Incidental Mutation 'R1432:Dip2c'
ID 162336
Institutional Source Beutler Lab
Gene Symbol Dip2c
Ensembl Gene ENSMUSG00000048264
Gene Name disco interacting protein 2 homolog C
Synonyms 2900024P20Rik
MMRRC Submission 039487-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.589) question?
Stock # R1432 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 9326564-9718964 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 9603340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 297 (P297Q)
Ref Sequence ENSEMBL: ENSMUSP00000126827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166299] [ENSMUST00000169960] [ENSMUST00000174552]
AlphaFold E9PWR4
Predicted Effect probably damaging
Transcript: ENSMUST00000166299
AA Change: P297Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126827
Gene: ENSMUSG00000048264
AA Change: P297Q

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 benign
Transcript: ENSMUST00000169960
AA Change: P353Q

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000131238
Gene: ENSMUSG00000048264
AA Change: P353Q

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 possibly damaging
Transcript: ENSMUST00000174552
AA Change: P297Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133806
Gene: ENSMUSG00000048264
AA Change: P297Q

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 noncoding transcript
Transcript: ENSMUST00000221729
Meta Mutation Damage Score 0.1202 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 98% (90/92)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,217,361 (GRCm39) probably null Het
9130401M01Rik A T 15: 57,892,256 (GRCm39) L117Q probably damaging Het
Abcb1b A G 5: 8,887,771 (GRCm39) K886E possibly damaging Het
Acaa2 A T 18: 74,920,198 (GRCm39) I9F probably damaging Het
Acap2 A T 16: 30,929,901 (GRCm39) S386T probably damaging Het
Acsm2 A T 7: 119,172,798 (GRCm39) I138F possibly damaging Het
Agl T C 3: 116,540,342 (GRCm39) Y1424C probably damaging Het
Aoc1l1 T A 6: 48,952,588 (GRCm39) F171Y probably damaging Het
Apc2 T C 10: 80,148,183 (GRCm39) V1079A probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Armc8 C T 9: 99,405,185 (GRCm39) probably benign Het
Catsperb A G 12: 101,588,476 (GRCm39) Y953C probably damaging Het
Cdk13 G A 13: 17,893,001 (GRCm39) A720V probably damaging Het
Chka T C 19: 3,924,809 (GRCm39) probably benign Het
Clcc1 T C 3: 108,575,418 (GRCm39) I165T probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Dnah17 A T 11: 117,914,153 (GRCm39) W4429R probably damaging Het
Dram2 T C 3: 106,478,082 (GRCm39) V138A possibly damaging Het
Dus4l T C 12: 31,698,770 (GRCm39) N78S probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Ebf1 T C 11: 44,895,533 (GRCm39) probably benign Het
Epm2a T A 10: 11,266,587 (GRCm39) Y111N probably damaging Het
Gm773 T C X: 55,247,377 (GRCm39) T52A probably benign Het
Gpam C A 19: 55,067,693 (GRCm39) M483I probably damaging Het
Gpr12 T C 5: 146,520,235 (GRCm39) H229R probably damaging Het
Gpr149 T C 3: 62,438,439 (GRCm39) T573A probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hells T A 19: 38,945,628 (GRCm39) probably null Het
Herc1 T A 9: 66,372,751 (GRCm39) N3102K probably benign Het
Herc3 A T 6: 58,893,827 (GRCm39) T968S possibly damaging Het
Ift88 A G 14: 57,674,736 (GRCm39) Y69C probably benign Het
Incenp G A 19: 9,862,890 (GRCm39) T388M unknown Het
Jrkl A G 9: 13,245,337 (GRCm39) F108S probably benign Het
Khdc1a A G 1: 21,420,542 (GRCm39) E54G possibly damaging Het
Kif6 T A 17: 49,927,728 (GRCm39) F58L probably damaging Het
Klk14 T C 7: 43,344,342 (GRCm39) S218P probably damaging Het
Kmt2e T C 5: 23,655,319 (GRCm39) M19T probably benign Het
Llgl1 G T 11: 60,599,380 (GRCm39) G454C probably damaging Het
Lyrm4 A G 13: 36,276,898 (GRCm39) V33A probably benign Het
Mcam C T 9: 44,052,588 (GRCm39) R606C probably damaging Het
Mgam T A 6: 40,733,301 (GRCm39) M692K probably damaging Het
Mmp28 C T 11: 83,333,765 (GRCm39) R392H probably damaging Het
Mpdz G A 4: 81,210,788 (GRCm39) T1699M probably damaging Het
Mrps11 T C 7: 78,433,310 (GRCm39) probably benign Het
Mrtfb A G 16: 13,218,866 (GRCm39) N504S probably benign Het
Msmo1 A G 8: 65,180,650 (GRCm39) probably benign Het
Mst1 A G 9: 107,961,403 (GRCm39) E571G probably benign Het
Myh14 T C 7: 44,265,723 (GRCm39) E1585G probably damaging Het
Myrfl A G 10: 116,613,332 (GRCm39) C824R probably damaging Het
Ncapd3 C T 9: 26,981,168 (GRCm39) probably benign Het
Nlrp4a G GGTTCTTC 7: 26,163,622 (GRCm39) probably null Het
Nos1 C T 5: 118,087,684 (GRCm39) probably benign Het
Notch3 T C 17: 32,383,198 (GRCm39) S47G probably benign Het
Npsr1 A G 9: 24,221,371 (GRCm39) Y122C probably damaging Het
Or10ak12 T C 4: 118,666,435 (GRCm39) M209V probably benign Het
Or1j11 C T 2: 36,311,655 (GRCm39) L82F probably damaging Het
Or5a1 G T 19: 12,097,603 (GRCm39) R158S possibly damaging Het
Or6c1b C T 10: 129,272,807 (GRCm39) T42I probably damaging Het
Or6k2 T A 1: 173,986,483 (GRCm39) V48E possibly damaging Het
Or8b9 T A 9: 37,766,548 (GRCm39) L145M possibly damaging Het
Otog G T 7: 45,950,007 (GRCm39) V2490F probably damaging Het
Pibf1 T C 14: 99,350,425 (GRCm39) V191A probably benign Het
Pip A G 6: 41,826,852 (GRCm39) M66V probably benign Het
Plxna2 C T 1: 194,449,771 (GRCm39) R830C probably benign Het
Prkca A T 11: 107,830,346 (GRCm39) V248E probably benign Het
Prmt7 T A 8: 106,963,916 (GRCm39) L253* probably null Het
Prrc2a G T 17: 35,372,888 (GRCm39) probably benign Het
Rasgrf1 A G 9: 89,894,853 (GRCm39) D1091G probably benign Het
Rbm7 C A 9: 48,401,245 (GRCm39) G161V probably benign Het
Scn1a A T 2: 66,152,773 (GRCm39) I736N probably damaging Het
Skint6 A G 4: 112,726,721 (GRCm39) probably benign Het
Slc22a2 C T 17: 12,803,195 (GRCm39) H10Y possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stam2 A G 2: 52,604,821 (GRCm39) probably benign Het
Stk40 T C 4: 126,030,626 (GRCm39) L282P probably damaging Het
Tas2r110 A G 6: 132,845,331 (GRCm39) N121D probably damaging Het
Tbc1d32 A G 10: 55,893,758 (GRCm39) Y1272H probably damaging Het
Thoc2l T C 5: 104,665,970 (GRCm39) F164S probably damaging Het
Tmem131l T C 3: 83,836,021 (GRCm39) D696G probably damaging Het
Trdmt1 T C 2: 13,524,657 (GRCm39) Y266C probably damaging Het
Trim5 G T 7: 103,928,726 (GRCm39) H72N probably benign Het
Trim5 A C 7: 103,928,728 (GRCm39) L71R probably benign Het
Twf2 T A 9: 106,092,012 (GRCm39) probably benign Het
Ubap2l T C 3: 89,926,635 (GRCm39) T580A probably benign Het
Ugt1a10 C T 1: 88,143,982 (GRCm39) R201C probably damaging Het
Unc5a A G 13: 55,152,285 (GRCm39) probably benign Het
Vmn2r85 T C 10: 130,261,155 (GRCm39) N394S possibly damaging Het
Wrn A T 8: 33,809,169 (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
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
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'- AAACGAGGACTCTGTTCTTTGATGAGG -3'
(R):5'- AGGATGTACAGGGGCTTTCCATTTG -3'

Sequencing Primer
(F):5'- GCCTTGGAAACTGTAAGAACTC -3'
(R):5'- GTTTGTGACGACTCCCAACT -3'
Posted On 2014-03-14