Incidental Mutation 'R7577:Ptprn2'
ID |
586533 |
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 |
045662-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R7577 (G1)
|
Quality Score |
93.0077 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to C
at 116449486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
AlphaFold |
P80560 |
Predicted Effect |
probably null
Transcript: ENSMUST00000070733
AA Change: M1T
|
SMART Domains |
Protein: ENSMUSP00000064046 Gene: ENSMUSG00000056553 AA Change: M1T
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 |
probably null
Transcript: ENSMUST00000190247
AA Change: M1T
|
SMART Domains |
Protein: ENSMUSP00000139978 Gene: ENSMUSG00000056553 AA Change: M1T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
C |
T |
10: 78,902,325 (GRCm39) |
V664M |
possibly damaging |
Het |
Abca4 |
A |
G |
3: 121,967,663 (GRCm39) |
T2238A |
probably damaging |
Het |
Adss2 |
G |
A |
1: 177,595,263 (GRCm39) |
Q426* |
probably null |
Het |
Afap1l2 |
T |
C |
19: 56,933,199 (GRCm39) |
E71G |
probably damaging |
Het |
Afg1l |
T |
C |
10: 42,194,607 (GRCm39) |
D395G |
probably damaging |
Het |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,592,302 (GRCm39) |
T385A |
probably benign |
Het |
Ank3 |
C |
T |
10: 69,828,402 (GRCm39) |
T2357I |
|
Het |
Ankfn1 |
T |
A |
11: 89,394,797 (GRCm39) |
S263C |
probably benign |
Het |
Atpsckmt |
C |
T |
15: 31,606,186 (GRCm39) |
A48V |
probably damaging |
Het |
Azin1 |
C |
T |
15: 38,501,665 (GRCm39) |
V29I |
probably benign |
Het |
B3galt2 |
T |
C |
1: 143,523,042 (GRCm39) |
Y393H |
probably damaging |
Het |
Cnbd2 |
G |
T |
2: 156,170,296 (GRCm39) |
R127L |
possibly damaging |
Het |
Col6a5 |
A |
T |
9: 105,741,887 (GRCm39) |
L2344* |
probably null |
Het |
Csn3 |
T |
C |
5: 88,077,821 (GRCm39) |
V109A |
not run |
Het |
Cxcr2 |
C |
G |
1: 74,198,074 (GRCm39) |
N189K |
probably benign |
Het |
Dclre1a |
A |
G |
19: 56,517,965 (GRCm39) |
F1038S |
probably damaging |
Het |
Ddx21 |
T |
C |
10: 62,426,449 (GRCm39) |
Q468R |
probably benign |
Het |
Dlx6 |
A |
G |
6: 6,863,423 (GRCm39) |
D15G |
probably damaging |
Het |
Dnajb14 |
T |
C |
3: 137,610,558 (GRCm39) |
V262A |
possibly damaging |
Het |
Dpp7 |
A |
G |
2: 25,245,603 (GRCm39) |
V161A |
probably benign |
Het |
Enkur |
C |
T |
2: 21,209,913 (GRCm39) |
S16N |
probably benign |
Het |
Ensa |
C |
A |
3: 95,535,956 (GRCm39) |
H96Q |
probably damaging |
Het |
Ero1b |
T |
G |
13: 12,617,254 (GRCm39) |
C393G |
probably damaging |
Het |
Fbxo3 |
T |
C |
2: 103,881,543 (GRCm39) |
F292L |
possibly damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,853,848 (GRCm39) |
D1604G |
possibly damaging |
Het |
Fos |
T |
C |
12: 85,521,871 (GRCm39) |
S102P |
probably benign |
Het |
Foxs1 |
C |
T |
2: 152,774,361 (GRCm39) |
G231S |
probably benign |
Het |
Furin |
T |
C |
7: 80,046,734 (GRCm39) |
D174G |
probably damaging |
Het |
Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
Git2 |
C |
T |
5: 114,904,550 (GRCm39) |
R123H |
probably damaging |
Het |
Gm32687 |
T |
A |
10: 81,716,023 (GRCm39) |
C472S |
probably damaging |
Het |
Gmip |
A |
G |
8: 70,267,085 (GRCm39) |
E327G |
probably benign |
Het |
Gpld1 |
A |
G |
13: 25,146,388 (GRCm39) |
T211A |
probably benign |
Het |
Grin2d |
T |
C |
7: 45,511,803 (GRCm39) |
H214R |
probably benign |
Het |
Hfm1 |
T |
C |
5: 107,043,909 (GRCm39) |
T576A |
probably benign |
Het |
Hnrnpd |
A |
T |
5: 100,115,113 (GRCm39) |
F142I |
probably damaging |
Het |
Krt32 |
T |
A |
11: 99,972,047 (GRCm39) |
T434S |
probably benign |
Het |
Lct |
T |
G |
1: 128,228,469 (GRCm39) |
D1008A |
probably damaging |
Het |
Man1c1 |
A |
G |
4: 134,291,814 (GRCm39) |
|
probably null |
Het |
Marchf7 |
T |
A |
2: 60,060,048 (GRCm39) |
C58* |
probably null |
Het |
Mccc1 |
C |
T |
3: 36,029,943 (GRCm39) |
|
probably null |
Het |
Mybpc1 |
T |
A |
10: 88,385,187 (GRCm39) |
D484V |
probably damaging |
Het |
Myh10 |
T |
A |
11: 68,636,806 (GRCm39) |
C227S |
unknown |
Het |
Niban1 |
T |
A |
1: 151,594,063 (GRCm39) |
V916E |
probably benign |
Het |
Nin |
T |
C |
12: 70,109,480 (GRCm39) |
E153G |
|
Het |
Nr1h2 |
G |
A |
7: 44,200,216 (GRCm39) |
T313M |
probably damaging |
Het |
Or4g7 |
T |
A |
2: 111,309,477 (GRCm39) |
I116K |
probably damaging |
Het |
Or5k15 |
G |
T |
16: 58,709,629 (GRCm39) |
A318D |
probably benign |
Het |
Otog |
C |
A |
7: 45,937,279 (GRCm39) |
H1663N |
possibly damaging |
Het |
Piezo2 |
G |
T |
18: 63,186,081 (GRCm39) |
T1696K |
probably benign |
Het |
Plcd1 |
A |
T |
9: 118,901,322 (GRCm39) |
N703K |
possibly damaging |
Het |
Plekhg4 |
T |
A |
8: 106,102,031 (GRCm39) |
C7S |
probably benign |
Het |
Pnma2 |
A |
G |
14: 67,153,428 (GRCm39) |
|
probably benign |
Het |
Potegl |
A |
G |
2: 23,097,837 (GRCm39) |
Y5C |
probably benign |
Het |
Prag1 |
A |
G |
8: 36,614,096 (GRCm39) |
Y1216C |
probably damaging |
Het |
Prima1 |
T |
C |
12: 103,163,566 (GRCm39) |
Y135C |
probably damaging |
Het |
Prkce |
C |
A |
17: 86,800,721 (GRCm39) |
S379* |
probably null |
Het |
Prmt7 |
A |
G |
8: 106,968,835 (GRCm39) |
N383S |
probably damaging |
Het |
Ptafr |
A |
G |
4: 132,307,063 (GRCm39) |
Y151C |
probably damaging |
Het |
Rad23a |
A |
T |
8: 85,565,108 (GRCm39) |
S136T |
probably benign |
Het |
Rnf123 |
A |
T |
9: 107,947,818 (GRCm39) |
Y137N |
probably damaging |
Het |
Sfxn4 |
A |
C |
19: 60,842,324 (GRCm39) |
I126S |
probably benign |
Het |
Slc4a4 |
A |
G |
5: 89,373,726 (GRCm39) |
H935R |
probably damaging |
Het |
Slitrk3 |
T |
G |
3: 72,958,448 (GRCm39) |
N108T |
probably damaging |
Het |
Spred1 |
T |
A |
2: 117,007,806 (GRCm39) |
H237Q |
probably benign |
Het |
Syne1 |
T |
A |
10: 5,074,820 (GRCm39) |
K1168N |
probably damaging |
Het |
Syt14 |
T |
C |
1: 192,665,885 (GRCm39) |
K340E |
unknown |
Het |
Tespa1 |
T |
C |
10: 130,190,624 (GRCm39) |
S84P |
probably damaging |
Het |
Tmem268 |
G |
T |
4: 63,480,681 (GRCm39) |
|
probably benign |
Het |
Tmem52b |
T |
A |
6: 129,493,040 (GRCm39) |
Y48* |
probably null |
Het |
Tox2 |
C |
A |
2: 163,157,822 (GRCm39) |
Y295* |
probably null |
Het |
Trp53bp1 |
T |
G |
2: 121,067,119 (GRCm39) |
T536P |
possibly damaging |
Het |
Tysnd1 |
T |
C |
10: 61,531,665 (GRCm39) |
C106R |
probably benign |
Het |
Unc5d |
T |
C |
8: 29,381,449 (GRCm39) |
I63V |
probably damaging |
Het |
Vmn1r235 |
A |
G |
17: 21,481,881 (GRCm39) |
N69D |
possibly damaging |
Het |
Vps11 |
A |
T |
9: 44,260,258 (GRCm39) |
M868K |
probably benign |
Het |
Wipf3 |
A |
G |
6: 54,462,509 (GRCm39) |
T240A |
possibly damaging |
Het |
Xirp2 |
G |
A |
2: 67,345,309 (GRCm39) |
E2517K |
possibly damaging |
Het |
Ylpm1 |
T |
A |
12: 85,043,994 (GRCm39) |
L244Q |
unknown |
Het |
Zdhhc18 |
G |
T |
4: 133,342,520 (GRCm39) |
S198* |
probably null |
Het |
Zfp760 |
T |
A |
17: 21,941,242 (GRCm39) |
L139* |
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCTTGTGGGGATAGAACC -3'
(R):5'- TATGGTTGAGCTGTCCCAGG -3'
Sequencing Primer
(F):5'- TGAACGTGCATGGCTGAC -3'
(R):5'- AGCTGTCCCAGGTCCTTGAC -3'
|
Posted On |
2019-10-24 |