Incidental Mutation 'R0694:Ptprn2'
| ID |
63431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprn2
|
| Ensembl Gene |
ENSMUSG00000056553 |
| Gene Name |
protein tyrosine phosphatase, receptor type, N polypeptide 2 |
| Synonyms |
phogrin, 4930425H11Rik, IA-2 beta, PTP-NP, IA-2beta |
| MMRRC Submission |
038879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R0694 (G1)
|
| Quality Score |
144 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116485720-117276849 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 116824355 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 105
(A105S)
|
| 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: A105S
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: A105S
| 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 |
possibly damaging
Transcript: ENSMUST00000190247
AA Change: A105S
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: A105S
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 91.7%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4b |
C |
T |
13: 14,187,834 |
T961I |
probably damaging |
Het |
| Asb13 |
G |
T |
13: 3,649,480 |
A227S |
probably benign |
Het |
| Atp6v1g1 |
C |
T |
4: 63,549,993 |
R78W |
probably benign |
Het |
| Bglap2 |
C |
T |
3: 88,378,416 |
D31N |
possibly damaging |
Het |
| Dsn1 |
T |
C |
2: 157,005,869 |
T2A |
possibly damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,221,139 |
I248N |
probably damaging |
Het |
| Fbxo39 |
G |
A |
11: 72,318,469 |
R385Q |
probably benign |
Het |
| Glyr1 |
T |
C |
16: 5,026,560 |
N284S |
probably damaging |
Het |
| Hus1 |
C |
T |
11: 9,007,531 |
W144* |
probably null |
Het |
| Kcna1 |
T |
C |
6: 126,642,245 |
T371A |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,768,637 |
N2510I |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,290,045 |
|
probably null |
Het |
| Sema6d |
T |
C |
2: 124,664,041 |
S633P |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 166,085,791 |
N362S |
probably damaging |
Het |
| Tmem136 |
C |
T |
9: 43,111,626 |
W126* |
probably null |
Het |
| Trim50 |
A |
T |
5: 135,353,545 |
I84L |
probably benign |
Het |
| Trpc3 |
A |
T |
3: 36,671,555 |
F91I |
possibly damaging |
Het |
| Zfp804a |
A |
G |
2: 82,053,804 |
Y5C |
probably damaging |
Het |
|
| Other mutations in Ptprn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01695:Ptprn2
|
APN |
12 |
116841388 |
missense |
probably benign |
0.02 |
|
IGL01788:Ptprn2
|
APN |
12 |
116900987 |
missense |
probably damaging |
0.98 |
|
IGL02172:Ptprn2
|
APN |
12 |
116873697 |
splice site |
probably benign |
|
|
IGL02339:Ptprn2
|
APN |
12 |
116722104 |
missense |
probably damaging |
1.00 |
|
IGL02706:Ptprn2
|
APN |
12 |
116888898 |
missense |
probably damaging |
0.96 |
|
IGL03018:Ptprn2
|
APN |
12 |
117211943 |
missense |
probably damaging |
1.00 |
|
IGL03267:Ptprn2
|
APN |
12 |
116876344 |
nonsense |
probably null |
|
|
BB001:Ptprn2
|
UTSW |
12 |
116841264 |
missense |
probably benign |
0.00 |
|
BB011:Ptprn2
|
UTSW |
12 |
116841264 |
missense |
probably benign |
0.00 |
|
IGL03014:Ptprn2
|
UTSW |
12 |
117248688 |
missense |
probably damaging |
1.00 |
|
R0066:Ptprn2
|
UTSW |
12 |
117276602 |
missense |
probably benign |
0.07 |
|
R0066:Ptprn2
|
UTSW |
12 |
117276602 |
missense |
probably benign |
0.07 |
|
R0115:Ptprn2
|
UTSW |
12 |
117211846 |
splice site |
probably benign |
|
|
R0131:Ptprn2
|
UTSW |
12 |
116722091 |
missense |
probably damaging |
1.00 |
|
R0131:Ptprn2
|
UTSW |
12 |
116722091 |
missense |
probably damaging |
1.00 |
|
R0132:Ptprn2
|
UTSW |
12 |
116722091 |
missense |
probably damaging |
1.00 |
|
R0481:Ptprn2
|
UTSW |
12 |
117211846 |
splice site |
probably benign |
|
|
R0698:Ptprn2
|
UTSW |
12 |
116722130 |
nonsense |
probably null |
|
|
R0746:Ptprn2
|
UTSW |
12 |
116901017 |
missense |
probably benign |
