Incidental Mutation 'IGL02510:Disp3'
ID 296504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Disp3
Ensembl Gene ENSMUSG00000041544
Gene Name dispatched RND transporter family member 3
Synonyms G630052C06Rik, Ptchd2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02510
Quality Score
Status
Chromosome 4
Chromosomal Location 148324721-148372422 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 148337158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 886 (H886Y)
Ref Sequence ENSEMBL: ENSMUSP00000038490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047720]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000047720
AA Change: H886Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: H886Y

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 G A 1: 171,078,959 (GRCm39) S193N probably benign Het
Arrdc1 C A 2: 24,825,112 (GRCm39) V16F probably damaging Het
Bhmt1b A G 18: 87,775,653 (GRCm39) Q392R probably benign Het
Bsx A T 9: 40,785,517 (GRCm39) Q15L possibly damaging Het
Casp8ap2 A G 4: 32,639,704 (GRCm39) T253A probably benign Het
Cdkl3 T C 11: 51,902,097 (GRCm39) L102P probably damaging Het
Cgnl1 G T 9: 71,632,639 (GRCm39) N237K probably benign Het
Cldn14 T A 16: 93,716,844 (GRCm39) M1L probably damaging Het
Col1a2 C T 6: 4,516,398 (GRCm39) R171C unknown Het
Col7a1 C A 9: 108,802,299 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dhrs2 G A 14: 55,473,532 (GRCm39) V64M probably damaging Het
Dst G A 1: 34,268,332 (GRCm39) probably null Het
Fnbp4 T C 2: 90,581,819 (GRCm39) V215A probably benign Het
Fzd9 A G 5: 135,278,469 (GRCm39) L472P probably damaging Het
Hpd C T 5: 123,319,973 (GRCm39) R15Q possibly damaging Het
Htra2 A G 6: 83,028,592 (GRCm39) V412A probably damaging Het
Ift80 A G 3: 68,805,876 (GRCm39) F722S probably benign Het
Kcnq2 T C 2: 180,723,154 (GRCm39) T741A probably benign Het
Kl A C 5: 150,912,466 (GRCm39) E738D probably damaging Het
Klra4 T A 6: 130,036,506 (GRCm39) I178L probably damaging Het
Klra9 T C 6: 130,168,185 (GRCm39) E27G probably benign Het
Kntc1 T C 5: 123,957,125 (GRCm39) Y2145H probably benign Het
Mbd5 T A 2: 49,147,041 (GRCm39) M417K probably benign Het
Med31 C T 11: 72,102,882 (GRCm39) M75I probably benign Het
Mpeg1 A T 19: 12,438,788 (GRCm39) D82V probably damaging Het
Msto1 A G 3: 88,817,652 (GRCm39) Y439H probably damaging Het
Or1e17 G A 11: 73,831,831 (GRCm39) G253E probably damaging Het
Or1j15 T C 2: 36,458,693 (GRCm39) S28P possibly damaging Het
Or2av9 T C 11: 58,381,365 (GRCm39) Y72C probably damaging Het
Or5p64 T A 7: 107,855,348 (GRCm39) probably benign Het
Prtg G A 9: 72,798,151 (GRCm39) V706M probably damaging Het
Sfxn2 G T 19: 46,576,711 (GRCm39) A186S probably benign Het
Slc12a5 A T 2: 164,824,728 (GRCm39) probably benign Het
Slc7a3 T C X: 100,126,439 (GRCm39) E222G probably benign Het
Stox1 A T 10: 62,499,826 (GRCm39) H911Q probably benign Het
Sult3a2 A T 10: 33,642,435 (GRCm39) N289K probably benign Het
Supt20 A G 3: 54,622,945 (GRCm39) probably benign Het
Tchh A G 3: 93,351,385 (GRCm39) E275G unknown Het
Tectb A T 19: 55,179,943 (GRCm39) N263I probably damaging Het
Tsga10 C T 1: 37,800,066 (GRCm39) R608Q possibly damaging Het
Ttyh3 A G 5: 140,615,219 (GRCm39) Y390H probably damaging Het
Utf1 C A 7: 139,523,929 (GRCm39) S48* probably null Het
Zfp358 G A 8: 3,546,786 (GRCm39) G456D probably benign Het
Zup1 A G 10: 33,806,150 (GRCm39) probably null 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
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
R7211:Disp3 UTSW 4 148,325,979 (GRCm39) missense probably damaging 0.98
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
Posted On 2015-04-16