Incidental Mutation 'R5369:Dip2a'
ID 429555
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 042946-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5369 (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 76128194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 22 (I22T)
Ref Sequence ENSEMBL: ENSMUSP00000125744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036033] [ENSMUST00000105417] [ENSMUST00000160048] [ENSMUST00000160442]
AlphaFold Q8BWT5
Predicted Effect probably damaging
Transcript: ENSMUST00000036033
AA Change: I654T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043710
Gene: ENSMUSG00000020231
AA Change: I654T

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: I654T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101057
Gene: ENSMUSG00000020231
AA Change: I654T

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 possibly damaging
Transcript: ENSMUST00000160048
AA Change: I615T

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125184
Gene: ENSMUSG00000020231
AA Change: I615T

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 damaging
Transcript: ENSMUST00000160442
AA Change: I22T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125744
Gene: ENSMUSG00000020231
AA Change: I22T

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 0.8049 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (77/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,545,796 (GRCm39) T444A probably damaging Het
A330070K13Rik G A 5: 130,407,932 (GRCm39) probably benign Het
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Acbd5 T A 2: 23,002,522 (GRCm39) L508Q probably damaging Het
Asb15 T C 6: 24,562,563 (GRCm39) V175A probably benign Het
B3galnt2 T C 13: 14,169,010 (GRCm39) probably null Het
BC024139 A C 15: 76,004,422 (GRCm39) S711R probably benign Het
Bod1l A G 5: 41,984,526 (GRCm39) I508T probably damaging Het
Btnl6 T A 17: 34,726,959 (GRCm39) R524* probably null Het
C3 C A 17: 57,528,159 (GRCm39) D687Y probably benign Het
Ccbe1 G A 18: 66,194,485 (GRCm39) A367V probably benign Het
Ccr1 A T 9: 123,764,326 (GRCm39) M68K probably damaging Het
Cd27 T A 6: 125,211,327 (GRCm39) probably benign Het
Celf2 C A 2: 7,085,892 (GRCm39) probably benign Het
Cfap54 T C 10: 92,897,119 (GRCm39) probably benign Het
Cfap97 A G 8: 46,622,687 (GRCm39) K26E probably damaging Het
Clcn4 T A 7: 7,299,032 (GRCm39) I48F probably benign Het
Cnot7 A T 8: 40,947,061 (GRCm39) N238K probably benign Het
Colec12 A G 18: 9,866,750 (GRCm39) I654V unknown Het
Eif4g3 C T 4: 137,910,645 (GRCm39) T1375M possibly damaging Het
Eml5 C T 12: 98,825,042 (GRCm39) G725D probably damaging Het
F12 T C 13: 55,566,304 (GRCm39) E496G probably benign Het
Fam227a A T 15: 79,499,637 (GRCm39) S573T probably benign Het
Fnip1 T C 11: 54,393,415 (GRCm39) V593A probably benign Het
Focad T A 4: 88,039,610 (GRCm39) probably benign Het
Frem1 A G 4: 82,919,976 (GRCm39) I460T possibly damaging Het
Galnt10 T G 11: 57,656,573 (GRCm39) probably null Het
Gm5592 A T 7: 40,867,635 (GRCm39) probably benign Het
Gm6185 A T 1: 161,037,330 (GRCm39) noncoding transcript Het
Gm7935 A T 15: 73,952,963 (GRCm39) noncoding transcript Het
Grb14 C T 2: 64,747,653 (GRCm39) V369I probably benign Het
Gstm5 G A 3: 107,805,782 (GRCm39) A198T probably damaging Het
Herc2 T A 7: 55,832,448 (GRCm39) V3048D probably damaging Het
Htra4 T G 8: 25,523,585 (GRCm39) I327L possibly damaging Het
Ifi209 T C 1: 173,464,873 (GRCm39) M1T probably null Het
Ints6 T C 14: 62,981,384 (GRCm39) T135A probably damaging Het
Itpr1 T A 6: 108,496,385 (GRCm39) I2604N probably damaging Het
Krt6a T A 15: 101,600,993 (GRCm39) M268L probably benign Het
Lrp1b G T 2: 40,894,625 (GRCm39) S2201* probably null Het
Lrp2 T C 2: 69,289,904 (GRCm39) N3645S probably benign Het
Lrrc15 A T 16: 30,091,722 (GRCm39) I539N possibly damaging Het
Map3k6 T C 4: 132,974,992 (GRCm39) I675T probably damaging Het
Map3k9 T A 12: 81,768,826 (GRCm39) E1074V probably damaging Het
Med13l T A 5: 118,862,075 (GRCm39) S339R probably benign Het
Mrps18a T C 17: 46,436,552 (GRCm39) probably benign Het
Mtcl2 T C 2: 156,882,654 (GRCm39) E466G probably damaging Het
Nat8f2 G T 6: 85,844,854 (GRCm39) Y169* probably null Het
Nlrp1b A G 11: 71,072,625 (GRCm39) I406T probably benign Het
Npc1l1 A G 11: 6,167,705 (GRCm39) probably null Het
Or10z1 A G 1: 174,078,007 (GRCm39) V162A probably damaging Het
Or5ac20 A T 16: 59,104,743 (GRCm39) M39K probably damaging Het
Ostf1 C T 19: 18,558,689 (GRCm39) G198E probably benign Het
Pcsk5 A G 19: 17,558,619 (GRCm39) V596A probably damaging Het
Pde4c T C 8: 71,202,754 (GRCm39) *647Q probably null Het
Pkm A T 9: 59,577,917 (GRCm39) I245F probably damaging Het
Prss3b T A 6: 41,009,940 (GRCm39) R131S probably benign Het
Ptprj T C 2: 90,299,985 (GRCm39) H179R probably benign Het
Rapgef2 A T 3: 78,976,739 (GRCm39) S1356T probably benign Het
Rbm45 T A 2: 76,200,594 (GRCm39) L41Q probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scel A T 14: 103,823,929 (GRCm39) I386F probably benign Het
Serpinb5 A T 1: 106,809,487 (GRCm39) N298Y possibly damaging Het
Sirt3 A T 7: 140,449,406 (GRCm39) L180Q probably damaging Het
Slc24a2 C T 4: 86,909,625 (GRCm39) V698I probably damaging Het
Slc43a3 A T 2: 84,788,067 (GRCm39) H483L probably damaging Het
Snrnp35 A G 5: 124,628,262 (GRCm39) D25G probably benign Het
Snrnp40 T C 4: 130,256,439 (GRCm39) S55P probably damaging Het
Snx9 T A 17: 5,970,855 (GRCm39) C399S probably damaging Het
Ttbk2 T C 2: 120,655,743 (GRCm39) probably benign Het
Vmn1r1 A G 1: 181,985,341 (GRCm39) V108A possibly damaging Het
Vmn1r201 T A 13: 22,659,672 (GRCm39) N295K probably benign Het
Zfp292 G A 4: 34,807,491 (GRCm39) P1851L possibly damaging Het
Zfp472 A T 17: 33,196,717 (GRCm39) D264V 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
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
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
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'- AACCATGGAACTGTAGGCTG -3'
(R):5'- TTATGTGCAGCCAGGACTC -3'

Sequencing Primer
(F):5'- GGCACTGATAGGAAGTCCTTC -3'
(R):5'- AGCCAGGACTCAGCCTG -3'
Posted On 2016-09-06