Incidental Mutation 'R7547:Ptch2'
ID 584251
Institutional Source Beutler Lab
Gene Symbol Ptch2
Ensembl Gene ENSMUSG00000028681
Gene Name patched 2
Synonyms ptc2
MMRRC Submission 045618-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7547 (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 G at 116967161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 646 (L646R)
Ref Sequence ENSEMBL: ENSMUSP00000030443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030443] [ENSMUST00000144620]
AlphaFold O35595
Predicted Effect probably damaging
Transcript: ENSMUST00000030443
AA Change: L646R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030443
Gene: ENSMUSG00000028681
AA Change: L646R

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 benign
Transcript: ENSMUST00000137209
SMART Domains Protein: ENSMUSP00000114461
Gene: ENSMUSG00000028681

DomainStartEndE-ValueType
low complexity region 75 86 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144620
SMART Domains Protein: ENSMUSP00000122548
Gene: ENSMUSG00000028681

DomainStartEndE-ValueType
low complexity region 58 77 N/A INTRINSIC
low complexity region 251 262 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,109,269 (GRCm39) D146E probably benign Het
Adgrl1 C T 8: 84,665,513 (GRCm39) A1400V probably benign Het
Ank2 A G 3: 126,738,852 (GRCm39) V2344A unknown Het
Anxa2r2 A T 13: 120,488,457 (GRCm39) F31I probably damaging Het
Aplnr A T 2: 84,967,521 (GRCm39) D182V probably damaging Het
Asb4 C T 6: 5,398,350 (GRCm39) P105L probably damaging Het
Ate1 C A 7: 130,106,539 (GRCm39) R274I probably benign Het
Ccdc43 A G 11: 102,582,948 (GRCm39) V92A probably benign Het
Cfap69 T A 5: 5,654,290 (GRCm39) N548I possibly damaging Het
Clpb A G 7: 101,313,503 (GRCm39) probably null Het
Ctnnal1 G A 4: 56,817,032 (GRCm39) R597C probably damaging Het
Dchs2 A G 3: 83,263,434 (GRCm39) K3234R probably damaging Het
Dnah7a T A 1: 53,702,996 (GRCm39) K151N probably benign Het
Dnah7b T A 1: 46,253,573 (GRCm39) I1826K possibly damaging Het
Dnttip1 A G 2: 164,609,799 (GRCm39) K289E probably benign Het
Eppk1 G T 15: 75,991,740 (GRCm39) Q1714K probably benign Het
Exoc4 A G 6: 33,816,056 (GRCm39) D674G possibly damaging Het
Galnt7 A T 8: 58,036,996 (GRCm39) V131D possibly damaging Het
Glg1 C T 8: 111,914,393 (GRCm39) V464M possibly damaging Het
Hlcs G T 16: 94,032,031 (GRCm39) S444* probably null Het
Larp1 G T 11: 57,943,405 (GRCm39) probably null Het
Macf1 T C 4: 123,335,410 (GRCm39) Y4386C probably damaging Het
Mapt A G 11: 104,213,138 (GRCm39) probably null Het
Neb C T 2: 52,172,637 (GRCm39) V1557I probably benign Het
Nid2 A G 14: 19,847,345 (GRCm39) T953A probably benign Het
Or5b105 T C 19: 13,080,407 (GRCm39) D87G not run Het
Pax3 G A 1: 78,099,231 (GRCm39) Q319* probably null Het
Ppp2r1b T A 9: 50,773,762 (GRCm39) S212R probably benign Het
Prss29 T C 17: 25,539,896 (GRCm39) L98P probably damaging Het
Rasa2 T A 9: 96,493,474 (GRCm39) E70V probably damaging Het
Serf2 A G 2: 121,281,256 (GRCm39) N65S possibly damaging Het
Serpinb6b G A 13: 33,158,907 (GRCm39) G155D probably benign Het
Serpinb6c A G 13: 34,077,875 (GRCm39) I165T possibly damaging Het
Skint5 A T 4: 113,483,785 (GRCm39) V949E unknown Het
Slc11a2 A G 15: 100,295,651 (GRCm39) I490T possibly damaging Het
Slx4 T C 16: 3,803,436 (GRCm39) D1126G probably benign Het
Tent4a G T 13: 69,681,823 (GRCm39) P160Q probably benign Het
Tln1 G T 4: 43,545,206 (GRCm39) A1003E possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Trav21-dv12 T C 14: 54,114,072 (GRCm39) V64A probably damaging Het
U2surp T C 9: 95,361,402 (GRCm39) E620G possibly damaging Het
Usp3 T C 9: 66,449,906 (GRCm39) N179S possibly damaging Het
Vps13d T C 4: 144,784,108 (GRCm39) T3889A Het
Vps35 C T 8: 85,989,999 (GRCm39) V670M probably damaging Het
Zfp626 T C 7: 27,517,828 (GRCm39) S270P possibly damaging Het
Zfp955a C T 17: 33,461,797 (GRCm39) V112M probably benign Het
Zranb2 T C 3: 157,246,806 (GRCm39) S165P 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
R6155:Ptch2 UTSW 4 116,954,105 (GRCm39) missense probably damaging 1.00
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
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'- CGCTCAGGTCATTCAGATGC -3'
(R):5'- TCTGCCCTTCTTGGAACAGAC -3'

Sequencing Primer
(F):5'- AGGTCATTCAGATGCTGCCC -3'
(R):5'- CCTTCTTGGAACAGACAGACTGAG -3'
Posted On 2019-10-17