Incidental Mutation 'R7138:Disp2'
ID 553168
Institutional Source Beutler Lab
Gene Symbol Disp2
Ensembl Gene ENSMUSG00000040035
Gene Name dispatched RND transporter family member 2
Synonyms B230210L08Rik, DispB
MMRRC Submission 045249-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.896) question?
Stock # R7138 (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 A at 118617361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 118 (H118Q)
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: H118Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: H118Q

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: H118Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000070031
Gene: ENSMUSG00000040035
AA Change: H118Q

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: H118Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106467
Gene: ENSMUSG00000040035
AA Change: H118Q

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: H118Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106470
Gene: ENSMUSG00000040035
AA Change: H118Q

DomainStartEndE-ValueType
transmembrane domain 123 145 N/A INTRINSIC
low complexity region 195 203 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,899,113 (GRCm39) C698* probably null Het
Acacb G A 5: 114,345,387 (GRCm39) V947M probably benign Het
Acadsb T G 7: 131,042,968 (GRCm39) L343R probably damaging Het
Adgrf2 C T 17: 43,021,874 (GRCm39) E317K probably damaging Het
Agap2 A G 10: 126,923,154 (GRCm39) T663A unknown Het
Akap8 A T 17: 32,535,515 (GRCm39) F166L possibly damaging Het
Ankrd17 A T 5: 90,390,836 (GRCm39) M2278K probably benign Het
Avl9 T C 6: 56,705,242 (GRCm39) S148P probably damaging Het
Brf1 T C 12: 112,933,835 (GRCm39) E266G probably damaging Het
Cabin1 T C 10: 75,581,187 (GRCm39) K380E probably damaging Het
Catsper2 T C 2: 121,227,544 (GRCm39) D542G possibly damaging Het
Cbln4 C A 2: 171,884,095 (GRCm39) D42Y probably damaging Het
Ccn6 T A 10: 39,034,473 (GRCm39) Q43L possibly damaging Het
Cd5 C T 19: 10,697,668 (GRCm39) R437Q probably damaging Het
Ceacam18 G C 7: 43,288,706 (GRCm39) E152D possibly damaging Het
Chd8 A G 14: 52,451,955 (GRCm39) S1347P possibly damaging Het
Chodl T G 16: 78,738,335 (GRCm39) I101R probably damaging Het
Clk4 T G 11: 51,168,759 (GRCm39) F377L probably damaging Het
Cntnap3 C T 13: 64,929,539 (GRCm39) probably null Het
Dab2 A G 15: 6,458,780 (GRCm39) S231G probably benign Het
Dnah10 T C 5: 124,900,009 (GRCm39) F3869S probably damaging Het
Edil3 C T 13: 89,279,847 (GRCm39) T175I probably damaging Het
Eif1ad18 T G 12: 88,050,648 (GRCm39) I61R probably damaging Het
Fap A G 2: 62,372,522 (GRCm39) S319P probably benign Het
Frmpd2 T A 14: 33,293,761 (GRCm39) V1309E probably benign Het
Galntl5 T A 5: 25,394,842 (GRCm39) S70T probably benign Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Gna15 G A 10: 81,343,881 (GRCm39) T260M probably damaging Het
Gucy2c A G 6: 136,705,342 (GRCm39) I531T probably damaging Het
Heatr5b A G 17: 79,135,417 (GRCm39) V238A probably damaging Het
Htr2a A G 14: 74,943,182 (GRCm39) Y254C probably damaging Het
Inpp5b A G 4: 124,679,065 (GRCm39) R491G probably damaging Het
Kcnt2 C T 1: 140,523,778 (GRCm39) L1093F possibly damaging Het
Kcp C A 6: 29,491,861 (GRCm39) E922* probably null Het
Lrp2 G A 2: 69,296,089 (GRCm39) A3340V possibly damaging Het
Lrrn1 T G 6: 107,545,336 (GRCm39) V378G probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Net1 G A 13: 3,938,510 (GRCm39) R126C probably damaging Het
Nipsnap3a T C 4: 52,993,978 (GRCm39) C20R probably benign Het
Nxpe2 C T 9: 48,232,006 (GRCm39) C317Y probably damaging Het
Or10v9 T A 19: 11,832,652 (GRCm39) I222F probably damaging Het
Or52h1 T C 7: 103,829,504 (GRCm39) Y37C probably damaging Het
Or8b8 T C 9: 37,809,360 (GRCm39) I220T probably damaging Het
Or8g54 T G 9: 39,707,086 (GRCm39) Y138* probably null Het
Orm1 T A 4: 63,262,949 (GRCm39) W39R probably damaging Het
Pds5b A T 5: 150,724,142 (GRCm39) K1240* probably null Het
Pdss1 T A 2: 22,802,681 (GRCm39) H173Q probably damaging Het
Pebp1 A G 5: 117,423,882 (GRCm39) W84R probably damaging Het
Pla2g4e C T 2: 120,001,759 (GRCm39) C630Y probably damaging Het
Plaat3 T A 19: 7,556,550 (GRCm39) V117E probably damaging Het
Plekho2 G T 9: 65,463,635 (GRCm39) Q405K probably benign Het
Plppr2 T A 9: 21,855,708 (GRCm39) V227E probably damaging Het
Pphln1-ps1 T A 16: 13,495,589 (GRCm39) D229E probably benign Het
Rapgef4 T C 2: 72,028,707 (GRCm39) S393P probably damaging Het
Rapgefl1 A G 11: 98,737,900 (GRCm39) probably null Het
Ripk3 C A 14: 56,025,803 (GRCm39) R19L probably benign Het
Rnase10 G T 14: 51,247,167 (GRCm39) V182F probably damaging Het
Rsf1 T A 7: 97,319,002 (GRCm39) S917R Het
Sephs2 T C 7: 126,872,187 (GRCm39) N302S possibly damaging Het
Slc13a2 C T 11: 78,289,950 (GRCm39) V455M possibly damaging Het
Slc30a2 A T 4: 134,071,429 (GRCm39) D54V probably benign Het
Slco6c1 T C 1: 97,047,706 (GRCm39) E199G possibly damaging Het
Snx27 A T 3: 94,436,247 (GRCm39) M256K probably benign Het
Spag4 T A 2: 155,908,519 (GRCm39) S150T probably benign Het
Spon1 T A 7: 113,635,945 (GRCm39) C720S probably damaging Het
Tbc1d22a T C 15: 86,123,356 (GRCm39) S166P probably benign Het
Tbc1d9 T C 8: 83,937,113 (GRCm39) I65T probably damaging Het
Tmem176a T A 6: 48,820,953 (GRCm39) V141D probably damaging Het
Tmem268 G A 4: 63,480,687 (GRCm39) probably benign Het
Tonsl A G 15: 76,518,976 (GRCm39) V519A probably benign Het
Ttn G A 2: 76,612,376 (GRCm39) P17204S possibly damaging Het
Wrap53 T A 11: 69,454,694 (GRCm39) D225V probably benign Het
Zfhx4 G A 3: 5,477,107 (GRCm39) A3241T possibly damaging Het
Zfp1002 T C 2: 150,097,372 (GRCm39) H47R probably damaging Het
Znfx1 T C 2: 166,898,697 (GRCm39) R76G 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
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
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
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'- ACAGGCAGGAACGCACTTTC -3'
(R):5'- TTGGTGATCCAGAACTCACCAAC -3'

Sequencing Primer
(F):5'- AACGCACTTTCCGGATGC -3'
(R):5'- GATAGATCAACTGTCTGCCCTAG -3'
Posted On 2019-05-15