Incidental Mutation 'R0326:Ptch2'
ID 25789
Institutional Source Beutler Lab
Gene Symbol Ptch2
Ensembl Gene ENSMUSG00000028681
Gene Name patched 2
Synonyms ptc2
MMRRC Submission 038536-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0326 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 116953272-116973298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 116966081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 467 (G467D)
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: G467D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030443
Gene: ENSMUSG00000028681
AA Change: G467D

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 noncoding transcript
Transcript: ENSMUST00000123226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135133
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156989
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.8%
  • 20x: 91.8%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,670,635 (GRCm39) P286S possibly damaging Het
Aagab T A 9: 63,526,444 (GRCm39) S156T probably damaging Het
Abca14 T G 7: 119,823,642 (GRCm39) Y390D probably damaging Het
Abcc2 T A 19: 43,814,386 (GRCm39) I1122N possibly damaging Het
Adamts16 T C 13: 70,927,730 (GRCm39) E503G possibly damaging Het
Adamts9 A T 6: 92,835,038 (GRCm39) C697* probably null Het
Adgrv1 T C 13: 81,623,112 (GRCm39) D3837G possibly damaging Het
Ahcyl T A 16: 45,974,246 (GRCm39) D377V probably benign Het
Aire T A 10: 77,878,433 (GRCm39) R128S probably damaging Het
Alkbh2 A C 5: 114,262,011 (GRCm39) *240E probably null Het
Als2 T C 1: 59,219,742 (GRCm39) Y1191C probably damaging Het
Anapc5 A T 5: 122,952,667 (GRCm39) V186E probably benign Het
Apob C T 12: 8,040,307 (GRCm39) A548V probably damaging Het
B3galt4 A T 17: 34,169,722 (GRCm39) V172E probably damaging Het
Bbs7 A C 3: 36,646,525 (GRCm39) C432G possibly damaging Het
Cacna2d3 T A 14: 28,767,601 (GRCm39) E758V probably damaging Het
Cactin T G 10: 81,158,496 (GRCm39) L154R probably benign Het
Ccdc88a A C 11: 29,411,021 (GRCm39) R502S probably benign Het
Ccnf A T 17: 24,450,784 (GRCm39) I398N possibly damaging Het
Chd1 A T 17: 15,988,828 (GRCm39) D1527V probably damaging Het
Chd1 A T 17: 15,988,830 (GRCm39) M1528L probably benign Het
Chrac1 G A 15: 72,964,675 (GRCm39) probably null Het
Cln3 T G 7: 126,182,217 (GRCm39) M1L probably damaging Het
Cnot6 T C 11: 49,568,263 (GRCm39) Y442C probably damaging Het
Col19a1 A T 1: 24,324,132 (GRCm39) probably null Het
Col1a2 T C 6: 4,537,838 (GRCm39) F1116L unknown Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cops4 T G 5: 100,676,408 (GRCm39) V53G probably damaging Het
Crnkl1 A G 2: 145,761,875 (GRCm39) S561P probably benign Het
Ctnnb1 C A 9: 120,780,778 (GRCm39) Q99K probably benign Het
Cxcr5 T C 9: 44,424,578 (GRCm39) S360G probably benign Het
Dab2 G A 15: 6,447,797 (GRCm39) V60M probably damaging Het
Ddx3y A T Y: 1,263,321 (GRCm39) Y648* probably null Het
Dennd2a T A 6: 39,474,044 (GRCm39) D430V probably damaging Het
Dsp G T 13: 38,376,846 (GRCm39) E1544* probably null Het
Efcab7 A T 4: 99,719,631 (GRCm39) M38L possibly damaging Het
Fto A G 8: 92,136,155 (GRCm39) N141S probably damaging Het
Gabrp A G 11: 33,504,362 (GRCm39) F318L probably damaging Het
Gmeb1 A C 4: 131,969,663 (GRCm39) C103W probably damaging Het
Heatr9 T C 11: 83,405,365 (GRCm39) D365G probably damaging Het
Hif3a G A 7: 16,778,325 (GRCm39) R436W probably benign Het
Hint2 A G 4: 43,654,378 (GRCm39) V145A probably damaging Het
Hmcn2 T A 2: 31,313,237 (GRCm39) L3482* probably null Het
Hsd3b1 A T 3: 98,760,590 (GRCm39) Y134N probably damaging Het
Impg2 T A 16: 56,080,848 (GRCm39) V775E probably damaging Het
Ipo5 A G 14: 121,159,635 (GRCm39) I154M probably benign Het
Itgad T A 7: 127,797,550 (GRCm39) F893Y probably benign Het
Itprid1 A T 6: 55,875,228 (GRCm39) M393L possibly damaging Het
Kdm4a T C 4: 118,018,903 (GRCm39) R438G probably benign Het
Klk1b11 T A 7: 43,425,943 (GRCm39) M1K probably null Het
Lama5 A T 2: 179,824,219 (GRCm39) V2602D possibly damaging Het
Lrch3 T C 16: 32,799,870 (GRCm39) S35P probably damaging Het
Mfn2 A G 4: 147,967,745 (GRCm39) L441P probably damaging Het
Mgat4c A T 10: 102,224,565 (GRCm39) I260F probably damaging Het
Mon1b T A 8: 114,364,375 (GRCm39) S51T probably benign Het
Myh11 T C 16: 14,036,744 (GRCm39) D993G probably benign Het
Myo1a A G 10: 127,552,166 (GRCm39) N762D probably benign Het
Nacc2 A T 2: 25,950,345 (GRCm39) Y464N probably damaging Het
Nckap1 A G 2: 80,383,714 (GRCm39) I150T probably benign Het
Ndufv2 G T 17: 66,387,816 (GRCm39) P119T probably damaging Het
Noc4l G A 5: 110,800,241 (GRCm39) R95* probably null Het
Ntng1 A T 3: 110,042,819 (GRCm39) Y2* probably null Het
Oog4 T C 4: 143,165,773 (GRCm39) N53D probably benign Het
Or10ak11 A T 4: 118,687,022 (GRCm39) V205D possibly damaging Het
Or4d11 C T 19: 12,013,525 (GRCm39) V194I probably benign Het
Or6c6c A G 10: 129,541,638 (GRCm39) E297G possibly damaging Het
Or9i1b C T 19: 13,896,873 (GRCm39) T163I probably benign Het
Phkg2 T G 7: 127,173,075 (GRCm39) L11R probably damaging Het
Pogz A G 3: 94,777,424 (GRCm39) D368G probably damaging Het
Prex2 T A 1: 11,355,289 (GRCm39) L1530Q probably damaging Het
Prmt1 C T 7: 44,628,878 (GRCm39) E144K probably damaging Het
Prss8 T A 7: 127,526,348 (GRCm39) I121F probably benign Het
Psmd13 T C 7: 140,477,624 (GRCm39) L314P probably damaging Het
Rbm20 C A 19: 53,852,596 (GRCm39) P1192Q probably damaging Het
Rpl19 T A 11: 97,919,200 (GRCm39) D45E probably benign Het
Rsph10b C T 5: 143,903,946 (GRCm39) A219V probably damaging Het
Rtraf C T 14: 19,864,600 (GRCm39) probably null Het
Scaf1 T A 7: 44,658,175 (GRCm39) T235S probably damaging Het
Shank1 T A 7: 43,968,594 (GRCm39) C296S unknown Het
Slc39a7 A T 17: 34,247,924 (GRCm39) V426D probably damaging Het
Slc41a2 A T 10: 83,119,610 (GRCm39) V384D probably damaging Het
Slco1c1 T C 6: 141,505,499 (GRCm39) L475P probably benign Het
Slco6d1 A C 1: 98,418,359 (GRCm39) K515T probably benign Het
Sos2 T C 12: 69,682,459 (GRCm39) E253G probably damaging Het
Sp6 G T 11: 96,912,361 (GRCm39) D25Y possibly damaging Het
Syt11 A C 3: 88,669,855 (GRCm39) D12E possibly damaging Het
Taf2 A G 15: 54,910,856 (GRCm39) L606P probably damaging Het
Tbc1d5 A G 17: 51,273,764 (GRCm39) Y116H probably damaging Het
Tnfrsf8 A G 4: 145,015,029 (GRCm39) I243T possibly damaging Het
Tnxb A G 17: 34,917,153 (GRCm39) S2183G probably benign Het
Trim66 T C 7: 109,059,379 (GRCm39) Y853C probably benign Het
Ttn T A 2: 76,567,839 (GRCm39) T27685S probably damaging Het
Ttn T C 2: 76,573,466 (GRCm39) E25809G probably damaging Het
Uvssa G A 5: 33,566,191 (GRCm39) G445S probably benign Het
Zfp326 T C 5: 106,058,141 (GRCm39) S427P probably damaging Het
Zfp592 A G 7: 80,674,637 (GRCm39) T534A possibly damaging Het
Zfp672 A G 11: 58,207,173 (GRCm39) S383P possibly damaging Het
Zfp799 A G 17: 33,039,700 (GRCm39) S188P possibly damaging Het
Zyg11b A C 4: 108,129,450 (GRCm39) V54G 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
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
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'- GCATCACTTTCAATGCTGCCACTAC -3'
(R):5'- GCATCTGCTGTTCTAAGCACCAGTC -3'

Sequencing Primer
(F):5'- ATGCTGCCACTACACAGG -3'
(R):5'- ggggagaagagaatgctcaac -3'
Posted On 2013-04-16