Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01953:Cdcp3'

181334

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 #

IGL01953

Quality Score

Status

Chromosome

Chromosomal Location

130776131-130908180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130826709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 261 (M261T)

Ref Sequence

ENSEMBL: ENSMUSP00000061529 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050586
AA Change: M261T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204
AA Change: M261T

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

unknown
Transcript: ENSMUST00000128522
AA Change: M134T

Predicted Effect

probably benign
Transcript: ENSMUST00000208921
AA Change: M261T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	G	A	16: 4,778,408 (GRCm39)	A8V	probably damaging	Het
Atp6v0a4	A	G	6: 38,031,552 (GRCm39)	S650P	probably damaging	Het
B3glct	C	A	5: 149,669,000 (GRCm39)	D311E	probably benign	Het
Cc2d1a	G	A	8: 84,870,607 (GRCm39)	P119S	probably benign	Het
Chdh	T	C	14: 29,757,304 (GRCm39)	V409A	probably benign	Het
Cipc	T	A	12: 86,999,538 (GRCm39)	V4E	possibly damaging	Het
Dock2	G	T	11: 34,623,183 (GRCm39)	T70K	probably benign	Het
Dpf1	T	C	7: 29,013,732 (GRCm39)	V269A	probably damaging	Het
Drc7	A	T	8: 95,785,753 (GRCm39)	Y203F	probably damaging	Het
Dsg3	C	T	18: 20,658,361 (GRCm39)	T324I	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Iqcd	A	T	5: 120,738,554 (GRCm39)	N124I	probably benign	Het
Kdm7a	T	C	6: 39,123,836 (GRCm39)	N776S	probably benign	Het
Lama5	C	T	2: 179,832,497 (GRCm39)	R1684H	probably damaging	Het
Lrp12	A	T	15: 39,741,497 (GRCm39)	V406D	probably damaging	Het
Lrrc74a	T	A	12: 86,788,494 (GRCm39)	L158Q	probably damaging	Het
Mef2d	C	T	3: 88,063,813 (GRCm39)	T80I	probably damaging	Het
Megf11	T	C	9: 64,597,370 (GRCm39)	C681R	probably damaging	Het
Mex3c	A	G	18: 73,723,104 (GRCm39)	D399G	probably damaging	Het
Muc20	T	C	16: 32,614,073 (GRCm39)	T435A	probably benign	Het
Myo5b	T	C	18: 74,702,838 (GRCm39)	Y10H	possibly damaging	Het
Or12d13	T	C	17: 37,647,766 (GRCm39)	D119G	probably damaging	Het
Or4k40	A	G	2: 111,250,657 (GRCm39)	L213P	probably benign	Het
Otoa	T	A	7: 120,759,548 (GRCm39)		probably null	Het
P4ha2	T	C	11: 54,004,996 (GRCm39)	F124S	probably benign	Het
Phkg2	C	T	7: 127,181,512 (GRCm39)	P232S	probably damaging	Het
Piezo1	T	A	8: 123,217,923 (GRCm39)	Q800L	probably damaging	Het
Pign	C	A	1: 105,516,764 (GRCm39)		probably benign	Het
Pik3r5	A	G	11: 68,384,997 (GRCm39)	D634G	probably benign	Het
Ptpn9	A	G	9: 56,964,072 (GRCm39)	T402A	possibly damaging	Het
Relb	A	C	7: 19,349,482 (GRCm39)		probably null	Het
Scgb1b30	A	G	7: 33,799,302 (GRCm39)	Q78R	probably damaging	Het
Sema6a	C	T	18: 47,423,187 (GRCm39)	W273*	probably null	Het
Sestd1	A	G	2: 77,042,813 (GRCm39)	V247A	possibly damaging	Het
Specc1	T	A	11: 62,009,122 (GRCm39)	S293T	probably benign	Het
Sptbn2	A	G	19: 4,799,721 (GRCm39)	D2145G	probably benign	Het
Trim43b	T	A	9: 88,967,496 (GRCm39)	D380V	possibly damaging	Het
Vmn1r236	A	G	17: 21,507,473 (GRCm39)	Y197C	possibly damaging	Het
Vmn1r79	A	G	7: 11,910,382 (GRCm39)	Y88C	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r61	G	A	7: 41,949,613 (GRCm39)	V678M	probably damaging	Het
Wdfy3	A	T	5: 102,042,894 (GRCm39)	Y1937*	probably null	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
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
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

2014-05-07