Incidental Mutation 'PIT4453001:Disp2'
ID 555290
Institutional Source Beutler Lab
Gene Symbol Disp2
Ensembl Gene ENSMUSG00000040035
Gene Name dispatched RND transporter family member 2
Synonyms B230210L08Rik, DispB
Accession Numbers
Essential gene? Probably essential (E-score: 0.896) question?
Stock # PIT4453001 (G1)
Quality Score 157.009
Status Not validated
Chromosome 2
Chromosomal Location 118610183-118625656 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118618125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 224 (V224M)
Ref Sequence ENSEMBL: ENSMUSP00000037136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037547] [ENSMUST00000063975] [ENSMUST00000110843] [ENSMUST00000110846]
AlphaFold Q8CIP5
Predicted Effect probably benign
Transcript: ENSMUST00000037547
AA Change: V224M

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: V224M

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
AA Change: V224M

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000070031
Gene: ENSMUSG00000040035
AA Change: V224M

DomainStartEndE-ValueType
transmembrane domain 123 145 N/A INTRINSIC
low complexity region 195 203 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110843
AA Change: V224M

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000106467
Gene: ENSMUSG00000040035
AA Change: V224M

DomainStartEndE-ValueType
transmembrane domain 123 145 N/A INTRINSIC
low complexity region 195 203 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110846
AA Change: V224M

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000106470
Gene: ENSMUSG00000040035
AA Change: V224M

