Incidental Mutation 'IGL02143:Disp2'
ID281655
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Disp2
Ensembl Gene ENSMUSG00000040035
Gene Namedispatched RND tramsporter family member 2
SynonymsB230210L08Rik, DispB
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.615) question?
Stock #IGL02143
Quality Score
Status
Chromosome2
Chromosomal Location118779719-118811293 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118789969 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 394 (F394S)
Ref Sequence ENSEMBL: ENSMUSP00000037136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037547] [ENSMUST00000063975] [ENSMUST00000110843] [ENSMUST00000110846]
Predicted Effect probably damaging
Transcript: ENSMUST00000037547
AA Change: F394S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: F394S

DomainStartEndE-ValueType
transmembrane domain 123 145 N/A INTRINSIC
low complexity region 195 203 N/A INTRINSIC
Pfam:MMPL 435 635 9.7e-8 PFAM
Pfam:Sterol-sensing 458 611 9.1e-9 PFAM
transmembrane domain 657 679 N/A INTRINSIC
low complexity region 682 695 N/A INTRINSIC
low complexity region 748 761 N/A INTRINSIC
transmembrane domain 914 936 N/A INTRINSIC
transmembrane domain 943 965 N/A INTRINSIC
transmembrane domain 975 997 N/A INTRINSIC
transmembrane domain 1018 1040 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000063975
SMART Domains Protein: ENSMUSP00000070031
Gene: ENSMUSG00000040035

DomainStartEndE-ValueType
transmembrane domain 123 145 N/A INTRINSIC
low complexity region 195 203 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110843
SMART Domains Protein: ENSMUSP00000106467
Gene: ENSMUSG00000040035

DomainStartEndE-ValueType
transmembrane domain 123 145 N/A INTRINSIC
low complexity region 195 203 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110846
SMART Domains Protein: ENSMUSP00000106470
Gene: ENSMUSG00000040035

