Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01303:Cdcp3'

73320

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 #

IGL01303

Quality Score

Status

Chromosome

Chromosomal Location

130776131-130908180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130796060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 72 (T72A)

Ref Sequence

ENSEMBL: ENSMUSP00000061529 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050586
AA Change: T72A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204
AA Change: T72A

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 benign
Transcript: ENSMUST00000208921
AA Change: T72A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	C	9: 90,053,787 (GRCm39)	I111L	possibly damaging	Het
Ankrd13a	A	T	5: 114,924,063 (GRCm39)	H53L	possibly damaging	Het
Becn1	T	C	11: 101,185,811 (GRCm39)	D145G	possibly damaging	Het
Bod1l	A	G	5: 41,974,942 (GRCm39)	V2124A	probably benign	Het
Celsr1	C	T	15: 85,914,692 (GRCm39)	A1094T	probably damaging	Het
Clstn2	A	T	9: 97,365,128 (GRCm39)	Y459*	probably null	Het
Cnksr3	A	G	10: 7,104,281 (GRCm39)		probably null	Het
Cux2	A	T	5: 122,003,991 (GRCm39)	F1048L	probably benign	Het
Cybrd1	A	G	2: 70,960,050 (GRCm39)	K83E	probably damaging	Het
Dpp8	A	T	9: 64,962,294 (GRCm39)		probably benign	Het
Eef2	T	A	10: 81,017,777 (GRCm39)	V813E	possibly damaging	Het
Eef2	A	T	10: 81,017,816 (GRCm39)		probably null	Het
Etnk1	T	G	6: 143,126,392 (GRCm39)	I79S	probably damaging	Het
Fam151a	A	G	4: 106,604,790 (GRCm39)	N384S	possibly damaging	Het
Fam83c	A	G	2: 155,676,362 (GRCm39)	L136P	probably damaging	Het
Gfra2	G	A	14: 71,133,292 (GRCm39)	V41I	probably benign	Het
Mroh9	A	G	1: 162,908,144 (GRCm39)	I2T	probably benign	Het
Muc2	A	G	7: 141,306,132 (GRCm39)	I274V	probably benign	Het
Nacad	T	G	11: 6,548,279 (GRCm39)	E1456A	possibly damaging	Het
Npy4r	T	A	14: 33,868,614 (GRCm39)	I225F	possibly damaging	Het
Or3a1b	T	G	11: 74,012,160 (GRCm39)	F15C	probably damaging	Het
Pik3c2a	T	C	7: 115,973,038 (GRCm39)	D719G	possibly damaging	Het
Pparg	G	T	6: 115,449,915 (GRCm39)	V305L	possibly damaging	Het
Rictor	A	G	15: 6,738,119 (GRCm39)	N19D	probably benign	Het
Slc4a1	T	C	11: 102,248,790 (GRCm39)	T292A	probably benign	Het
Slc6a11	C	T	6: 114,111,626 (GRCm39)	T103M	probably damaging	Het
Sorl1	A	G	9: 41,935,774 (GRCm39)		probably benign	Het
Tal1	T	C	4: 114,925,489 (GRCm39)	V186A	probably benign	Het
Top6bl	T	C	19: 4,709,510 (GRCm39)	T318A	possibly damaging	Het
Trpm1	T	A	7: 63,860,578 (GRCm39)		probably benign	Het
Tyw5	A	T	1: 57,427,712 (GRCm39)	Y297*	probably null	Het
Unc79	C	A	12: 103,128,126 (GRCm39)	Q2131K	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
IGL00848:Cdcp3	APN	7	130,848,453 (GRCm39)	missense	probably damaging	1.00
IGL00966:Cdcp3	APN	7	130,844,836 (GRCm39)	nonsense	probably null
IGL01286:Cdcp3	APN	7	130,848,432 (GRCm39)	missense	probably damaging	1.00
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

2013-10-07