Incidental Mutation 'R7237:Ptprn2'
| ID |
562923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprn2
|
| Ensembl Gene |
ENSMUSG00000056553 |
| Gene Name |
protein tyrosine phosphatase, receptor type, N polypeptide 2 |
| Synonyms |
phogrin, 4930425H11Rik, IA-2 beta, PTP-NP, IA-2beta |
| MMRRC Submission |
045344-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R7237 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116485720-117276849 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117161727 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 627
(H627R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
| AlphaFold |
P80560 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070733
AA Change: H627R
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: H627R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
RESP18
|
58 |
157 |
1.9e-40 |
SMART |
|
low complexity region
|
393 |
426 |
N/A |
INTRINSIC |
|
Pfam:Receptor_IA-2
|
495 |
583 |
1.5e-35 |
PFAM |
|
low complexity region
|
687 |
707 |
N/A |
INTRINSIC |
|
PTPc
|
730 |
993 |
4.42e-119 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190247
AA Change: H627R
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: H627R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
RESP18
|
58 |
157 |
1.9e-40 |
SMART |
|
low complexity region
|
393 |
426 |
N/A |
INTRINSIC |
|
Pfam:Receptor_IA-2
|
494 |
584 |
2.5e-43 |
PFAM |
|
transmembrane domain
|
602 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
707 |
N/A |
INTRINSIC |
|
PTPc
|
730 |
932 |
8.81e-64 |
SMART |
|
| Meta Mutation Damage Score |
0.2087 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (83/85) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
A |
T |
2: 20,849,972 (GRCm38) |
C1536* |
probably null |
Het |
| Armc9 |
C |
A |
1: 86,164,849 (GRCm38) |
Q169K |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,477,929 (GRCm38) |
M1518K |
possibly damaging |
Het |
| AU018091 |
A |
G |
7: 3,159,166 (GRCm38) |
I360T |
probably benign |
Het |
| BB014433 |
C |
A |
8: 15,041,765 (GRCm38) |
V363L |
probably benign |
Het |
| Bcam |
T |
C |
7: 19,769,307 (GRCm38) |
|
probably null |
Het |
| Cacna1g |
T |
C |
11: 94,437,879 (GRCm38) |
S1071G |
probably benign |
Het |
| Card9 |
A |
T |
2: 26,356,775 (GRCm38) |
S354T |
probably benign |
Het |
| Ccdc87 |
A |
G |
19: 4,839,762 (GRCm38) |
N94S |
probably benign |
Het |
| Cdc27 |
A |
G |
11: 104,517,419 (GRCm38) |
V555A |
probably benign |
Het |
| Coro1a |
T |
A |
7: 126,700,306 (GRCm38) |
D411V |
probably benign |
Het |
| Cybrd1 |
GGTCCTGCAC |
G |
2: 71,118,209 (GRCm38) |
|
probably benign |
Het |
| Cyth1 |
A |
T |
11: 118,185,495 (GRCm38) |
I95N |
probably damaging |
Het |
| Ddx58 |
T |
A |
4: 40,205,938 (GRCm38) |
I885F |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,139,966 (GRCm38) |
E933V |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 6,993,966 (GRCm38) |
I3968N |
probably benign |
Het |
| Fam126b |
G |
A |
1: 58,529,948 (GRCm38) |
Q491* |
probably null |
Het |
| Fam184a |
T |
C |
10: 53,634,393 (GRCm38) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,377,214 (GRCm38) |
L338F |
probably damaging |
Het |
| Fcgr3 |
A |
G |
1: 171,059,301 (GRCm38) |
L18P |
probably damaging |
Het |
| Gbp5 |
T |
C |
3: 142,507,700 (GRCm38) |
V459A |
probably benign |
Het |
| Gja4 |
A |
T |
4: 127,312,163 (GRCm38) |
M269K |
probably benign |
Het |
| Gm4787 |
A |
G |
12: 81,377,668 (GRCm38) |
V572A |
probably damaging |
Het |
| Grin2d |
G |
T |
7: 45,866,176 (GRCm38) |
S131* |
probably null |
Het |
| Gys1 |
A |
G |