DomainStartEndE-ValueType
transmembrane domain 123 145 N/A INTRINSIC
low complexity region 195 203 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142072
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019N19Rik C A 19: 58,789,252 R34L possibly damaging Het
Abhd5 T C 9: 122,365,213 M1T probably null Het
Ager G A 17: 34,599,118 G183E probably damaging Het
Alcam C A 16: 52,305,619 V112L probably damaging Het
Amot T A X: 145,487,028 Q204H probably damaging Het
Ankar C T 1: 72,658,649 probably null Het
Armc9 A G 1: 86,176,865 M279V possibly damaging Het
Bpifb1 C T 2: 154,209,929 T218I probably benign Het
Cacna1f A C X: 7,613,995 probably benign Het
Cacna2d2 T C 9: 107,518,275 probably null Het
Ccdc57 A T 11: 120,861,243 C837* probably null Het
Ctbp2 G A 7: 132,991,156 A808V probably damaging Het
Dcbld2 T C 16: 58,448,526 probably null Het
Dis3 T C 14: 99,091,318 probably benign Het
Dnah1 T C 14: 31,283,289 N2336S probably damaging Het
Drap1 C A 19: 5,423,843 L66F probably damaging Het
Eif5a2 C T 3: 28,793,739 R109C probably benign Het
Enpp1 A T 10: 24,677,974 D105E probably damaging Het
Evi5l G A 8: 4,191,293 M275I probably damaging Het
Flt1 T C 5: 147,578,436 T1059A probably benign Het
Fndc3c1 T C X: 106,472,734 probably benign Het
Git1 T C 11: 77,505,987 V645A possibly damaging Het
Gm7735 T A 16: 89,169,549 C20* probably null Het
Ighv1-42 G T 12: 114,937,286 P60T probably benign Het
Jakmip2 A T 18: 43,563,285 L533Q probably damaging Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Lpin2 T C 17: 71,243,926 S694P probably damaging Het
Mab21l2 C T 3: 86,547,255 R146Q possibly damaging Het
Mmp1b A T 9: 7,386,400 S174T probably benign Het
Neb T C 2: 52,291,199 Y1132C probably damaging Het
Nhsl1 A T 10: 18,511,635 H219L possibly damaging Het
Nwd2 T A 5: 63,791,653 probably null Het
Obp1a A C X: 78,090,843 M18R possibly damaging Het
Olfr525 A T 7: 140,323,592 K298* probably null Het
Olfr695 T C 7: 106,873,973 T91A probably benign Het
Pabpc5 T A X: 119,927,991 M1K probably null Het
Paxip1 A G 5: 27,775,598 probably benign Het
Perm1 A G 4: 156,218,043 E348G probably benign Het
Pfkfb1 T C X: 150,622,142 F170L probably damaging Het
Pou3f3 A G 1: 42,698,526 M461V probably benign Het
Ppfia2 G A 10: 106,857,499 D622N probably damaging Het
Prtg T G 9: 72,892,324 S801R probably damaging Het
Rars2 T A 4: 34,623,404 probably benign Het
Rasal1 A G 5: 120,652,852 D35G probably damaging Het
Repin1 T A 6: 48,597,121 L272Q probably damaging Het
Stk36 T C 1: 74,616,569 probably benign Het
Tbxa2r A G 10: 81,334,486 T269A probably benign Het
Tmem132c G A 5: 127,563,402 R879Q probably benign Het
Vmn1r78 C A 7: 12,152,480 A6E probably benign Het
Vps45 T C 3: 96,019,646 I530V probably benign Het
Vps45 A T 3: 96,033,821 N369K probably benign Het
Zkscan16 G A 4: 58,956,911 G398R probably damaging Het
Other mutations in Disp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Disp2 APN 2 118786278 missense probably damaging 1.00
IGL00970:Disp2 APN 2 118791793 missense probably damaging 1.00
IGL01790:Disp2 APN 2 118790880 missense probably damaging 1.00
IGL01809:Disp2 APN 2 118787264 splice site probably benign
IGL02069:Disp2 APN 2 118790680 missense possibly damaging 0.93
IGL02140:Disp2 APN 2 118790869 missense probably benign
IGL02155:Disp2 APN 2 118791804 missense probably damaging 1.00
IGL02884:Disp2 APN 2 118787551 splice site probably benign
IGL03113:Disp2 APN 2 118790778 unclassified probably null
IGL03194:Disp2 APN 2 118787629 missense probably damaging 1.00
R0109:Disp2 UTSW 2 118791816 missense probably damaging 1.00
R0126:Disp2 UTSW 2 118790338 missense probably damaging 1.00
R0603:Disp2 UTSW 2 118792006 missense probably damaging 1.00
R0610:Disp2 UTSW 2 118792236 missense probably benign 0.02
R0639:Disp2 UTSW 2 118790844 missense possibly damaging 0.74
R0673:Disp2 UTSW 2 118790844 missense possibly damaging 0.74
R0755:Disp2 UTSW 2 118789762 missense probably benign 0.00
R0781:Disp2 UTSW 2 118790439 missense probably damaging 1.00
R1110:Disp2 UTSW 2 118790439 missense probably damaging 1.00
R1148:Disp2 UTSW 2 118806418 critical splice donor site probably null
R1148:Disp2 UTSW 2 118806418 critical splice donor site probably null
R1243:Disp2 UTSW 2 118791822 missense probably damaging 1.00
R1587:Disp2 UTSW 2 118791583 missense probably damaging 1.00
R1739:Disp2 UTSW 2 118791550 missense probably damaging 1.00
R1771:Disp2 UTSW 2 118791297 nonsense probably null
R1781:Disp2 UTSW 2 118792561 missense probably damaging 0.96
R1918:Disp2 UTSW 2 118791927 missense probably benign
R1956:Disp2 UTSW 2 118792223 missense probably benign 0.02
R2167:Disp2 UTSW 2 118791685 missense probably damaging 1.00
R2206:Disp2 UTSW 2 118792244 missense probably benign 0.02
R4031:Disp2 UTSW 2 118791880 missense probably benign 0.27
R4617:Disp2 UTSW 2 118790162 missense probably benign
R4656:Disp2 UTSW 2 118790563 missense probably damaging 1.00
R4684:Disp2 UTSW 2 118792756 missense probably damaging 1.00
R4696:Disp2 UTSW 2 118791684 nonsense probably null
R4697:Disp2 UTSW 2 118791684 nonsense probably null
R4738:Disp2 UTSW 2 118790326 missense probably damaging 0.97
R4834:Disp2 UTSW 2 118792504 missense probably benign 0.09
R4914:Disp2 UTSW 2 118790454 missense probably damaging 0.99
R4915:Disp2 UTSW 2 118790454 missense probably damaging 0.99
R4918:Disp2 UTSW 2 118790454 missense probably damaging 0.99
R5045:Disp2 UTSW 2 118792062 missense probably benign 0.03
R5208:Disp2 UTSW 2 118791805 missense probably damaging 1.00
R5303:Disp2 UTSW 2 118810848 unclassified probably benign
R5350:Disp2 UTSW 2 118787575 missense probably benign 0.23
R5355:Disp2 UTSW 2 118786911 missense probably benign 0.00
R6011:Disp2 UTSW 2 118790820 missense possibly damaging 0.65
R6031:Disp2 UTSW 2 118789794 missense probably benign 0.01
R6031:Disp2 UTSW 2 118789794 missense probably benign 0.01
R6139:Disp2 UTSW 2 118790662 missense probably damaging 0.97
R6169:Disp2 UTSW 2 118791550 missense probably damaging 1.00
R6187:Disp2 UTSW 2 118792143 missense probably damaging 1.00
R6209:Disp2 UTSW 2 118786921 missense probably damaging 1.00
R6250:Disp2 UTSW 2 118790766 missense probably damaging 1.00
R6392:Disp2 UTSW 2 118790749 missense probably damaging 1.00
Posted On2015-04-16