Incidental Mutation 'IGL02884:Ptchd4'
ID 362922
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptchd4
Ensembl Gene ENSMUSG00000042256
Gene Name patched domain containing 4
Synonyms 3110082D06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # IGL02884
Quality Score
Status
Chromosome 17
Chromosomal Location 42626838-42815968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 42813340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 414 (T414S)
Ref Sequence ENSEMBL: ENSMUSP00000047640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048691]
AlphaFold B9EKX1
Predicted Effect possibly damaging
Transcript: ENSMUST00000048691
AA Change: T414S

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: T414S

DomainStartEndE-ValueType
Pfam:Patched 58 867 6.1e-102 PFAM
Pfam:Sterol-sensing 312 464 2.9e-26 PFAM
low complexity region 869 891 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,178,302 (GRCm39) I121V probably benign Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Akap11 A T 14: 78,736,402 (GRCm39) M1797K probably benign Het
Akap6 T A 12: 52,933,405 (GRCm39) I299N probably benign Het
Akr1c12 A T 13: 4,322,211 (GRCm39) M277K possibly damaging Het
Ankrd17 A T 5: 90,412,616 (GRCm39) M1236K probably damaging Het
Arhgef11 A G 3: 87,635,313 (GRCm39) D874G probably damaging Het
Atg4b T C 1: 93,715,437 (GRCm39) probably benign Het
Bcl9 G A 3: 97,117,368 (GRCm39) P442L probably damaging Het
Ccdc107 A T 4: 43,495,228 (GRCm39) K98* probably null Het
Cenpl A G 1: 160,913,619 (GRCm39) Q343R probably benign Het
Cep104 T C 4: 154,074,319 (GRCm39) C524R probably damaging Het
Clec3b C T 9: 122,985,827 (GRCm39) T75I probably benign Het
Col13a1 A T 10: 61,741,064 (GRCm39) probably benign Het
Crot C T 5: 9,028,197 (GRCm39) probably null Het
Ddo G A 10: 40,513,360 (GRCm39) V101I probably benign Het
Disp2 T C 2: 118,618,032 (GRCm39) probably benign Het
Dnmt3b A C 2: 153,516,297 (GRCm39) Y474S probably damaging Het
Dpp6 T A 5: 27,839,554 (GRCm39) N298K possibly damaging Het
Fbf1 C T 11: 116,037,339 (GRCm39) E940K probably damaging Het
Fgd6 A G 10: 93,881,501 (GRCm39) probably benign Het
H2-M10.2 T C 17: 36,595,568 (GRCm39) R241G probably damaging Het
Haghl A T 17: 26,002,072 (GRCm39) F207Y possibly damaging Het
Helt G A 8: 46,745,620 (GRCm39) R88C probably damaging Het
Igf2bp2 T C 16: 21,981,635 (GRCm39) K27E probably benign Het
Il1b T C 2: 129,207,022 (GRCm39) H246R probably benign Het
Itprid1 T C 6: 55,851,339 (GRCm39) probably null Het
Kcnu1 C T 8: 26,411,556 (GRCm39) S167L probably damaging Het
Kif16b A T 2: 142,544,534 (GRCm39) probably benign Het
Myh7 A T 14: 55,230,276 (GRCm39) S19T probably benign Het
Ncaph2 T C 15: 89,248,447 (GRCm39) probably null Het
Nlrp4c T C 7: 6,101,951 (GRCm39) L879P probably damaging Het
Nqo2 T A 13: 34,156,344 (GRCm39) N19K probably damaging Het
Or2r2 C T 6: 42,463,540 (GRCm39) V196M probably damaging Het
Osbpl1a C A 18: 12,952,635 (GRCm39) G93* probably null Het
Pdxdc1 A G 16: 13,661,659 (GRCm39) F459L possibly damaging Het
Phc2 A T 4: 128,601,809 (GRCm39) H88L probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Rab7b A G 1: 131,626,280 (GRCm39) R103G probably damaging Het
Retnla A G 16: 48,662,943 (GRCm39) Y3C probably benign Het
Samd7 G A 3: 30,810,322 (GRCm39) R113H probably damaging Het
Shisa9 G A 16: 11,814,907 (GRCm39) probably benign Het
Soat1 A T 1: 156,268,926 (GRCm39) I208N possibly damaging Het
Stab1 C A 14: 30,872,100 (GRCm39) probably null Het
Tti2 C T 8: 31,641,505 (GRCm39) L210F possibly damaging Het
Ube2v2 A G 16: 15,374,349 (GRCm39) V77A probably benign Het
Ubr5 T C 15: 37,998,620 (GRCm39) E1617G probably damaging Het
Vmn2r16 T A 5: 109,508,757 (GRCm39) I495K possibly damaging Het
Vwce G T 19: 10,623,943 (GRCm39) R278L possibly damaging Het
