Incidental Mutation 'R7211:Disp3'
ID 561054
Institutional Source Beutler Lab
Gene Symbol Disp3
Ensembl Gene ENSMUSG00000041544
Gene Name dispatched RND transporter family member 3
Synonyms G630052C06Rik, Ptchd2
MMRRC Submission 045339-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7211 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 148324721-148372422 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 148325979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 1260 (V1260F)
Ref Sequence ENSEMBL: ENSMUSP00000038490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047720]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000047720
AA Change: V1260F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: V1260F

DomainStartEndE-ValueType
transmembrane domain 68 90 N/A INTRINSIC
low complexity region 159 171 N/A INTRINSIC
low complexity region 179 195 N/A INTRINSIC
Pfam:Patched 362 735 2.2e-21 PFAM
Pfam:MMPL 366 590 3.1e-14 PFAM
Pfam:Sterol-sensing 435 588 1.1e-17 PFAM
Pfam:Patched 1121 1301 1.6e-7 PFAM
transmembrane domain 1314 1333 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (84/85)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T A 2: 154,887,699 (GRCm39) V53E probably damaging Het
A1cf A G 19: 31,904,541 (GRCm39) Y268C probably benign Het
Adam34l T A 8: 44,078,914 (GRCm39) S437C probably damaging Het
Adamts13 C T 2: 26,879,310 (GRCm39) T621I probably benign Het
Akr1b7 A T 6: 34,398,049 (GRCm39) N293Y probably benign Het
Angpt2 T A 8: 18,791,147 (GRCm39) T50S probably benign Het
Anks1b C A 10: 90,346,932 (GRCm39) A744D possibly damaging Het
Aqr A G 2: 113,965,204 (GRCm39) V587A probably benign Het
Atm A G 9: 53,399,860 (GRCm39) V1540A probably benign Het
Brd10 A G 19: 29,763,712 (GRCm39) F121S Het
C4b A G 17: 34,954,508 (GRCm39) V887A possibly damaging Het
Cd200r1 A G 16: 44,609,120 (GRCm39) T26A probably benign Het
Ciao1 A G 2: 127,088,928 (GRCm39) probably null Het
Clba1 T A 12: 112,774,632 (GRCm39) probably null Het
Clca3a2 A G 3: 144,519,775 (GRCm39) C200R probably benign Het
Col6a5 T A 9: 105,805,363 (GRCm39) Q1181L unknown Het
Copb2 T A 9: 98,456,198 (GRCm39) I244N probably damaging Het
Cpb2 A G 14: 75,512,430 (GRCm39) Y281C probably damaging Het
Dnajc2 C T 5: 21,981,777 (GRCm39) R123Q probably damaging Het
Dpysl2 T C 14: 67,067,425 (GRCm39) N162S probably damaging Het
Dsp T A 13: 38,372,511 (GRCm39) probably null Het
Edc4 T A 8: 106,612,941 (GRCm39) probably null Het
Efcab3 C A 11: 104,601,539 (GRCm39) A284D probably benign Het
Efcab3 G T 11: 104,615,435 (GRCm39) probably null Het
Epm2a T C 10: 11,219,419 (GRCm39) Y69H probably benign Het
Frzb C A 2: 80,248,669 (GRCm39) E262* probably null Het
Gaa T C 11: 119,175,030 (GRCm39) V877A possibly damaging Het
Gpnmb T C 6: 49,028,949 (GRCm39) I489T possibly damaging Het
Gpr31b T C 17: 13,271,104 (GRCm39) T22A probably benign Het
Gys1 T A 7: 45,097,684 (GRCm39) F477Y possibly damaging Het
Hoxc11 A C 15: 102,863,487 (GRCm39) E176A possibly damaging Het
Kcnk13 T A 12: 100,028,076 (GRCm39) F384I probably damaging Het
Ky A G 9: 102,386,349 (GRCm39) E59G probably benign Het
Lama4 T A 10: 38,881,491 (GRCm39) D93E probably damaging Het
Lrrc23 A T 6: 124,755,152 (GRCm39) N128K probably benign Het
Lrrc71 G T 3: 87,650,633 (GRCm39) Q210K possibly damaging Het
Map1a G A 2: 121,135,124 (GRCm39) R1980H probably benign Het
Med15 T C 16: 17,515,977 (GRCm39) D15G unknown Het
Mfng A T 15: 78,657,268 (GRCm39) S69T probably benign Het
Muc16 T G 9: 18,409,866 (GRCm39) S181R probably damaging Het
Mug1 A T 6: 121,857,498 (GRCm39) Q1074L possibly damaging Het
Myorg A G 4: 41,498,028 (GRCm39) I534T probably damaging Het
Nbea T A 3: 55,912,322 (GRCm39) N1155I probably benign Het
Nbeal1 T G 1: 60,240,110 (GRCm39) L159V probably damaging Het
Nudt1 C A 5: 140,323,402 (GRCm39) P118Q possibly damaging Het
Or2q1 A T 6: 42,794,950 (GRCm39) T182S probably benign Het
Or8g37 A C 9: 39,731,154 (GRCm39) Q73P possibly damaging Het
Pcdhga6 T A 18: 37,842,173 (GRCm39) V631D probably benign Het
Pcna A C 2: 132,091,792 (GRCm39) V203G probably damaging Het
Pgf G T 12: 85,222,549 (GRCm39) N33K probably benign Het
Pgm2 T C 5: 64,263,193 (GRCm39) L280P probably damaging Het
Plcg1 G A 2: 160,573,794 (GRCm39) A20T probably benign Het
Pou2af2 G T 9: 51,201,733 (GRCm39) Q108K probably damaging Het
Prdx5 G T 19: 6,884,958 (GRCm39) D126E probably damaging Het
Prkag2 T C 5: 25,200,296 (GRCm39) T20A probably benign Het
Prr14l T A 5: 32,987,431 (GRCm39) Q688L probably damaging Het
Pxdn T G 12: 30,034,903 (GRCm39) D253E possibly damaging Het
Rbm18 A T 2: 36,012,905 (GRCm39) C53* probably null Het
Rprm A T 2: 53,975,270 (GRCm39) L16Q probably benign Het
Saysd1 A G 14: 20,127,576 (GRCm39) F116S probably damaging Het
Scg3 A G 9: 75,589,366 (GRCm39) S96P probably benign Het
Scgb1b3 C T 7: 31,075,078 (GRCm39) L16F unknown Het
Sh3tc2 A G 18: 62,122,474 (GRCm39) T412A probably benign Het
Skint6 T C 4: 113,095,566 (GRCm39) N31S probably benign Het
Slc22a2 T C 17: 12,805,770 (GRCm39) probably null Het
Slc8a2 C T 7: 15,874,538 (GRCm39) T262I possibly damaging Het
Smarcc1 A T 9: 109,979,082 (GRCm39) K188N probably damaging Het
Taf6 T C 5: 138,177,088 (GRCm39) T660A possibly damaging Het
Tbx2 C T 11: 85,725,540 (GRCm39) R164C probably damaging Het
Tec T C 5: 72,939,355 (GRCm39) D220G probably null Het
Tfec A T 6: 16,867,464 (GRCm39) W59R probably damaging Het
Tmtc2 G T 10: 105,409,587 (GRCm39) S8R probably benign Het
Tmtc3 A T 10: 100,283,467 (GRCm39) M696K probably benign Het
Trpc3 A T 3: 36,694,882 (GRCm39) S691T possibly damaging Het
Ttf2 A T 3: 100,866,623 (GRCm39) M503K probably benign Het
Ttll7 A G 3: 146,619,031 (GRCm39) H312R probably damaging Het
Ttn T C 2: 76,598,032 (GRCm39) Y19627C probably damaging Het
Ugt2b35 T C 5: 87,149,177 (GRCm39) S143P probably benign Het
Usp53 A G 3: 122,751,299 (GRCm39) S253P probably damaging Het
Utp18 A G 11: 93,776,206 (GRCm39) V93A probably benign Het
Utrn T C 10: 12,277,079 (GRCm39) N3413D possibly damaging Het
Zhx1 T C 15: 57,916,647 (GRCm39) D533G possibly damaging Het
Other mutations in Disp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Disp3 APN 4 148,325,991 (GRCm39) missense probably benign 0.10
IGL01065:Disp3 APN 4 148,345,640 (GRCm39) missense probably damaging 1.00
IGL01800:Disp3 APN 4 148,334,258 (GRCm39) nonsense probably null
IGL01947:Disp3 APN 4 148,344,976 (GRCm39) missense probably damaging 1.00
IGL02510:Disp3 APN 4 148,337,158 (GRCm39) missense probably benign 0.00
IGL02573:Disp3 APN 4 148,355,906 (GRCm39) missense probably damaging 1.00
IGL02728:Disp3 APN 4 148,356,495 (GRCm39) missense probably damaging 1.00
IGL02931:Disp3 APN 4 148,333,658 (GRCm39) missense possibly damaging 0.94
