Incidental Mutation 'R6155:Ptch2'
ID 489508
Institutional Source Beutler Lab
Gene Symbol Ptch2
Ensembl Gene ENSMUSG00000028681
Gene Name patched 2
Synonyms ptc2
MMRRC Submission 044302-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6155 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 116953272-116973298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116954105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 45 (F45Y)
Ref Sequence ENSEMBL: ENSMUSP00000122548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030443] [ENSMUST00000144620]
AlphaFold O35595
Predicted Effect probably benign
Transcript: ENSMUST00000030443
AA Change: F45Y

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030443
Gene: ENSMUSG00000028681
AA Change: F45Y

DomainStartEndE-ValueType
low complexity region 58 77 N/A INTRINSIC
low complexity region 251 262 N/A INTRINSIC
Pfam:Patched 338 831 1.6e-42 PFAM
Pfam:Sterol-sensing 418 570 9.5e-49 PFAM
Pfam:Patched 901 1116 2e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000144620
AA Change: F45Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122548
Gene: ENSMUSG00000028681
AA Change: F45Y

DomainStartEndE-ValueType
low complexity region 58 77 N/A INTRINSIC
low complexity region 251 262 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the patched family of transmembrane receptor proteins. The encoded protein may be a functional receptor for the morphogen sonic hedgehog (Shh) and is reportedly involved in limb and skin development. Homozygous mutant mice for this gene exhibit hair loss and epidermal hyperplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Male mice homozygous for a targeted gene disruption display anemia, abnormal red blood cells, enlarged spleens, extramedullary hematopoiesis, and an increased percentage of neutrophils. Most male mice homozygous for another allele display alopecia and skin lesions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T C 5: 105,111,510 (GRCm39) Y319C probably benign Het
Actn4 A C 7: 28,595,566 (GRCm39) I763S probably damaging Het
Actr8 G A 14: 29,700,546 (GRCm39) probably null Het
Adrb1 T C 19: 56,711,336 (GRCm39) L178P probably damaging Het
Afap1 A G 5: 36,092,953 (GRCm39) Y19C unknown Het
Ankrd36 A G 11: 5,637,442 (GRCm39) E1337G probably benign Het
Arl4a A C 12: 40,086,519 (GRCm39) V76G probably damaging Het
Bmp1 A T 14: 70,745,447 (GRCm39) I246K probably damaging Het
Camk4 A T 18: 33,072,500 (GRCm39) T18S unknown Het
Cep152 T C 2: 125,423,620 (GRCm39) H927R probably benign Het
Clca3a2 A G 3: 144,525,118 (GRCm39) I38T probably damaging Het
Clec2g A C 6: 128,957,236 (GRCm39) T54P probably damaging Het
Cox20 A G 1: 178,149,362 (GRCm39) E31G possibly damaging Het
Crispld1 T A 1: 17,823,241 (GRCm39) H407Q probably benign Het
Csmd1 T C 8: 15,953,231 (GRCm39) I3417V probably benign Het
Dhtkd1 A C 2: 5,915,170 (GRCm39) H700Q probably null Het
Dnah10 G A 5: 124,847,663 (GRCm39) V1516M probably damaging Het
Dnah10 A G 5: 124,862,239 (GRCm39) T2165A probably damaging Het
Dock2 C G 11: 34,244,123 (GRCm39) M1072I probably benign Het
F11 T A 8: 45,705,119 (GRCm39) T141S probably damaging Het
Gabra6 T A 11: 42,207,350 (GRCm39) I245F probably damaging Het
H2-T5 G A 17: 36,478,399 (GRCm39) A211V possibly damaging Het
Herc1 T A 9: 66,340,705 (GRCm39) C1685S possibly damaging Het
Iftap A T 2: 101,406,355 (GRCm39) probably null Het
Il20 G T 1: 130,838,477 (GRCm39) D73E probably damaging Het
Ireb2 C A 9: 54,793,811 (GRCm39) P247Q probably damaging Het
Kcng3 T C 17: 83,895,807 (GRCm39) I220V probably benign Het
Lce1j T G 3: 92,696,379 (GRCm39) Q133P unknown Het
Lgals9 C T 11: 78,854,331 (GRCm39) A287T probably benign Het
Lrrc52 A G 1: 167,294,296 (GRCm39) probably benign Het
Map3k5 A T 10: 19,994,187 (GRCm39) H1027L probably benign Het
Morc3 A G 16: 93,659,313 (GRCm39) D407G possibly damaging Het
Myom1 T C 17: 71,415,690 (GRCm39) probably null Het
Ncapg2 T C 12: 116,401,631 (GRCm39) F673S possibly damaging Het
Ncoa6 T C 2: 155,249,368 (GRCm39) D1312G probably damaging Het
Nkx1-1 A T 5: 33,588,395 (GRCm39) F298I probably damaging Het
Npas2 G A 1: 39,326,557 (GRCm39) R14Q probably damaging Het
Npas4 C T 19: 5,036,898 (GRCm39) C422Y probably damaging Het
Or11h4 T C 14: 50,974,076 (GRCm39) D181G probably benign Het
Or2y11 T A 11: 49,443,411 (GRCm39) I279N possibly damaging Het
Or4c123 A G 2: 89,126,765 (GRCm39) L283S probably damaging Het
Or5p4 T C 7: 107,680,493 (GRCm39) V164A probably benign Het
Pcdhga4 T C 18: 37,819,546 (GRCm39) I365T probably damaging Het
Pear1 T A 3: 87,666,875 (GRCm39) T37S probably damaging Het
Pkn2 A T 3: 142,559,454 (GRCm39) F24I probably benign Het
Plcb3 G A 19: 6,943,533 (GRCm39) A122V probably damaging Het
Pnliprp1 T C 19: 58,718,565 (GRCm39) probably null Het
Pramel28 T A 4: 143,691,712 (GRCm39) H337L probably benign Het
Psmb3 T A 11: 97,603,278 (GRCm39) F164I probably damaging Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Pusl1 A G 4: 155,975,005 (GRCm39) S199P probably damaging Het
Rasgrp2 C A 19: 6,452,531 (GRCm39) L35I probably damaging Het
Rictor T C 15: 6,823,458 (GRCm39) L1545P probably benign Het
Rtn4r A T 16: 17,969,258 (GRCm39) M229L probably benign Het
Ruvbl1 A T 6: 88,456,107 (GRCm39) probably null Het
Slc35b3 A T 13: 39,128,572 (GRCm39) S30T probably damaging Het
Sorcs3 T C 19: 48,387,136 (GRCm39) V207A possibly damaging Het
Sox13 A G 1: 133,321,005 (GRCm39) S2P probably damaging Het
Sptbn1 A C 11: 30,087,403 (GRCm39) L999R probably damaging Het
Taf4 A G 2: 179,555,317 (GRCm39) V1015A probably damaging Het
Top3b T C 16: 16,709,373 (GRCm39) L687P probably damaging Het
Tpp2 T A 1: 43,995,649 (GRCm39) V268E probably damaging Het
Ttc6 T C 12: 57,784,402 (GRCm39) Y1824H possibly damaging Het
Txk A G 5: 72,858,069 (GRCm39) Y360H probably damaging Het
Vmn2r57 T C 7: 41,078,114 (GRCm39) I115V probably benign Het
Vmn2r98 T C 17: 19,286,143 (GRCm39) S214P possibly damaging Het
Zbtb48 T C 4: 152,106,495 (GRCm39) probably null Het
Zzz3 A G 3: 152,133,319 (GRCm39) I126V possibly damaging Het
Other mutations in Ptch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Ptch2 APN 4 116,971,279 (GRCm39) missense probably damaging 1.00
IGL01684:Ptch2 APN 4 116,961,984 (GRCm39) missense probably damaging 1.00
IGL01967:Ptch2 APN 4 116,971,430 (GRCm39) splice site probably benign
IGL02449:Ptch2 APN 4 116,965,380 (GRCm39) missense possibly damaging 0.79
IGL02488:Ptch2 APN 4 116,967,593 (GRCm39) missense probably damaging 0.99
IGL02935:Ptch2 APN 4 116,971,967 (GRCm39) missense probably damaging 1.00
