Incidental Mutation 'R6209:Disp2'
ID 503308
Institutional Source Beutler Lab
Gene Symbol Disp2
Ensembl Gene ENSMUSG00000040035
Gene Name dispatched RND transporter family member 2
Synonyms B230210L08Rik, DispB
MMRRC Submission 044343-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.896) question?
Stock # R6209 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 118610183-118625656 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118617402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 132 (L132P)
Ref Sequence ENSEMBL: ENSMUSP00000106467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037547] [ENSMUST00000063975] [ENSMUST00000110843] [ENSMUST00000110846]
AlphaFold Q8CIP5
Predicted Effect probably damaging
Transcript: ENSMUST00000037547
AA Change: L132P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: L132P

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 damaging
Transcript: ENSMUST00000063975
AA Change: L132P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070031
Gene: ENSMUSG00000040035
AA Change: L132P

DomainStartEndE-ValueType
transmembrane domain 123 145 N/A INTRINSIC
low complexity region 195 203 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110843
AA Change: L132P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106467
Gene: ENSMUSG00000040035
AA Change: L132P

DomainStartEndE-ValueType
transmembrane domain 123 145 N/A INTRINSIC
low complexity region 195 203 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110846
AA Change: L132P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106470
Gene: ENSMUSG00000040035
AA Change: L132P