7: 45,455,162 (GRCm38) |
D671G |
probably benign |
Het |
| Haspin |
T |
C |
11: 73,136,886 (GRCm38) |
N459S |
probably benign |
Het |
| Hdac10 |
G |
T |
15: 89,125,377 (GRCm38) |
Q451K |
probably benign |
Het |
| Hdac9 |
T |
C |
12: 34,374,140 (GRCm38) |
|
probably null |
Het |
| Hmcn1 |
A |
G |
1: 150,722,643 (GRCm38) |
V1636A |
probably damaging |
Het |
| Hpca |
A |
G |
4: 129,118,614 (GRCm38) |
L43P |
probably damaging |
Het |
| Insm1 |
C |
A |
2: 146,222,528 (GRCm38) |
A88E |
possibly damaging |
Het |
| Itga9 |
A |
G |
9: 118,636,602 (GRCm38) |
K175E |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,809,156 (GRCm38) |
|
probably null |
Het |
| Kif20b |
T |
A |
19: 34,950,605 (GRCm38) |
L1089H |
probably damaging |
Het |
| Lamp5 |
A |
T |
2: 136,059,835 (GRCm38) |
H152L |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,473,183 (GRCm38) |
F76L |
probably benign |
Het |
| Magi3 |
T |
C |
3: 104,027,911 (GRCm38) |
D902G |
probably damaging |
Het |
| Map10 |
C |
T |
8: 125,671,224 (GRCm38) |
P452L |
probably benign |
Het |
| Mapk6 |
A |
G |
9: 75,397,613 (GRCm38) |
L174P |
probably damaging |
Het |
| Ndufa4 |
C |
T |
6: 11,906,019 (GRCm38) |
|
probably null |
Het |
| Nedd4 |
A |
T |
9: 72,725,064 (GRCm38) |
E393D |
probably benign |
Het |
| Nlrp4b |
G |
A |
7: 10,715,216 (GRCm38) |
V449I |
probably benign |
Het |
| Nufip2 |
T |
A |
11: 77,692,770 (GRCm38) |
N503K |
probably benign |
Het |
| Olfr220 |
C |
T |
1: 174,449,339 (GRCm38) |
R239C |
probably benign |
Het |
| Olfr455 |
T |
C |
6: 42,538,647 (GRCm38) |
D125G |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,348,243 (GRCm38) |
T176A |
probably benign |
Het |
| Palm3 |
A |
G |
8: 84,029,488 (GRCm38) |
K543R |
probably benign |
Het |
| Parvg |
G |
A |
15: 84,341,356 (GRCm38) |
A302T |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,584,191 (GRCm38) |
D1227G |
possibly damaging |
Het |
| Pdzd8 |
C |
T |
19: 59,345,139 (GRCm38) |
G150D |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,125,297 (GRCm38) |
|
probably null |
Het |
| Pld5 |
T |
C |
1: 176,274,735 (GRCm38) |
Q47R |
possibly damaging |
Het |
| Ppp2r5d |
T |
C |
17: 46,686,280 (GRCm38) |
S329G |
possibly damaging |
Het |
| Prss56 |
T |
C |
1: 87,184,915 (GRCm38) |
V144A |
probably damaging |
Het |
| Psg28 |
A |
T |
7: 18,427,844 (GRCm38) |
Y245N |
possibly damaging |
Het |
| Ptpn3 |
C |
T |
4: 57,239,625 (GRCm38) |
V302I |
probably damaging |
Het |
| Rasgrp2 |
A |
T |
19: 6,404,808 (GRCm38) |
H226L |
possibly damaging |
Het |
| Rbm20 |
C |
T |
19: 53,851,499 (GRCm38) |
T973M |
probably benign |
Het |
| Riok2 |
T |
A |
17: 17,377,783 (GRCm38) |
L44Q |
probably damaging |
Het |
| Rusc1 |
G |
T |
3: 89,091,498 (GRCm38) |
Q326K |
possibly damaging |
Het |
| Sart3 |
A |
T |
5: 113,754,246 (GRCm38) |
H397Q |
possibly damaging |
Het |
| Sec31b |
T |
A |
19: 44,517,708 (GRCm38) |
T920S |
probably damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,998,949 (GRCm38) |
E225G |
probably damaging |
Het |
| Slc25a47 |
T |
C |
12: 108,855,460 (GRCm38) |
L165P |
probably damaging |
Het |
| Slc2a10 |
G |
A |
2: 165,515,277 (GRCm38) |
V286I |
probably benign |
Het |
| Slc39a13 |
G |
T |
2: 91,065,634 (GRCm38) |
T174N |
probably benign |
Het |
| Slc7a13 |
T |
A |
4: 19,839,364 (GRCm38) |
N322K |
probably benign |
Het |
| Stk38 |
T |
C |
17: 28,974,646 (GRCm38) |
T326A |
possibly damaging |
Het |
| Sult1a1 |
T |
C |
7: 126,673,450 (GRCm38) |
M244V |
probably benign |
Het |
| Tas2r144 |
C |
T |
6: 42,215,866 (GRCm38) |
T180I |
probably damaging |
Het |
| Tbc1d12 |
T |
A |
19: 38,898,902 (GRCm38) |