DomainStartEndE-ValueType
transmembrane domain 123 145 N/A INTRINSIC
low complexity region 195 203 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.9%
  • 10x: 85.6%
  • 20x: 74.1%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T G 3: 121,898,965 (GRCm39) I649S probably damaging Het
Abcc2 T A 19: 43,792,221 (GRCm39) L334* probably null Het
Adam28 A T 14: 68,872,325 (GRCm39) S306T probably benign Het
Adam34 T A 8: 44,104,349 (GRCm39) D432V probably damaging Het
Adcy7 A G 8: 89,050,264 (GRCm39) Y723C probably benign Het
Adgre5 T A 8: 84,451,089 (GRCm39) M713L probably benign Het
Aebp2 C A 6: 140,583,412 (GRCm39) C295* probably null Het
Amn1 G T 6: 149,072,357 (GRCm39) Q127K probably benign Het
Atcay C T 10: 81,046,383 (GRCm39) V314M probably damaging Het
Atp1a1 T C 3: 101,488,495 (GRCm39) E847G probably benign Het
Atp2b1 A G 10: 98,852,840 (GRCm39) E1039G probably benign Het
Caskin1 A G 17: 24,718,266 (GRCm39) Y292C probably damaging Het
Cftr A G 6: 18,214,105 (GRCm39) T94A probably damaging Het
Ciart T A 3: 95,787,788 (GRCm39) K182M probably damaging Het
Col1a2 A C 6: 4,527,079 (GRCm39) S603R possibly damaging Het
Cspp1 C A 1: 10,145,097 (GRCm39) S298R possibly damaging Het
Cul7 T A 17: 46,962,746 (GRCm39) C126S probably damaging Het
Cyp2c55 A T 19: 39,000,235 (GRCm39) I145F probably damaging Het
Cypt4 G C 9: 24,536,770 (GRCm39) A87P probably damaging Het
Dlgap5 TTC T 14: 47,638,979 (GRCm39) probably null Het
Dock1 A G 7: 134,754,029 (GRCm39) K1602R probably benign Het
Ears2 T C 7: 121,647,562 (GRCm39) I241V probably benign Het
Eml6 T C 11: 29,752,489 (GRCm39) T975A probably damaging Het
Ephb2 T C 4: 136,388,121 (GRCm39) T660A probably benign Het
Fbxw7 G A 3: 84,872,621 (GRCm39) V268M Het
Gart A G 16: 91,433,426 (GRCm39) F289S probably damaging Het
Gmcl1 G T 6: 86,681,520 (GRCm39) N391K probably benign Het
Greb1l A C 18: 10,533,031 (GRCm39) Q975P probably damaging Het
Greb1l G T 18: 10,533,032 (GRCm39) Q975H probably benign Het
Grik5 C A 7: 24,710,119 (GRCm39) R872L probably damaging Het
Hmox2 T A 16: 4,582,921 (GRCm39) I218N probably damaging Het
Hook1 A T 4: 95,903,089 (GRCm39) D526V probably damaging Het
Ifna4 A T 4: 88,760,191 (GRCm39) N32Y probably damaging Het
Ighg2b T A 12: 113,270,492 (GRCm39) N213Y unknown Het
Itih4 G A 14: 30,623,127 (GRCm39) V900I probably benign Het
Itpr2 A T 6: 146,274,671 (GRCm39) F837Y probably damaging Het
Kif3a T C 11: 53,469,941 (GRCm39) V147A probably benign Het
Klra9 T A 6: 130,168,284 (GRCm39) probably benign Het
Lamp3 G T 16: 19,492,210 (GRCm39) Q345K probably benign Het
Ltbp3 G A 19: 5,807,822 (GRCm39) E1188K probably damaging Het
Med1 T A 11: 98,049,243 (GRCm39) I518L probably benign Het
Mis18bp1 T C 12: 65,205,447 (GRCm39) T242A probably damaging Het
Nemp1 T A 10: 127,532,123 (GRCm39) F392Y probably benign Het
Obscn C A 11: 58,951,802 (GRCm39) G3984W probably damaging Het
Obscn T A 11: 58,960,660 (GRCm39) H3217L possibly damaging Het
Or10ak7 A G 4: 118,791,823 (GRCm39) M74T probably benign Het
Or13j1 A G 4: 43,706,464 (GRCm39) Y35H probably damaging Het
Or2d3b C T 7: 106,514,136 (GRCm39) H244Y probably damaging Het
Or2d3c T C 7: 106,526,049 (GRCm39) I206V probably benign Het
Or5l14 C T 2: 87,792,802 (GRCm39) V145M possibly damaging Het
P4ha1 G T 10: 59,186,294 (GRCm39) A258S probably benign Het
Parn T C 16: 13,425,145 (GRCm39) I423V probably benign Het
Pcdh20 C A 14: 88,704,744 (GRCm39) S852I probably damaging Het
Pcnx3 A G 19: 5,722,784 (GRCm39) probably null Het
Pcsk1 A T 13: 75,260,769 (GRCm39) I331F probably damaging Het
Pkd1l2 G T 8: 117,748,761 (GRCm39) S1803R probably benign Het
Pkd1l3 C A 8: 110,387,433 (GRCm39) N1792K probably damaging Het
Plekhg1 C A 10: 3,913,469 (GRCm39) Q1119K Het