Wdr26 C T 1: 181,010,349 (GRCm39) A551T probably damaging Het
Wee1 A G 7: 109,725,269 (GRCm39) I304V probably benign Het
Xrcc5 C T 1: 72,385,396 (GRCm39) H496Y possibly damaging Het
Zfp142 G T 1: 74,611,142 (GRCm39) S884R probably damaging Het
Other mutations in Ptchd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Ptchd4 APN 17 42,627,817 (GRCm39) nonsense probably null
IGL01360:Ptchd4 APN 17 42,627,936 (GRCm39) missense probably benign 0.09
IGL01814:Ptchd4 APN 17 42,814,177 (GRCm39) missense possibly damaging 0.84
IGL01885:Ptchd4 APN 17 42,814,493 (GRCm39) missense probably damaging 1.00
IGL01929:Ptchd4 APN 17 42,814,213 (GRCm39) missense probably benign 0.02
IGL02371:Ptchd4 APN 17 42,627,865 (GRCm39) missense possibly damaging 0.83
IGL02480:Ptchd4 APN 17 42,813,431 (GRCm39) missense probably benign 0.38
IGL02507:Ptchd4 APN 17 42,627,764 (GRCm39) missense possibly damaging 0.72
IGL02593:Ptchd4 APN 17 42,628,037 (GRCm39) missense probably benign 0.24
IGL02861:Ptchd4 APN 17 42,688,208 (GRCm39) missense probably damaging 1.00
IGL03384:Ptchd4 APN 17 42,813,481 (GRCm39) missense probably damaging 1.00
PIT4418001:Ptchd4 UTSW 17 42,813,980 (GRCm39) missense probably damaging 1.00
R0030:Ptchd4 UTSW 17 42,627,999 (GRCm39) nonsense probably null
R0243:Ptchd4 UTSW 17 42,814,307 (GRCm39) missense probably damaging 1.00
R0398:Ptchd4 UTSW 17 42,688,150 (GRCm39) missense possibly damaging 0.95
R0513:Ptchd4 UTSW 17 42,814,637 (GRCm39) missense probably benign 0.14
R0630:Ptchd4 UTSW 17 42,688,076 (GRCm39) missense probably benign 0.17
R0662:Ptchd4 UTSW 17 42,813,467 (GRCm39) missense probably damaging 1.00
R1004:Ptchd4 UTSW 17 42,688,493 (GRCm39) missense probably benign 0.00
R1433:Ptchd4 UTSW 17 42,814,606 (GRCm39) missense possibly damaging 0.75
R1451:Ptchd4 UTSW 17 42,813,809 (GRCm39) missense probably damaging 0.99
R1522:Ptchd4 UTSW 17 42,814,433 (GRCm39) missense probably damaging 1.00
R1901:Ptchd4 UTSW 17 42,814,507 (GRCm39) missense probably benign 0.10
R1902:Ptchd4 UTSW 17 42,814,507 (GRCm39) missense probably benign 0.10
R2135:Ptchd4 UTSW 17 42,627,965 (GRCm39) missense probably benign 0.01
R3935:Ptchd4 UTSW 17 42,814,380 (GRCm39) missense possibly damaging 0.80
R4184:Ptchd4 UTSW 17 42,813,650 (GRCm39) missense probably damaging 0.99
R4552:Ptchd4 UTSW 17 42,813,346 (GRCm39) missense probably benign 0.00
R4573:Ptchd4 UTSW 17 42,813,668 (GRCm39) missense probably benign 0.26
R5100:Ptchd4 UTSW 17 42,814,567 (GRCm39) missense possibly damaging 0.59
R5640:Ptchd4 UTSW 17 42,814,026 (GRCm39) missense possibly damaging 0.73
R6213:Ptchd4 UTSW 17 42,688,251 (GRCm39) missense probably benign 0.00
R6704:Ptchd4 UTSW 17 42,627,931 (GRCm39) missense probably benign 0.00
R7011:Ptchd4 UTSW 17 42,814,759 (GRCm39) missense probably benign 0.19
R7017:Ptchd4 UTSW 17 42,813,626 (GRCm39) missense probably damaging 1.00
R7185:Ptchd4 UTSW 17 42,814,079 (GRCm39) missense probably damaging 1.00
R8112:Ptchd4 UTSW 17 42,814,066 (GRCm39) missense probably benign 0.25
R8153:Ptchd4 UTSW 17 42,814,787 (GRCm39) missense probably benign 0.31
R8220:Ptchd4 UTSW 17 42,813,554 (GRCm39) missense probably benign 0.00
R8547:Ptchd4 UTSW 17 42,813,512 (GRCm39) missense probably benign 0.01
R9072:Ptchd4 UTSW 17 42,813,650 (GRCm39) missense probably damaging 0.99
R9073:Ptchd4 UTSW 17 42,813,650 (GRCm39) missense probably damaging 0.99
R9205:Ptchd4 UTSW 17 42,814,276 (GRCm39) missense probably benign 0.00
R9242:Ptchd4 UTSW 17 42,627,604 (GRCm39) nonsense probably null
R9687:Ptchd4 UTSW 17 42,813,467 (GRCm39) missense probably damaging 1.00
R9706:Ptchd4 UTSW 17 42,814,806 (GRCm39) makesense probably null
R9718:Ptchd4 UTSW 17 42,813,641 (GRCm39) missense probably damaging 0.99
X0062:Ptchd4 UTSW 17 42,688,355 (GRCm39) missense probably damaging 0.98
Posted On 2015-12-18