Incidental Mutation 'R7229:Ptprn2'
ID |
568610 |
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 |
045301-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R7229 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 117190845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
AlphaFold |
P80560 |
Predicted Effect |
probably null
Transcript: ENSMUST00000070733
|
SMART Domains |
Protein: ENSMUSP00000064046 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
|
495 |
583 |
1.5e-35 |
PFAM |
low complexity region
|
687 |
707 |
N/A |
INTRINSIC |
PTPc
|
730 |
993 |
4.42e-119 |
SMART |
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (73/73) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,832,809 (GRCm39) |
E122G |
probably benign |
Het |
Adamts2 |
T |
C |
11: 50,682,647 (GRCm39) |
Y880H |
probably damaging |
Het |
Atp13a4 |
A |
G |
16: 29,239,723 (GRCm39) |
S830P |
probably benign |
Het |
Atp1a3 |
T |
A |
7: 24,687,410 (GRCm39) |
Q696L |
probably benign |
Het |
Brox |
G |
A |
1: 183,073,523 (GRCm39) |
R85* |
probably null |
Het |
C130073F10Rik |
T |
C |
4: 101,747,439 (GRCm39) |
I197V |
probably benign |
Het |
Cand2 |
G |
A |
6: 115,768,153 (GRCm39) |
V433M |
probably damaging |
Het |
Cep83 |
A |
G |
10: 94,555,527 (GRCm39) |
K74E |
probably damaging |
Het |
Chrng |
A |
T |
1: 87,137,166 (GRCm39) |
T275S |
probably benign |
Het |
Clca3a2 |
T |
C |
3: 144,789,869 (GRCm39) |
D489G |
probably damaging |
Het |
Cmtr1 |
A |
G |
17: 29,914,398 (GRCm39) |
|
probably null |
Het |
Cnga1 |
T |
C |
5: 72,775,592 (GRCm39) |
N43S |
probably benign |
Het |
Cog8 |
A |
T |
8: 107,782,984 (GRCm39) |
C102S |
probably damaging |
Het |
Cpsf3 |
G |
A |
12: 21,346,738 (GRCm39) |
|
probably null |
Het |
Cyp26b1 |
G |
A |
6: 84,554,132 (GRCm39) |
Q162* |
probably null |
Het |
Elmod3 |
A |
G |
6: 72,571,736 (GRCm39) |
F14S |
probably benign |
Het |
Eps8 |
A |
G |
6: 137,516,354 (GRCm39) |
S9P |
probably benign |
Het |
Fam184b |
T |
C |
5: 45,741,517 (GRCm39) |
Q238R |
probably damaging |
Het |
Fbxw7 |
T |
C |
3: 84,884,676 (GRCm39) |
L654S |
unknown |
Het |
Foxp1 |
A |
T |
6: 98,912,373 (GRCm39) |
L580Q |
unknown |
Het |
Galr1 |
A |
G |
18: 82,423,789 (GRCm39) |
S163P |
probably damaging |
Het |
Ganc |
T |
C |
2: 120,258,256 (GRCm39) |
F201L |
possibly damaging |
Het |
Gin1 |
T |
C |
1: 97,712,876 (GRCm39) |
F310L |
probably benign |
Het |
Grik2 |
A |
T |
10: 48,977,512 (GRCm39) |
|
probably null |
Het |
Haus1 |
A |
T |
18: 77,851,834 (GRCm39) |
F94I |
probably benign |
Het |
Hcn4 |
A |
G |
9: 58,760,682 (GRCm39) |
Y409C |
unknown |
Het |
Hspa1l |
A |
G |
17: 35,196,231 (GRCm39) |
K90R |
probably benign |
Het |
Icam5 |
T |
C |
9: 20,948,297 (GRCm39) |
S702P |
possibly damaging |
Het |
Ifnar1 |
A |
G |
16: 91,296,444 (GRCm39) |
H315R |
probably benign |
Het |
Klra9 |
T |
C |
6: 130,168,224 (GRCm39) |
H14R |
probably damaging |
Het |
Krt78 |
A |
G |
15: 101,855,829 (GRCm39) |
Y661H |
probably benign |
Het |
Krtap11-1 |
T |
C |
16: 89,367,813 (GRCm39) |
T69A |
possibly damaging |
Het |
L3mbtl3 |
C |
A |
10: 26,168,560 (GRCm39) |
S598I |
unknown |
Het |
Lama1 |
A |
T |
17: 68,059,441 (GRCm39) |
D608V |
|
Het |
Lrrc55 |
G |
A |
2: 85,026,784 (GRCm39) |
T80I |
probably damaging |
Het |
Lyst |
A |
T |
13: 13,818,094 (GRCm39) |
T1255S |
probably benign |
Het |
Magi2 |
T |
C |
5: 20,670,586 (GRCm39) |
V310A |
probably damaging |
Het |
Med23 |
C |
A |
10: 24,777,902 (GRCm39) |
A750D |
probably benign |
Het |
Mmp2 |
G |
A |
8: 93,558,414 (GRCm39) |
R161Q |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,387,321 (GRCm39) |
I733F |
probably benign |
Het |
Ncan |
A |
T |
8: 70,552,961 (GRCm39) |
F1090L |
possibly damaging |
Het |
Or2ag2b |
T |
G |
7: 106,418,202 (GRCm39) |
V304G |
probably damaging |
Het |
Otulinl |
G |
A |
15: 27,658,273 (GRCm39) |
T199M |
probably benign |
Het |
Pafah1b1 |
A |
G |
11: 74,573,104 (GRCm39) |
I320T |
probably damaging |
Het |
Pcdhb1 |
T |
A |
18: 37,399,740 (GRCm39) |
Y564N |
probably damaging |
Het |
Pear1 |
A |
G |
3: 87,657,596 (GRCm39) |
S988P |
probably benign |
Het |
Pgam2 |
A |
C |
11: 5,753,013 (GRCm39) |
V194G |
probably damaging |
Het |
Plvap |
A |
T |
8: 71,964,221 (GRCm39) |
I47N |
probably damaging |
Het |
Prdx6 |
A |
T |
1: 161,074,867 (GRCm39) |
L71H |
probably damaging |
Het |
Psmb11 |
G |
A |
14: 54,863,408 (GRCm39) |
V209M |
probably damaging |
Het |
Rcn2 |
T |
A |
9: 55,964,763 (GRCm39) |
N240K |
probably benign |
Het |
Rsad2 |
A |
T |
12: 26,504,122 (GRCm39) |
Y136N |
probably damaging |
Het |
Slc12a4 |
T |
G |
8: 106,673,369 (GRCm39) |
Q734P |
probably benign |
Het |
Smarcc2 |
T |
A |
10: 128,323,917 (GRCm39) |
M1085K |
unknown |
Het |
Smg1 |
A |
T |
7: 117,776,178 (GRCm39) |
C1371S |
probably benign |
Het |
Spg11 |
A |
T |
2: 121,938,585 (GRCm39) |
F456L |
probably damaging |
Het |
Srsf10 |
C |
T |
4: 135,583,528 (GRCm39) |
|
probably benign |
Het |
Stxbp5 |
T |
C |
10: 9,673,931 (GRCm39) |
Y4C |
probably damaging |
Het |
Tdrd12 |
T |
A |
7: 35,179,705 (GRCm39) |
D881V |
unknown |
Het |
Tmem171 |
T |
C |
13: 98,829,133 (GRCm39) |
T6A |
probably benign |
Het |
Tmem220 |
T |
C |
11: 66,916,989 (GRCm39) |
L55P |
unknown |
Het |
Ttn |
G |
T |
2: 76,677,125 (GRCm39) |
P11037Q |
unknown |
Het |
Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,692,084 (GRCm39) |
S849P |
probably benign |
Het |
Vcan |
G |
A |
13: 89,853,389 (GRCm39) |
P524S |
possibly damaging |
Het |
Vmn1r18 |
A |
G |
6: 57,367,083 (GRCm39) |
M157T |
probably benign |
Het |
Vmn2r109 |
A |
T |
17: 20,761,225 (GRCm39) |
C711S |
possibly damaging |
Het |
Wasf3 |
C |
T |
5: 146,392,463 (GRCm39) |
R178C |
probably damaging |
Het |
Wdr76 |
G |
A |
2: 121,359,401 (GRCm39) |
V231I |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,355,895 (GRCm39) |
N3552I |
probably damaging |
Het |
Zfp804a |
A |
G |
2: 82,088,969 (GRCm39) |
T933A |
probably benign |
Het |
Zmynd8 |
A |
G |
2: 165,699,973 (GRCm39) |
|
probably null |
Het |
Zranb3 |
A |
T |
1: 127,968,630 (GRCm39) |
I95K |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTTAAAGCACATGGAGC -3'
(R):5'- ATCATCCCAAGTTCCTGTTAGG -3'
Sequencing Primer
(F):5'- GCACATGGAGCCCACAAGG -3'
(R):5'- TAGGAAACTGCCCTTGCTG -3'
|
Posted On |
2019-08-29 |