Prr30 T A 14: 101,436,371 (GRCm39) T64S probably benign Het
Rec114 T C 9: 58,567,653 (GRCm39) N111S probably benign Het
Reck G A 4: 43,895,850 (GRCm39) V79I probably benign Het
Rexo1 A G 10: 80,386,231 (GRCm39) F276L probably damaging Het
Rgs6 T C 12: 83,138,553 (GRCm39) Y296H probably damaging Het
Sdk1 A G 5: 142,197,793 (GRCm39) R2149G probably benign Het
Slc20a2 C A 8: 23,025,398 (GRCm39) F33L probably damaging Het
Spopl T A 2: 23,435,461 (GRCm39) T25S probably damaging Het
Srcap A T 7: 127,148,492 (GRCm39) I1947F possibly damaging Het
Srek1 A C 13: 103,881,291 (GRCm39) probably null Het
St8sia1 C T 6: 142,774,978 (GRCm39) W200* probably null Het
Tas2r106 A T 6: 131,655,465 (GRCm39) F129I possibly damaging Het
Tbrg4 A T 11: 6,570,857 (GRCm39) L205Q probably damaging Het
Tchh C A 3: 93,353,187 (GRCm39) R876S unknown Het
Thap12 G T 7: 98,364,245 (GRCm39) A138S probably benign Het
Tjp1 C T 7: 64,993,362 (GRCm39) probably null Het
Traf4 G A 11: 78,052,360 (GRCm39) P95L probably benign Het
Trappc9 ATCTC ATCTCTC 15: 72,903,447 (GRCm39) probably null Het
Usp20 G A 2: 30,907,498 (GRCm39) V677M possibly damaging Het
Usp50 C A 2: 126,625,236 (GRCm39) probably benign Het
Vmn1r21 T C 6: 57,821,307 (GRCm39) T46A probably benign Het
Vmn2r54 T A 7: 12,363,669 (GRCm39) H408L probably benign Het
Zfp266 T C 9: 20,417,299 (GRCm39) T30A probably benign Het
Zfp536 T C 7: 37,179,182 (GRCm39) H1141R probably benign Het
Other mutations in Disp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Disp2 APN 2 118,616,759 (GRCm39) missense probably damaging 1.00
IGL00970:Disp2 APN 2 118,622,274 (GRCm39) missense probably damaging 1.00
IGL01790:Disp2 APN 2 118,621,361 (GRCm39) missense probably damaging 1.00
IGL01809:Disp2 APN 2 118,617,745 (GRCm39) splice site probably benign
IGL02069:Disp2 APN 2 118,621,161 (GRCm39) missense possibly damaging 0.93
IGL02140:Disp2 APN 2 118,621,350 (GRCm39) missense probably benign
IGL02143:Disp2 APN 2 118,620,450 (GRCm39) missense probably damaging 1.00
IGL02155:Disp2 APN 2 118,622,285 (GRCm39) missense probably damaging 1.00
IGL02884:Disp2 APN 2 118,618,032 (GRCm39) splice site probably benign
IGL03113:Disp2 APN 2 118,621,259 (GRCm39) splice site probably null
IGL03194:Disp2 APN 2 118,618,110 (GRCm39) missense probably damaging 1.00
R0109:Disp2 UTSW 2 118,622,297 (GRCm39) missense probably damaging 1.00
R0126:Disp2 UTSW 2 118,620,819 (GRCm39) missense probably damaging 1.00
R0603:Disp2 UTSW 2 118,622,487 (GRCm39) missense probably damaging 1.00
R0610:Disp2 UTSW 2 118,622,717 (GRCm39) missense probably benign 0.02
R0639:Disp2 UTSW 2 118,621,325 (GRCm39) missense possibly damaging 0.74
R0673:Disp2 UTSW 2 118,621,325 (GRCm39) missense possibly damaging 0.74
R0755:Disp2 UTSW 2 118,620,243 (GRCm39) missense probably benign 0.00
R0781:Disp2 UTSW 2 118,620,920 (GRCm39) missense probably damaging 1.00
R1110:Disp2 UTSW 2 118,620,920 (GRCm39) missense probably damaging 1.00
R1148:Disp2 UTSW 2 118,636,899 (GRCm39) critical splice donor site probably null
R1148:Disp2 UTSW 2 118,636,899 (GRCm39) critical splice donor site probably null
R1243:Disp2 UTSW 2 118,622,303 (GRCm39) missense probably damaging 1.00
R1587:Disp2 UTSW 2 118,622,064 (GRCm39) missense probably damaging 1.00
R1739:Disp2 UTSW 2 118,622,031 (GRCm39) missense probably damaging 1.00
R1771:Disp2 UTSW 2 118,621,778 (GRCm39) nonsense probably null
R1781:Disp2 UTSW 2 118,623,042 (GRCm39) missense probably damaging 0.96
R1918:Disp2 UTSW 2 118,622,408 (GRCm39) missense probably benign
R1956:Disp2 UTSW 2 118,622,704 (GRCm39) missense probably benign 0.02
R2167:Disp2 UTSW 2 118,622,166 (GRCm39) missense probably damaging 1.00
R2206:Disp2 UTSW 2 118,622,725 (GRCm39) missense probably benign 0.02
