Incidental Mutation 'R7395:Dip2c'
ID 573769
Institutional Source Beutler Lab
Gene Symbol Dip2c
Ensembl Gene ENSMUSG00000048264
Gene Name disco interacting protein 2 homolog C
Synonyms 2900024P20Rik
MMRRC Submission 045477-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.589) question?
Stock # R7395 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 9326564-9718964 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 9664413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 942 (N942T)
Ref Sequence ENSEMBL: ENSMUSP00000133806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166299] [ENSMUST00000169960] [ENSMUST00000174552]
AlphaFold E9PWR4
Predicted Effect probably damaging
Transcript: ENSMUST00000166299
AA Change: N943T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126827
Gene: ENSMUSG00000048264
AA Change: N943T

DomainStartEndE-ValueType
DMAP_binding 7 120 3.55e-43 SMART
low complexity region 170 187 N/A INTRINSIC
low complexity region 275 287 N/A INTRINSIC
Pfam:AMP-binding 324 801 3.6e-23 PFAM
Pfam:AMP-binding 977 1451 1.5e-72 PFAM
low complexity region 1514 1526 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169960
AA Change: N913T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131238
Gene: ENSMUSG00000048264
AA Change: N913T

DomainStartEndE-ValueType
DMAP_binding 7 176 3.02e-37 SMART
low complexity region 226 243 N/A INTRINSIC
low complexity region 331 343 N/A INTRINSIC
Pfam:AMP-binding 380 637 5.9e-10 PFAM
SCOP:d1lci__ 675 875 2e-8 SMART
Pfam:AMP-binding 947 1421 1.2e-56 PFAM
low complexity region 1484 1496 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000174552
AA Change: N942T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133806
Gene: ENSMUSG00000048264
AA Change: N942T

DomainStartEndE-ValueType
DMAP_binding 7 120 3.55e-43 SMART
low complexity region 170 187 N/A INTRINSIC
low complexity region 275 287 N/A INTRINSIC
Pfam:AMP-binding 324 800 2.7e-20 PFAM
Pfam:AMP-binding 976 1450 1.3e-56 PFAM
low complexity region 1513 1525 N/A INTRINSIC
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (92/93)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830403N18Rik G T X: 55,184,140 (GRCm39) probably null Het
4930433I11Rik A T 7: 40,639,102 (GRCm39) T13S probably damaging Het
Abca13 A G 11: 9,241,658 (GRCm39) I1174V probably benign Het
Acoxl G A 2: 127,726,336 (GRCm39) V237M probably damaging Het
Adam33 A C 2: 130,903,089 (GRCm39) W52G probably benign Het
Adgrv1 T C 13: 81,707,467 (GRCm39) H1313R probably damaging Het
Ap3d1 T C 10: 80,566,716 (GRCm39) T89A probably benign Het
Armc8 T C 9: 99,415,185 (GRCm39) E165G probably damaging Het
Atp6v1c1 T C 15: 38,691,949 (GRCm39) *383Q probably null Het
Atp8b4 A T 2: 126,217,614 (GRCm39) L634Q possibly damaging Het
B3glct A G 5: 149,649,069 (GRCm39) probably null Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Bicd2 A G 13: 49,531,706 (GRCm39) D316G possibly damaging Het
Bop1 A T 15: 76,338,041 (GRCm39) S610T probably damaging Het
Car11 T A 7: 45,350,745 (GRCm39) Y80* probably null Het
Ccdc121rt2 A T 5: 112,598,035 (GRCm39) E194V possibly damaging Het
