Incidental Mutation 'R1426:Dip2a'
ID 162250
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 039482-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1426 (G1)
Quality Score 175
Status Validated
Chromosome 10
Chromosomal Location 76098581-76181194 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 76115654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036033] [ENSMUST00000105417] [ENSMUST00000160048] [ENSMUST00000160442]
AlphaFold Q8BWT5
Predicted Effect probably benign
Transcript: ENSMUST00000036033
SMART Domains Protein: ENSMUSP00000043710
Gene: ENSMUSG00000020231

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 benign
Transcript: ENSMUST00000105417
SMART Domains Protein: ENSMUSP00000101057
Gene: ENSMUSG00000020231

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 noncoding transcript
Transcript: ENSMUST00000159807
Predicted Effect probably benign
Transcript: ENSMUST00000160048
SMART Domains Protein: ENSMUSP00000125184
Gene: ENSMUSG00000020231

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.3%
  • 20x: 86.1%
Validation Efficiency 100% (40/40)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,635,361 (GRCm39) V214E probably damaging Het
Adh1 A G 3: 137,992,556 (GRCm39) D224G probably damaging Het
Arhgap28 C A 17: 68,164,459 (GRCm39) Q554H probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Brat1 G A 5: 140,703,768 (GRCm39) V674I probably benign Het
Brd2 ATCTTCTTC ATCTTC 17: 34,332,981 (GRCm39) probably benign Het
Ccdc162 T C 10: 41,429,178 (GRCm39) D438G possibly damaging Het
Cyp4x1 T A 4: 114,969,988 (GRCm39) probably benign Het
Eif2s1 A G 12: 78,927,942 (GRCm39) D206G probably benign Het
Elovl7 T A 13: 108,419,028 (GRCm39) I220N possibly damaging Het
Gsto1 A G 19: 47,846,381 (GRCm39) E76G probably damaging Het
Hspa14 A T 2: 3,509,858 (GRCm39) W12R probably damaging Het
L3mbtl2 T A 15: 81,560,518 (GRCm39) C260S possibly damaging Het
Lama3 G T 18: 12,614,155 (GRCm39) probably null Het
Lrrc34 T A 3: 30,697,728 (GRCm39) probably benign Het
Lrrc45 A T 11: 120,610,839 (GRCm39) Q525L probably benign Het
Lss T C 10: 76,372,137 (GRCm39) I164T probably damaging Het
Myh11 T A 16: 14,023,795 (GRCm39) K1527* probably null Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Ncoa1 T A 12: 4,320,737 (GRCm39) probably benign Het
Or5an1c G T 19: 12,218,546 (GRCm39) Q160K possibly damaging Het
Or6c38 A T 10: 128,929,559 (GRCm39) C95S probably damaging Het
Pafah1b3 T C 7: 24,996,560 (GRCm39) E41G possibly damaging Het
Pnma8a C T 7: 16,694,909 (GRCm39) P255S possibly damaging Het
Prkar2b A T 12: 32,012,987 (GRCm39) probably benign Het
Rbck1 A T 2: 152,169,161 (GRCm39) probably benign Het
Rcor2 A G 19: 7,248,395 (GRCm39) S137G possibly damaging Het
Slc25a48 T A 13: 56,596,804 (GRCm39) probably benign Het
Slc7a4 A G 16: 17,391,808 (GRCm39) probably null Het
Tert T C 13: 73,790,472 (GRCm39) probably benign Het
Traf7 A T 17: 24,730,655 (GRCm39) I344N probably damaging Het
Vmn1r194 T A 13: 22,429,236 (GRCm39) F284L probably damaging Het
Xpc A G 6: 91,470,220 (GRCm39) M699T probably damaging Het
Zbtb5 T C 4: 44,993,968 (GRCm39) H472R possibly damaging Het
Zfp786 A G 6: 47,802,013 (GRCm39) V88A probably benign Het
Zkscan7 T C 9: 122,724,228 (GRCm39) I399T probably benign Het
Zyg11b G A 4: 108,108,009 (GRCm39) R466C probably 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
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
R4849:Dip2a UTSW 10 76,130,367 (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'- CCACTGTACAAAGCACAGGTCTCTC -3'
(R):5'- TTGCAGAAGTTGGACCAGCCTC -3'

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