Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03343:Cdcp3'

417334

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 #

IGL03343

Quality Score

Status

Chromosome

Chromosomal Location

130776131-130908180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130848420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 858 (I858N)

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: I742N

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

SMART Domains

Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204
AA Change: I742N

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: I858N

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	A	G	7: 66,725,064 (GRCm39)	H795R	probably damaging	Het
Adgrl2	A	T	3: 148,565,016 (GRCm39)	I188K	probably damaging	Het
Adgrv1	A	G	13: 81,431,507 (GRCm39)	Y5974H	probably damaging	Het
Angpt4	A	G	2: 151,778,623 (GRCm39)	T336A	probably damaging	Het
Arhgap30	C	A	1: 171,236,662 (GRCm39)	T1012N	probably damaging	Het
Asl	A	T	5: 130,040,908 (GRCm39)	Y178N	probably damaging	Het
Brd1	C	A	15: 88,591,454 (GRCm39)	L714F	possibly damaging	Het
Ccdc47	A	G	11: 106,095,788 (GRCm39)	S303P	probably damaging	Het
Cdk16	A	G	X: 20,561,998 (GRCm39)	K264E	probably damaging	Het
Cenpc1	A	T	5: 86,164,181 (GRCm39)	F813L	probably damaging	Het
Cfp	A	C	X: 20,794,248 (GRCm39)	F291C	possibly damaging	Het
Chordc1	T	G	9: 18,223,762 (GRCm39)	F276V	probably damaging	Het
Clic4	C	T	4: 134,945,889 (GRCm39)	R176H	possibly damaging	Het
Fcer1a	T	G	1: 173,053,040 (GRCm39)	N52T	possibly damaging	Het
Fndc7	A	T	3: 108,774,624 (GRCm39)	C545S	probably damaging	Het
Frem2	T	C	3: 53,559,674 (GRCm39)	D1611G	probably damaging	Het
Fryl	G	A	5: 73,234,038 (GRCm39)	P1496S	probably benign	Het
Gga3	A	T	11: 115,483,312 (GRCm39)	N82K	probably damaging	Het
Gm43638	G	A	5: 87,608,484 (GRCm39)	P452S	possibly damaging	Het
Gpn1	T	C	5: 31,662,309 (GRCm39)	S244P	probably damaging	Het
Hspa12a	T	C	19: 58,787,828 (GRCm39)	S665G	probably benign	Het
Htt	A	G	5: 34,983,385 (GRCm39)	I995V	probably benign	Het
Iars1	A	T	13: 49,878,223 (GRCm39)	I916L	probably benign	Het
Ice1	C	A	13: 70,751,048 (GRCm39)	L1679F	probably damaging	Het
Inpp1	A	T	1: 52,838,486 (GRCm39)	D54E	probably damaging	Het
Irf2bpl	T	C	12: 86,929,713 (GRCm39)	E320G	possibly damaging	Het
Itprid1	T	G	6: 55,945,569 (GRCm39)	D763E	probably damaging	Het
Kcnn2	T	C	18: 45,810,026 (GRCm39)	V421A	probably damaging	Het
Micu2	A	G	14: 58,154,768 (GRCm39)	V419A	probably benign	Het
Nek9	C	T	12: 85,350,383 (GRCm39)	C897Y	probably damaging	Het
Ofcc1	A	C	13: 40,226,140 (GRCm39)	H797Q	probably benign	Het
Or12d17	G	A	17: 37,777,300 (GRCm39)	D68N	probably damaging	Het
Or2y16	C	A	11: 49,335,070 (GRCm39)	H131N	probably damaging	Het
Or5m12	T	C	2: 85,735,285 (GRCm39)	T38A	probably benign	Het
Or6c69c	T	G	10: 129,911,125 (GRCm39)	L282R	probably damaging	Het
Pakap	C	T	4: 57,688,502 (GRCm39)	T115M	probably damaging	Het
Papss1	G	A	3: 131,288,950 (GRCm39)	G151S	probably benign	Het
Plxnb1	A	G	9: 108,943,780 (GRCm39)	T1956A	probably damaging	Het
Pomt1	A	G	2: 32,143,724 (GRCm39)		probably benign	Het
Ppfibp2	T	A	7: 107,337,126 (GRCm39)	Y570*	probably null	Het
Ppp1r9a	A	G	6: 5,046,015 (GRCm39)	E493G	probably damaging	Het
Ptk2b	A	G	14: 66,406,870 (GRCm39)	F621L	probably benign	Het
Ptpn13	G	T	5: 103,702,816 (GRCm39)	D1261Y	possibly damaging	Het
Ptprd	C	T	4: 75,977,966 (GRCm39)	G181D	probably damaging	Het
Rabgap1l	T	C	1: 160,270,853 (GRCm39)	T645A	probably benign	Het
Slc2a7	T	C	4: 150,252,797 (GRCm39)	I479T	probably damaging	Het
Smc3	A	G	19: 53,602,273 (GRCm39)	N40S	probably damaging	Het
Spata31	A	T	13: 65,067,587 (GRCm39)	D83V	probably benign	Het
Sptb	C	T	12: 76,630,330 (GRCm39)		probably benign	Het
Ssc4d	A	T	5: 135,990,028 (GRCm39)	C493*	probably null	Het
Styxl2	T	C	1: 165,927,017 (GRCm39)	D865G	probably benign	Het
Ubr2	C	A	17: 47,262,844 (GRCm39)	V1256L	probably benign	Het
Ubr3	T	C	2: 69,803,490 (GRCm39)		probably benign	Het
Vmn2r105	C	T	17: 20,446,631 (GRCm39)	W456*	probably null	Het
Vmn2r24	T	A	6: 123,793,070 (GRCm39)	I799N	probably damaging	Het
Vps13b	G	A	15: 35,917,316 (GRCm39)	G3720D	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
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
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

2016-08-02