Incidental Mutation 'R4231:Dip2a'
ID 320860
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 041050-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4231 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 76098581-76181194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76155304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 94 (P94S)
Ref Sequence ENSEMBL: ENSMUSP00000125184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036033] [ENSMUST00000105417] [ENSMUST00000160048]
AlphaFold Q8BWT5
Predicted Effect probably damaging
Transcript: ENSMUST00000036033
AA Change: P133S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043710
Gene: ENSMUSG00000020231
AA Change: P133S

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: P133S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101057
Gene: ENSMUSG00000020231
AA Change: P133S

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: P94S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125184
Gene: ENSMUSG00000020231
AA Change: P94S

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 noncoding transcript
Transcript: ENSMUST00000162766
Meta Mutation Damage Score 0.2398 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 99% (75/76)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 A T 12: 53,187,821 (GRCm39) D1745V probably damaging Het
Aldh5a1 C T 13: 25,095,636 (GRCm39) G494R probably damaging Het
Ankar T C 1: 72,697,701 (GRCm39) D1034G probably benign Het
Aox3 T A 1: 58,154,044 (GRCm39) N23K probably benign Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Bltp1 C T 3: 36,974,385 (GRCm39) T663I probably benign Het
Cacnb2 A G 2: 14,986,251 (GRCm39) K343E probably damaging Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Cd93 A T 2: 148,284,880 (GRCm39) H155Q probably benign Het
Cox6b2 T C 7: 4,755,834 (GRCm39) M1V probably null Het
Crat T C 2: 30,303,023 (GRCm39) E88G possibly damaging Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Filip1l T C 16: 57,327,131 (GRCm39) S54P probably benign Het
Gm12887 A T 4: 121,479,299 (GRCm39) M1K probably null Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Insyn2b A T 11: 34,353,143 (GRCm39) E395V probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Irak2 A G 6: 113,667,817 (GRCm39) E466G probably damaging Het
Irgm2 C T 11: 58,110,304 (GRCm39) probably benign Het
Jak3 T A 8: 72,138,189 (GRCm39) V880D probably damaging Het
Jmy G T 13: 93,635,433 (GRCm39) P128T probably benign Het
Kif20a A G 18: 34,765,091 (GRCm39) N775S probably benign Het
Kremen1 G A 11: 5,193,881 (GRCm39) Q50* probably null Het
Lrrc71 A G 3: 87,648,298 (GRCm39) I438T probably benign Het
Map3k1 T C 13: 111,905,028 (GRCm39) T374A probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Mta1 T C 12: 113,099,447 (GRCm39) M603T possibly damaging Het
Myo5a A G 9: 75,097,279 (GRCm39) N1319S possibly damaging Het
Nalcn T A 14: 123,837,325 (GRCm39) Q13L probably benign Het
Nbas A G 12: 13,443,344 (GRCm39) N1133S probably damaging Het
Nsun2 A G 13: 69,767,660 (GRCm39) N205D probably damaging Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or13a20 T C 7: 140,232,653 (GRCm39) Y254H probably damaging Het
Or4f17-ps1 C T 2: 111,358,546 (GRCm39) R314C probably damaging Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pam A G 1: 97,811,849 (GRCm39) probably null Het
Pcdh7 G A 5: 57,876,631 (GRCm39) G62D possibly damaging Het
Plxna2 C T 1: 194,326,762 (GRCm39) T232I probably damaging Het
Prkar1b A G 5: 139,094,376 (GRCm39) S71P probably benign Het
Ptprq A T 10: 107,522,144 (GRCm39) Y602* probably null Het
Rfx4 A T 10: 84,650,558 (GRCm39) M84L probably benign Het
Rfx7 A T 9: 72,526,672 (GRCm39) E1287D possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf216 A T 5: 143,078,845 (GRCm39) S35T probably damaging Het
Rps6kc1 A G 1: 190,541,097 (GRCm39) V402A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sart3 A G 5: 113,909,479 (GRCm39) M73T probably benign Het
Scn10a G T 9: 119,460,610 (GRCm39) T1088K probably damaging Het
Senp2 T C 16: 21,830,304 (GRCm39) probably null Het
Setd7 T C 3: 51,450,151 (GRCm39) N92D probably benign Het
Sipa1 A T 19: 5,704,117 (GRCm39) L735Q probably damaging Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slitrk6 A T 14: 110,988,820 (GRCm39) S296T probably benign Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Tex15 T C 8: 34,062,165 (GRCm39) S806P probably damaging Het
Tgm3 A T 2: 129,886,509 (GRCm39) K577* probably null Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Xpo6 T C 7: 125,773,354 (GRCm39) T24A possibly damaging Het
Zfhx2 A G 14: 55,310,991 (GRCm39) C568R possibly damaging Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null 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
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'- CCATTAAGCGCCTGGTTTTG -3'
(R):5'- TGCTCGGAGTAAGCCAACAG -3'

Sequencing Primer
(F):5'- CATTAAGCGCCTGGTTTTGGTTTATG -3'
(R):5'- GAAAACCAGATTGTAACCACTGTAG -3'
Posted On 2015-06-12