Incidental Mutation 'R0550:Ptch2'
ID 45075
Institutional Source Beutler Lab
Gene Symbol Ptch2
Ensembl Gene ENSMUSG00000028681
Gene Name patched 2
Synonyms ptc2
MMRRC Submission 038742-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0550 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 116953272-116973298 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 116953630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030443] [ENSMUST00000144620]
AlphaFold O35595
Predicted Effect probably benign
Transcript: ENSMUST00000030443
SMART Domains Protein: ENSMUSP00000030443
Gene: ENSMUSG00000028681

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: 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: 99.6%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 99% (76/77)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,184,666 (GRCm39) Y947N probably damaging Het
Acss3 C A 10: 106,889,332 (GRCm39) G163C probably damaging Het
Adcy10 A G 1: 165,392,884 (GRCm39) T1367A probably benign Het
Adcy2 A T 13: 69,130,480 (GRCm39) S136T probably benign Het
Ahdc1 G A 4: 132,790,348 (GRCm39) V530I probably benign Het
Aldh16a1 C T 7: 44,795,653 (GRCm39) probably null Het
Ankrd36 T C 11: 5,557,429 (GRCm39) probably null Het
Aqr A C 2: 113,963,457 (GRCm39) N664K probably damaging Het
Atp6v1c1 T C 15: 38,683,173 (GRCm39) probably benign Het
Atp8b2 C T 3: 89,866,368 (GRCm39) probably benign Het
Bbx T C 16: 50,094,896 (GRCm39) probably benign Het
Bmper T A 9: 23,285,181 (GRCm39) D243E probably benign Het
Casz1 GCCACCACCACCACCACCACCAC GCCACCACCACCACCACCAC 4: 149,036,741 (GRCm39) probably benign Het
Catsperd T C 17: 56,970,427 (GRCm39) probably null Het
Ccdc92b T A 11: 74,520,771 (GRCm39) probably null Het
Cd2bp2 G T 7: 126,792,996 (GRCm39) T342K probably damaging Het
Clrn3 T A 7: 135,130,154 (GRCm39) I27F possibly damaging Het
Cnih3 TTGACGAG T 1: 181,234,042 (GRCm39) probably null Het
Cntnap3 T C 13: 64,909,814 (GRCm39) T764A possibly damaging Het
Cttnbp2 T G 6: 18,435,308 (GRCm39) K183N possibly damaging Het
Cwc27 G A 13: 104,941,457 (GRCm39) P155L probably damaging Het
Dcaf10 T C 4: 45,372,753 (GRCm39) S389P probably benign Het
Ddx18 T C 1: 121,483,104 (GRCm39) K561E probably benign Het
Dkk3 A G 7: 111,757,452 (GRCm39) F51L probably damaging Het
Dnai1 C T 4: 41,596,274 (GRCm39) R20* probably null Het
Dr1 G A 5: 108,417,471 (GRCm39) G6S probably benign Het
Dync2h1 A T 9: 7,120,954 (GRCm39) probably null Het
Eif3l A G 15: 78,961,067 (GRCm39) Y16C probably damaging Het
Epb41 A G 4: 131,702,924 (GRCm39) I464T probably damaging Het
Erc2 A G 14: 27,993,608 (GRCm39) K546E possibly damaging Het
F830045P16Rik T C 2: 129,305,429 (GRCm39) D315G probably damaging Het
Fads6 A G 11: 115,187,503 (GRCm39) I64T probably benign Het
Fshr T C 17: 89,352,553 (GRCm39) N107S probably benign Het
Gbp11 A T 5: 105,491,616 (GRCm39) N60K probably benign Het
Gm2a C T 11: 54,994,491 (GRCm39) Q54* probably null Het
Hydin A G 8: 111,314,407 (GRCm39) D4297G probably benign Het
Il6st G A 13: 112,611,648 (GRCm39) probably null Het
Inpp4b T A 8: 82,723,966 (GRCm39) H499Q probably benign Het
Kif5c A G 2: 49,648,924 (GRCm39) K956R possibly damaging Het
Krt74 G A 15: 101,669,114 (GRCm39) noncoding transcript Het
Map3k9 A T 12: 81,772,555 (GRCm39) L649Q probably damaging Het
Mdn1 A G 4: 32,730,479 (GRCm39) D2871G probably benign Het
Mylk4 T C 13: 32,900,649 (GRCm39) T294A probably benign Het
Nbeal2 C T 9: 110,471,226 (GRCm39) V252I probably benign Het
Nectin3 A G 16: 46,279,183 (GRCm39) I265T possibly damaging Het
Opn1sw A T 6: 29,380,203 (GRCm39) L71Q probably damaging Het
Or4c12 A G 2: 89,773,733 (GRCm39) I242T probably damaging Het
Or52m1 G A 7: 102,290,157 (GRCm39) E235K possibly damaging Het
Or5aq6 G T 2: 86,923,473 (GRCm39) H89Q probably benign Het
Or5b97 A T 19: 12,879,164 (GRCm39) probably null Het
Or5k17 A G 16: 58,746,748 (GRCm39) F62S probably damaging Het
Or8b46 T A 9: 38,450,676 (GRCm39) C162S probably damaging Het
Or8k27 A T 2: 86,276,220 (GRCm39) Y35* probably null Het
Pced1a G A 2: 130,261,553 (GRCm39) P367S probably benign Het
Pkhd1 A T 1: 20,417,447 (GRCm39) M2568K probably null Het
Pla2r1 A G 2: 60,255,694 (GRCm39) probably null Het
Plpp1 T C 13: 112,971,519 (GRCm39) I62T probably benign Het
Polr3g G A 13: 81,842,892 (GRCm39) T41I probably damaging Het
Sema4g A T 19: 44,986,104 (GRCm39) H315L probably benign Het
Setd1b G T 5: 123,295,723 (GRCm39) S1097I unknown Het
Sfxn4 A G 19: 60,839,383 (GRCm39) probably benign Het
Sh3tc1 T C 5: 35,857,128 (GRCm39) E1237G probably damaging Het
Slc25a38 A T 9: 119,952,709 (GRCm39) N287I probably benign Het
Slc25a48 A G 13: 56,596,811 (GRCm39) T31A probably benign Het
Slc6a12 G A 6: 121,333,877 (GRCm39) V238I probably damaging Het
Slc8b1 A G 5: 120,669,220 (GRCm39) probably benign Het
Slco4c1 A C 1: 96,795,584 (GRCm39) V158G probably damaging Het
Sptbn4 T C 7: 27,063,803 (GRCm39) T2208A probably benign Het
Srebf1 G A 11: 60,092,502 (GRCm39) T843I probably benign Het
Srl A G 16: 4,305,429 (GRCm39) W101R probably damaging Het
St6galnac4 T A 2: 32,484,031 (GRCm39) C76* probably null Het
Tdrd3 C A 14: 87,723,656 (GRCm39) T290K probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trpm3 A G 19: 22,965,176 (GRCm39) E1547G probably damaging Het
Ubn1 A G 16: 4,880,484 (GRCm39) probably null Het
Usp10 T A 8: 120,674,540 (GRCm39) I456K probably damaging Het
Usp6nl A G 2: 6,405,134 (GRCm39) probably benign Het
Vit T A 17: 78,932,222 (GRCm39) V443E possibly damaging Het
Whamm G A 7: 81,235,972 (GRCm39) V392I possibly damaging Het
Zfhx4 A G 3: 5,465,554 (GRCm39) K1904R probably damaging Het
Zfp352 A T 4: 90,112,927 (GRCm39) T356S probably 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
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'- AGATCCACAGTCGCCACCTTTAGC -3'
(R):5'- GTGCCTTCTCCATAAGCACACCTG -3'

Sequencing Primer
(F):5'- TTCACGGCAGCTAGGAATC -3'
(R):5'- ACACACTCGTTGTCAGCTAGG -3'
Posted On 2013-06-11