Incidental Mutation 'R8153:Ptchd4'
ID633166
Institutional Source Beutler Lab
Gene Symbol Ptchd4
Ensembl Gene ENSMUSG00000042256
Gene Namepatched domain containing 4
Synonyms3110082D06Rik
MMRRC Submission
Accession Numbers

Ncbi RefSeq: NM_028474.1; MGI: 1920485

Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #R8153 (G1)
Quality Score225.009
Status Not validated
Chromosome17
Chromosomal Location42315947-42507741 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 42503896 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 896 (D896G)
Ref Sequence ENSEMBL: ENSMUSP00000047640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048691]
Predicted Effect probably benign
Transcript: ENSMUST00000048691
AA Change: D896G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: D896G

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
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,625,733 S287T probably benign Het
Abca15 T C 7: 120,400,589 S1429P probably damaging Het
Arfgef2 GTGTGCAGAAACT GT 2: 166,834,463 probably null Het
C1qb A G 4: 136,880,566 V162A possibly damaging Het
Cachd1 G T 4: 100,988,638 probably null Het
Cfap61 T C 2: 146,200,784 I1159T probably benign Het
Csf1 T A 3: 107,748,704 D337V probably damaging Het
Ddhd2 T A 8: 25,750,789 T251S probably benign Het
Dnah5 A G 15: 28,384,430 T3107A probably damaging Het
Dnph1 T C 17: 46,499,039 V169A probably benign Het
Ebf2 T C 14: 67,390,465 V303A probably damaging Het
Enpp3 A G 10: 24,809,879 F206S probably damaging Het
Fam151b G T 13: 92,477,902 T26K probably damaging Het
Fga T C 3: 83,030,857 S180P probably damaging Het
Fpr-rs3 A G 17: 20,624,423 L152P probably damaging Het
Gen1 C A 12: 11,260,947 G95W probably damaging Het
Ggta1 T A 2: 35,423,321 T3S possibly damaging Het
Gm4884 T A 7: 41,043,158 C184S probably benign Het
Gm5580 A T 6: 116,552,007 I282F probably damaging Het
Gpr137b T C 13: 13,359,406 Y355C probably damaging Het
Gsx2 T C 5: 75,077,055 S223P probably damaging Het
Hnf4g C T 3: 3,634,190 probably benign Het
Iqub A C 6: 24,450,790 Y603* probably null Het
Klhl22 A G 16: 17,792,550 N555S probably damaging Het
Lama5 T C 2: 180,187,931 D1928G probably benign Het
Lamb2 C T 9: 108,480,646 R123W probably damaging Het
Lamc2 CATCAGCTA CA 1: 153,124,104 probably null Het
Lgr4 T A 2: 110,000,300 F255I probably damaging Het
Lnx2 T C 5: 147,028,096 N439S probably benign Het
Lztr1 G T 16: 17,518,575 probably null Het
Nfkb2 G T 19: 46,308,016 R241L probably damaging Het
Nrcam T C 12: 44,584,972 F1103L probably benign Het
Olfr123 A G 17: 37,795,476 I11V probably benign Het
Olfr181 A G 16: 58,925,786 S262P possibly damaging Het
Olfr924 A G 9: 38,848,335 I74V possibly damaging Het
Olfr965 A G 9: 39,719,658 M144V possibly damaging Het
Otof C A 5: 30,388,735 A425S probably damaging Het
Parg T A 14: 32,262,820 L774H probably damaging Het
Pcnx C T 12: 81,918,819 R59* probably null Het
Pcnx4 T A 12: 72,556,243 F426L probably benign Het
Pde5a T G 3: 122,852,576 S805R probably benign Het
Pde5a T A 3: 122,852,578 M806K probably damaging Het
Plekhh1 T C 12: 79,079,038 S1283P probably benign Het
Ppp1r12a A G 10: 108,162,442 K15E probably damaging Het
Prkdc A T 16: 15,664,244 M384L probably damaging Het
Rsf1 GGC GGCTACGGCCGC 7: 97,579,906 probably benign Het
Slmap T C 14: 26,533,333 S65G probably benign Het
Snta1 C A 2: 154,380,802 L298F probably damaging Het