R0103:Ptch2 UTSW 4 116,966,622 (GRCm39) splice site probably benign
R0326:Ptch2 UTSW 4 116,966,081 (GRCm39) missense probably damaging 1.00
R0403:Ptch2 UTSW 4 116,968,036 (GRCm39) nonsense probably null
R0499:Ptch2 UTSW 4 116,968,340 (GRCm39) nonsense probably null
R0550:Ptch2 UTSW 4 116,953,630 (GRCm39) splice site probably benign
R0565:Ptch2 UTSW 4 116,963,340 (GRCm39) splice site probably benign
R1469:Ptch2 UTSW 4 116,965,662 (GRCm39) missense probably benign
R1469:Ptch2 UTSW 4 116,965,662 (GRCm39) missense probably benign
R1484:Ptch2 UTSW 4 116,968,046 (GRCm39) missense probably damaging 0.97
R1920:Ptch2 UTSW 4 116,965,858 (GRCm39) missense probably benign 0.09
R4080:Ptch2 UTSW 4 116,968,403 (GRCm39) missense probably damaging 1.00
R4611:Ptch2 UTSW 4 116,967,575 (GRCm39) missense probably benign 0.24
R5117:Ptch2 UTSW 4 116,963,146 (GRCm39) missense probably damaging 1.00
R5240:Ptch2 UTSW 4 116,963,335 (GRCm39) splice site probably benign
R5936:Ptch2 UTSW 4 116,965,491 (GRCm39) missense probably benign 0.39
R5987:Ptch2 UTSW 4 116,967,254 (GRCm39) missense probably benign 0.13
R7158:Ptch2 UTSW 4 116,971,981 (GRCm39) missense possibly damaging 0.76
R7196:Ptch2 UTSW 4 116,971,946 (GRCm39) missense probably benign 0.23
R7346:Ptch2 UTSW 4 116,971,849 (GRCm39) missense probably benign 0.40
R7380:Ptch2 UTSW 4 116,971,843 (GRCm39) missense possibly damaging 0.92
R7547:Ptch2 UTSW 4 116,967,161 (GRCm39) missense probably damaging 1.00
R7600:Ptch2 UTSW 4 116,953,422 (GRCm39) start gained probably benign
R7731:Ptch2 UTSW 4 116,965,492 (GRCm39) missense probably benign 0.09
R7836:Ptch2 UTSW 4 116,962,224 (GRCm39) splice site probably null
R7874:Ptch2 UTSW 4 116,963,161 (GRCm39) missense possibly damaging 0.83
R7881:Ptch2 UTSW 4 116,967,585 (GRCm39) missense probably benign
R7942:Ptch2 UTSW 4 116,963,198 (GRCm39) missense probably benign 0.01
R8426:Ptch2 UTSW 4 116,965,369 (GRCm39) missense possibly damaging 0.84
R8715:Ptch2 UTSW 4 116,968,719 (GRCm39) missense probably damaging 0.98
R8759:Ptch2 UTSW 4 116,967,630 (GRCm39) missense probably damaging 0.99
R9082:Ptch2 UTSW 4 116,962,297 (GRCm39) critical splice donor site probably null
R9276:Ptch2 UTSW 4 116,967,505 (GRCm39) missense probably damaging 0.97
R9336:Ptch2 UTSW 4 116,966,776 (GRCm39) missense possibly damaging 0.89
R9336:Ptch2 UTSW 4 116,954,197 (GRCm39) missense probably damaging 1.00
R9368:Ptch2 UTSW 4 116,961,969 (GRCm39) missense probably damaging 0.98
X0019:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0024:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0025:Ptch2 UTSW 4 116,954,183 (GRCm39) missense probably damaging 1.00
X0035:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0038:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0039:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0040:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0052:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0053:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0054:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
X0061:Ptch2 UTSW 4 116,967,064 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- TGCTTATGGAGAAGGCACAG -3'
(R):5'- TTGACCAAAGCAGCTACGGC -3'

Sequencing Primer
(F):5'- CAGGGAAAGAGAGTTAAATCTTCCAC -3'
(R):5'- GGCCAGCTCCAGTAACTC -3'
Posted On 2017-10-10