Incidental Mutation 'R6277:Ptprn2'
| ID |
507739 |
| 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 |
044447-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R6277 (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 G
at 116839800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 441
(D441G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
| AlphaFold |
P80560 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070733
AA Change: D441G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: D441G
| 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: ENSMUST00000189009
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190247
AA Change: D441G
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: D441G
| 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 |
0.0796 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
| Validation Efficiency |
96% (70/73) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,385,651 (GRCm39) |
Y105H |
possibly damaging |
Het |
| 4921539E11Rik |
A |
T |
4: 103,088,668 (GRCm39) |
Y179* |
probably null |
Het |
| Abca7 |
G |
C |
10: 79,841,992 (GRCm39) |
V1042L |
probably benign |
Het |
| Adck5 |
C |
A |
15: 76,477,463 (GRCm39) |
T99K |
possibly damaging |
Het |
| Adcy5 |
A |
G |
16: 35,109,896 (GRCm39) |
T823A |
probably benign |
Het |
| Adra1d |
G |
T |
2: 131,403,083 (GRCm39) |
R336S |
probably damaging |
Het |
| Arhgap39 |
A |
T |
15: 76,619,337 (GRCm39) |
M749K |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,086,665 (GRCm39) |
R168G |
possibly damaging |
Het |
| Atxn10 |
A |
G |
15: 85,275,893 (GRCm39) |
T317A |
probably benign |
Het |
| Bicc1 |
T |
C |
10: 70,863,731 (GRCm39) |
K22E |
possibly damaging |
Het |
| Cacna1b |
T |
G |
2: 24,620,808 (GRCm39) |
T281P |
probably damaging |
Het |
| Ccdc174 |
A |
T |
6: 91,857,272 (GRCm39) |
Q26L |
probably damaging |
Het |
| Celf3 |
T |
C |
3: 94,392,672 (GRCm39) |
C124R |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,257,669 (GRCm39) |
E1068G |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,873,255 (GRCm39) |
E1284D |
probably benign |
Het |
| Dcbld2 |
T |
A |
16: 58,272,119 (GRCm39) |
Y392N |
probably damaging |
Het |
| Dcbld2 |
C |
T |
16: 58,285,866 (GRCm39) |
P675L |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,492,439 (GRCm39) |
H1193L |
probably damaging |
Het |
| Efcab3 |
G |
C |
11: 104,901,148 (GRCm39) |
E4422D |
possibly damaging |
Het |
| Ern2 |
A |
G |
7: 121,785,330 (GRCm39) |
F16L |
probably benign |
Het |
| Fam163b |
G |
T |
2: 27,002,763 (GRCm39) |
T78N |
probably benign |
Het |
| Fbxw21 |
A |
T |
9: 108,974,623 (GRCm39) |
I299K |
possibly damaging |
Het |
| Foxg1 |
A |
G |
12: 49,432,299 (GRCm39) |
N344S |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,871,308 (GRCm39) |
I202T |
probably damaging |
Het |
| Gm11595 |
G |
T |
11: 99,663,510 (GRCm39) |
P57T |
unknown |
Het |
| Gm12258 |
G |
A |
11: 58,745,113 (GRCm39) |
V15M |
probably damaging |
Het |
| Gm15056 |
C |
T |
8: 21,390,914 (GRCm39) |
G40S |
probably damaging |
Het |
| Gnal |
C |
A |
18: 67,346,143 (GRCm39) |
H274Q |
probably damaging |
Het |
| Hormad2 |
A |
T |
11: 4,371,583 (GRCm39) |
|
probably null |
Het |
| Ighv7-2 |
A |
G |
12: 113,876,087 (GRCm39) |
I6T |
probably benign |
Het |
| Irf9 |
A |
G |
14: 55,845,109 (GRCm39) |
D323G |
probably benign |
Het |
| Klhl23 |
G |
T |
2: 69,664,096 (GRCm39) |
D482Y |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,982,006 (GRCm39) |
N1745S |
probably damaging |
Het |
| Lct |
T |
A |
1: 128,231,974 (GRCm39) |
Y625F |
probably benign |
Het |
| Lrrc26 |
T |
C |
2: 25,180,116 (GRCm39) |
V39A |
probably benign |
Het |
| Mllt6 |
G |
A |
11: 97,564,774 (GRCm39) |
A527T |
probably damaging |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,649 (GRCm39) |
D93V |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,120,880 (GRCm39) |
D698G |
probably damaging |
Het |
| Or13p10 |
T |
A |
4: 118,523,520 (GRCm39) |
S269T |
probably benign |
Het |
| Pacsin1 |
T |
A |
17: 27,924,969 (GRCm39) |
|
probably null |
Het |
| Padi3 |
A |
T |
4: 140,518,472 (GRCm39) |
|
probably null |
Het |
| Pcdha8 |
T |
C |
18: 37,127,411 (GRCm39) |
I631T |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,972,957 (GRCm39) |
G315D |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,907,422 (GRCm39) |
D228E |
probably benign |
Het |
| Prag1 |
G |
T |
8: 36,613,745 (GRCm39) |
R1099L |
probably damaging |
Het |
| Pramel31 |
A |
G |
4: 144,090,223 (GRCm39) |
E421G |
probably damaging |
Het |
| Prr36 |
A |
G |
8: 4,264,746 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,541,883 (GRCm39) |
S369P |
probably benign |
Het |
| Slc9c1 |
G |
A |
16: 45,427,204 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
G |
A |
19: 41,588,948 (GRCm39) |
T1513I |
possibly damaging |
Het |
| Smcr8 |
C |
T |
11: 60,669,635 (GRCm39) |
T261M |
probably benign |
Het |
| Spata17 |
G |
A |
1: 186,926,151 (GRCm39) |
R60* |
probably null |
Het |
| Speer4f1 |
A |
G |
5: 17,681,241 (GRCm39) |
R40G |
probably damaging |
Het |
| Spns3 |
A |
G |
11: 72,420,466 (GRCm39) |
V340A |
possibly damaging |
Het |
| Srgap3 |
T |
C |
6: 112,716,344 (GRCm39) |
I595V |
probably benign |
Het |
| Srms |
G |
A |
2: 180,848,038 (GRCm39) |
A489V |
possibly damaging |
Het |
| St3gal4 |
T |
C |
9: 34,964,558 (GRCm39) |
N169S |
probably damaging |
Het |
| Taar5 |
T |
A |
10: 23,847,169 (GRCm39) |
V189E |
probably damaging |
Het |
| Tbc1d32 |
G |
A |
10: 56,071,525 (GRCm39) |
P333L |
probably benign |
Het |
| Tet3 |
G |
T |
6: 83,345,066 (GRCm39) |
Y1790* |
probably null |
Het |
| Ticrr |
T |
A |
7: 79,344,444 (GRCm39) |
H1436Q |
probably benign |
Het |
| Top6bl |
G |
T |
19: 4,677,250 (GRCm39) |
S466* |
probably null |
Het |
| Ubl7 |
C |
T |
9: 57,830,555 (GRCm39) |
L334F |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,119,283 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,606,451 (GRCm39) |
D1303G |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,509,954 (GRCm39) |
L842P |
possibly damaging |
Het |
| Vps35 |
G |
T |
8: 85,987,857 (GRCm39) |
Q765K |
possibly damaging |
Het |
| Zfp87 |
G |
T |
13: 74,520,643 (GRCm39) |
S145* |
probably null |
Het |
| Zgrf1 |
C |
T |
3: 127,392,461 (GRCm39) |
A1327V |
possibly damaging |
Het |
| Zkscan6 |
T |
A |
11: 65,718,983 (GRCm39) |
S334R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTAGGTCAACCGTCTGAGC -3'
(R):5'- AGAGCCACCACTCACTTGTTTC -3'
Sequencing Primer
(F):5'- GTCAACCGTCTGAGCTTCCAG -3'
(R):5'- ACTCACTTGTTTCCTGTGAGG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation