Incidental Mutation 'R0011:Cdcp3'
ID 63216
Institutional Source Beutler Lab
Gene Symbol Cdcp3
Ensembl Gene ENSMUSG00000006204
Gene Name CUB domain containing protein 3
Synonyms 5430419D17Rik
MMRRC Submission 038306-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0011 (G1)
Quality Score 88
Status Validated
Chromosome 7
Chromosomal Location 130776131-130908180 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130831722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 389 (L389Q)
Ref Sequence ENSEMBL: ENSMUSP00000150784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050586] [ENSMUST00000124096] [ENSMUST00000208921]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000050586
AA Change: L389Q

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204
AA Change: L389Q

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: L262Q
Predicted Effect probably damaging
Transcript: ENSMUST00000208921
AA Change: L389Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,380,213 (GRCm39) Y344C probably damaging Het
Alox15 A G 11: 70,240,422 (GRCm39) V253A possibly damaging Het
Ank3 A G 10: 69,815,281 (GRCm39) probably benign Het
Art3 T A 5: 92,551,471 (GRCm39) Y17N probably damaging Het
Asic3 C T 5: 24,622,490 (GRCm39) probably benign Het
Bach2 G T 4: 32,244,655 (GRCm39) probably benign Het
Brip1 C A 11: 86,077,824 (GRCm39) K201N possibly damaging Het
Ccdc88a T C 11: 29,324,364 (GRCm39) F6S probably damaging Het
Celsr2 A G 3: 108,320,718 (GRCm39) I698T probably benign Het
Cenpf A G 1: 189,382,903 (GRCm39) S2664P probably benign Het
Cfap54 A T 10: 92,901,087 (GRCm39) C156S probably damaging Het
Cops4 C A 5: 100,675,847 (GRCm39) Q28K probably benign Het
Cyb5a T A 18: 84,895,947 (GRCm39) probably benign Het
Diaph3 A T 14: 87,103,844 (GRCm39) C847S probably damaging Het
Dnah3 T C 7: 119,618,924 (GRCm39) K1648R probably damaging Het
Dnai7 T A 6: 145,124,781 (GRCm39) M515L probably damaging Het
Emilin2 C T 17: 71,580,863 (GRCm39) G621E probably benign Het
Enpp1 T A 10: 24,545,900 (GRCm39) K228* probably null Het
Epg5 T C 18: 77,991,698 (GRCm39) C132R probably benign Het
Epha7 G A 4: 28,962,564 (GRCm39) D961N probably benign Het
G6pc2 C A 2: 69,056,909 (GRCm39) probably benign Het
Gm7361 C T 5: 26,463,876 (GRCm39) probably benign Het
Grin2c T C 11: 115,146,576 (GRCm39) Y476C probably damaging Het
Hnrnpul1 T G 7: 25,442,340 (GRCm39) probably benign Het
Igf2bp1 T C 11: 95,896,410 (GRCm39) D17G probably damaging Het
Insrr T C 3: 87,716,923 (GRCm39) C688R possibly damaging Het
Itgb2l T C 16: 96,228,861 (GRCm39) probably benign Het
Kidins220 T A 12: 25,049,351 (GRCm39) V322E probably damaging Het
Klk1 C T 7: 43,878,959 (GRCm39) T149I probably benign Het
Mbd3l1 A G 9: 18,395,863 (GRCm39) probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mrc1 T C 2: 14,266,148 (GRCm39) probably null Het
Mtr T C 13: 12,252,938 (GRCm39) probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Npy4r C T 14: 33,868,680 (GRCm39) V203M probably damaging Het
Or8g52 T A 9: 39,630,923 (GRCm39) N133K probably benign Het
Pik3r4 C A 9: 105,521,836 (GRCm39) T134K probably benign Het
Rdh19 T A 10: 127,692,780 (GRCm39) L149Q probably damaging Het
Sema3e C T 5: 14,194,025 (GRCm39) R85* probably null Het
Shtn1 A G 19: 59,020,650 (GRCm39) S191P possibly damaging Het
Slc39a11 A T 11: 113,138,659 (GRCm39) F279L probably benign Het
Slc4a1 T C 11: 102,247,936 (GRCm39) K353E possibly damaging Het
Slc6a18 A T 13: 73,813,738 (GRCm39) M515K possibly damaging Het
Snapc4 A G 2: 26,254,825 (GRCm39) I1225T probably benign Het
Spidr A T 16: 15,784,467 (GRCm39) W534R probably benign Het
Tmem202 T A 9: 59,432,084 (GRCm39) N81I probably benign Het
Tnfrsf1b T G 4: 144,949,536 (GRCm39) R297S possibly damaging Het
Trim55 A G 3: 19,725,163 (GRCm39) T227A probably benign Het
Trim58 A T 11: 58,533,946 (GRCm39) T167S probably benign Het
Trp53i11 A T 2: 93,029,698 (GRCm39) probably benign Het
Ttn T C 2: 76,640,699 (GRCm39) H5356R probably damaging Het
Tyrp1 C T 4: 80,759,030 (GRCm39) T301I probably damaging Het
Wdr17 A T 8: 55,125,536 (GRCm39) I448K possibly damaging Het
Wscd1 T C 11: 71,679,654 (GRCm39) V509A probably damaging Het
Zfp251 A G 15: 76,738,754 (GRCm39) V108A probably benign Het
Other mutations in Cdcp3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GTGTTAAGAACAGTCCCCACAGCC -3'
(R):5'- ATGCTCATGCAGAAACCCTGCC -3'

Sequencing Primer
(F):5'- CCACAGCCTTTAGAAAATGATGG -3'
(R):5'- cgggaagcagaggcaag -3'
Posted On 2013-07-30