Incidental Mutation 'R6908:Ptprn2'
ID |
538881 |
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 |
045000-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R6908 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 116852508 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 522
(I522F)
|
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: I522F
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000064046 Gene: ENSMUSG00000056553 AA Change: I522F
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
AA Change: I522F
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000139978 Gene: ENSMUSG00000056553 AA Change: I522F
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: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
95% (52/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
T |
C |
16: 56,477,668 (GRCm39) |
I1197T |
probably benign |
Het |
Atp2a1 |
A |
G |
7: 126,047,707 (GRCm39) |
|
probably null |
Het |
B3glct |
T |
C |
5: 149,619,941 (GRCm39) |
|
probably null |
Het |
Bbs9 |
T |
G |
9: 22,479,019 (GRCm39) |
I154S |
probably damaging |
Het |
Brip1 |
T |
C |
11: 85,968,710 (GRCm39) |
Y825C |
probably damaging |
Het |
Ccdc186 |
A |
T |
19: 56,780,371 (GRCm39) |
|
probably null |
Het |
Celf6 |
T |
C |
9: 59,511,106 (GRCm39) |
V349A |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,683,044 (GRCm39) |
T495A |
probably benign |
Het |
Cxxc1 |
G |
A |
18: 74,353,630 (GRCm39) |
C546Y |
probably damaging |
Het |
Cxxc5 |
T |
C |
18: 35,992,268 (GRCm39) |
V223A |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,404,841 (GRCm39) |
F316S |
probably benign |
Het |
Dnajc12 |
C |
A |
10: 63,233,104 (GRCm39) |
Q82K |
probably benign |
Het |
Dock8 |
G |
A |
19: 25,165,746 (GRCm39) |
E1877K |
probably damaging |
Het |
Epha3 |
T |
G |
16: 63,418,612 (GRCm39) |
H611P |
probably damaging |
Het |
Fpr-rs6 |
C |
A |
17: 20,402,701 (GRCm39) |
C220F |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,179,554 (GRCm39) |
L2951P |
probably damaging |
Het |
Gbp10 |
T |
G |
5: 105,368,898 (GRCm39) |
T314P |
probably damaging |
Het |
Hbb-bs |
T |
C |
7: 103,476,741 (GRCm39) |
N77D |
probably benign |
Het |
Ints13 |
A |
T |
6: 146,456,531 (GRCm39) |
D438E |
probably damaging |
Het |
Itgb6 |
C |
T |
2: 60,480,365 (GRCm39) |
V324M |
probably benign |
Het |
Kdm7a |
G |
T |
6: 39,121,373 (GRCm39) |
L861M |
possibly damaging |
Het |
Kirrel3 |
A |
G |
9: 34,924,697 (GRCm39) |
T302A |
possibly damaging |
Het |
Lama2 |
A |
T |
10: 26,907,192 (GRCm39) |
|
probably null |
Het |
Lrp2 |
A |
T |
2: 69,302,709 (GRCm39) |
C3007S |
probably damaging |
Het |
Lypd3 |
G |
C |
7: 24,337,858 (GRCm39) |
G75R |
probably damaging |
Het |
Mastl |
T |
C |
2: 23,045,988 (GRCm39) |
|
probably benign |
Het |
Mcf2l |
T |
C |
8: 13,068,919 (GRCm39) |
V1087A |
probably benign |
Het |
Mcmdc2 |
C |
A |
1: 10,001,003 (GRCm39) |
|
probably null |
Het |
Ms4a3 |
A |
G |
19: 11,615,659 (GRCm39) |
I39T |
probably damaging |
Het |
Mylk |
T |
G |
16: 34,700,643 (GRCm39) |
C495G |
probably benign |
Het |
Myo10 |
A |
G |
15: 25,804,469 (GRCm39) |
D1588G |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,396,832 (GRCm39) |
T2634S |
probably damaging |
Het |
Nlrp1b |
T |
C |
11: 71,108,122 (GRCm39) |
I460V |
probably benign |
Het |
Nmt1 |
T |
G |
11: 102,949,080 (GRCm39) |
S312A |
possibly damaging |
Het |
Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
Or2d4 |
T |
C |
7: 106,543,839 (GRCm39) |
Y123C |
possibly damaging |
Het |
Paxip1 |
T |
C |
5: 27,996,222 (GRCm39) |
Y19C |
possibly damaging |
Het |
Pcdhb2 |
G |
T |
18: 37,429,577 (GRCm39) |
A517S |
probably damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,140,885 (GRCm39) |
I559T |
probably damaging |
Het |
Plec |
G |
A |
15: 76,070,081 (GRCm39) |
Q806* |
probably null |
Het |
Prss51 |
C |
T |
14: 64,333,601 (GRCm39) |
A70V |
probably benign |
Het |
Psd3 |
A |
T |
8: 68,416,829 (GRCm39) |
I356K |
probably benign |
Het |
Rab39 |
T |
C |
9: 53,617,369 (GRCm39) |
D16G |
probably damaging |
Het |
Ralgps1 |
T |
C |
2: 33,033,112 (GRCm39) |
Q439R |
probably benign |
Het |
Rapgef2 |
A |
T |
3: 79,011,370 (GRCm39) |
D238E |
probably benign |
Het |
Ripor2 |
G |
A |
13: 24,890,215 (GRCm39) |
G697S |
probably damaging |
Het |
Scn11a |
A |
T |
9: 119,621,492 (GRCm39) |
F642I |
probably damaging |
Het |
Serinc4 |
G |
A |
2: 121,284,086 (GRCm39) |
T310I |
probably benign |
Het |
Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
Slc36a3 |
T |
C |
11: 55,040,712 (GRCm39) |
|
probably benign |
Het |
Smc1b |
A |
G |
15: 84,991,211 (GRCm39) |
S656P |
probably damaging |
Het |
Sorbs1 |
A |
G |
19: 40,340,776 (GRCm39) |
S455P |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,720,202 (GRCm39) |
|
probably benign |
Het |
Tyw5 |
T |
C |
1: 57,440,682 (GRCm39) |
R27G |
probably damaging |
Het |
Vmn1r209 |
T |
C |
13: 22,990,400 (GRCm39) |
T97A |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGGAAATATAGCAGGGCCTTG -3'
(R):5'- AAAGCCCAGGGGAATTCTCC -3'
Sequencing Primer
(F):5'- TATAGCAGGGCCTTGGATCAG -3'
(R):5'- AGGGGAATTCTCCTTTCATTTCTG -3'
|
Posted On |
2018-11-06 |