Mutagenetix > Incidental Mutation

Incidental Mutation 'R6432:Cdcp3'

518590

Institutional Source

Beutler Lab

Gene Symbol

Cdcp3

Ensembl Gene

ENSMUSG00000006204

Gene Name

CUB domain containing protein 3

Synonyms

5430419D17Rik

MMRRC Submission

044570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6432 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130776131-130908180 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 130846601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000050586

SMART Domains

Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204

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 null
Transcript: ENSMUST00000208921

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora3	T	A	3: 105,814,991 (GRCm39)	L101*	probably null	Het
Atf7ip2	T	C	16: 10,022,534 (GRCm39)	I71T	probably damaging	Het
Atp2c1	A	G	9: 105,322,512 (GRCm39)	C206R	probably damaging	Het
Cacna1d	A	G	14: 29,845,411 (GRCm39)	L606P	probably damaging	Het
Cass4	T	C	2: 172,269,639 (GRCm39)	F574L	probably damaging	Het
Col17a1	C	A	19: 47,668,847 (GRCm39)	E126*	probably null	Het
Cxadr	A	C	16: 78,122,147 (GRCm39)	D49A	probably damaging	Het
Dact1	T	C	12: 71,365,327 (GRCm39)	S703P	probably damaging	Het
Dchs2	T	A	3: 83,178,425 (GRCm39)	H1159Q	possibly damaging	Het
Dnmt3a	T	A	12: 3,952,399 (GRCm39)	F697I	probably damaging	Het
Dnpep	T	A	1: 75,292,022 (GRCm39)	K199N	probably benign	Het
Ear2	G	T	14: 44,340,660 (GRCm39)	C106F	probably damaging	Het
Gnl2	A	T	4: 124,946,353 (GRCm39)	I525F	possibly damaging	Het
Hsph1	C	A	5: 149,542,441 (GRCm39)	K692N	probably damaging	Het
Itga6	T	A	2: 71,664,116 (GRCm39)	C489S	possibly damaging	Het
Kdm2b	C	T	5: 123,018,254 (GRCm39)	C1007Y	probably damaging	Het
Ly6m	T	C	15: 74,751,813 (GRCm39)	T74A	probably benign	Het
Mast4	T	C	13: 103,042,185 (GRCm39)	S22G	possibly damaging	Het
Ms4a12	A	G	19: 11,192,376 (GRCm39)	*264Q	probably null	Het
Myh8	G	T	11: 67,189,405 (GRCm39)	A1194S	probably benign	Het
Ncapd3	T	A	9: 26,955,805 (GRCm39)	N131K	probably damaging	Het
Or10g6	T	C	9: 39,933,824 (GRCm39)	I45T	probably damaging	Het
Or5w13	A	T	2: 87,523,872 (GRCm39)	M118K	probably damaging	Het
Rbm14	G	T	19: 4,853,191 (GRCm39)		probably benign	Het
Rnf130	T	A	11: 49,986,617 (GRCm39)	C320*	probably null	Het
Rnf5	A	G	17: 34,821,101 (GRCm39)	V77A	possibly damaging	Het
Sh3pxd2a	G	T	19: 47,258,366 (GRCm39)	P418T	probably damaging	Het
Shank3	G	T	15: 89,387,616 (GRCm39)	V262F	possibly damaging	Het
Six5	T	A	7: 18,830,696 (GRCm39)	V441E	probably damaging	Het
Tbc1d9b	T	A	11: 50,037,155 (GRCm39)	I268N	probably benign	Het
Terb1	G	A	8: 105,212,078 (GRCm39)	T301I	possibly damaging	Het
Tnxb	A	C	17: 34,936,891 (GRCm39)	D2820A	probably damaging	Het
Tram2	C	T	1: 21,074,457 (GRCm39)	E242K	possibly damaging	Het
Trps1	T	C	15: 50,694,793 (GRCm39)	K210E	probably damaging	Het
Tulp2	T	A	7: 45,168,012 (GRCm39)	D141E	probably benign	Het
Umodl1	C	T	17: 31,205,121 (GRCm39)	T572I	probably benign	Het
Upf2	C	A	2: 5,984,588 (GRCm39)	A501E	unknown	Het
Vmn2r102	A	G	17: 19,901,483 (GRCm39)	T537A	possibly damaging	Het
Wdr11	T	A	7: 129,208,242 (GRCm39)	D332E	possibly damaging	Het
Wdr38	A	G	2: 38,890,723 (GRCm39)	N199S	probably damaging	Het
Zfp672	T	A	11: 58,207,758 (GRCm39)	I188F	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCCCAGAATTGCATCACTC -3'
(R):5'- TGCAGTATTTGTACAGGATGCATG -3'

Sequencing Primer
(F):5'- ATTGCATCACTCTCCATGGGGAAG -3'
(R):5'- TTGGTAACCTGACCCCCATGG -3'

Posted On

2018-05-24