Ccdc96 T C 5: 36,642,609 (GRCm39) I205T probably benign Het
Ces2a A G 8: 105,466,273 (GRCm39) E390G probably benign Het
Cfap54 C A 10: 92,720,565 (GRCm39) V2630L unknown Het
Chek2 G T 5: 111,019,974 (GRCm39) probably null Het
Cntn3 C T 6: 102,314,355 (GRCm39) probably null Het
Cpne3 A T 4: 19,528,239 (GRCm39) D339E probably damaging Het
Crocc2 C T 1: 93,143,829 (GRCm39) Q1403* probably null Het
Crppa A T 12: 36,551,994 (GRCm39) I283F possibly damaging Het
Csnka2ip G A 16: 64,299,803 (GRCm39) T187I Het
Ctu1 A G 7: 43,326,019 (GRCm39) H226R possibly damaging Het
Cubn G T 2: 13,291,875 (GRCm39) Q3317K probably damaging Het
Cyp17a1 A G 19: 46,659,134 (GRCm39) L169P probably benign Het
Dcc T A 18: 71,507,640 (GRCm39) K911* probably null Het
Dcun1d2 G A 8: 13,328,675 (GRCm39) R75* probably null Het
Defb19 A T 2: 152,421,943 (GRCm39) probably null Het
Dffb A T 4: 154,053,570 (GRCm39) S257R probably damaging Het
Dnah3 T A 7: 119,565,474 (GRCm39) I169F Het
Dnah3 T C 7: 119,660,183 (GRCm39) M830V probably benign Het
Dnajc5g G A 5: 31,269,009 (GRCm39) S130N possibly damaging Het
Dscaml1 C A 9: 45,613,703 (GRCm39) Q939K possibly damaging Het
Evpl G C 11: 116,117,905 (GRCm39) N761K possibly damaging Het
Fbxw8 A T 5: 118,206,280 (GRCm39) I556N probably damaging Het
Fry G T 5: 150,304,348 (GRCm39) M579I possibly damaging Het
Ggt7 A T 2: 155,337,800 (GRCm39) M488K probably benign Het
Gnpnat1 T A 14: 45,619,038 (GRCm39) H107L probably benign Het
Golga2 C A 2: 32,195,599 (GRCm39) P798Q possibly damaging Het
Gpr35 G A 1: 92,910,929 (GRCm39) A214T probably damaging Het
Greb1 A T 12: 16,759,431 (GRCm39) probably null Het
Hdac10 G A 15: 89,012,487 (GRCm39) T32I probably benign Het
Hkdc1 G A 10: 62,221,478 (GRCm39) T860I probably damaging Het
Icam5 C A 9: 20,946,738 (GRCm39) P422Q possibly damaging Het
Ist1 A C 8: 110,404,159 (GRCm39) S238A probably benign Het
Lrig2 T C 3: 104,404,836 (GRCm39) N91D probably benign Het
Mapt A C 11: 104,218,949 (GRCm39) D352A probably damaging Het
Micall2 G A 5: 139,702,124 (GRCm39) P373L possibly damaging Het
Mocs1 A G 17: 49,761,585 (GRCm39) S560G possibly damaging Het
Mpo A G 11: 87,691,950 (GRCm39) D461G probably damaging Het
Myo1a G T 10: 127,546,309 (GRCm39) V271L probably damaging Het
Ncoa1 G A 12: 4,345,188 (GRCm39) P720S not run Het
Ncr1 T A 7: 4,341,150 (GRCm39) I47N probably damaging Het
Ndufb6 G A 4: 40,277,730 (GRCm39) R66C probably damaging Het
Obox5 A T 7: 15,492,668 (GRCm39) S208C probably damaging Het
Or10q1 T C 19: 13,726,502 (GRCm39) S11P probably damaging Het
Or2n1d A T 17: 38,646,755 (GRCm39) K236* probably null Het
Or5p75-ps1 T A 7: 108,107,611 (GRCm39) F116Y unknown Het
Or7d9 T A 9: 20,197,826 (GRCm39) M285K probably damaging Het
Padi4 A C 4: 140,488,983 (GRCm39) V152G probably damaging Het
Pdzd7 A T 19: 45,025,450 (GRCm39) D348E probably damaging Het
Pdzph1 T A 17: 59,186,154 (GRCm39) K1212N possibly damaging Het
Piezo2 C T 18: 63,160,634 (GRCm39) G2341R probably damaging Het
Plb1 A G 5: 32,511,028 (GRCm39) K1298E probably benign Het
Prr14l A G 5: 32,985,982 (GRCm39) L1171P probably benign Het
Rab11fip5 T C 6: 85,318,850 (GRCm39) T680A probably benign Het
Rev1 A T 1: 38,127,146 (GRCm39) N371K possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,133 (GRCm39) probably benign Het
Ryr2 A G 13: 11,799,997 (GRCm39) C917R probably damaging Het
Sall1 A T 8: 89,757,549 (GRCm39) S852T possibly damaging Het
Serpine2 A G 1: 79,779,272 (GRCm39) F296L probably damaging Het
Slc12a6 A T 2: 112,182,887 (GRCm39) N754I probably damaging Het
Slc39a6 A T 18: 24,718,332 (GRCm39) L575Q probably damaging Het
Smarcc2 T A 10: 128,321,475 (GRCm39) L890Q probably damaging Het
Smg5 T A 3: 88,268,378 (GRCm39) V1006D probably damaging Het
Ssh2 T C 11: 77,283,899 (GRCm39) V51A probably damaging Het
St14 T C 9: 31,008,195 (GRCm39) K547E probably benign Het
Stag1 T G 9: 100,678,781 (GRCm39) V234G probably damaging Het
Stag3 A T 5: 138,280,207 (GRCm39) Q24L probably benign Het
Stra6 T C 9: 58,048,380 (GRCm39) Y158H probably damaging Het
Tcstv1a A T 13: 120,355,666 (GRCm39) probably null Het
Tmem196 G A 12: 119,975,002 (GRCm39) C62Y probably damaging Het
Tmem265 T A 7: 127,164,039 (GRCm39) F84L Het
Tph1 C T 7: 46,306,627 (GRCm39) probably null Het
Ttn A G 2: 76,776,834 (GRCm39) I1522T unknown Het
Ulk4 T A 9: 121,084,178 (GRCm39) Q129L probably benign Het
Usp17la T A 7: 104,510,792 (GRCm39) S466T probably benign Het
Vmn2r31 A T 7: 7,387,744 (GRCm39) V609E probably damaging Het
Vmn2r52 C T 7: 9,904,744 (GRCm39) C365Y probably benign Het
Zbtb4 A T 11: 69,666,937 (GRCm39) T81S possibly damaging Het
Zfp605 A T 5: 110,259,885 (GRCm39) probably benign Het
Other mutations in Dip2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Dip2c APN 13 9,543,144 (GRCm39) missense probably damaging 0.97
IGL00426:Dip2c APN 13 9,656,551 (GRCm39) missense probably damaging 1.00
IGL00503:Dip2c APN 13 9,617,934 (GRCm39) missense probably damaging 1.00
IGL00586:Dip2c APN 13 9,660,791 (GRCm39) missense probably damaging 1.00
IGL01306:Dip2c APN 13 9,625,179 (GRCm39) missense possibly damaging 0.72
IGL01580:Dip2c APN 13 9,687,124 (GRCm39) splice site probably null
IGL01985:Dip2c APN 13 9,603,303 (GRCm39) splice site probably benign
IGL02060:Dip2c APN 13 9,672,666 (GRCm39) missense probably damaging 0.98
IGL02122:Dip2c APN 13 9,556,695 (GRCm39) missense possibly damaging 0.48
IGL02170:Dip2c APN 13 9,656,371 (GRCm39) missense probably benign 0.03
IGL02211:Dip2c APN 13 9,660,883 (GRCm39) missense probably damaging 1.00
IGL02755:Dip2c APN 13 9,600,356 (GRCm39) critical splice donor site probably null
IGL02836:Dip2c APN 13 9,660,826 (GRCm39) missense probably damaging 0.98
IGL02935:Dip2c APN 13 9,712,182 (GRCm39) missense probably damaging 1.00
IGL03032:Dip2c APN 13 9,601,814 (GRCm39) missense probably damaging 1.00
ANU23:Dip2c UTSW 13 9,625,179 (GRCm39) missense possibly damaging 0.72
P0038:Dip2c UTSW 13 9,697,018 (GRCm39) missense probably damaging 1.00
R0009:Dip2c UTSW 13 9,671,939 (GRCm39) missense probably damaging 1.00
R0268:Dip2c UTSW 13 9,687,186 (GRCm39) missense probably damaging 1.00
R0271:Dip2c UTSW 13 9,665,811 (GRCm39) missense probably damaging 1.00
R0306:Dip2c UTSW 13 9,654,635 (GRCm39) missense probably benign 0.09
R0415:Dip2c UTSW 13 9,618,325 (GRCm39) splice site probably benign
R0519:Dip2c UTSW 13 9,613,244 (GRCm39) missense probably damaging 1.00
R0557:Dip2c UTSW 13 9,603,495 (GRCm39) missense possibly damaging 0.81
R0964:Dip2c UTSW 13 9,618,699 (GRCm39) missense probably benign 0.43
R0973:Dip2c UTSW 13 9,626,944 (GRCm39) missense probably damaging 0.99
R0973:Dip2c UTSW 13 9,626,944 (GRCm39) missense probably damaging 0.99
R0974:Dip2c UTSW 13 9,626,944 (GRCm39) missense probably damaging 0.99
R1101:Dip2c UTSW 13 9,684,780 (GRCm39) missense probably damaging 1.00
R1171:Dip2c UTSW 13 9,543,162 (GRCm39) missense possibly damaging 0.89
R1403:Dip2c UTSW 13 9,603,300 (GRCm39) splice site probably null
R1403:Dip2c UTSW 13 9,603,300 (GRCm39) splice site probably null
R1432:Dip2c UTSW 13 9,603,340 (GRCm39) missense probably damaging 0.99
R1481:Dip2c UTSW 13 9,601,902 (GRCm39) critical splice donor site probably null
R1588:Dip2c UTSW 13 9,715,900 (GRCm39) missense probably damaging 1.00
R1721:Dip2c UTSW 13 9,709,404 (GRCm39) missense probably damaging 1.00
R1726:Dip2c UTSW 13 9,625,464 (GRCm39) missense probably damaging 1.00
R1867:Dip2c UTSW 13 9,671,985 (GRCm39) missense possibly damaging 0.55
R1909:Dip2c UTSW 13 9,583,386 (GRCm39) missense probably benign 0.00
R2013:Dip2c UTSW 13 9,617,882 (GRCm39) nonsense probably null
R2022:Dip2c UTSW 13 9,601,836 (GRCm39) missense probably damaging 1.00
R2517:Dip2c UTSW 13 9,659,041 (GRCm39) missense probably damaging 1.00
R3746:Dip2c UTSW 13 9,651,509 (GRCm39) missense probably damaging 1.00
R3794:Dip2c UTSW 13 9,654,597 (GRCm39) missense probably damaging 0.99
R3884:Dip2c UTSW 13 9,601,894 (GRCm39) missense probably damaging 1.00
R4019:Dip2c UTSW 13 9,664,401 (GRCm39) missense probably damaging 0.99
R4110:Dip2c UTSW 13 9,687,137 (GRCm39) missense probably damaging 1.00
R4111:Dip2c UTSW 13 9,687,137 (GRCm39) missense probably damaging 1.00
R4113:Dip2c UTSW 13 9,687,137 (GRCm39) missense probably damaging 1.00
R4256:Dip2c UTSW 13 9,659,092 (GRCm39) missense probably damaging 1.00
R4300:Dip2c UTSW 13 9,660,747 (GRCm39) missense probably damaging 1.00
R4494:Dip2c UTSW 13 9,621,098 (GRCm39) missense possibly damaging 0.64
R4739:Dip2c UTSW 13 9,583,375 (GRCm39) missense probably damaging 0.98
R4812:Dip2c UTSW 13 9,687,166 (GRCm39) nonsense probably null
R4814:Dip2c UTSW 13 9,586,896 (GRCm39) missense probably benign 0.07
R4816:Dip2c UTSW 13 9,625,186 (GRCm39) missense probably benign 0.37
R4828:Dip2c UTSW 13 9,610,715 (GRCm39) missense probably damaging 1.00
R4915:Dip2c UTSW 13 9,671,905 (GRCm39) splice site probably null
R4917:Dip2c UTSW 13 9,671,905 (GRCm39) splice site probably null
R4932:Dip2c UTSW 13 9,674,008 (GRCm39) missense probably damaging 0.99
R4993:Dip2c UTSW 13 9,625,259 (GRCm39) nonsense probably null
R5043:Dip2c UTSW 13 9,601,863 (GRCm39) missense possibly damaging 0.80
R5349:Dip2c UTSW 13 9,672,689 (GRCm39) missense probably damaging 1.00
R5744:Dip2c UTSW 13 9,618,441 (GRCm39) missense probably damaging 1.00
R5840:Dip2c UTSW 13 9,556,712 (GRCm39) missense possibly damaging 0.68
R6110:Dip2c UTSW 13 9,673,802 (GRCm39) missense probably damaging 1.00
R6160:Dip2c UTSW 13 9,583,290 (GRCm39) missense probably benign 0.01
R6161:Dip2c UTSW 13 9,697,043 (GRCm39) missense probably damaging 1.00
R6477:Dip2c UTSW 13 9,673,796 (GRCm39) missense probably damaging 1.00
R6522:Dip2c UTSW 13 9,625,264 (GRCm39) critical splice donor site probably null
R6603:Dip2c UTSW 13 9,704,624 (GRCm39) splice site probably null
R6658:Dip2c UTSW 13 9,543,213 (GRCm39) critical splice donor site probably null
R6672:Dip2c UTSW 13 9,617,866 (GRCm39) critical splice acceptor site probably null
R6697:Dip2c UTSW 13 9,671,949 (GRCm39) missense probably damaging 1.00
R6991:Dip2c UTSW 13 9,684,868 (GRCm39) missense probably damaging 1.00
R6991:Dip2c UTSW 13 9,601,896 (GRCm39) nonsense probably null
R7018:Dip2c UTSW 13 9,709,314 (GRCm39) missense probably damaging 1.00
R7053:Dip2c UTSW 13 9,660,740 (GRCm39) missense probably damaging 1.00
R7102:Dip2c UTSW 13 9,654,572 (GRCm39) missense probably benign 0.01
R7171:Dip2c UTSW 13 9,556,684 (GRCm39) missense probably benign 0.34
R7371:Dip2c UTSW 13 9,642,785 (GRCm39) missense probably benign 0.02
R7489:Dip2c UTSW 13 9,583,348 (GRCm39) missense probably damaging 0.99
R7575:Dip2c UTSW 13 9,678,048 (GRCm39) missense probably damaging 0.97
R7642:Dip2c UTSW 13 9,672,741 (GRCm39) critical splice donor site probably null
R7687:Dip2c UTSW 13 9,654,617 (GRCm39) missense probably benign 0.00
R7699:Dip2c UTSW 13 9,709,347 (GRCm39) missense probably benign 0.00
R7700:Dip2c UTSW 13 9,709,347 (GRCm39) missense probably benign 0.00
R7715:Dip2c UTSW 13 9,664,427 (GRCm39) missense probably damaging 1.00
R7842:Dip2c UTSW 13 9,656,569 (GRCm39) critical splice donor site probably null
R7845:Dip2c UTSW 13 9,659,080 (GRCm39) missense probably damaging 1.00
R8354:Dip2c UTSW 13 9,671,918 (GRCm39) missense probably benign 0.05
R8685:Dip2c UTSW 13 9,687,161 (GRCm39) missense probably benign 0.01
R8779:Dip2c UTSW 13 9,660,845 (GRCm39) missense probably damaging 0.98
R8786:Dip2c UTSW 13 9,665,830 (GRCm39) missense probably damaging 0.99
R8815:Dip2c UTSW 13 9,673,834 (GRCm39) nonsense probably null
R8833:Dip2c UTSW 13 9,625,519 (GRCm39) critical splice donor site probably null
R8868:Dip2c UTSW 13 9,625,503 (GRCm39) missense possibly damaging 0.73
R8873:Dip2c UTSW 13 9,625,182 (GRCm39) missense probably benign 0.03
R8887:Dip2c UTSW 13 9,673,989 (GRCm39) splice site probably benign
R8923:Dip2c UTSW 13 9,673,901 (GRCm39) missense probably damaging 1.00
R9112:Dip2c UTSW 13 9,660,766 (GRCm39) missense probably damaging 1.00
R9424:Dip2c UTSW 13 9,709,431 (GRCm39) missense probably damaging 1.00
R9474:Dip2c UTSW 13 9,544,963 (GRCm39) missense unknown
R9527:Dip2c UTSW 13 9,544,875 (GRCm39) missense unknown
R9593:Dip2c UTSW 13 9,704,683 (GRCm39) missense possibly damaging 0.89
R9615:Dip2c UTSW 13 9,625,191 (GRCm39) missense probably benign 0.03
R9801:Dip2c UTSW 13 9,626,936 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATTTTGGCCATCACAAGCTC -3'
(R):5'- GACTCAGTTAAGACTCAGGACAG -3'

Sequencing Primer
(F):5'- ATTTTGGCCATCACAAGCTCATCAG -3'
(R):5'- GTTAAGACTCAGGACAGTCACTCTG -3'
Posted On 2019-09-13