Soga3 G T 10: 29,148,239 E384* probably null Het
Sphkap T G 1: 83,278,009 N673T possibly damaging Het
St8sia5 T G 18: 77,253,111 probably null Het
Tgm6 T C 2: 130,145,055 V481A probably benign Het
Thada T C 17: 84,393,427 N1217S possibly damaging Het
Tia1 C G 6: 86,420,332 H107D probably damaging Het
Ttn A G 2: 76,916,612 Y4698H probably benign Het
Ube3c T C 5: 29,606,931 Y390H possibly damaging Het
Ubqln5 A G 7: 104,128,804 I271T possibly damaging Het
Vmn2r109 A G 17: 20,564,707 V17A probably benign Het
Xkr9 A G 1: 13,684,139 D119G probably benign Het
Zfp236 C T 18: 82,630,027 C1003Y probably damaging Het
Other mutations in Ptchd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Ptchd4 APN 17 42316926 nonsense probably null
IGL01360:Ptchd4 APN 17 42317045 missense probably benign 0.09
IGL01814:Ptchd4 APN 17 42503286 missense possibly damaging 0.84
IGL01885:Ptchd4 APN 17 42503602 missense probably damaging 1.00
IGL01929:Ptchd4 APN 17 42503322 missense probably benign 0.02
IGL02371:Ptchd4 APN 17 42316974 missense possibly damaging 0.83
IGL02480:Ptchd4 APN 17 42502540 missense probably benign 0.38
IGL02507:Ptchd4 APN 17 42316873 missense possibly damaging 0.72
IGL02593:Ptchd4 APN 17 42317146 missense probably benign 0.24
IGL02861:Ptchd4 APN 17 42377317 missense probably damaging 1.00
IGL02884:Ptchd4 APN 17 42502449 missense possibly damaging 0.86
IGL03384:Ptchd4 APN 17 42502590 missense probably damaging 1.00
PIT4418001:Ptchd4 UTSW 17 42503089 missense probably damaging 1.00
R0030:Ptchd4 UTSW 17 42317108 nonsense probably null
R0243:Ptchd4 UTSW 17 42503416 missense probably damaging 1.00
R0398:Ptchd4 UTSW 17 42377259 missense possibly damaging 0.95
R0513:Ptchd4 UTSW 17 42503746 missense probably benign 0.14
R0630:Ptchd4 UTSW 17 42377185 missense probably benign 0.17
R0662:Ptchd4 UTSW 17 42502576 missense probably damaging 1.00
R1004:Ptchd4 UTSW 17 42377602 missense probably benign 0.00
R1433:Ptchd4 UTSW 17 42503715 missense possibly damaging 0.75
R1451:Ptchd4 UTSW 17 42502918 missense probably damaging 0.99
R1522:Ptchd4 UTSW 17 42503542 missense probably damaging 1.00
R1901:Ptchd4 UTSW 17 42503616 missense probably benign 0.10
R1902:Ptchd4 UTSW 17 42503616 missense probably benign 0.10
R2135:Ptchd4 UTSW 17 42317074 missense probably benign 0.01
R3935:Ptchd4 UTSW 17 42503489 missense possibly damaging 0.80
R4184:Ptchd4 UTSW 17 42502759 missense probably damaging 0.99
R4552:Ptchd4 UTSW 17 42502455 missense probably benign 0.00
R4573:Ptchd4 UTSW 17 42502777 missense probably benign 0.26
R5100:Ptchd4 UTSW 17 42503676 missense possibly damaging 0.59
R5640:Ptchd4 UTSW 17 42503135 missense possibly damaging 0.73
R6213:Ptchd4 UTSW 17 42377360 missense probably benign 0.00
R6704:Ptchd4 UTSW 17 42317040 missense probably benign 0.00
R7011:Ptchd4 UTSW 17 42503868 missense probably benign 0.19
R7017:Ptchd4 UTSW 17 42502735 missense probably damaging 1.00
R7185:Ptchd4 UTSW 17 42503188 missense probably damaging 1.00
R8112:Ptchd4 UTSW 17 42503175 missense probably benign 0.25
R8220:Ptchd4 UTSW 17 42502663 missense probably benign 0.00
X0062:Ptchd4 UTSW 17 42377464 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CACACTGTTCAAATGCTTGCTG -3'
(R):5'- CTCTCATGGAGCACAAGGTTG -3'

Sequencing Primer
(F):5'- AAATGCTTGCTGCTGACCG -3'
(R):5'- AGGTTGTAAAGAACTTCACCTCC -3'
Posted On2020-06-30