Incidental Mutation 'R7171:Dip2c'
ID 558297
Institutional Source Beutler Lab
Gene Symbol Dip2c
Ensembl Gene ENSMUSG00000048264
Gene Name disco interacting protein 2 homolog C
Synonyms 2900024P20Rik
MMRRC Submission 045230-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.589) question?
Stock # R7171 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 9326564-9718964 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 9556684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 76 (R76L)
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: R76L

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126827
Gene: ENSMUSG00000048264
AA Change: R76L

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 unknown
Transcript: ENSMUST00000169960
AA Change: R132L
SMART Domains Protein: ENSMUSP00000131238
Gene: ENSMUSG00000048264
AA Change: R132L

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: R76L

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133806
Gene: ENSMUSG00000048264
AA Change: R76L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (81/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik T C 2: 154,454,897 (GRCm39) N154S unknown Het
Ank3 C T 10: 69,828,311 (GRCm39) H2327Y Het
Ano6 A G 15: 95,818,172 (GRCm39) Y305C probably damaging Het
Apc2 A G 10: 80,151,170 (GRCm39) T2075A possibly damaging Het
Arl6 A G 16: 59,443,455 (GRCm39) V93A possibly damaging Het
Bcas3 T C 11: 85,474,763 (GRCm39) S790P probably damaging Het
Bcl9l C A 9: 44,416,448 (GRCm39) H211N probably benign Het
Bptf G T 11: 107,022,233 (GRCm39) D172E unknown Het
Card9 T G 2: 26,249,496 (GRCm39) I22L possibly damaging Het
Catsperg1 C A 7: 28,884,637 (GRCm39) G933V probably damaging Het
Catsperg2 T A 7: 29,404,750 (GRCm39) H771L possibly damaging Het
Ccdc66 T C 14: 27,215,229 (GRCm39) N281S possibly damaging Het
Cfap54 A T 10: 92,612,072 (GRCm39) L3162H probably damaging Het
Clca4a A G 3: 144,663,934 (GRCm39) L503P probably benign Het
Cpn1 T C 19: 43,962,470 (GRCm39) N160D probably damaging Het
Ctsh T A 9: 89,949,154 (GRCm39) I206K probably benign Het
Cyb561d1 G A 3: 108,106,679 (GRCm39) T180M probably damaging Het
Dapk1 A T 13: 60,909,599 (GRCm39) D1404V probably damaging Het
Dnah7c T C 1: 46,719,898 (GRCm39) I2783T probably damaging Het
E130308A19Rik T C 4: 59,690,333 (GRCm39) Y56H probably damaging Het
Efemp2 G T 19: 5,530,285 (GRCm39) A310S probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Faap24 G A 7: 35,092,279 (GRCm39) Q213* probably null Het
Fam181b G A 7: 92,729,943 (GRCm39) G239S possibly damaging Het
Fancm T C 12: 65,148,394 (GRCm39) W670R probably damaging Het
Fcgbpl1 T A 7: 27,853,944 (GRCm39) L1636* probably null Het
Fmnl1 T C 11: 103,081,224 (GRCm39) Y357H probably damaging Het
Fryl A T 5: 73,279,653 (GRCm39) V215E probably damaging Het
Fscn2 C A 11: 120,253,335 (GRCm39) N267K probably damaging Het
Fsip2 T A 2: 82,816,571 (GRCm39) Y4101* probably null Het
Gcn1 G A 5: 115,728,352 (GRCm39) V738I probably benign Het
Gdf9 C T 11: 53,328,366 (GRCm39) R441C probably damaging Het
Gipc3 C T 10: 81,177,455 (GRCm39) G79E probably damaging Het
Gzmf T A 14: 56,443,391 (GRCm39) I196L probably benign Het
Hectd1 A T 12: 51,806,080 (GRCm39) V1852E probably damaging Het
Hip1r A T 5: 124,134,007 (GRCm39) Q256L probably benign Het
Hmgxb4 T C 8: 75,746,890 (GRCm39) S405P probably damaging Het
Il9r T A 11: 32,142,671 (GRCm39) H294L probably benign Het
Kif12 G A 4: 63,086,931 (GRCm39) T331I probably damaging Het
Krtap8-1 A T 16: 89,284,794 (GRCm39) M1K probably null Het
Lamc2 A T 1: 153,015,495 (GRCm39) C613S probably damaging Het
Lgr4 T A 2: 109,831,314 (GRCm39) N314K probably benign Het
Lpcat2 T C 8: 93,635,894 (GRCm39) I432T probably benign Het
Mfhas1 T C 8: 36,056,146 (GRCm39) V207A probably benign Het
Msh3 T G 13: 92,485,806 (GRCm39) T173P probably benign Het
Mup15 T A 4: 61,356,505 (GRCm39) M87L probably benign Het
N4bp2 T C 5: 65,965,365 (GRCm39) V1138A probably benign Het
Noc2l T C 4: 156,326,179 (GRCm39) V422A probably benign Het
Notch3 C T 17: 32,377,936 (GRCm39) G74D probably damaging Het
Ocstamp T A 2: 165,240,081 (GRCm39) K35I probably benign Het
Or12k7 T C 2: 36,958,400 (GRCm39) F28L possibly damaging Het
Or52w1 A G 7: 105,017,968 (GRCm39) H145R probably benign Het
Or5p58 A G 7: 107,694,342 (GRCm39) V145A probably benign Het
Or9a2 T G 6: 41,748,961 (GRCm39) T91P probably benign Het
Plekhh2 T A 17: 84,829,216 (GRCm39) V29D probably damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Rad54l2 C T 9: 106,590,677 (GRCm39) R483H probably damaging Het
Rapgef6 T A 11: 54,567,189 (GRCm39) D1128E possibly damaging Het
Rhbdl2 T A 4: 123,708,049 (GRCm39) I86N possibly damaging Het
Rims1 C A 1: 22,498,740 (GRCm39) R68L Het
Rnf157 A G 11: 116,253,199 (GRCm39) F70L possibly damaging Het
Rtp3 C T 9: 110,815,009 (GRCm39) C452Y unknown Het
S100a14 A T 3: 90,435,069 (GRCm39) K27* probably null Het
Scai C T 2: 38,996,948 (GRCm39) G282D possibly damaging Het
Sclt1 A T 3: 41,672,195 (GRCm39) I132N probably benign Het
Serpinf1 T A 11: 75,308,811 (GRCm39) Q2L possibly damaging Het
Skor2 T A 18: 76,948,681 (GRCm39) V801E probably benign Het
Slc16a10 C G 10: 39,913,255 (GRCm39) E484D probably benign Het
Slc1a5 T A 7: 16,531,463 (GRCm39) D489E probably damaging Het
Slx4 C T 16: 3,808,650 (GRCm39) R430H probably benign Het
Teddm1b A T 1: 153,750,679 (GRCm39) I163F probably damaging Het
Tmem171 A T 13: 98,828,744 (GRCm39) C135* probably null Het
Tmem82 C T 4: 141,342,284 (GRCm39) R306H possibly damaging Het
Tmem94 T A 11: 115,681,781 (GRCm39) probably null Het
Trpm2 A C 10: 77,759,848 (GRCm39) L1096R probably damaging Het
Trrap T A 5: 144,730,859 (GRCm39) L780Q probably damaging Het
Txlnb A G 10: 17,718,732 (GRCm39) D521G probably benign Het
Usp7 T C 16: 8,534,390 (GRCm39) D59G probably benign Het
Vcan G A 13: 89,873,710 (GRCm39) T48I probably damaging Het
Vmn1r45 A G 6: 89,910,316 (GRCm39) L218P probably damaging Het
Wdr25 A T 12: 108,990,922 (GRCm39) T370S probably damaging 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
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
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'- TGATCATCCCAGGCTTCTCAG -3'
(R):5'- GCACACATTGGTACATAAGTTAGAGC -3'

Sequencing Primer
(F):5'- CCCGCTGCTCTAATAGGTGATAG -3'
(R):5'- GTTAGAGCTTCACCTATGCAAAGTC -3'
Posted On 2019-06-26