R4031:Disp2 UTSW 2 118,622,361 (GRCm39) missense probably benign 0.27
R4617:Disp2 UTSW 2 118,620,643 (GRCm39) missense probably benign
R4656:Disp2 UTSW 2 118,621,044 (GRCm39) missense probably damaging 1.00
R4684:Disp2 UTSW 2 118,623,237 (GRCm39) missense probably damaging 1.00
R4696:Disp2 UTSW 2 118,622,165 (GRCm39) nonsense probably null
R4697:Disp2 UTSW 2 118,622,165 (GRCm39) nonsense probably null
R4738:Disp2 UTSW 2 118,620,807 (GRCm39) missense probably damaging 0.97
R4834:Disp2 UTSW 2 118,622,985 (GRCm39) missense probably benign 0.09
R4914:Disp2 UTSW 2 118,620,935 (GRCm39) missense probably damaging 0.99
R4915:Disp2 UTSW 2 118,620,935 (GRCm39) missense probably damaging 0.99
R4918:Disp2 UTSW 2 118,620,935 (GRCm39) missense probably damaging 0.99
R5045:Disp2 UTSW 2 118,622,543 (GRCm39) missense probably benign 0.03
R5208:Disp2 UTSW 2 118,622,286 (GRCm39) missense probably damaging 1.00
R5303:Disp2 UTSW 2 118,641,329 (GRCm39) unclassified probably benign
R5350:Disp2 UTSW 2 118,618,056 (GRCm39) missense probably benign 0.23
R5355:Disp2 UTSW 2 118,617,392 (GRCm39) missense probably benign 0.00
R6011:Disp2 UTSW 2 118,621,301 (GRCm39) missense possibly damaging 0.65
R6031:Disp2 UTSW 2 118,620,275 (GRCm39) missense probably benign 0.01
R6031:Disp2 UTSW 2 118,620,275 (GRCm39) missense probably benign 0.01
R6139:Disp2 UTSW 2 118,621,143 (GRCm39) missense probably damaging 0.97
R6169:Disp2 UTSW 2 118,622,031 (GRCm39) missense probably damaging 1.00
R6187:Disp2 UTSW 2 118,622,624 (GRCm39) missense probably damaging 1.00
R6209:Disp2 UTSW 2 118,617,402 (GRCm39) missense probably damaging 1.00
R6250:Disp2 UTSW 2 118,621,247 (GRCm39) missense probably damaging 1.00
R6392:Disp2 UTSW 2 118,621,230 (GRCm39) missense probably damaging 1.00
R7138:Disp2 UTSW 2 118,617,361 (GRCm39) missense probably benign
R7156:Disp2 UTSW 2 118,622,292 (GRCm39) missense probably damaging 1.00
R7230:Disp2 UTSW 2 118,622,286 (GRCm39) missense probably damaging 1.00
R7400:Disp2 UTSW 2 118,622,367 (GRCm39) missense probably damaging 1.00
R7460:Disp2 UTSW 2 118,620,261 (GRCm39) missense probably damaging 1.00
R7505:Disp2 UTSW 2 118,621,569 (GRCm39) missense probably damaging 1.00
R7542:Disp2 UTSW 2 118,621,599 (GRCm39) missense probably damaging 0.97
R7728:Disp2 UTSW 2 118,621,961 (GRCm39) missense probably benign 0.31
R7757:Disp2 UTSW 2 118,621,391 (GRCm39) missense probably damaging 1.00
R7798:Disp2 UTSW 2 118,622,360 (GRCm39) missense probably benign
R7945:Disp2 UTSW 2 118,623,270 (GRCm39) missense probably damaging 1.00
R8013:Disp2 UTSW 2 118,620,163 (GRCm39) nonsense probably null
R8085:Disp2 UTSW 2 118,617,452 (GRCm39) missense possibly damaging 0.94
R8179:Disp2 UTSW 2 118,623,030 (GRCm39) missense probably damaging 0.99
R8288:Disp2 UTSW 2 118,620,762 (GRCm39) missense probably damaging 1.00
R8345:Disp2 UTSW 2 118,641,284 (GRCm39) missense unknown
R8385:Disp2 UTSW 2 118,620,891 (GRCm39) missense probably damaging 1.00
R8700:Disp2 UTSW 2 118,620,340 (GRCm39) nonsense probably null
R8808:Disp2 UTSW 2 118,620,489 (GRCm39) missense probably damaging 1.00
R8880:Disp2 UTSW 2 118,621,239 (GRCm39) missense probably damaging 1.00
R8997:Disp2 UTSW 2 118,617,467 (GRCm39) missense probably damaging 1.00
R9022:Disp2 UTSW 2 118,621,179 (GRCm39) missense probably benign 0.22
R9181:Disp2 UTSW 2 118,617,393 (GRCm39) missense probably benign 0.08
R9660:Disp2 UTSW 2 118,620,627 (GRCm39) missense probably benign
Z1177:Disp2 UTSW 2 118,621,308 (GRCm39) missense probably damaging 1.00
Z1177:Disp2 UTSW 2 118,620,183 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGACTTCTCCAAAGACATGGGAG -3'
(R):5'- TGACTGGAGGACTTGAGACC -3'

Sequencing Primer
(F):5'- TTCTCCAAAGACATGGGAGAGCTG -3'
(R):5'- GGAGGACTTGAGACCGATTTTATTAC -3'
Posted On 2019-06-07