Incidental Mutation 'R4739:Dip2c'
ID 359542
Institutional Source Beutler Lab
Gene Symbol Dip2c
Ensembl Gene ENSMUSG00000048264
Gene Name disco interacting protein 2 homolog C
Synonyms 2900024P20Rik
MMRRC Submission 042025-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.711) question?
Stock # R4739 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 9276528-9668928 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9533339 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 119 (L119Q)
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: L119Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126827
Gene: ENSMUSG00000048264
AA Change: L119Q

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: L175Q
SMART Domains Protein: ENSMUSP00000131238
Gene: ENSMUSG00000048264
AA Change: L175Q

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: L119Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133806
Gene: ENSMUSG00000048264
AA Change: L119Q

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
Meta Mutation Damage Score 0.1515 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 96% (102/106)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik C T 1: 158,969,334 noncoding transcript Het
2300002M23Rik A G 17: 35,567,506 probably benign Het
Aadat T C 8: 60,540,106 V360A probably benign Het
Abcc5 T A 16: 20,399,626 D283V probably damaging Het
Abraxas1 T A 5: 100,812,020 K155N probably damaging Het
Acot3 T C 12: 84,058,590 I277T probably benign Het
Ankrd45 G A 1: 161,155,390 C157Y probably damaging Het
Apol10a C T 15: 77,488,641 T159I possibly damaging Het
Arhgef11 G A 3: 87,697,999 V214M possibly damaging Het
Ash1l A C 3: 88,982,845 N677T probably benign Het
Atg13 A G 2: 91,684,695 S254P probably damaging Het
Atg16l2 A G 7: 101,297,178 L129P probably damaging Het
Avl9 T A 6: 56,726,309 V120D probably damaging Het
Cc2d1b T C 4: 108,628,042 V527A probably benign Het
Ccnl1 A G 3: 65,946,671 probably benign Het
Cenpl T A 1: 161,083,267 D261E probably damaging Het
Cep192 T G 18: 67,851,732 I1604M probably benign Het
Cep95 A G 11: 106,815,734 I573V probably benign Het
Cfap100 A G 6: 90,412,843 probably null Het
Cmc1 T A 9: 118,075,177 M49L probably benign Het
Cyfip2 G T 11: 46,279,993 N176K probably damaging Het
Cyp2w1 T C 5: 139,356,675 F408L probably damaging Het
D630045J12Rik G A 6: 38,196,036 S399F possibly damaging Het
Dcbld2 T A 16: 58,460,976 L528Q probably damaging Het
Dip2b T C 15: 100,207,777 V1138A probably damaging Het
Dnah3 T C 7: 120,077,946 D444G possibly damaging Het
Dsg1c A T 18: 20,275,189 N432Y possibly damaging Het
Dst T A 1: 34,191,147 I2785N probably benign Het
Dynap A T 18: 70,241,225 Y77N possibly damaging Het
Eif4g3 T C 4: 138,183,199 L1330P possibly damaging Het
Eif4g3 T A 4: 138,198,097 S1584T probably benign Het
Enpp1 A T 10: 24,679,248 C67S probably null Het
Enpp5 C T 17: 44,081,136 T152I probably damaging Het
Erbb4 T C 1: 68,343,900 M313V probably damaging Het
Erc2 T G 14: 27,776,881 L238R probably damaging Het
Eya3 T A 4: 132,721,387 probably benign Het
Farp1 T C 14: 121,238,787 F339L probably damaging Het
Fsip2 A C 2: 82,975,353 D672A possibly damaging Het
Gap43 G T 16: 42,292,218 P60Q probably benign Het
Gatsl3 A G 11: 4,219,004 E57G possibly damaging Het
Gpr37l1 T A 1: 135,167,045 I154F probably damaging Het
Greb1 A G 12: 16,696,328 S1314P probably damaging Het
Hectd4 A T 5: 121,348,442 M3167L probably benign Het
Hps3 C T 3: 20,030,410 probably null Het
Hps5 A G 7: 46,786,589 C178R probably benign Het
Hspg2 T A 4: 137,570,073 probably benign Het
Impdh2-ps A G 8: 100,031,207 noncoding transcript Het
Josd2 T A 7: 44,471,254 N138K probably damaging Het
Mtmr6 T G 14: 60,292,097 M315R probably damaging Het
Mtrf1 G A 14: 79,413,080 V323M probably damaging Het
Myo16 G T 8: 10,373,527 G288W probably damaging Het
Myo18a T C 11: 77,823,323 Y748H probably damaging Het
Narfl A T 17: 25,781,309 H322L probably damaging Het
Nek1 A T 8: 61,098,511 N853I probably benign Het
Npnt T G 3: 132,904,691 T272P possibly damaging Het
Olfr11 T A 13: 21,639,170 M118L possibly damaging Het
Olfr1390 G A 11: 49,341,321 G263D probably benign Het
Olfr558 T A 7: 102,710,171 I304N probably damaging Het
Olfr668 G A 7: 104,924,810 T318I possibly damaging Het
Olfr694 C A 7: 106,689,144 E196* probably null Het
Olfr76 A G 19: 12,119,870 Y269H possibly damaging Het
Pappa2 T G 1: 158,957,002 D146A probably damaging Het
Pappa2 T C 1: 158,957,012 R143G probably benign Het
Pcsk9 C T 4: 106,447,156 G496R probably damaging Het
Pes1 A G 11: 3,964,058 K8E probably damaging Het
Phlpp2 G A 8: 109,940,420 G1194S probably damaging Het
Pkn1 A C 8: 83,671,749 V763G probably damaging Het
Pkp2 C A 16: 16,230,724 A331E probably damaging Het
Plb1 T A 5: 32,349,679 probably null Het
Plxna1 A T 6: 89,332,675 probably null Het
Polq C T 16: 37,041,747 T264M probably damaging Het
Prkag3 T C 1: 74,740,705 *490W probably null Het
Prl2c1 T C 13: 27,857,678 C228R probably damaging Het
Pus7l T C 15: 94,540,710 S85G probably benign Het
Rfc3 A C 5: 151,644,776 probably benign Het
Riox2 A G 16: 59,489,369 N362S probably benign Het
Rnf219 C T 14: 104,510,383 D43N probably damaging Het
Scaper A T 9: 55,743,648 D904E probably damaging Het
Scn11a T C 9: 119,754,561 M1663V probably benign Het
Slc13a3 A T 2: 165,430,289 I278N possibly damaging Het
Slc22a7 T C 17: 46,434,997 E278G probably damaging Het
Snrnp48 T A 13: 38,209,917 M66K probably damaging Het
Styk1 T G 6: 131,300,466 E404A probably damaging Het
Synj1 T A 16: 90,955,419 H1016L probably benign Het
Tbc1d8 G A 1: 39,402,878 T211I possibly damaging Het
Tjp2 T C 19: 24,120,111 probably null Het
Tmem87a A G 2: 120,360,037 probably null Het
Trappc9 T G 15: 72,937,060 Y718S probably damaging Het
Ttn A T 2: 76,811,243 L5176Q possibly damaging Het
Ubqlnl C T 7: 104,149,718 V191M probably benign Het
Ugt2a3 C T 5: 87,327,195 G397R probably damaging Het
Wdr33 T A 18: 31,886,086 M454K probably benign Het
Wdtc1 G T 4: 133,301,799 N325K possibly damaging Het
Whrn T C 4: 63,418,165 H720R probably damaging Het
Xirp2 A T 2: 67,519,265 D3268V probably damaging Het
Zc3h7a A T 16: 11,141,709 H793Q probably damaging Het
Zfp518b C T 5: 38,674,498 A55T possibly damaging Het
Zmynd8 G A 2: 165,805,329 T901M probably damaging Het
Other mutations in Dip2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Dip2c APN 13 9,493,108 (GRCm38) missense probably damaging 0.97
IGL00426:Dip2c APN 13 9,606,515 (GRCm38) missense probably damaging 1.00
IGL00503:Dip2c APN 13 9,567,898 (GRCm38) missense probably damaging 1.00
IGL00586:Dip2c APN 13 9,610,755 (GRCm38) missense probably damaging 1.00
IGL01306:Dip2c APN 13 9,575,143 (GRCm38) missense possibly damaging 0.72
IGL01580:Dip2c APN 13 9,637,088 (GRCm38) splice site probably null
IGL01985:Dip2c APN 13 9,553,267 (GRCm38) splice site probably benign
IGL02060:Dip2c APN 13 9,622,630 (GRCm38) missense probably damaging 0.98
IGL02122:Dip2c APN 13 9,506,659 (GRCm38) missense possibly damaging 0.48
IGL02170:Dip2c APN 13 9,606,335 (GRCm38) missense probably benign 0.03
IGL02211:Dip2c APN 13 9,610,847 (GRCm38) missense probably damaging 1.00
IGL02755:Dip2c APN 13 9,550,320 (GRCm38) critical splice donor site probably null
IGL02836:Dip2c APN 13 9,610,790 (GRCm38) missense probably damaging 0.98
IGL02935:Dip2c APN 13 9,662,146 (GRCm38) missense probably damaging 1.00
IGL03032:Dip2c APN 13 9,551,778 (GRCm38) missense probably damaging 1.00
ANU23:Dip2c UTSW 13 9,575,143 (GRCm38) missense possibly damaging 0.72
P0038:Dip2c UTSW 13 9,646,982 (GRCm38) missense probably damaging 1.00
R0009:Dip2c UTSW 13 9,621,903 (GRCm38) missense probably damaging 1.00
R0268:Dip2c UTSW 13 9,637,150 (GRCm38) missense probably damaging 1.00
R0271:Dip2c UTSW 13 9,615,775 (GRCm38) missense probably damaging 1.00
R0306:Dip2c UTSW 13 9,604,599 (GRCm38) missense probably benign 0.09
R0415:Dip2c UTSW 13 9,568,289 (GRCm38) splice site probably benign
R0519:Dip2c UTSW 13 9,563,208 (GRCm38) missense probably damaging 1.00
R0557:Dip2c UTSW 13 9,553,459 (GRCm38) missense possibly damaging 0.81
R0964:Dip2c UTSW 13 9,568,663 (GRCm38) missense probably benign 0.43
R0973:Dip2c UTSW 13 9,576,908 (GRCm38) missense probably damaging 0.99
R0973:Dip2c UTSW 13 9,576,908 (GRCm38) missense probably damaging 0.99
R0974:Dip2c UTSW 13 9,576,908 (GRCm38) missense probably damaging 0.99
R1101:Dip2c UTSW 13 9,634,744 (GRCm38) missense probably damaging 1.00
R1171:Dip2c UTSW 13 9,493,126 (GRCm38) missense possibly damaging 0.89
R1403:Dip2c UTSW 13 9,553,264 (GRCm38) splice site probably null
R1403:Dip2c UTSW 13 9,553,264 (GRCm38) splice site probably null
R1432:Dip2c UTSW 13 9,553,304 (GRCm38) missense probably damaging 0.99
R1481:Dip2c UTSW 13 9,551,866 (GRCm38) critical splice donor site probably null
R1588:Dip2c UTSW 13 9,665,864 (GRCm38) missense probably damaging 1.00
R1721:Dip2c UTSW 13 9,659,368 (GRCm38) missense probably damaging 1.00
R1726:Dip2c UTSW 13 9,575,428 (GRCm38) missense probably damaging 1.00
R1867:Dip2c UTSW 13 9,621,949 (GRCm38) missense possibly damaging 0.55
R1909:Dip2c UTSW 13 9,533,350 (GRCm38) missense probably benign 0.00
R2013:Dip2c UTSW 13 9,567,846 (GRCm38) nonsense probably null
R2022:Dip2c UTSW 13 9,551,800 (GRCm38) missense probably damaging 1.00
R2517:Dip2c UTSW 13 9,609,005 (GRCm38) missense probably damaging 1.00
R3746:Dip2c UTSW 13 9,601,473 (GRCm38) missense probably damaging 1.00
R3794:Dip2c UTSW 13 9,604,561 (GRCm38) missense probably damaging 0.99
R3884:Dip2c UTSW 13 9,551,858 (GRCm38) missense probably damaging 1.00
R4019:Dip2c UTSW 13 9,614,365 (GRCm38) missense probably damaging 0.99
R4110:Dip2c UTSW 13 9,637,101 (GRCm38) missense probably damaging 1.00
R4111:Dip2c UTSW 13 9,637,101 (GRCm38) missense probably damaging 1.00
R4113:Dip2c UTSW 13 9,637,101 (GRCm38) missense probably damaging 1.00
R4256:Dip2c UTSW 13 9,609,056 (GRCm38) missense probably damaging 1.00
R4300:Dip2c UTSW 13 9,610,711 (GRCm38) missense probably damaging 1.00
R4494:Dip2c UTSW 13 9,571,062 (GRCm38) missense possibly damaging 0.64
R4812:Dip2c UTSW 13 9,637,130 (GRCm38) nonsense probably null
R4814:Dip2c UTSW 13 9,536,860 (GRCm38) missense probably benign 0.07
R4816:Dip2c UTSW 13 9,575,150 (GRCm38) missense probably benign 0.37
R4828:Dip2c UTSW 13 9,560,679 (GRCm38) missense probably damaging 1.00
R4915:Dip2c UTSW 13 9,621,869 (GRCm38) splice site probably null
R4917:Dip2c UTSW 13 9,621,869 (GRCm38) splice site probably null
R4932:Dip2c UTSW 13 9,623,972 (GRCm38) missense probably damaging 0.99
R4993:Dip2c UTSW 13 9,575,223 (GRCm38) nonsense probably null
R5043:Dip2c UTSW 13 9,551,827 (GRCm38) missense possibly damaging 0.80
R5349:Dip2c UTSW 13 9,622,653 (GRCm38) missense probably damaging 1.00
R5744:Dip2c UTSW 13 9,568,405 (GRCm38) missense probably damaging 1.00
R5840:Dip2c UTSW 13 9,506,676 (GRCm38) missense possibly damaging 0.68
R6110:Dip2c UTSW 13 9,623,766 (GRCm38) missense probably damaging 1.00
R6160:Dip2c UTSW 13 9,533,254 (GRCm38) missense probably benign 0.01
R6161:Dip2c UTSW 13 9,647,007 (GRCm38) missense probably damaging 1.00
R6477:Dip2c UTSW 13 9,623,760 (GRCm38) missense probably damaging 1.00
R6522:Dip2c UTSW 13 9,575,228 (GRCm38) critical splice donor site probably null
R6603:Dip2c UTSW 13 9,654,588 (GRCm38) splice site probably null
R6658:Dip2c UTSW 13 9,493,177 (GRCm38) critical splice donor site probably null
R6672:Dip2c UTSW 13 9,567,830 (GRCm38) critical splice acceptor site probably null
R6697:Dip2c UTSW 13 9,621,913 (GRCm38) missense probably damaging 1.00
R6991:Dip2c UTSW 13 9,634,832 (GRCm38) missense probably damaging 1.00
R6991:Dip2c UTSW 13 9,551,860 (GRCm38) nonsense probably null
R7018:Dip2c UTSW 13 9,659,278 (GRCm38) missense probably damaging 1.00
R7053:Dip2c UTSW 13 9,610,704 (GRCm38) missense probably damaging 1.00
R7102:Dip2c UTSW 13 9,604,536 (GRCm38) missense probably benign 0.01
R7171:Dip2c UTSW 13 9,506,648 (GRCm38) missense probably benign 0.34
R7371:Dip2c UTSW 13 9,592,749 (GRCm38) missense probably benign 0.02
R7395:Dip2c UTSW 13 9,614,377 (GRCm38) missense probably damaging 1.00
R7489:Dip2c UTSW 13 9,533,312 (GRCm38) missense probably damaging 0.99
R7575:Dip2c UTSW 13 9,628,012 (GRCm38) missense probably damaging 0.97
R7642:Dip2c UTSW 13 9,622,705 (GRCm38) critical splice donor site probably null
R7687:Dip2c UTSW 13 9,604,581 (GRCm38) missense probably benign 0.00
R7699:Dip2c UTSW 13 9,659,311 (GRCm38) missense probably benign 0.00
R7700:Dip2c UTSW 13 9,659,311 (GRCm38) missense probably benign 0.00
R7715:Dip2c UTSW 13 9,614,391 (GRCm38) missense probably damaging 1.00
R7842:Dip2c UTSW 13 9,606,533 (GRCm38) critical splice donor site probably null
R7845:Dip2c UTSW 13 9,609,044 (GRCm38) missense probably damaging 1.00
R8354:Dip2c UTSW 13 9,621,882 (GRCm38) missense probably benign 0.05
R8685:Dip2c UTSW 13 9,637,125 (GRCm38) missense probably benign 0.01
R8779:Dip2c UTSW 13 9,610,809 (GRCm38) missense probably damaging 0.98
R8786:Dip2c UTSW 13 9,615,794 (GRCm38) missense probably damaging 0.99
R8815:Dip2c UTSW 13 9,623,798 (GRCm38) nonsense probably null
R8833:Dip2c UTSW 13 9,575,483 (GRCm38) critical splice donor site probably null
R8868:Dip2c UTSW 13 9,575,467 (GRCm38) missense possibly damaging 0.73
R8873:Dip2c UTSW 13 9,575,146 (GRCm38) missense probably benign 0.03
R8887:Dip2c UTSW 13 9,623,953 (GRCm38) splice site probably benign
R8923:Dip2c UTSW 13 9,623,865 (GRCm38) missense probably damaging 1.00
R9112:Dip2c UTSW 13 9,610,730 (GRCm38) missense probably damaging 1.00
R9424:Dip2c UTSW 13 9,659,395 (GRCm38) missense probably damaging 1.00
R9474:Dip2c UTSW 13 9,494,927 (GRCm38) missense unknown
R9527:Dip2c UTSW 13 9,494,839 (GRCm38) missense unknown
R9593:Dip2c UTSW 13 9,654,647 (GRCm38) missense possibly damaging 0.89
R9615:Dip2c UTSW 13 9,575,155 (GRCm38) missense probably benign 0.03
R9801:Dip2c UTSW 13 9,576,900 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTAGAACGACTGCTTTCC -3'
(R):5'- GCAAATGCTGTGATTGAAAGC -3'

Sequencing Primer
(F):5'- TCTGAGCTTAGGTACAAAGTCC -3'
(R):5'- TGCTGTGATTGAAAGCCATATTG -3'
Posted On 2015-11-11