R0164:Disp3 UTSW 4 148,338,708 (GRCm39) missense probably damaging 0.96
R0164:Disp3 UTSW 4 148,338,708 (GRCm39) missense probably damaging 0.96
R0257:Disp3 UTSW 4 148,335,211 (GRCm39) missense possibly damaging 0.87
R0409:Disp3 UTSW 4 148,356,416 (GRCm39) missense probably damaging 1.00
R0557:Disp3 UTSW 4 148,325,861 (GRCm39) missense possibly damaging 0.64
R0576:Disp3 UTSW 4 148,326,047 (GRCm39) missense possibly damaging 0.89
R1495:Disp3 UTSW 4 148,334,282 (GRCm39) missense probably benign 0.00
R1526:Disp3 UTSW 4 148,344,373 (GRCm39) missense probably benign 0.00
R1791:Disp3 UTSW 4 148,325,975 (GRCm39) missense probably damaging 1.00
R1856:Disp3 UTSW 4 148,356,089 (GRCm39) missense probably damaging 1.00
R1987:Disp3 UTSW 4 148,343,210 (GRCm39) missense probably damaging 0.97
R2030:Disp3 UTSW 4 148,344,423 (GRCm39) missense probably damaging 1.00
R2271:Disp3 UTSW 4 148,356,059 (GRCm39) missense possibly damaging 0.87
R2373:Disp3 UTSW 4 148,343,252 (GRCm39) missense probably damaging 1.00
R2566:Disp3 UTSW 4 148,325,880 (GRCm39) missense probably damaging 1.00
R3731:Disp3 UTSW 4 148,337,284 (GRCm39) missense probably benign 0.03
R4359:Disp3 UTSW 4 148,356,389 (GRCm39) missense probably benign 0.03
R4762:Disp3 UTSW 4 148,356,575 (GRCm39) missense probably damaging 1.00
R4950:Disp3 UTSW 4 148,342,583 (GRCm39) missense possibly damaging 0.94
R4975:Disp3 UTSW 4 148,328,673 (GRCm39) missense possibly damaging 0.79
R5218:Disp3 UTSW 4 148,327,333 (GRCm39) missense possibly damaging 0.88
R5523:Disp3 UTSW 4 148,342,554 (GRCm39) missense probably benign 0.14
R5556:Disp3 UTSW 4 148,342,614 (GRCm39) missense probably benign 0.14
R5857:Disp3 UTSW 4 148,333,640 (GRCm39) missense probably benign 0.01
R5933:Disp3 UTSW 4 148,325,770 (GRCm39) nonsense probably null
R5994:Disp3 UTSW 4 148,338,741 (GRCm39) missense possibly damaging 0.94
R6362:Disp3 UTSW 4 148,338,765 (GRCm39) missense possibly damaging 0.95
R6813:Disp3 UTSW 4 148,344,387 (GRCm39) missense probably benign 0.09
R7470:Disp3 UTSW 4 148,345,527 (GRCm39) missense possibly damaging 0.88
R7535:Disp3 UTSW 4 148,327,323 (GRCm39) missense probably damaging 0.99
R8093:Disp3 UTSW 4 148,354,973 (GRCm39) missense possibly damaging 0.93
R8357:Disp3 UTSW 4 148,345,572 (GRCm39) missense possibly damaging 0.86
R8457:Disp3 UTSW 4 148,345,572 (GRCm39) missense possibly damaging 0.86
R8506:Disp3 UTSW 4 148,326,027 (GRCm39) missense possibly damaging 0.77
R9182:Disp3 UTSW 4 148,354,841 (GRCm39) missense probably damaging 1.00
R9219:Disp3 UTSW 4 148,334,317 (GRCm39) missense possibly damaging 0.74
R9680:Disp3 UTSW 4 148,356,101 (GRCm39) missense probably damaging 1.00
R9696:Disp3 UTSW 4 148,345,611 (GRCm39) missense probably damaging 0.97
Z1088:Disp3 UTSW 4 148,356,200 (GRCm39) missense possibly damaging 0.63
Z1176:Disp3 UTSW 4 148,335,414 (GRCm39) missense probably damaging 1.00
Z1177:Disp3 UTSW 4 148,335,171 (GRCm39) missense probably damaging 1.00
Z1177:Disp3 UTSW 4 148,334,304 (GRCm39) missense probably benign 0.01
Z1177:Disp3 UTSW 4 148,334,203 (GRCm39) missense probably damaging 1.00
Z1177:Disp3 UTSW 4 148,355,024 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CACCCAGGGCCTTAAGAAAG -3'
(R):5'- TATCAGCATGGGATGGGAGC -3'

Sequencing Primer
(F):5'- AGGAAGTCCTGGTCCGG -3'
(R):5'- AGCAGTATACGCTGGTGTACC -3'
Posted On 2019-06-26