Incidental Mutation 'R1749:Ptprn2'
| ID |
194215 |
| 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 |
039781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R1749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116544048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 47
(S47P)
|
| 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: S47P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: S47P
| 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: ENSMUST00000185505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189009
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190247
AA Change: S47P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: S47P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191106
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 93.0%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
A |
T |
3: 152,178,557 (GRCm39) |
M486K |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Aspn |
A |
T |
13: 49,705,261 (GRCm39) |
D41V |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,097,623 (GRCm39) |
E802* |
probably null |
Het |
| Barhl2 |
T |
C |
5: 106,605,572 (GRCm39) |
S46G |
unknown |
Het |
| Cacna1e |
A |
G |
1: 154,319,746 (GRCm39) |
V1318A |
probably damaging |
Het |
| Ccdc69 |
T |
C |
11: 54,941,979 (GRCm39) |
R176G |
probably null |
Het |
| Cdan1 |
T |
C |
2: 120,560,280 (GRCm39) |
N321S |
probably damaging |
Het |
| Cep85l |
T |
C |
10: 53,154,250 (GRCm39) |
D681G |
probably damaging |
Het |
| Cntrob |
A |
T |
11: 69,213,700 (GRCm39) |
V30E |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,449,056 (GRCm39) |
G3646E |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,506,789 (GRCm39) |
|
probably null |
Het |
| Dab1 |
A |
T |
4: 104,185,495 (GRCm39) |
|
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,039,352 (GRCm39) |
S167P |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,182,767 (GRCm39) |
|
probably null |
Het |
| Dok3 |
GCC |
GC |
13: 55,672,168 (GRCm39) |
|
probably null |
Het |
| Ebf1 |
A |
T |
11: 44,798,835 (GRCm39) |
I287L |
possibly damaging |
Het |
| Eci1 |
G |
A |
17: 24,645,721 (GRCm39) |
|
probably null |
Het |
| Emb |
T |
A |
13: 117,386,242 (GRCm39) |
I133N |
possibly damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,298,443 (GRCm39) |
I184V |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,183,348 (GRCm39) |
D1779G |
probably benign |
Het |
| Fgfr4 |
T |
A |
13: 55,315,605 (GRCm39) |
|
probably null |
Het |
| Flt1 |
G |
A |
5: 147,591,929 (GRCm39) |
T511M |
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,089,456 (GRCm39) |
L205P |
probably damaging |
Het |
| Hepacam2 |
A |
G |
6: 3,483,379 (GRCm39) |
V134A |
probably damaging |
Het |
| Htr3a |
A |
G |
9: 48,812,233 (GRCm39) |
V291A |
probably damaging |
Het |
| Ip6k3 |
T |
A |
17: 27,364,053 (GRCm39) |
T332S |
probably benign |
Het |
| Klra6 |
A |
T |
6: 129,995,915 (GRCm39) |
F148I |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,927,162 (GRCm39) |
S1206P |
probably benign |
Het |
| Mbnl2 |
T |
A |
14: 120,626,462 (GRCm39) |
C231S |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,773,952 (GRCm39) |
D5521V |
probably damaging |
Het |
| Mylip |
G |
A |
13: 45,557,946 (GRCm39) |
V52M |
possibly damaging |
Het |
| Naip6 |
A |
G |
13: 100,444,763 (GRCm39) |
S232P |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,808,550 (GRCm39) |
K504R |
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,753,694 (GRCm39) |
N220S |
possibly damaging |
Het |
| Nfasc |
T |
A |
1: 132,539,370 (GRCm39) |
I393F |
probably damaging |
Het |
| Or12d2 |
T |
C |
17: 37,624,952 (GRCm39) |
T108A |
probably benign |
Het |
| Pabpc1 |
T |
C |
15: 36,608,584 (GRCm39) |
Y56C |
probably damaging |
Het |
| Pcca |
A |
G |
14: 122,938,542 (GRCm39) |
K498R |
probably damaging |
Het |
| Phldb1 |
A |
G |
9: 44,627,045 (GRCm39) |
S467P |
probably damaging |
Het |
| Rtca |
A |
T |
3: 116,291,293 (GRCm39) |
I229N |
possibly damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,286,359 (GRCm39) |
S617R |
probably damaging |
Het |
| Slc14a2 |
T |
G |
18: 78,190,295 (GRCm39) |
T885P |
possibly damaging |
Het |
| Sp100 |
A |
C |
1: 85,627,357 (GRCm39) |
T417P |
possibly damaging |
Het |
| Tat |
A |
T |
8: 110,722,846 (GRCm39) |
N303Y |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,185,892 (GRCm39) |
|
probably null |
Het |
| Tln2 |
C |
T |
9: 67,193,796 (GRCm39) |
A1773T |
probably benign |
Het |
| Tnks1bp1 |
A |
G |
2: 84,893,411 (GRCm39) |
S1113G |
probably benign |
Het |
| Tspear |
G |
A |
10: 77,705,507 (GRCm39) |
E302K |
probably benign |
Het |
| Tulp3 |
A |
G |
6: 128,314,722 (GRCm39) |
L23P |
probably damaging |
Het |
| Vti1b |
T |
C |
12: 79,211,807 (GRCm39) |
E42G |
probably damaging |
Het |
| Yeats2 |
G |
T |
16: 20,005,018 (GRCm39) |
E333* |
probably null |
Het |
| Zfp455 |
T |
G |
13: 67,355,073 (GRCm39) |
C114G |
probably damaging |
Het |
| Zfp532 |
G |
A |
18: 65,756,555 (GRCm39) |
V163M |
possibly damaging |
Het |
| Zfp940 |
A |
T |
7: 29,544,952 (GRCm39) |
C318* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAAGGCACAGGACATGCCAC -3'
(R):5'- ACTGAGGCTGATAGGCACTGAGAC -3'
Sequencing Primer
(F):5'- CTCCTGATAGACAGGTTGTCCAG -3'
(R):5'- ACTGAGACACACATCTGTGAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation