Incidental Mutation 'R0066:Ptprn2'
ID |
16442 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprn2
|
Ensembl Gene |
ENSMUSG00000056553 |
Gene Name |
protein tyrosine phosphatase receptor type N polypeptide 2 |
Synonyms |
IA-2 beta, PTP-NP, 4930425H11Rik, IA-2beta, phogrin |
MMRRC Submission |
038357-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R0066 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 117240222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 993
(N993T)
|
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: N993T
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000064046 Gene: ENSMUSG00000056553 AA Change: N993T
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 |
noncoding transcript
Transcript: ENSMUST00000186454
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190132
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190247
|
SMART Domains |
Protein: ENSMUSP00000139978 Gene: ENSMUSG00000056553
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 |
0.1426 |
Coding Region Coverage |
- 1x: 89.0%
- 3x: 85.6%
- 10x: 75.4%
- 20x: 57.8%
|
Validation Efficiency |
94% (112/119) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810064F22Rik |
A |
G |
9: 22,119,177 (GRCm39) |
|
noncoding transcript |
Het |
Aco2 |
T |
C |
15: 81,787,666 (GRCm39) |
|
probably benign |
Het |
Arsa |
T |
A |
15: 89,358,539 (GRCm39) |
M288L |
possibly damaging |
Het |
Atg2b |
A |
T |
12: 105,614,708 (GRCm39) |
D1074E |
probably benign |
Het |
Baiap2l1 |
A |
T |
5: 144,221,372 (GRCm39) |
I174N |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,952,962 (GRCm39) |
V199A |
possibly damaging |
Het |
Btn2a2 |
T |
A |
13: 23,662,655 (GRCm39) |
I432L |
probably benign |
Het |
Ccdc150 |
A |
G |
1: 54,395,850 (GRCm39) |
I778V |
probably benign |
Het |
Cd200r2 |
G |
A |
16: 44,730,037 (GRCm39) |
V194I |
possibly damaging |
Het |
Cep350 |
A |
C |
1: 155,786,964 (GRCm39) |
L1421R |
probably damaging |
Het |
Col6a6 |
A |
T |
9: 105,579,412 (GRCm39) |
C1938S |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,795,418 (GRCm39) |
D1051V |
probably damaging |
Het |
Cstf1 |
T |
A |
2: 172,214,976 (GRCm39) |
N32K |
probably benign |
Het |
Ctrb1 |
G |
A |
8: 112,413,269 (GRCm39) |
R248* |
probably null |
Het |
Cyp2d11 |
T |
A |
15: 82,275,958 (GRCm39) |
M208L |
probably benign |
Het |
Dbt |
A |
G |
3: 116,337,478 (GRCm39) |
Q334R |
probably benign |
Het |
Dcaf12 |
A |
G |
4: 41,298,338 (GRCm39) |
V270A |
probably damaging |
Het |
Dis3l |
T |
A |
9: 64,226,447 (GRCm39) |
N361I |
probably benign |
Het |
Dnm3 |
A |
G |
1: 162,234,930 (GRCm39) |
V70A |
probably damaging |
Het |
Dpy19l2 |
G |
A |
9: 24,557,679 (GRCm39) |
|
probably benign |
Het |
Dst |
C |
A |
1: 34,228,634 (GRCm39) |
H2254N |
possibly damaging |
Het |
Eif2b1 |
T |
G |
5: 124,711,858 (GRCm39) |
|
probably null |
Het |
Epm2aip1 |
A |
G |
9: 111,101,531 (GRCm39) |
N168S |
probably benign |
Het |
Fchsd2 |
A |
G |
7: 100,927,631 (GRCm39) |
Y691C |
possibly damaging |
Het |
Fndc8 |
A |
T |
11: 82,788,398 (GRCm39) |
D76V |
probably benign |
Het |
Frmd4a |
T |
C |
2: 4,477,963 (GRCm39) |
L48P |
probably damaging |
Het |
Gimap6 |
T |
A |
6: 48,679,404 (GRCm39) |
I211F |
probably damaging |
Het |
Gm15130 |
A |
G |
2: 110,969,284 (GRCm39) |
|
probably benign |
Het |
Gm19618 |
A |
T |
6: 87,691,227 (GRCm39) |
|
|
Het |
Gpatch1 |
G |
A |
7: 34,986,652 (GRCm39) |
S768L |
probably damaging |
Het |
Grb14 |
T |
G |
2: 64,768,836 (GRCm39) |
|
probably null |
Het |
Hnrnpd |
T |
C |
5: 100,112,560 (GRCm39) |
E222G |
probably damaging |
Het |
Ighv1-4 |
A |
G |
12: 114,450,989 (GRCm39) |
S40P |
possibly damaging |
Het |
Kcnh4 |
T |
C |
11: 100,648,626 (GRCm39) |
H26R |
probably benign |
Het |
Kctd2 |
T |
G |
11: 115,320,343 (GRCm39) |
|
probably benign |
Het |
Macf1 |
G |
A |
4: 123,325,943 (GRCm39) |
Q3066* |
probably null |
Het |
Mfn2 |
G |
A |
4: 147,969,902 (GRCm39) |
|
probably benign |
Het |
Mmab |
T |
C |
5: 114,574,526 (GRCm39) |
|
probably benign |
Het |
Mrc1 |
T |
C |
2: 14,266,011 (GRCm39) |
S310P |
probably benign |
Het |
Mrps21 |
T |
C |
3: 95,770,197 (GRCm39) |
Y44C |
probably null |
Het |
Myh10 |
T |
A |
11: 68,590,317 (GRCm39) |
F121Y |
probably damaging |
Het |
Myo1f |
A |
G |
17: 33,820,677 (GRCm39) |
D840G |
probably damaging |
Het |
Nol6 |
G |
T |
4: 41,119,572 (GRCm39) |
|
probably benign |
Het |
Ntsr2 |
T |
C |
12: 16,704,120 (GRCm39) |
I207T |
probably benign |
Het |
Nwd1 |
T |
A |
8: 73,438,484 (GRCm39) |
S1552T |
probably benign |
Het |
Or11j4 |
T |
A |
14: 50,630,659 (GRCm39) |
F149I |
probably benign |
Het |
Pkd1l3 |
G |
T |
8: 110,347,103 (GRCm39) |
G159C |
unknown |
Het |
Plcb4 |
T |
C |
2: 135,803,689 (GRCm39) |
S521P |
probably benign |
Het |
Plcl1 |
A |
T |
1: 55,752,634 (GRCm39) |
I993F |
probably damaging |
Het |
Plekha7 |
T |
C |
7: 115,756,743 (GRCm39) |
S640G |
probably damaging |
Het |
Reck |
A |
G |
4: 43,930,936 (GRCm39) |
N646D |
probably damaging |
Het |
Rfx2 |
A |
T |
17: 57,093,736 (GRCm39) |
|
probably benign |
Het |
Ripk2 |
G |
A |
4: 16,123,868 (GRCm39) |
Q436* |
probably null |
Het |
Ryr1 |
C |
T |
7: 28,704,992 (GRCm39) |
|
probably benign |
Het |
Sema6b |
A |
G |
17: 56,435,271 (GRCm39) |
V324A |
possibly damaging |
Het |
Sik2 |
C |
A |
9: 50,909,833 (GRCm39) |
M73I |
probably benign |
Het |
Slc39a6 |
T |
C |
18: 24,732,326 (GRCm39) |
K321E |
probably damaging |
Het |
Slc7a4 |
C |
A |
16: 17,391,875 (GRCm39) |
V520F |
probably benign |
Het |
Sptan1 |
C |
A |
2: 29,893,679 (GRCm39) |
|
probably benign |
Het |
Stab1 |
C |
T |
14: 30,879,027 (GRCm39) |
|
probably benign |
Het |
Tbc1d17 |
C |
T |
7: 44,493,495 (GRCm39) |
|
probably benign |
Het |
Tbcd |
T |
A |
11: 121,394,590 (GRCm39) |
L49* |
probably null |
Het |
Tulp4 |
A |
T |
17: 6,252,008 (GRCm39) |
N60I |
probably damaging |
Het |
Ubqlnl |
A |
T |
7: 103,798,145 (GRCm39) |
W451R |
probably damaging |
Het |
Usp53 |
G |
T |
3: 122,746,956 (GRCm39) |
C363* |
probably null |
Het |
Utp4 |
A |
G |
8: 107,649,530 (GRCm39) |
T660A |
possibly damaging |
Het |
Vmn1r194 |
A |
T |
13: 22,428,641 (GRCm39) |
Y86F |
probably benign |
Het |
Vmn1r195 |
A |
T |
13: 22,463,409 (GRCm39) |
H293L |
possibly damaging |
Het |
Vmn1r231 |
T |
C |
17: 21,109,998 (GRCm39) |
R306G |
probably benign |
Het |
Vmn2r77 |
T |
C |
7: 86,449,964 (GRCm39) |
V70A |
probably benign |
Het |
Vps8 |
A |
G |
16: 21,296,273 (GRCm39) |
E515G |
possibly damaging |
Het |
Wdr18 |
C |
A |
10: 79,796,937 (GRCm39) |
Y104* |
probably null |
Het |
Xab2 |
A |
T |
8: 3,663,880 (GRCm39) |
N346K |
probably damaging |
Het |
Zdhhc12 |
C |
T |
2: 29,982,547 (GRCm39) |
R50H |
probably damaging |
Het |
Zdhhc8 |
A |
G |
16: 18,043,064 (GRCm39) |
S379P |
probably benign |
Het |
|
Other mutations in Ptprn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01695:Ptprn2
|
APN |
12 |
116,805,008 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01788:Ptprn2
|
APN |
12 |
116,864,607 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02172:Ptprn2
|
APN |
12 |
116,837,317 (GRCm39) |
splice site |
probably benign |
|
IGL02339:Ptprn2
|
APN |
12 |
116,685,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02706:Ptprn2
|
APN |
12 |
116,852,518 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03018:Ptprn2
|
APN |
12 |
117,175,563 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03267:Ptprn2
|
APN |
12 |
116,839,964 (GRCm39) |
nonsense |
probably null |
|
BB001:Ptprn2
|
UTSW |
12 |
116,804,884 (GRCm39) |
missense |
probably benign |
0.00 |
BB011:Ptprn2
|
UTSW |
12 |
116,804,884 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03014:Ptprn2
|
UTSW |
12 |
117,212,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R0066:Ptprn2
|
UTSW |
12 |
117,240,222 (GRCm39) |
missense |
probably benign |
0.07 |
R0115:Ptprn2
|
UTSW |
12 |
117,175,466 (GRCm39) |
splice site |
probably benign |
|
R0131:Ptprn2
|
UTSW |
12 |
116,685,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Ptprn2
|
UTSW |
12 |
116,685,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R0132:Ptprn2
|
UTSW |
12 |
116,685,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R0481:Ptprn2
|
UTSW |
12 |
117,175,466 (GRCm39) |
splice site |
probably benign |
|
R0694:Ptprn2
|
UTSW |
12 |
116,787,975 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0698:Ptprn2
|
UTSW |
12 |
116,685,750 (GRCm39) |
nonsense |
probably null |
|
R0746:Ptprn2
|
UTSW |
12 |
116,864,637 (GRCm39) |
missense |
probably benign |
0.00 |
R1127:Ptprn2
|
UTSW |
12 |
117,175,628 (GRCm39) |
splice site |
probably null |
|
R1443:Ptprn2
|
UTSW |
12 |
117,217,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R1508:Ptprn2
|
UTSW |
12 |
117,148,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R1664:Ptprn2
|
UTSW |
12 |
117,125,329 (GRCm39) |
missense |
probably damaging |
0.99 |
R1670:Ptprn2
|
UTSW |
12 |
116,685,792 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1749:Ptprn2
|
UTSW |
12 |
116,544,048 (GRCm39) |
missense |
probably benign |
0.00 |
R2075:Ptprn2
|
UTSW |
12 |
117,211,337 (GRCm39) |
missense |
probably benign |
0.01 |
R3054:Ptprn2
|
UTSW |
12 |
116,685,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R3107:Ptprn2
|
UTSW |
12 |
116,839,800 (GRCm39) |
missense |
probably benign |
0.04 |
R3109:Ptprn2
|
UTSW |
12 |
116,839,800 (GRCm39) |
missense |
probably benign |
0.04 |
R3552:Ptprn2
|
UTSW |
12 |
116,852,497 (GRCm39) |
missense |
probably benign |
0.00 |
R4193:Ptprn2
|
UTSW |
12 |
116,864,628 (GRCm39) |
missense |
probably benign |
0.01 |
R4523:Ptprn2
|
UTSW |
12 |
116,839,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R4706:Ptprn2
|
UTSW |
12 |
116,835,714 (GRCm39) |
missense |
probably benign |
0.02 |
R4719:Ptprn2
|
UTSW |
12 |
116,788,016 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4726:Ptprn2
|
UTSW |
12 |
117,211,393 (GRCm39) |
nonsense |
probably null |
|
R4872:Ptprn2
|
UTSW |
12 |
117,125,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R4891:Ptprn2
|
UTSW |
12 |
117,196,985 (GRCm39) |
splice site |
probably null |
|
R4970:Ptprn2
|
UTSW |
12 |
117,240,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R5208:Ptprn2
|
UTSW |
12 |
116,822,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5287:Ptprn2
|
UTSW |
12 |
117,175,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R5419:Ptprn2
|
UTSW |
12 |
117,148,267 (GRCm39) |
missense |
probably damaging |
0.99 |
R6035:Ptprn2
|
UTSW |
12 |
117,219,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Ptprn2
|
UTSW |
12 |
117,219,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R6180:Ptprn2
|
UTSW |
12 |
116,822,739 (GRCm39) |
missense |
probably benign |
0.05 |
R6277:Ptprn2
|
UTSW |
12 |
116,839,800 (GRCm39) |
missense |
probably benign |
0.04 |
R6465:Ptprn2
|
UTSW |
12 |
117,233,209 (GRCm39) |
missense |
probably damaging |
0.96 |
R6488:Ptprn2
|
UTSW |
12 |
116,835,658 (GRCm39) |
missense |
probably benign |
0.13 |
R6555:Ptprn2
|
UTSW |
12 |
117,190,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R6908:Ptprn2
|
UTSW |
12 |
116,852,508 (GRCm39) |
missense |
probably benign |
0.06 |
R7120:Ptprn2
|
UTSW |
12 |
116,835,676 (GRCm39) |
missense |
probably benign |
0.01 |
R7229:Ptprn2
|
UTSW |
12 |
117,190,845 (GRCm39) |
splice site |
probably null |
|
R7237:Ptprn2
|
UTSW |
12 |
117,125,347 (GRCm39) |
missense |
probably benign |
0.03 |
R7304:Ptprn2
|
UTSW |
12 |
117,212,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R7355:Ptprn2
|
UTSW |
12 |
116,822,571 (GRCm39) |
missense |
probably benign |
|
R7460:Ptprn2
|
UTSW |
12 |
117,212,301 (GRCm39) |
missense |
probably benign |
0.05 |
R7577:Ptprn2
|
UTSW |
12 |
116,449,486 (GRCm39) |
start codon destroyed |
probably null |
|
R7658:Ptprn2
|
UTSW |
12 |
116,685,739 (GRCm39) |
missense |
probably benign |
0.01 |
R7666:Ptprn2
|
UTSW |
12 |
116,804,940 (GRCm39) |
missense |
probably benign |
0.10 |
R7924:Ptprn2
|
UTSW |
12 |
116,804,884 (GRCm39) |
missense |
probably benign |
0.00 |
R8219:Ptprn2
|
UTSW |
12 |
117,148,357 (GRCm39) |
missense |
probably benign |
0.30 |
R8716:Ptprn2
|
UTSW |
12 |
117,219,168 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9235:Ptprn2
|
UTSW |
12 |
117,233,271 (GRCm39) |
critical splice donor site |
probably null |
|
R9605:Ptprn2
|
UTSW |
12 |
117,125,278 (GRCm39) |
missense |
probably benign |
0.13 |
X0066:Ptprn2
|
UTSW |
12 |
117,148,360 (GRCm39) |
missense |
probably benign |
0.16 |
X0066:Ptprn2
|
UTSW |
12 |
117,125,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-01-20 |