	probably damaging	0.96
R7949:Cdcp3	UTSW	7	130,895,324 (GRCm39)	splice site	probably null
R7964:Cdcp3	UTSW	7	130,899,963 (GRCm39)	missense	unknown
R7980:Cdcp3	UTSW	7	130,836,506 (GRCm39)	missense	probably damaging	0.98
R8145:Cdcp3	UTSW	7	130,898,045 (GRCm39)	missense	unknown
R8673:Cdcp3	UTSW	7	130,844,846 (GRCm39)	missense	probably damaging	0.99
R8684:Cdcp3	UTSW	7	130,837,688 (GRCm39)	nonsense	probably null
R8721:Cdcp3	UTSW	7	130,879,335 (GRCm39)	missense	unknown
R8725:Cdcp3	UTSW	7	130,875,485 (GRCm39)	missense	unknown
R8727:Cdcp3	UTSW	7	130,875,485 (GRCm39)	missense	unknown
R8742:Cdcp3	UTSW	7	130,783,741 (GRCm39)	missense	unknown
R8807:Cdcp3	UTSW	7	130,846,507 (GRCm39)	missense	probably damaging	0.97
R8822:Cdcp3	UTSW	7	130,843,706 (GRCm39)	critical splice acceptor site	probably null
R8861:Cdcp3	UTSW	7	130,861,690 (GRCm39)	nonsense	probably null
R8897:Cdcp3	UTSW	7	130,867,566 (GRCm39)	missense	unknown
R8900:Cdcp3	UTSW	7	130,904,197 (GRCm39)	intron	probably benign
R9214:Cdcp3	UTSW	7	130,824,481 (GRCm39)	missense	possibly damaging	0.89
R9218:Cdcp3	UTSW	7	130,863,728 (GRCm39)	missense	unknown
R9311:Cdcp3	UTSW	7	130,859,490 (GRCm39)	missense	unknown
R9323:Cdcp3	UTSW	7	130,828,401 (GRCm39)	missense	probably damaging	0.96
R9384:Cdcp3	UTSW	7	130,904,404 (GRCm39)	missense	unknown
R9387:Cdcp3	UTSW	7	130,863,620 (GRCm39)	missense	unknown
R9417:Cdcp3	UTSW	7	130,852,218 (GRCm39)	missense	possibly damaging	0.60
R9502:Cdcp3	UTSW	7	130,836,815 (GRCm39)	missense	possibly damaging	0.61
R9603:Cdcp3	UTSW	7	130,830,643 (GRCm39)	missense	probably damaging	0.98
R9642:Cdcp3	UTSW	7	130,848,257 (GRCm39)	missense	probably benign	0.01
Z1088:Cdcp3	UTSW	7	130,848,362 (GRCm39)	missense	probably damaging	1.00
Z1177:Cdcp3	UTSW	7	130,867,595 (GRCm39)	missense	unknown

Posted On

2012-12-06