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 T A 1: 38,232,670 (GRCm39) M990L probably benign Het
Agl A T 3: 116,578,845 (GRCm39) Y429* probably null Het
Ahnak A T 19: 8,989,930 (GRCm39) K3738M probably damaging Het
Amn G T 12: 111,241,845 (GRCm39) V304L probably damaging Het
Ap3s1 G A 18: 46,912,318 (GRCm39) V113I probably benign Het
Arhgef28 A T 13: 98,065,917 (GRCm39) probably null Het
Atad2 A G 15: 57,981,811 (GRCm39) S18P probably damaging Het
Bhmt1b C T 18: 87,775,341 (GRCm39) A288V probably damaging Het
C4b T A 17: 34,960,061 (GRCm39) E305V possibly damaging Het
Caskin1 T C 17: 24,726,095 (GRCm39) S1401P possibly damaging Het
Cblc A T 7: 19,519,230 (GRCm39) V366D possibly damaging Het
Cdk17 A T 10: 93,044,093 (GRCm39) T11S probably benign Het
Cenpc1 A G 5: 86,181,509 (GRCm39) S619P probably benign Het
Clec4d T G 6: 123,247,488 (GRCm39) probably null Het
Dync2h1 T C 9: 7,165,677 (GRCm39) K528R probably benign Het
Fbxw26 A G 9: 109,547,033 (GRCm39) I464T possibly damaging Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gabbr2 A G 4: 46,804,069 (GRCm39) V262A probably damaging Het
Galnt17 T A 5: 131,110,434 (GRCm39) M302L probably benign Het
Gpn3 T C 5: 122,520,175 (GRCm39) I243T probably benign Het
Gpr160 T C 3: 30,950,141 (GRCm39) V71A possibly damaging Het
Gramd1b G T 9: 40,244,946 (GRCm39) A154D probably damaging Het
Grid2ip G A 5: 143,366,184 (GRCm39) S379N probably damaging Het
H60b C A 10: 22,163,043 (GRCm39) T206N probably benign Het
Hydin A T 8: 111,320,434 (GRCm39) I4493F probably benign Het
Il19 C T 1: 130,866,852 (GRCm39) E43K possibly damaging Het
Ints2 A G 11: 86,115,884 (GRCm39) Y782H probably damaging Het
Itprid1 T A 6: 55,851,306 (GRCm39) I62N probably damaging Het
Jph1 C A 1: 17,167,810 (GRCm39) D7Y probably damaging Het
Lipo2 T C 19: 33,726,852 (GRCm39) I62V probably damaging Het
Map7 G A 10: 20,152,026 (GRCm39) probably null Het
Matk T G 10: 81,095,422 (GRCm39) W81G probably damaging Het
Matn4 T C 2: 164,242,735 (GRCm39) Y121C probably damaging Het
Mical2 G A 7: 111,923,293 (GRCm39) probably null Het
Miga2 T G 2: 30,271,674 (GRCm39) Y399D probably damaging Het
Mocos A T 18: 24,799,672 (GRCm39) E302V probably benign Het
Mrpl11 C T 19: 5,014,743 (GRCm39) A172V probably damaging Het
Mrpl48 A C 7: 100,209,001 (GRCm39) Y108D probably damaging Het
Mtr A G 13: 12,205,278 (GRCm39) S1061P probably benign Het
Myh11 T A 16: 14,026,155 (GRCm39) K1309* probably null Het
Myom2 G A 8: 15,154,173 (GRCm39) V704I possibly damaging Het
Nars2 A G 7: 96,706,728 (GRCm39) H413R probably benign Het
Nckap1 A G 2: 80,355,946 (GRCm39) L619P probably damaging Het
Notch1 T C 2: 26,362,817 (GRCm39) N983S probably damaging Het
Nup210 A G 6: 91,002,337 (GRCm39) V717A probably benign Het
P4ha3 G T 7: 99,966,292 (GRCm39) G479V probably benign Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Phf11a A G 14: 59,525,028 (GRCm39) S59P probably damaging Het
Phyhip G A 14: 70,700,798 (GRCm39) S95N probably benign Het
Ppat A G 5: 77,065,993 (GRCm39) V375A probably benign Het
Prkdc A G 16: 15,608,456 (GRCm39) E3086G probably damaging Het
Psg22 A G 7: 18,453,599 (GRCm39) E98G probably damaging Het
Rabgap1 A T 2: 37,453,610 (GRCm39) K1013* probably null Het
Retreg3 C T 11: 101,010,526 (GRCm39) G27D probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sema6a A T 18: 47,431,369 (GRCm39) probably null Het
Septin10 T C 10: 59,006,670 (GRCm39) E349G probably damaging Het
Serpina1c A G 12: 103,863,429 (GRCm39) V257A probably damaging Het
Sgpp2 T A 1: 78,367,119 (GRCm39) M84K probably damaging Het
Shoc1 A G 4: 59,043,869 (GRCm39) *1482R probably null Het
Skint11 A G 4: 114,101,907 (GRCm39) S116G possibly damaging Het
Slc2a5 G A 4: 150,227,557 (GRCm39) V459I probably benign Het
Smarca2 T G 19: 26,748,404 (GRCm39) Y126* probably null Het
Stab2 T G 10: 86,758,867 (GRCm39) N1024H possibly damaging Het
Sting1 A T 18: 35,869,155 (GRCm39) I178N probably damaging Het
Svep1 A C 4: 58,128,869 (GRCm39) F609L probably benign Het
Tbc1d2 G A 4: 46,614,068 (GRCm39) T671I probably damaging Het
Thoc5 T C 11: 4,855,697 (GRCm39) I82T probably damaging Het
Tmem213 G T 6: 38,092,517 (GRCm39) C83F probably damaging Het
Topaz1 G A 9: 122,579,570 (GRCm39) D827N possibly damaging Het
Trappc10 C A 10: 78,050,646 (GRCm39) G265V possibly damaging Het
Ttn A G 2: 76,539,808 (GRCm39) S26066P probably damaging Het
Zfp292 G T 4: 34,809,442 (GRCm39) Q1201K probably benign Het
Zfp354a T A 11: 50,951,815 (GRCm39) probably null Het
Zfp418 T C 7: 7,185,096 (GRCm39) V353A possibly damaging Het
Zfp444 G A 7: 6,192,948 (GRCm39) probably benign Het
Zfp503 C A 14: 22,035,778 (GRCm39) Q379H probably damaging Het
Zfp804a A G 2: 82,088,462 (GRCm39) K764E probably damaging 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
PIT4453001:Disp2 UTSW 2 118,618,125 (GRCm39) missense probably benign 0.01
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
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'- AGAGGTAGGGCCAGTCTTTC -3'
(R):5'- ATCTCTCTTTGGTGATCCAGAACTC -3'

Sequencing Primer
(F):5'- TCTCTGTGCTCCCAGGAGTG -3'
(R):5'- TTTGGTGATCCAGAACTCACCAAC -3'
Posted On 2018-02-27