0.00 |
|
R1127:Ptprn2
|
UTSW |
12 |
117212008 |
splice site |
probably null |
|
|
R1443:Ptprn2
|
UTSW |
12 |
117253615 |
missense |
probably damaging |
1.00 |
|
R1508:Ptprn2
|
UTSW |
12 |
117184722 |
missense |
probably damaging |
1.00 |
|
R1664:Ptprn2
|
UTSW |
12 |
117161709 |
missense |
probably damaging |
0.99 |
|
R1670:Ptprn2
|
UTSW |
12 |
116722172 |
missense |
possibly damaging |
0.64 |
|
R1749:Ptprn2
|
UTSW |
12 |
116580428 |
missense |
probably benign |
0.00 |
|
R2075:Ptprn2
|
UTSW |
12 |
117247717 |
missense |
probably benign |
0.01 |
|
R3054:Ptprn2
|
UTSW |
12 |
116722133 |
missense |
probably damaging |
1.00 |
|
R3107:Ptprn2
|
UTSW |
12 |
116876180 |
missense |
probably benign |
0.04 |
|
R3109:Ptprn2
|
UTSW |
12 |
116876180 |
missense |
probably benign |
0.04 |
|
R3552:Ptprn2
|
UTSW |
12 |
116888877 |
missense |
probably benign |
0.00 |
|
R4193:Ptprn2
|
UTSW |
12 |
116901008 |
missense |
probably benign |
0.01 |
|
R4523:Ptprn2
|
UTSW |
12 |
116876000 |
missense |
probably damaging |
1.00 |
|
R4706:Ptprn2
|
UTSW |
12 |
116872094 |
missense |
probably benign |
0.02 |
|
R4719:Ptprn2
|
UTSW |
12 |
116824396 |
missense |
possibly damaging |
0.95 |
|
R4726:Ptprn2
|
UTSW |
12 |
117247773 |
nonsense |
probably null |
|
|
R4872:Ptprn2
|
UTSW |
12 |
117161694 |
missense |
probably damaging |
1.00 |
|
R4891:Ptprn2
|
UTSW |
12 |
117233365 |
splice site |
probably null |
|
|
R4970:Ptprn2
|
UTSW |
12 |
117276595 |
missense |
probably damaging |
1.00 |
|
R5208:Ptprn2
|
UTSW |
12 |
116858928 |
missense |
probably damaging |
1.00 |
|
R5287:Ptprn2
|
UTSW |
12 |
117211862 |
missense |
probably damaging |
1.00 |
|
R5419:Ptprn2
|
UTSW |
12 |
117184647 |
missense |
probably damaging |
0.99 |
|
R6035:Ptprn2
|
UTSW |
12 |
117255595 |
missense |
probably damaging |
1.00 |
|
R6035:Ptprn2
|
UTSW |
12 |
117255595 |
missense |
probably damaging |
1.00 |
|
R6180:Ptprn2
|
UTSW |
12 |
116859119 |
missense |
probably benign |
0.05 |
|
R6277:Ptprn2
|
UTSW |
12 |
116876180 |
missense |
probably benign |
0.04 |
|
R6465:Ptprn2
|
UTSW |
12 |
117269589 |
missense |
probably damaging |
0.96 |
|
R6488:Ptprn2
|
UTSW |
12 |
116872038 |
missense |
probably benign |
0.13 |
|
R6555:Ptprn2
|
UTSW |
12 |
117227200 |
missense |
probably damaging |
1.00 |
|
R6908:Ptprn2
|
UTSW |
12 |
116888888 |
missense |
probably benign |
0.06 |
|
R7120:Ptprn2
|
UTSW |
12 |
116872056 |
missense |
probably benign |
0.01 |
|
R7229:Ptprn2
|
UTSW |
12 |
117227225 |
splice site |
probably null |
|
|
R7237:Ptprn2
|
UTSW |
12 |
117161727 |
missense |
probably benign |
0.03 |
|
R7304:Ptprn2
|
UTSW |
12 |
117248544 |
missense |
probably damaging |
1.00 |
|
R7355:Ptprn2
|
UTSW |
12 |
116858951 |
missense |
probably benign |
|
|
R7460:Ptprn2
|
UTSW |
12 |
117248681 |
missense |
probably benign |
0.05 |
|
R7577:Ptprn2
|
UTSW |
12 |
116485866 |
start codon destroyed |
probably null |
|
|
R7658:Ptprn2
|
UTSW |
12 |
116722119 |
missense |
probably benign |
0.01 |
|
R7666:Ptprn2
|
UTSW |
12 |
116841320 |
missense |
probably benign |
0.10 |
|
R7924:Ptprn2
|
UTSW |
12 |
116841264 |
missense |
probably benign |
0.00 |
|
R8219:Ptprn2
|
UTSW |
12 |
117184737 |
missense |
probably benign |
0.30 |
|
R8716:Ptprn2
|
UTSW |
12 |
117255548 |
missense |
possibly damaging |
0.73 |
|
R9235:Ptprn2
|
UTSW |
12 |
117269651 |
critical splice donor site |
probably null |
|
|
R9605:Ptprn2
|
UTSW |
12 |
117161658 |
missense |
probably benign |
0.13 |
|
X0066:Ptprn2
|
UTSW |
12 |
117161760 |
missense |
probably damaging |
1.00 |
|
X0066:Ptprn2
|
UTSW |
12 |
117184740 |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCAGGTAGACAAGGTCCATCTTC -3'
(R):5'- GCACCACATTTCAGGGTTACTCCAC -3'
Sequencing Primer
(F):5'- GTGTTAGACAAAAGCCTCTCTCAG -3'
(R):5'- CCACTGTATAAAGATGCCTTGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation