Incidental Mutation 'R7699:Dip2c'
ID 593880
Institutional Source Beutler Lab
Gene Symbol Dip2c
Ensembl Gene ENSMUSG00000048264
Gene Name disco interacting protein 2 homolog C
Synonyms 2900024P20Rik
MMRRC Submission 045760-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.589) question?
Stock # R7699 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 9326564-9718964 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 9709347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 1396 (S1396A)
Ref Sequence ENSEMBL: ENSMUSP00000133806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166299] [ENSMUST00000169960] [ENSMUST00000174552]
AlphaFold E9PWR4
Predicted Effect probably benign
Transcript: ENSMUST00000166299
AA Change: S1397A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000126827
Gene: ENSMUSG00000048264
AA Change: S1397A

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 possibly damaging
Transcript: ENSMUST00000169960
AA Change: S1367A

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000131238
Gene: ENSMUSG00000048264
AA Change: S1367A

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 benign
Transcript: ENSMUST00000174552
AA Change: S1396A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000133806
Gene: ENSMUSG00000048264
AA Change: S1396A

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
Meta Mutation Damage Score 0.0707 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik T C 19: 8,867,417 (GRCm39) L72P probably benign Het
4930407I10Rik C A 15: 81,948,306 (GRCm39) H734Q probably benign Het
Acadl A G 1: 66,877,522 (GRCm39) V343A possibly damaging Het
Acot4 A T 12: 84,090,011 (GRCm39) D236V probably damaging Het
App T A 16: 84,837,197 (GRCm39) probably null Het
Arfgef1 G A 1: 10,264,636 (GRCm39) T470I possibly damaging Het
Arhgef5 T C 6: 43,251,691 (GRCm39) I814T probably benign Het
Atr A T 9: 95,757,743 (GRCm39) R968* probably null Het
Bltp1 T A 3: 37,028,321 (GRCm39) N2329K possibly damaging Het
Bltp1 C T 3: 37,080,303 (GRCm39) S267L probably benign Het
Capn7 C T 14: 31,074,401 (GRCm39) T268I probably benign Het
Ccn1 C T 3: 145,354,447 (GRCm39) G155R probably damaging Het
Cubn A T 2: 13,352,989 (GRCm39) F1916L probably benign Het
Cubn A G 2: 13,494,728 (GRCm39) V107A possibly damaging Het
Cyp11b1 T A 15: 74,707,691 (GRCm39) T473S probably damaging Het
Dyrk1b T C 7: 27,883,737 (GRCm39) Y198H probably damaging Het
Echdc2 G T 4: 108,031,274 (GRCm39) R206L probably benign Het
Ep400 C T 5: 110,843,898 (GRCm39) R1594Q unknown Het
Fmnl2 G A 2: 52,926,520 (GRCm39) R69Q Het
Fry T A 5: 150,328,792 (GRCm39) H1308Q probably damaging Het
Fyb2 T A 4: 104,867,651 (GRCm39) D667E probably benign Het
Gimap7 T A 6: 48,700,791 (GRCm39) Y126N possibly damaging Het
Gm1979 A T 5: 26,205,178 (GRCm39) W266R probably damaging Het
Gm28042 T A 2: 119,870,197 (GRCm39) M712K possibly damaging Het
Gm3238 A G 10: 77,606,469 (GRCm39) *231R probably null Het
Gm5592 C A 7: 40,935,831 (GRCm39) A111E probably damaging Het
Gm7694 A G 1: 170,128,717 (GRCm39) *271Q probably null Het
Ift81 T C 5: 122,732,623 (GRCm39) M304V possibly damaging Het
Igfals T C 17: 25,099,548 (GRCm39) L213P probably damaging Het
Ints3 G A 3: 90,329,111 (GRCm39) P83S probably benign Het
Kcna10 T G 3: 107,102,856 (GRCm39) S496A probably damaging Het
Kmt2d G A 15: 98,741,600 (GRCm39) A4520V unknown Het
Lemd3 A T 10: 120,813,995 (GRCm39) Y413N probably damaging Het
Lgr6 T C 1: 134,923,770 (GRCm39) N453S probably damaging Het
Lmtk3 A C 7: 45,441,998 (GRCm39) D352A probably damaging Het
Lrrc4c T C 2: 97,461,024 (GRCm39) M550T possibly damaging Het
Maml2 A T 9: 13,532,385 (GRCm39) Q533L Het
Mdn1 T A 4: 32,741,344 (GRCm39) D3815E probably damaging Het
Megf8 C T 7: 25,029,353 (GRCm39) A299V possibly damaging Het
Meis3 G T 7: 15,911,481 (GRCm39) E59D probably benign Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Mtus1 T A 8: 41,537,006 (GRCm39) T237S possibly damaging Het
Ndfip2 T A 14: 105,525,193 (GRCm39) V158E possibly damaging Het
Nrbp2 T G 15: 75,962,746 (GRCm39) T53P probably damaging Het
Nrde2 G A 12: 100,097,094 (GRCm39) P902L probably benign Het
Or10ab5 T A 7: 108,244,879 (GRCm39) K301N probably damaging Het
Or11g24 T A 14: 50,662,792 (GRCm39) M272K probably benign Het
Or2y13 A G 11: 49,415,381 (GRCm39) Y277C probably damaging Het
Or51a10 T A 7: 103,699,800 (GRCm39) probably benign Het
Or6c202 T C 10: 128,995,924 (GRCm39) M310V probably benign Het
Pcdha1 A G 18: 37,064,115 (GRCm39) T260A probably damaging Het
Pdlim1 T G 19: 40,238,102 (GRCm39) K98N probably damaging Het
Phrf1 G A 7: 140,834,842 (GRCm39) G207R unknown Het
Pik3r6 A G 11: 68,419,389 (GRCm39) K124R probably damaging Het
Polr2b T A 5: 77,488,268 (GRCm39) F823I probably benign Het
Prss58 T C 6: 40,872,322 (GRCm39) I234V probably damaging Het
Ptpn14 A T 1: 189,597,608 (GRCm39) N766I probably benign Het
Qrfprl T A 6: 65,429,940 (GRCm39) I212N probably benign Het
Repin1 T A 6: 48,574,756 (GRCm39) S562T probably damaging Het
Rgr C T 14: 36,766,552 (GRCm39) D165N probably damaging Het
Rho T C 6: 115,912,200 (GRCm39) F221L probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rnase2a A G 14: 51,493,248 (GRCm39) I39T probably damaging Het
Rpl13a T G 7: 44,776,660 (GRCm39) I43L probably benign Het
Rpp30 T C 19: 36,066,558 (GRCm39) V97A probably benign Het
Scube3 T C 17: 28,386,023 (GRCm39) Y755H probably damaging Het
Sec24a A T 11: 51,603,084 (GRCm39) V788E probably damaging Het
Spns2 A T 11: 72,380,443 (GRCm39) L60* probably null Het
Strc T C 2: 121,202,229 (GRCm39) N1213S possibly damaging Het
Tec A T 5: 72,943,367 (GRCm39) I116N possibly damaging Het
Tll1 A T 8: 64,546,988 (GRCm39) D319E probably benign Het
Tmem121b T C 6: 120,470,388 (GRCm39) T110A unknown Het
Tmem232 T A 17: 65,572,213 (GRCm39) I593F probably damaging Het
Tpp2 A G 1: 44,009,626 (GRCm39) I487V probably benign Het
Ubr4 C A 4: 139,136,178 (GRCm39) C934* probably null Het
Vmn1r68 A G 7: 10,261,559 (GRCm39) Y180H probably benign Het
Vmn2r25 T C 6: 123,816,882 (GRCm39) D233G possibly damaging Het
Wdr6 A G 9: 108,453,560 (GRCm39) W108R possibly damaging Het
Zng1 A G 19: 24,920,045 (GRCm39) probably null 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
R7395:Dip2c UTSW 13 9,664,413 (GRCm39) missense probably damaging 1.00
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
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'- CATTGTGGAAAACAGGTTGCTG -3'
(R):5'- TTTCAGATGAGTAAGGGCAAGC -3'

Sequencing Primer
(F):5'- TGGAAAACAGGTTGCTGTGTAG -3'
(R):5'- TGGTGTGGCTCTCAACCTCAAAG -3'
Posted On 2019-11-12