Mutagenetix > Incidental Mutation

Incidental Mutation 'R9323:Cdcp3'

706319

Institutional Source

Beutler Lab

Gene Symbol

Cdcp3

Ensembl Gene

ENSMUSG00000006204

Gene Name

CUB domain containing protein 3

Synonyms

5430419D17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9323 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130776131-130908180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130828401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 285 (N285K)

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 damaging
Transcript: ENSMUST00000050586
AA Change: N285K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204
AA Change: N285K

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

possibly damaging
Transcript: ENSMUST00000128522
AA Change: N158K

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208921
AA Change: N285K

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	G	A	16: 8,420,235 (GRCm39)	W178*	probably null	Het
Alx1	G	A	10: 102,858,124 (GRCm39)	R192*	probably null	Het
Apom	A	G	17: 35,350,633 (GRCm39)	C23R	probably damaging	Het
Asap2	A	G	12: 21,162,148 (GRCm39)	N35S	probably benign	Het
Atf6	A	T	1: 170,682,682 (GRCm39)	Y43*	probably null	Het
Atosa	C	T	9: 74,883,415 (GRCm39)		probably benign	Het
Bag4	T	C	8: 26,261,361 (GRCm39)	S127G	possibly damaging	Het
Bag4	G	T	8: 26,275,180 (GRCm39)	S7*	probably null	Het
Ccdc88b	A	G	19: 6,826,475 (GRCm39)	L1080P	probably damaging	Het
Cdkl2	A	T	5: 92,168,107 (GRCm39)	D362E	probably benign	Het
Cep170	A	G	1: 176,586,068 (GRCm39)	S575P	probably benign	Het
Col4a2	C	T	8: 11,493,413 (GRCm39)	P1374L	possibly damaging	Het
Cpt2	T	C	4: 107,761,556 (GRCm39)	H617R	probably benign	Het
Cyp2d22	A	G	15: 82,258,207 (GRCm39)	S138P	probably damaging	Het
Cyp2j11	T	C	4: 96,195,619 (GRCm39)	D359G	probably benign	Het
Ddb2	T	C	2: 91,042,337 (GRCm39)	S419G	possibly damaging	Het
Dmrtc2	A	T	7: 24,572,341 (GRCm39)	I121F	probably benign	Het
Dus1l	C	T	11: 120,684,724 (GRCm39)	R149H	probably damaging	Het
Fam90a1a	T	A	8: 22,453,640 (GRCm39)	Y332N	probably benign	Het
Fbxo47	A	T	11: 97,770,254 (GRCm39)	V46D	probably benign	Het
Grep1	A	G	17: 23,937,387 (GRCm39)	S54P	unknown	Het
Grpel1	T	A	5: 36,628,007 (GRCm39)	V96E	possibly damaging	Het
Ifi207	A	T	1: 173,555,143 (GRCm39)	N853K	probably damaging	Het
Igkv4-80	C	T	6: 68,993,751 (GRCm39)	A47T	probably damaging	Het
Il1a	T	A	2: 129,149,826 (GRCm39)	I25F	probably benign	Het
Ireb2	T	A	9: 54,811,523 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,328,979 (GRCm39)	Y131C	probably damaging	Het
Kmt2a	T	C	9: 44,731,261 (GRCm39)		probably benign	Het
Lancl1	T	A	1: 67,077,794 (GRCm39)		probably benign	Het
Lpl	G	A	8: 69,340,196 (GRCm39)	V64M	possibly damaging	Het
Marchf10	T	C	11: 105,280,581 (GRCm39)	H568R	probably damaging	Het
Mib1	G	A	18: 10,775,685 (GRCm39)	V546M	probably damaging	Het
Mss51	A	T	14: 20,534,939 (GRCm39)	I277N	probably benign	Het
Mybpc1	A	G	10: 88,360,829 (GRCm39)		probably null	Het
Myct1	A	C	10: 5,554,195 (GRCm39)	I21L	probably benign	Het
Myo5c	C	A	9: 75,153,531 (GRCm39)	A139E	probably damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Npy2r	A	T	3: 82,447,728 (GRCm39)	I349N	possibly damaging	Het
Nrap	T	C	19: 56,378,255 (GRCm39)	I19V	probably benign	Het
Or10g7	T	C	9: 39,905,360 (GRCm39)	S85P	possibly damaging	Het
Or14j2	A	C	17: 37,886,135 (GRCm39)	Y60D	probably damaging	Het
Or52n20	T	C	7: 104,320,220 (GRCm39)	F104L	possibly damaging	Het
Or5p6	C	T	7: 107,631,230 (GRCm39)	V107I	probably benign	Het
Or6c3b	A	T	10: 129,527,829 (GRCm39)	V27D	probably benign	Het
Or8d23	T	C	9: 38,841,818 (GRCm39)	V117A	probably benign	Het
Pde6b	A	T	5: 108,551,298 (GRCm39)	N194I	probably damaging	Het
Polg	TCTGGATGA	TCTGGATGACTGGATGA	7: 79,114,779 (GRCm39)		probably null	Het
Polg	GA	GACTGGAGCA	7: 79,114,786 (GRCm39)		probably null	Het
Ptpn9	T	C	9: 56,934,701 (GRCm39)	M155T	possibly damaging	Het
Ret	A	G	6: 118,158,975 (GRCm39)	Y146H	probably benign	Het
Sdf2l1	T	C	16: 16,949,498 (GRCm39)	H116R	probably damaging	Het
Shld2	A	G	14: 33,981,596 (GRCm39)	V514A	probably damaging	Het
Slc37a1	T	C	17: 31,552,643 (GRCm39)	I316T	probably damaging	Het
Slc4a11	A	C	2: 130,528,830 (GRCm39)	L473R	possibly damaging	Het
Smg7	A	G	1: 152,731,753 (GRCm39)	M344T	probably benign	Het
Smg9	T	C	7: 24,114,465 (GRCm39)	L268P	probably damaging	Het
Tiparp	C	T	3: 65,439,272 (GRCm39)	T196I	probably benign	Het
Trappc12	A	G	12: 28,742,491 (GRCm39)		probably null	Het
Trappc9	A	T	15: 72,565,431 (GRCm39)	N953K	probably benign	Het
Trpa1	A	G	1: 14,968,564 (GRCm39)	V428A	probably benign	Het
Utp20	T	C	10: 88,583,170 (GRCm39)	R2728G	probably damaging	Het
Zfp612	A	G	8: 110,815,372 (GRCm39)	E193G	probably benign	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
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
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'- ACTGAACAATACACACTAAAGCTTT -3'
(R):5'- ATATGAGGACCAGCGTAGGGAT -3'

Sequencing Primer
(F):5'- AGCTACCTATGTGAGTCCAGTTAG -3'
(R):5'- TGAACAGTTAAAATGTTGAACTGCAC -3'

Posted On

2022-04-18