Incidental Mutation 'R4730:Ptprg'
| ID |
358785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprg
|
| Ensembl Gene |
ENSMUSG00000021745 |
| Gene Name |
protein tyrosine phosphatase receptor type G |
| Synonyms |
RPTPgamma, 5430405N12Rik |
| MMRRC Submission |
041990-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4730 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
10227722-10916220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12213713 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 252
(G252D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022264]
[ENSMUST00000119888]
[ENSMUST00000142917]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022264
AA Change: G1027D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022264
Gene: ENSMUSG00000021745
AA Change: G1027D
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
60 |
321 |
6.38e-109 |
SMART |
|
FN3
|
347 |
433 |
5.4e-7 |
SMART |
|
low complexity region
|
474 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
525 |
N/A |
INTRINSIC |
|
coiled coil region
|
581 |
617 |
N/A |
INTRINSIC |
|
transmembrane domain
|
734 |
756 |
N/A |
INTRINSIC |
|
PTPc
|
844 |
1118 |
1.76e-136 |
SMART |
|
PTPc
|
1146 |
1409 |
1.32e-85 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119888
AA Change: G252D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113679
Gene: ENSMUSG00000021745
AA Change: G252D
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
69 |
343 |
1.76e-136 |
SMART |
|
PTPc
|
371 |
634 |
1.32e-85 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142917
|
| SMART Domains |
Protein: ENSMUSP00000121268
Gene: ENSMUSG00000021745
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
60 |
260 |
1.6e-50 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223890
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (70/71) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular region of PTPRBETA/ZETA. This gene is located in a chromosomal region that is frequently deleted in renal cell carcinoma and lung carcinoma, thus is thought to be a candidate tumor suppressor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are overtly normal but exhibit minor behavioral changes including specific motor deficits, reduced latency to react in the tail flick test, enhanced sensory processing for acoustic stimuli, and reduced performance with cued fear conditioning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff1 |
A |
G |
5: 103,990,939 (GRCm39) |
Q963R |
possibly damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,114,650 (GRCm39) |
E645K |
probably benign |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,487,590 (GRCm39) |
N964S |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Duox1 |
T |
G |
2: 122,164,312 (GRCm39) |
L924R |
probably damaging |
Het |
| Edem2 |
T |
C |
2: 155,547,618 (GRCm39) |
E398G |
possibly damaging |
Het |
| Engase |
A |
G |
11: 118,373,748 (GRCm39) |
N297D |
probably damaging |
Het |
| Esp4 |
A |
C |
17: 40,913,445 (GRCm39) |
Y104S |
unknown |
Het |
| Esp4 |
C |
A |
17: 40,913,446 (GRCm39) |
Y104* |
probably null |
Het |
| Fat1 |
A |
T |
8: 45,486,514 (GRCm39) |
N3356I |
probably damaging |
Het |
| Gm3867 |
T |
A |
9: 36,168,550 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6818 |
C |
T |
7: 38,101,918 (GRCm39) |
|
noncoding transcript |
Het |
| Grip2 |
T |
C |
6: 91,762,693 (GRCm39) |
*175W |
probably null |
Het |
| Gucy1b2 |
A |
G |
14: 62,645,208 (GRCm39) |
V617A |
probably damaging |
Het |
| Gzmc |
C |
T |
14: 56,469,089 (GRCm39) |
C210Y |
probably damaging |
Het |
| Hmg20a |
T |
A |
9: 56,374,703 (GRCm39) |
S20T |
possibly damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,772,148 (GRCm39) |
L165* |
probably null |
Het |
| Ighv1-26 |
A |
G |
12: 114,752,409 (GRCm39) |
I6T |
probably benign |
Het |
| Kcnk13 |
A |
G |
12: 100,027,974 (GRCm39) |
K350E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,493,416 (GRCm39) |
L198* |
probably null |
Het |
| Lrfn5 |
C |
T |
12: 61,887,505 (GRCm39) |
A431V |
probably benign |
Het |
| Lta |
C |
T |
17: 35,423,065 (GRCm39) |
R86Q |
probably benign |
Het |
| Map3k4 |
T |
A |
17: 12,467,861 (GRCm39) |
I1058L |
probably damaging |
Het |
| Mtif2 |
T |
A |
11: 29,490,834 (GRCm39) |
S513T |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,570,032 (GRCm39) |
T364I |
possibly damaging |
Het |
| Nav1 |
C |
A |
1: 135,535,049 (GRCm39) |
|
probably benign |
Het |
| Nfrkb |
T |
C |
9: 31,321,547 (GRCm39) |
V748A |
probably benign |
Het |
| Obox6 |
A |
T |
7: 15,568,738 (GRCm39) |
M46K |
possibly damaging |
Het |
| Or5g25 |
T |
C |
2: 85,478,336 (GRCm39) |
T110A |
probably benign |
Het |
| Or5k1b |
T |
C |
16: 58,581,105 (GRCm39) |
I145V |
probably benign |
Het |
| Or5t17 |
C |
T |
2: 86,832,510 (GRCm39) |
R66W |
possibly damaging |
Het |
| Or6c33 |
G |
A |
10: 129,853,416 (GRCm39) |
R62Q |
probably damaging |
Het |
| Or9g19 |
G |
T |
2: 85,600,405 (GRCm39) |
E87* |
probably null |
Het |
| P4htm |
A |
G |
9: 108,456,971 (GRCm39) |
V412A |
possibly damaging |
Het |
| Phb2 |
T |
C |
6: 124,690,086 (GRCm39) |
S92P |
probably damaging |
Het |
| Phtf1 |
G |
T |
3: 103,894,751 (GRCm39) |
R147L |
probably damaging |
Het |
| Pigk |
C |
T |
3: 152,448,203 (GRCm39) |
Q189* |
probably null |
Het |
| Plxnc1 |
G |
A |
10: 94,703,330 (GRCm39) |
|
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,140,182 (GRCm39) |
V8A |
probably benign |
Het |
| Rnf4 |
G |
T |
5: 34,508,147 (GRCm39) |
V134F |
possibly damaging |
Het |
| Scarf2 |
A |
G |
16: 17,620,877 (GRCm39) |
T182A |
probably damaging |
Het |
| Setd1a |
A |
G |
7: 127,396,502 (GRCm39) |
|
probably benign |
Het |
| Sgpp1 |
A |
G |
12: 75,781,713 (GRCm39) |
F209L |
probably benign |
Het |
| Sh3d19 |
T |
A |
3: 86,024,171 (GRCm39) |
S567T |
possibly damaging |
Het |
| Slc4a2 |
C |
T |
5: 24,639,878 (GRCm39) |
R520W |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,194,751 (GRCm39) |
Q858R |
probably damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,956,852 (GRCm39) |
A640E |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,608,073 (GRCm39) |
Y44C |
probably damaging |
Het |
| Spon1 |
A |
G |
7: 113,632,306 (GRCm39) |
E543G |
possibly damaging |
Het |
| Strn4 |
A |
G |
7: 16,562,719 (GRCm39) |
Q286R |
possibly damaging |
Het |
| Suz12 |
T |
C |
11: 79,892,988 (GRCm39) |
|
probably benign |
Het |
| Syna |
T |
A |
5: 134,587,440 (GRCm39) |
E503V |
probably damaging |
Het |
| Syt14 |
C |
T |
1: 192,613,094 (GRCm39) |
D569N |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,030,457 (GRCm39) |
|
probably benign |
Het |
| Tmprss11g |
G |
T |
5: 86,637,091 (GRCm39) |
S335* |
probably null |
Het |
| Tmprss11g |
A |
T |
5: 86,637,092 (GRCm39) |
S335T |
probably damaging |
Het |
| Trim66 |
A |
G |
7: 109,082,276 (GRCm39) |
S226P |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,707,654 (GRCm39) |
T112A |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 121,092,791 (GRCm39) |
S149G |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,756,582 (GRCm39) |
D108G |
probably null |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,695 (GRCm39) |
T205S |
possibly damaging |
Het |
|
| Other mutations in Ptprg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Ptprg
|
APN |
14 |
12,215,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00484:Ptprg
|
APN |
14 |
12,215,220 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00847:Ptprg
|
APN |
14 |
12,215,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01089:Ptprg
|
APN |
14 |
12,215,286 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01382:Ptprg
|
APN |
14 |
12,237,797 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL01470:Ptprg
|
APN |
14 |
12,213,702 (GRCm38) |
nonsense |
probably null |
|
|
IGL01762:Ptprg
|
APN |
14 |
12,037,386 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01886:Ptprg
|
APN |
14 |
12,179,280 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL01963:Ptprg
|
APN |
14 |
12,220,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02015:Ptprg
|
APN |
14 |
12,237,782 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL02086:Ptprg
|
APN |
14 |
12,110,080 (GRCm38) |
nonsense |
probably null |
|
|
IGL02197:Ptprg
|
APN |
14 |
12,220,613 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02341:Ptprg
|
APN |
14 |
12,154,360 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02732:Ptprg
|
APN |
14 |
12,225,617 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03011:Ptprg
|
APN |
14 |
12,219,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03261:Ptprg
|
APN |
14 |
12,225,552 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0038:Ptprg
|
UTSW |
14 |
12,213,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0383:Ptprg
|
UTSW |
14 |
12,219,024 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0433:Ptprg
|
UTSW |
14 |
12,220,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0488:Ptprg
|
UTSW |
14 |
12,220,653 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0503:Ptprg
|
UTSW |
14 |
12,237,138 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0520:Ptprg
|
UTSW |
14 |
12,199,783 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0570:Ptprg
|
UTSW |
14 |
12,215,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0606:Ptprg
|
UTSW |
14 |
12,154,131 (GRCm38) |
missense |
probably benign |
|
|
R1086:Ptprg
|
UTSW |
14 |
11,952,706 (GRCm38) |
splice site |
probably benign |
|
|
R1468:Ptprg
|
UTSW |
14 |
12,190,767 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1468:Ptprg
|
UTSW |
14 |
12,190,767 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1519:Ptprg
|
UTSW |
14 |
12,220,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1662:Ptprg
|
UTSW |
14 |
12,207,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1714:Ptprg
|
UTSW |
14 |
12,213,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1716:Ptprg
|
UTSW |
14 |
12,154,360 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1797:Ptprg
|
UTSW |
14 |
12,199,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1803:Ptprg
|
UTSW |
14 |
12,091,410 (GRCm38) |
splice site |
probably null |
|
|
R2104:Ptprg
|
UTSW |
14 |
11,952,897 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2125:Ptprg
|
UTSW |
14 |
12,179,283 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R2126:Ptprg
|
UTSW |
14 |
12,154,355 (GRCm38) |
missense |
probably benign |
|
|
R2133:Ptprg
|
UTSW |
14 |
12,211,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2471:Ptprg
|
UTSW |
14 |
12,210,327 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2571:Ptprg
|
UTSW |
14 |
12,122,135 (GRCm38) |
missense |
probably benign |
|
|
R3821:Ptprg
|
UTSW |
14 |
12,226,375 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4196:Ptprg
|
UTSW |
14 |
12,122,002 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R4392:Ptprg
|
UTSW |
14 |
12,142,467 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4665:Ptprg
|
UTSW |
14 |
12,215,288 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4737:Ptprg
|
UTSW |
14 |
12,226,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4764:Ptprg
|
UTSW |
14 |
12,122,068 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4801:Ptprg
|
UTSW |
14 |
11,554,233 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R4825:Ptprg
|
UTSW |
14 |
12,220,654 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4960:Ptprg
|
UTSW |
14 |
12,237,837 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4972:Ptprg
|
UTSW |
14 |
12,226,427 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4980:Ptprg
|
UTSW |
14 |
12,154,421 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5004:Ptprg
|
UTSW |
14 |
12,220,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5058:Ptprg
|
UTSW |
14 |
12,037,387 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5182:Ptprg
|
UTSW |
14 |
12,154,174 (GRCm38) |
missense |
probably benign |
|
|
R5258:Ptprg
|
UTSW |
14 |
12,142,431 (GRCm38) |
missense |
probably benign |
0.11 |
|
R5338:Ptprg
|
UTSW |
14 |
12,154,111 (GRCm38) |
missense |
probably benign |
|
|
R5353:Ptprg
|
UTSW |
14 |
11,554,235 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R5373:Ptprg
|
UTSW |
14 |
12,213,665 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5387:Ptprg
|
UTSW |
14 |
12,153,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5616:Ptprg
|
UTSW |
14 |
12,122,120 (GRCm38) |
missense |
probably benign |
|
|
R5623:Ptprg
|
UTSW |
14 |
12,153,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5976:Ptprg
|
UTSW |
14 |
12,211,625 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6027:Ptprg
|
UTSW |
14 |
12,220,613 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6091:Ptprg
|
UTSW |
14 |
12,215,979 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6184:Ptprg
|
UTSW |
14 |
12,153,943 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6234:Ptprg
|
UTSW |
14 |
12,213,747 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6318:Ptprg
|
UTSW |
14 |
12,237,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6324:Ptprg
|
UTSW |
14 |
12,226,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6334:Ptprg
|
UTSW |
14 |
12,166,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6646:Ptprg
|
UTSW |
14 |
11,962,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6647:Ptprg
|
UTSW |
14 |
11,962,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6992:Ptprg
|
UTSW |
14 |
11,962,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7088:Ptprg
|
UTSW |
14 |
12,207,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7250:Ptprg
|
UTSW |
14 |
12,166,767 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7342:Ptprg
|
UTSW |
14 |
12,237,151 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7358:Ptprg
|
UTSW |
14 |
12,154,198 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R7410:Ptprg
|
UTSW |
14 |
11,962,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7448:Ptprg
|
UTSW |
14 |
12,142,461 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7514:Ptprg
|
UTSW |
14 |
12,179,342 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7523:Ptprg
|
UTSW |
14 |
12,237,130 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7672:Ptprg
|
UTSW |
14 |
12,211,668 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7709:Ptprg
|
UTSW |
14 |
12,226,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7720:Ptprg
|
UTSW |
14 |
12,211,703 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8860:Ptprg
|
UTSW |
14 |
12,213,685 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8992:Ptprg
|
UTSW |
14 |
12,154,170 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9054:Ptprg
|
UTSW |
14 |
12,213,638 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R9587:Ptprg
|
UTSW |
14 |
12,215,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9621:Ptprg
|
UTSW |
14 |
12,237,809 (GRCm38) |
missense |
probably benign |
|
|
R9625:Ptprg
|
UTSW |
14 |
12,152,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9773:Ptprg
|
UTSW |
14 |
12,199,806 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0020:Ptprg
|
UTSW |
14 |
12,110,070 (GRCm38) |
frame shift |
probably null |
|
|
X0027:Ptprg
|
UTSW |
14 |
12,110,070 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATGAGATCCAAGGTTGTTTCC -3'
(R):5'- AGTTCTTCATAAGTGCACCAAGC -3'
Sequencing Primer
(F):5'- AGATCCAAGGTTGTTTCCTGAGAC -3'
(R):5'- ACTTGAGCCACGGGAACTATCTG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation