Incidental Mutation 'R5117:Ptch2'
| ID |
392668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptch2
|
| Ensembl Gene |
ENSMUSG00000028681 |
| Gene Name |
patched 2 |
| Synonyms |
ptc2 |
| MMRRC Submission |
042705-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116953272-116973298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116963146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 211
(I211N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030443]
[ENSMUST00000144620]
|
| AlphaFold |
O35595 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030443
AA Change: I211N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030443
Gene: ENSMUSG00000028681
AA Change: I211N
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000135133
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137209
AA Change: I34N
|
| SMART Domains |
Protein: ENSMUSP00000114461
Gene: ENSMUSG00000028681
AA Change: I34N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144620
AA Change: I211N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122548
Gene: ENSMUSG00000028681
AA Change: I211N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156989
|
| Meta Mutation Damage Score |
0.6308 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (67/67) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
G |
A |
9: 124,055,715 (GRCm39) |
T403I |
probably benign |
Het |
| 4921509C19Rik |
T |
C |
2: 151,314,460 (GRCm39) |
E406G |
probably benign |
Het |
| Abca8b |
T |
C |
11: 109,857,629 (GRCm39) |
E641G |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,270,010 (GRCm39) |
N49S |
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,622,340 (GRCm39) |
S215P |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,323,329 (GRCm39) |
I1292F |
probably damaging |
Het |
| Card14 |
T |
A |
11: 119,229,076 (GRCm39) |
I662N |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,779,276 (GRCm39) |
K762R |
probably benign |
Het |
| Ces1b |
A |
G |
8: 93,799,837 (GRCm39) |
|
probably null |
Het |
| Erich6 |
T |
G |
3: 58,530,626 (GRCm39) |
I448L |
probably benign |
Het |
| Fads3 |
T |
G |
19: 10,019,322 (GRCm39) |
|
probably null |
Het |
| Fam234a |
A |
G |
17: 26,432,512 (GRCm39) |
F546L |
probably benign |
Het |
| Fbxl9 |
T |
A |
8: 106,039,492 (GRCm39) |
R595* |
probably null |
Het |
| Gm10717 |
T |
C |
9: 3,025,625 (GRCm39) |
L70S |
probably benign |
Het |
| Gm11787 |
G |
T |
4: 3,509,524 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5519 |
A |
G |
19: 33,802,471 (GRCm39) |
*171W |
probably null |
Het |
| Grid2 |
T |
C |
6: 63,233,917 (GRCm39) |
I26T |
probably benign |
Het |
| Hmcn2 |
T |
G |
2: 31,348,061 (GRCm39) |
C4902W |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,661,698 (GRCm39) |
N106S |
possibly damaging |
Het |
| Il18 |
A |
T |
9: 50,492,809 (GRCm39) |
N125I |
possibly damaging |
Het |
| Ints9 |
G |
T |
14: 65,230,540 (GRCm39) |
E156* |
probably null |
Het |
| Kalrn |
T |
C |
16: 33,853,971 (GRCm39) |
|
probably null |
Het |
| Klkb1 |
A |
T |
8: 45,742,149 (GRCm39) |
D43E |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,536,952 (GRCm39) |
M256K |
probably benign |
Het |
| Mapk6 |
C |
A |
9: 75,305,017 (GRCm39) |
M133I |
possibly damaging |
Het |
| Med21 |
T |
A |
6: 146,548,781 (GRCm39) |
|
probably benign |
Het |
| Myrf |
T |
A |
19: 10,189,857 (GRCm39) |
E984V |
probably damaging |
Het |
| Naga |
A |
C |
15: 82,221,657 (GRCm39) |
M28R |
probably damaging |
Het |
| Nphp4 |
T |
G |
4: 152,608,689 (GRCm39) |
|
probably null |
Het |
| Nr1h4 |
T |
C |
10: 89,314,284 (GRCm39) |
N295D |
probably damaging |
Het |
| Or10j27 |
T |
C |
1: 172,958,484 (GRCm39) |
Q100R |
possibly damaging |
Het |
| Or13n4 |
A |
T |
7: 106,422,869 (GRCm39) |
I288N |
probably damaging |
Het |
| Or55b3 |
T |
C |
7: 102,126,709 (GRCm39) |
M123V |
probably damaging |
Het |
| Parp9 |
C |
A |
16: 35,792,202 (GRCm39) |
|
probably null |
Het |
| Pax4 |
T |
C |
6: 28,446,278 (GRCm39) |
I72V |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,879,090 (GRCm39) |
I542V |
probably benign |
Het |
| Pcdhgb7 |
C |
T |
18: 37,885,939 (GRCm39) |
R370W |
probably damaging |
Het |
| Pik3r1 |
G |
A |
13: 101,828,744 (GRCm39) |
T18I |
probably benign |
Het |
| Ppara |
A |
G |
15: 85,661,962 (GRCm39) |
I68V |
probably benign |
Het |
| Senp6 |
G |
A |
9: 80,038,028 (GRCm39) |
V715M |
probably damaging |
Het |
| Serf2 |
C |
T |
2: 121,281,184 (GRCm39) |
P41L |
possibly damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
| Serpinf2 |
T |
C |
11: 75,323,326 (GRCm39) |
D460G |
probably benign |
Het |
| Sh3d21 |
T |
C |
4: 126,045,665 (GRCm39) |
E338G |
probably damaging |
Het |
| Slc7a11 |
T |
C |
3: 50,333,599 (GRCm39) |
D384G |
probably damaging |
Het |
| Snx15 |
A |
G |
19: 6,174,181 (GRCm39) |
|
probably null |
Het |
| Supt16 |
A |
G |
14: 52,420,549 (GRCm39) |
F84L |
probably damaging |
Het |
| Tamalin |
A |
G |
15: 101,128,418 (GRCm39) |
D152G |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,668,121 (GRCm39) |
Y881C |
probably damaging |
Het |
| Tm9sf2 |
C |
A |
14: 122,380,913 (GRCm39) |
Q169K |
probably benign |
Het |
| Trim56 |
A |
T |
5: 137,142,832 (GRCm39) |
V228E |
probably benign |
Het |
| Triqk |
T |
A |
4: 12,980,390 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
T |
A |
9: 119,795,631 (GRCm39) |
I1155N |
possibly damaging |
Het |
| Ube3b |
T |
G |
5: 114,557,692 (GRCm39) |
Y1059D |
probably damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,363,961 (GRCm39) |
T652A |
probably benign |
Het |
| Wdr4 |
A |
G |
17: 31,718,798 (GRCm39) |
V304A |
probably benign |
Het |
| Wwp2 |
T |
C |
8: 108,280,694 (GRCm39) |
S646P |
possibly damaging |
Het |
| Zfand5 |
T |
A |
19: 21,257,009 (GRCm39) |
S130T |
probably benign |
Het |
| Zfp599 |
A |
T |
9: 22,161,396 (GRCm39) |
Y256* |
probably null |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,642,197 (GRCm39) |
I1209L |
possibly damaging |
Het |
|
| Other mutations in Ptch2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- TGTCCAAAGCTCTCGTGTGC -3'
(R):5'- TTCTTGGCAGACCTGTCCAG -3'
Sequencing Primer
(F):5'- AAGCTCTCGTGTGCGGGTG -3'
(R):5'- AACCCACCTGCCTGCTGTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation