Mutagenetix > Incidental Mutation

Incidental Mutation 'R8742:Cdcp3'

663288

Institutional Source

Beutler Lab

Gene Symbol

Cdcp3

Ensembl Gene

ENSMUSG00000006204

Gene Name

CUB domain containing protein 3

Synonyms

5430419D17Rik

MMRRC Submission

068587-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8742 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130776131-130908180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130783741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 45 (I45V)

Ref Sequence

ENSEMBL: ENSMUSP00000061529 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000050586
AA Change: I45V

SMART Domains

Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204
AA Change: I45V

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: I45V

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,265,835 (GRCm39)	I893V	probably benign	Het
Adhfe1	A	G	1: 9,630,401 (GRCm39)	I317V	probably benign	Het
Adnp2	A	G	18: 80,171,556 (GRCm39)	V951A	probably damaging	Het
Ankrd35	T	A	3: 96,586,502 (GRCm39)	H59Q	probably damaging	Het
Atg16l1	C	T	1: 87,694,620 (GRCm39)	T161I	probably damaging	Het
Axl	A	G	7: 25,463,861 (GRCm39)	V591A	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Ceacam13	T	A	7: 17,743,934 (GRCm39)	S14T	probably damaging	Het
Cfh	A	T	1: 140,029,390 (GRCm39)	F986L	probably damaging	Het
Cfh	G	T	1: 140,064,469 (GRCm39)	T393K	probably damaging	Het
Clic1	A	G	17: 35,274,356 (GRCm39)	N179S	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dst	T	A	1: 34,251,425 (GRCm39)	D2159E	probably benign	Het
Epn3	T	G	11: 94,386,921 (GRCm39)	T150P	probably damaging	Het
Fgr	T	C	4: 132,724,828 (GRCm39)	Y310H	probably damaging	Het
Filip1l	A	G	16: 57,391,593 (GRCm39)	Y727C	probably damaging	Het
Fis1	G	T	5: 136,982,365 (GRCm39)		probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gdf10	A	T	14: 33,654,426 (GRCm39)	H311L	probably benign	Het
Gphn	C	T	12: 78,659,766 (GRCm39)	R423C	probably damaging	Het
Gpr132	T	C	12: 112,819,517 (GRCm39)		probably benign	Het
Herc2	C	A	7: 55,744,143 (GRCm39)	T406K	probably benign	Het
Hpf1	T	C	8: 61,346,748 (GRCm39)	V21A	probably benign	Het
Ifitm6	A	G	7: 140,596,008 (GRCm39)	I75T	probably benign	Het
Itgax	A	T	7: 127,743,795 (GRCm39)	H852L	probably benign	Het
Klhl3	T	C	13: 58,159,021 (GRCm39)	Y546C	probably damaging	Het
Lbr	A	G	1: 181,644,571 (GRCm39)	L578P	possibly damaging	Het
Ltbp1	A	G	17: 75,617,217 (GRCm39)	Y734C	probably damaging	Het
Mapre2	C	A	18: 24,016,688 (GRCm39)	H281N	probably benign	Het
Mcm4	T	C	16: 15,443,430 (GRCm39)	D831G	possibly damaging	Het
Mlf1	G	A	3: 67,305,119 (GRCm39)	A207T	probably damaging	Het
Mslnl	A	T	17: 25,964,047 (GRCm39)	I459F	probably damaging	Het
Mtnr1a	A	G	8: 45,540,720 (GRCm39)	D227G	probably benign	Het
Ncapg	T	A	5: 45,851,216 (GRCm39)	L803Q	probably damaging	Het
Nr3c2	T	G	8: 77,635,210 (GRCm39)	S104A	probably damaging	Het
Or4k52	A	G	2: 111,610,910 (GRCm39)	I82V	probably benign	Het
Pard3	C	T	8: 128,050,592 (GRCm39)	A218V	possibly damaging	Het
Poteg	A	T	8: 27,984,957 (GRCm39)	N439Y	possibly damaging	Het
Pramel34	T	A	5: 93,785,935 (GRCm39)	D115V	probably damaging	Het
Ret	A	T	6: 118,155,484 (GRCm39)	L404Q	probably damaging	Het
Ripk4	A	T	16: 97,556,272 (GRCm39)	V157D	probably damaging	Het
Rsf1	CGGCGGCGGCGGCGGCGGCGGC	CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,121 (GRCm39)		probably benign	Het
Serinc1	A	T	10: 57,395,895 (GRCm39)	N298K	probably benign	Het
Sh3pxd2a	G	A	19: 47,275,073 (GRCm39)	S230L	probably benign	Het
Shb	G	C	4: 45,458,319 (GRCm39)	R282G	probably benign	Het
Skint11	T	C	4: 114,051,922 (GRCm39)	I90T	probably damaging	Het
Slc36a4	A	G	9: 15,632,039 (GRCm39)	T72A	probably damaging	Het
Slc38a9	T	A	13: 112,865,818 (GRCm39)	I505K	probably damaging	Het
Sprr3	C	T	3: 92,364,307 (GRCm39)	R179H	possibly damaging	Het
Syne1	A	T	10: 5,058,661 (GRCm39)	I7284N	probably benign	Het
Timeless	A	T	10: 128,083,107 (GRCm39)	T648S	probably benign	Het
Trim44	A	G	2: 102,230,521 (GRCm39)	M170T	possibly damaging	Het
Trpm7	A	G	2: 126,667,469 (GRCm39)	F815L	probably damaging	Het
Uimc1	A	G	13: 55,240,971 (GRCm39)	L39S	possibly damaging	Het
Vmn2r13	T	C	5: 109,304,263 (GRCm39)	T723A	probably benign	Het
Vps11	A	G	9: 44,267,070 (GRCm39)		probably benign	Het
Zp3r	A	T	1: 130,511,230 (GRCm39)	C383S	probably 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
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
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'- TAGCTGCGAATTCAGATCCCC -3'
(R):5'- CTTGGGCACAAAGAATACTGG -3'

Sequencing Primer
(F):5'- ACACCTTGCTCTGCTGGG -3'
(R):5'- ACAAAGAATACTGGGGTGTGTTTATG -3'

Posted On

2021-03-08