M366K |
probably benign |
Het |
| Terb1 |
T |
C |
8: 104,495,327 (GRCm38) |
I147V |
possibly damaging |
Het |
| Tldc1 |
C |
T |
8: 119,762,315 (GRCm38) |
G410S |
probably damaging |
Het |
| Tmem5 |
A |
T |
10: 122,081,618 (GRCm38) |
L330* |
probably null |
Het |
| Tnik |
T |
C |
3: 28,638,419 (GRCm38) |
Y820H |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,682,196 (GRCm38) |
L995I |
possibly damaging |
Het |
| Trim34b |
A |
G |
7: 104,329,587 (GRCm38) |
T14A |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,791,166 (GRCm38) |
E418G |
probably damaging |
Het |
| Vmn1r12 |
T |
A |
6: 57,159,565 (GRCm38) |
C216S |
possibly damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,703,987 (GRCm38) |
V16E |
possibly damaging |
Het |
| Vps11 |
A |
T |
9: 44,354,506 (GRCm38) |
V492D |
probably damaging |
Het |
| Wdr62 |
A |
C |
7: 30,270,444 (GRCm38) |
|
probably null |
Het |
| Zc3h14 |
T |
A |
12: 98,780,149 (GRCm38) |
M539K |
probably benign |
Het |
| Zfp871 |
A |
T |
17: 32,775,315 (GRCm38) |
H295Q |
probably damaging |
Het |
|
| Other mutations in Ptprn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01695:Ptprn2
|
APN |
12 |
116,841,388 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01788:Ptprn2
|
APN |
12 |
116,900,987 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02172:Ptprn2
|
APN |
12 |
116,873,697 (GRCm38) |
splice site |
probably benign |
|
|
IGL02339:Ptprn2
|
APN |
12 |
116,722,104 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02706:Ptprn2
|
APN |
12 |
116,888,898 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03018:Ptprn2
|
APN |
12 |
117,211,943 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03267:Ptprn2
|
APN |
12 |
116,876,344 (GRCm38) |
nonsense |
probably null |
|
|
BB001:Ptprn2
|
UTSW |
12 |
116,841,264 (GRCm38) |
missense |
probably benign |
0.00 |
|
BB011:Ptprn2
|
UTSW |
12 |
116,841,264 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03014:Ptprn2
|
UTSW |
12 |
117,248,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0066:Ptprn2
|
UTSW |
12 |
117,276,602 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0066:Ptprn2
|
UTSW |
12 |
117,276,602 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0115:Ptprn2
|
UTSW |
12 |
117,211,846 (GRCm38) |
splice site |
probably benign |
|
|
R0131:Ptprn2
|
UTSW |
12 |
116,722,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0131:Ptprn2
|
UTSW |
12 |
116,722,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0132:Ptprn2
|
UTSW |
12 |
116,722,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0481:Ptprn2
|
UTSW |
12 |
117,211,846 (GRCm38) |
splice site |
probably benign |
|
|
R0694:Ptprn2
|
UTSW |
12 |
116,824,355 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0698:Ptprn2
|
UTSW |
12 |
116,722,130 (GRCm38) |
nonsense |
probably null |
|
|
R0746:Ptprn2
|
UTSW |
12 |
116,901,017 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1127:Ptprn2
|
UTSW |
12 |
117,212,008 (GRCm38) |
splice site |
probably null |
|
|
R1443:Ptprn2
|
UTSW |
12 |
117,253,615 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1508:Ptprn2
|
UTSW |
12 |
117,184,722 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1664:Ptprn2
|
UTSW |
12 |
117,161,709 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1670:Ptprn2
|
UTSW |
12 |
116,722,172 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R1749:Ptprn2
|
UTSW |
12 |
116,580,428 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2075:Ptprn2
|
UTSW |
12 |
117,247,717 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3054:Ptprn2
|
UTSW |
12 |
116,722,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3107:Ptprn2
|
UTSW |
12 |
116,876,180 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3109:Ptprn2
|
UTSW |
12 |
116,876,180 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3552:Ptprn2
|
UTSW |
12 |
116,888,877 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4193:Ptprn2
|
UTSW |
12 |
116,901,008 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4523:Ptprn2
|
UTSW |
12 |
116,876,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4706:Ptprn2
|
UTSW |
12 |
116,872,094 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4719:Ptprn2
|
UTSW |
12 |
116,824,396 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4726:Ptprn2
|
UTSW |
12 |
117,247,773 (GRCm38) |
nonsense |
probably null |
|
|
R4872:Ptprn2
|
UTSW |
12 |
117,161,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4891:Ptprn2
|
UTSW |
12 |
117,233,365 (GRCm38) |
splice site |
probably null |
|
|
R4970:Ptprn2
|
UTSW |
12 |
117,276,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5208:Ptprn2
|
UTSW |
12 |
116,858,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5287:Ptprn2
|
UTSW |
12 |
117,211,862 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5419:Ptprn2
|
UTSW |
12 |
117,184,647 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6035:Ptprn2
|
UTSW |
12 |
117,255,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6035:Ptprn2
|
UTSW |
12 |
117,255,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6180:Ptprn2
|
UTSW |
12 |
116,859,119 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6277:Ptprn2
|
UTSW |
12 |
116,876,180 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6465:Ptprn2
|
UTSW |
12 |
117,269,589 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6488:Ptprn2
|
UTSW |
12 |
116,872,038 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6555:Ptprn2
|
UTSW |
12 |
117,227,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6908:Ptprn2
|
UTSW |
12 |
116,888,888 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7120:Ptprn2
|
UTSW |
12 |
116,872,056 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7229:Ptprn2
|
UTSW |
12 |
117,227,225 (GRCm38) |
splice site |
probably null |
|
|
R7304:Ptprn2
|
UTSW |
12 |
117,248,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7355:Ptprn2
|
UTSW |
12 |
116,858,951 (GRCm38) |
missense |
probably benign |
|
|
R7460:Ptprn2
|
UTSW |
12 |
117,248,681 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7577:Ptprn2
|
UTSW |
12 |
116,485,866 (GRCm38) |
start codon destroyed |
probably null |
|
|
R7658:Ptprn2
|
UTSW |
12 |
116,722,119 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7666:Ptprn2
|
UTSW |
12 |
116,841,320 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7924:Ptprn2
|
UTSW |
12 |
116,841,264 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8219:Ptprn2
|
UTSW |
12 |
117,184,737 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8716:Ptprn2
|
UTSW |
12 |
117,255,548 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R9235:Ptprn2
|
UTSW |
12 |
117,269,651 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9605:Ptprn2
|
UTSW |
12 |
117,161,658 (GRCm38) |
missense |
probably benign |
0.13 |
|
X0066:Ptprn2
|
UTSW |
12 |
117,184,740 (GRCm38) |
missense |
probably benign |
0.16 |
|
X0066:Ptprn2
|
UTSW |
12 |
117,161,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGGCTGCACTAAGTCTGG -3'
(R):5'- ACTGTGACTTCATGAGGGAGTATAG -3'
Sequencing Primer
(F):5'- GTCAAGGTCCCCTGAGTAGTAAC -3'
(R):5'- CTTCATGAGGGAGTATAGAGGGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation