Incidental Mutation 'R4849:Dip2a'
ID 373410
Institutional Source Beutler Lab
Gene Symbol Dip2a
Ensembl Gene ENSMUSG00000020231
Gene Name disco interacting protein 2 homolog A
Synonyms Dip2, Kiaa0184-hp, 4931420H10Rik
MMRRC Submission 042461-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4849 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 76098581-76181194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76130367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 580 (S580P)
Ref Sequence ENSEMBL: ENSMUSP00000125184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036033] [ENSMUST00000105417] [ENSMUST00000160048] [ENSMUST00000160442]
AlphaFold Q8BWT5
Predicted Effect probably damaging
Transcript: ENSMUST00000036033
AA Change: S619P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043710
Gene: ENSMUSG00000020231
AA Change: S619P

DomainStartEndE-ValueType
DMAP_binding 9 122 2.55e-35 SMART
low complexity region 173 208 N/A INTRINSIC
low complexity region 281 293 N/A INTRINSIC
Pfam:AMP-binding 330 806 4.3e-26 PFAM
Pfam:AMP-binding 982 1456 1.4e-52 PFAM
low complexity region 1487 1498 N/A INTRINSIC
low complexity region 1511 1532 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105417
AA Change: S619P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101057
Gene: ENSMUSG00000020231
AA Change: S619P

DomainStartEndE-ValueType
DMAP_binding 9 122 2.55e-35 SMART
low complexity region 173 208 N/A INTRINSIC
low complexity region 281 293 N/A INTRINSIC
Pfam:AMP-binding 330 806 6.6e-28 PFAM
Pfam:AMP-binding 992 1466 7.3e-65 PFAM
low complexity region 1497 1508 N/A INTRINSIC
low complexity region 1521 1542 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000160048
AA Change: S580P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125184
Gene: ENSMUSG00000020231
AA Change: S580P

DomainStartEndE-ValueType
DMAP_binding 9 83 7.94e-23 SMART
low complexity region 134 169 N/A INTRINSIC
low complexity region 242 254 N/A INTRINSIC
Pfam:AMP-binding 291 767 5.3e-26 PFAM
Pfam:AMP-binding 943 1417 1.7e-52 PFAM
low complexity region 1448 1459 N/A INTRINSIC
low complexity region 1472 1493 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160442
SMART Domains Protein: ENSMUSP00000125744
Gene: ENSMUSG00000020231

DomainStartEndE-ValueType
low complexity region 37 48 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162766
Meta Mutation Damage Score 0.7884 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (90/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G T 7: 28,314,877 (GRCm39) R239S possibly damaging Het
Angptl1 C A 1: 156,684,735 (GRCm39) N301K probably benign Het
Ankrd26 T A 6: 118,509,257 (GRCm39) T603S probably benign Het
App T C 16: 84,853,322 (GRCm39) D252G unknown Het
Atxn3 A G 12: 101,900,627 (GRCm39) S219P probably benign Het
Birc6 T C 17: 74,954,383 (GRCm39) S3397P probably damaging Het
Bivm A G 1: 44,182,033 (GRCm39) I414V possibly damaging Het
Cemip A G 7: 83,584,945 (GRCm39) F1324L possibly damaging Het
Ckap5 T A 2: 91,445,616 (GRCm39) N1724K probably damaging Het
Corin T A 5: 72,460,178 (GRCm39) M1035L probably damaging Het
Ctnna3 T C 10: 64,709,094 (GRCm39) I711T probably damaging Het
Cts6 A T 13: 61,349,415 (GRCm39) W98R probably null Het
Dock6 A G 9: 21,723,068 (GRCm39) probably null Het
Dusp15 T A 2: 152,791,002 (GRCm39) T32S probably damaging Het
Eogt T A 6: 97,093,016 (GRCm39) N387I probably damaging Het
Evx2 T C 2: 74,489,675 (GRCm39) D29G probably benign Het
Fat1 A G 8: 45,466,007 (GRCm39) N1422S probably benign Het
Fat2 T C 11: 55,201,463 (GRCm39) D537G probably damaging Het
Fat3 A C 9: 16,289,244 (GRCm39) I93S probably benign Het
Fem1b T C 9: 62,704,576 (GRCm39) E228G probably damaging Het
Fh1 A G 1: 175,448,072 (GRCm39) T25A probably benign Het
Fndc3b A G 3: 27,514,097 (GRCm39) W695R probably damaging Het
Gaa G A 11: 119,163,813 (GRCm39) V222I possibly damaging Het
Ggnbp1 T C 17: 27,251,947 (GRCm39) probably null Het
Gipc1 A G 8: 84,388,756 (GRCm39) Y154C probably benign Het
Gm5356 G T 8: 89,913,670 (GRCm39) noncoding transcript Het
Gnl1 T A 17: 36,298,603 (GRCm39) probably null Het
Gpcpd1 C T 2: 132,376,019 (GRCm39) G605R probably damaging Het
Guca1a T C 17: 47,705,662 (GRCm39) T177A possibly damaging Het
Ifit1bl1 T C 19: 34,572,076 (GRCm39) E127G probably damaging Het
Ift81 A T 5: 122,729,282 (GRCm39) I350N probably damaging Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Ing4 A G 6: 125,020,946 (GRCm39) R23G probably damaging Het
Ins1 A G 19: 52,253,384 (GRCm39) N108S probably damaging Het
Iqce A T 5: 140,679,214 (GRCm39) M72K possibly damaging Het
Itga3 C A 11: 94,967,097 (GRCm39) M22I probably benign Het
Kctd18 T C 1: 58,001,152 (GRCm39) E201G probably damaging Het
Klc1 A G 12: 111,748,129 (GRCm39) N344S probably damaging Het
Klrb1f A T 6: 129,033,347 (GRCm39) I192F probably damaging Het
Klrg2 A T 6: 38,607,214 (GRCm39) probably null Het
Kntc1 A C 5: 123,897,128 (GRCm39) I164L probably benign Het
Ltf T A 9: 110,855,058 (GRCm39) I357K probably benign Het
Mr1 T C 1: 155,006,436 (GRCm39) T304A probably benign Het
Msh6 C T 17: 88,290,947 (GRCm39) R178C possibly damaging Het
Mtch1 T C 17: 29,566,565 (GRCm39) D66G probably benign Het
Mtmr7 A G 8: 41,062,040 (GRCm39) V15A probably benign Het
Mtss2 A T 8: 111,452,875 (GRCm39) H40L possibly damaging Het
Mxra8 A G 4: 155,925,331 (GRCm39) probably benign Het
Myo3b T C 2: 70,075,253 (GRCm39) L535P probably damaging Het
Neurl2 T A 2: 164,674,739 (GRCm39) probably null Het
Nfia A C 4: 97,970,048 (GRCm39) T503P probably damaging Het
Noa1 T C 5: 77,454,179 (GRCm39) E487G possibly damaging Het
Nuak1 A T 10: 84,211,143 (GRCm39) V315D probably damaging Het
Nup205 A G 6: 35,207,505 (GRCm39) N1519S possibly damaging Het
Or10x1 T A 1: 174,196,966 (GRCm39) I161K probably damaging Het
Or1l4b T C 2: 37,036,266 (GRCm39) L14P probably damaging Het
Or1o1 T C 17: 37,716,589 (GRCm39) V50A probably benign Het
Or51f1e A G 7: 102,747,526 (GRCm39) I193V possibly damaging Het
Or6b13 G T 7: 139,782,340 (GRCm39) C114* probably null Het
Or9s18 G A 13: 65,300,493 (GRCm39) V152M possibly damaging Het
Peli1 T A 11: 21,098,528 (GRCm39) probably benign Het
Ppp6r1 A G 7: 4,646,206 (GRCm39) L175P probably damaging Het
Prkcd A G 14: 30,321,700 (GRCm39) L498P probably damaging Het
Prss30 T A 17: 24,191,769 (GRCm39) I251F probably benign Het
Psme3 A T 11: 101,207,907 (GRCm39) N21Y probably benign Het
Ptpra T C 2: 130,374,081 (GRCm39) Y271H probably damaging Het
Ralgapa1 T A 12: 55,745,588 (GRCm39) N1303Y probably damaging Het
Rims4 T C 2: 163,707,463 (GRCm39) I121V probably benign Het
Rnf123 A T 9: 107,933,290 (GRCm39) L1149Q probably damaging Het
Ryr3 T A 2: 112,738,807 (GRCm39) L593F probably damaging Het
Sec23b T C 2: 144,427,519 (GRCm39) F582S probably damaging Het
Sgpl1 T C 10: 60,940,297 (GRCm39) K335R probably benign Het
Sirpa C T 2: 129,451,163 (GRCm39) T141I probably damaging Het
Slit1 G T 19: 41,637,983 (GRCm39) A270E probably benign Het
Snap91 T C 9: 86,674,613 (GRCm39) T533A possibly damaging Het
Sphkap T G 1: 83,255,105 (GRCm39) E881D probably benign Het
Sptan1 C A 2: 29,901,054 (GRCm39) R1407S probably damaging Het
Tfdp1 A G 8: 13,423,895 (GRCm39) T353A probably benign Het
Ttyh1 A G 7: 4,125,533 (GRCm39) I62V possibly damaging Het
Vwde A T 6: 13,196,047 (GRCm39) V326D possibly damaging Het
Zfp398 T C 6: 47,836,446 (GRCm39) I82T possibly damaging Het
Zp1 A G 19: 10,896,198 (GRCm39) Y176H possibly damaging Het
Other mutations in Dip2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Dip2a APN 10 76,149,070 (GRCm39) missense probably benign
IGL00849:Dip2a APN 10 76,128,152 (GRCm39) missense probably damaging 0.99
IGL01685:Dip2a APN 10 76,163,583 (GRCm39) missense probably damaging 1.00
IGL01825:Dip2a APN 10 76,108,514 (GRCm39) nonsense probably null
IGL02343:Dip2a APN 10 76,155,312 (GRCm39) missense probably benign 0.00
IGL02437:Dip2a APN 10 76,134,101 (GRCm39) missense probably benign 0.09
IGL02981:Dip2a APN 10 76,112,255 (GRCm39) missense possibly damaging 0.84
IGL03122:Dip2a APN 10 76,110,880 (GRCm39) missense probably benign 0.00
IGL03261:Dip2a APN 10 76,140,982 (GRCm39) missense possibly damaging 0.80
R0369:Dip2a UTSW 10 76,134,621 (GRCm39) missense probably damaging 1.00
R0522:Dip2a UTSW 10 76,157,365 (GRCm39) missense probably benign 0.03
R0962:Dip2a UTSW 10 76,128,266 (GRCm39) unclassified probably benign
R1164:Dip2a UTSW 10 76,112,231 (GRCm39) missense possibly damaging 0.72
R1309:Dip2a UTSW 10 76,115,610 (GRCm39) missense probably damaging 1.00
R1426:Dip2a UTSW 10 76,115,654 (GRCm39) unclassified probably benign
R1636:Dip2a UTSW 10 76,157,412 (GRCm39) missense probably benign 0.01
R1823:Dip2a UTSW 10 76,114,336 (GRCm39) nonsense probably null
R1830:Dip2a UTSW 10 76,153,797 (GRCm39) missense probably damaging 1.00
R1876:Dip2a UTSW 10 76,153,925 (GRCm39) missense probably damaging 1.00
R2284:Dip2a UTSW 10 76,149,027 (GRCm39) missense probably benign 0.01
R2369:Dip2a UTSW 10 76,149,030 (GRCm39) missense probably benign
R4050:Dip2a UTSW 10 76,114,441 (GRCm39) missense probably damaging 1.00
R4089:Dip2a UTSW 10 76,114,323 (GRCm39) splice site probably null
R4231:Dip2a UTSW 10 76,155,304 (GRCm39) missense probably damaging 1.00
R4715:Dip2a UTSW 10 76,132,240 (GRCm39) missense probably benign 0.34
R4752:Dip2a UTSW 10 76,112,491 (GRCm39) missense probably damaging 1.00
R4846:Dip2a UTSW 10 76,157,327 (GRCm39) missense probably damaging 1.00
R4892:Dip2a UTSW 10 76,116,593 (GRCm39) missense probably benign 0.02
R4998:Dip2a UTSW 10 76,155,390 (GRCm39) nonsense probably null
R5068:Dip2a UTSW 10 76,153,877 (GRCm39) missense possibly damaging 0.82
R5141:Dip2a UTSW 10 76,106,287 (GRCm39) missense probably damaging 1.00
R5253:Dip2a UTSW 10 76,135,831 (GRCm39) missense probably damaging 1.00
R5304:Dip2a UTSW 10 76,130,357 (GRCm39) missense possibly damaging 0.67
R5324:Dip2a UTSW 10 76,132,227 (GRCm39) missense probably damaging 1.00
R5369:Dip2a UTSW 10 76,128,194 (GRCm39) missense probably damaging 1.00
R6272:Dip2a UTSW 10 76,122,241 (GRCm39) makesense probably null
R6884:Dip2a UTSW 10 76,108,366 (GRCm39) critical splice donor site probably null
R7143:Dip2a UTSW 10 76,133,625 (GRCm39) missense probably damaging 1.00
R7247:Dip2a UTSW 10 76,108,366 (GRCm39) critical splice donor site probably null
R7252:Dip2a UTSW 10 76,109,036 (GRCm39) missense not run
R7327:Dip2a UTSW 10 76,108,396 (GRCm39) missense probably benign 0.41
R7334:Dip2a UTSW 10 76,110,080 (GRCm39) missense possibly damaging 0.91
R7349:Dip2a UTSW 10 76,121,426 (GRCm39) missense probably damaging 1.00
R7360:Dip2a UTSW 10 76,114,394 (GRCm39) missense probably damaging 1.00
R7513:Dip2a UTSW 10 76,149,069 (GRCm39) missense probably benign
R7793:Dip2a UTSW 10 76,114,417 (GRCm39) missense probably benign 0.06
R7794:Dip2a UTSW 10 76,112,459 (GRCm39) missense probably damaging 1.00
R7819:Dip2a UTSW 10 76,126,862 (GRCm39) missense probably benign 0.06
R8079:Dip2a UTSW 10 76,123,155 (GRCm39) missense probably benign
R8280:Dip2a UTSW 10 76,100,610 (GRCm39) missense possibly damaging 0.75
R8281:Dip2a UTSW 10 76,112,438 (GRCm39) missense probably damaging 1.00
R8286:Dip2a UTSW 10 76,122,297 (GRCm39) missense probably benign
R8350:Dip2a UTSW 10 76,100,690 (GRCm39) missense probably damaging 1.00
R8450:Dip2a UTSW 10 76,100,690 (GRCm39) missense probably damaging 1.00
R8525:Dip2a UTSW 10 76,110,115 (GRCm39) critical splice acceptor site probably null
R8824:Dip2a UTSW 10 76,114,320 (GRCm39) critical splice donor site probably null
R8897:Dip2a UTSW 10 76,110,098 (GRCm39) missense probably benign 0.22
R9039:Dip2a UTSW 10 76,163,553 (GRCm39) missense probably benign 0.00
R9286:Dip2a UTSW 10 76,138,096 (GRCm39) missense probably benign 0.05
R9504:Dip2a UTSW 10 76,132,189 (GRCm39) missense probably damaging 1.00
R9523:Dip2a UTSW 10 76,112,438 (GRCm39) missense probably damaging 1.00
R9628:Dip2a UTSW 10 76,142,993 (GRCm39) missense probably damaging 0.99
R9732:Dip2a UTSW 10 76,110,077 (GRCm39) missense probably benign 0.11
Z1088:Dip2a UTSW 10 76,121,462 (GRCm39) missense probably benign 0.06
Z1176:Dip2a UTSW 10 76,116,654 (GRCm39) missense probably damaging 0.97
Z1176:Dip2a UTSW 10 76,102,157 (GRCm39) missense possibly damaging 0.94
Z1177:Dip2a UTSW 10 76,132,234 (GRCm39) missense probably damaging 1.00
Z1177:Dip2a UTSW 10 76,102,156 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- GGACACTGACGTTTCCTTATAGG -3'
(R):5'- AGACAAGAGTGTGGTCCGTG -3'

Sequencing Primer
(F):5'- GACACTTATCAAAGTAGTGATGAAGC -3'
(R):5'- TCACCCTCTGCACGAGTG -3'
Posted On 2016-03-01