Incidental Mutation 'R0746:Ptprn2'
| ID |
70146 |
| 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 |
038927-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R0746 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 116864637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 551
(M551L)
|
| 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: M551L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: M551L
| 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: M551L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: M551L
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
T |
C |
17: 79,935,715 (GRCm39) |
|
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,390,562 (GRCm39) |
M1V |
probably null |
Het |
| Adamts10 |
T |
A |
17: 33,768,521 (GRCm39) |
C866* |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,718,675 (GRCm39) |
P4S |
probably benign |
Het |
| Arhgef37 |
A |
G |
18: 61,651,064 (GRCm39) |
|
probably null |
Het |
| Arid4b |
A |
G |
13: 14,317,623 (GRCm39) |
T169A |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,641,316 (GRCm39) |
I829K |
probably benign |
Het |
| Cabp7 |
A |
T |
11: 4,688,900 (GRCm39) |
I190N |
probably damaging |
Het |
| Capn13 |
A |
C |
17: 73,658,503 (GRCm39) |
D188E |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,916,096 (GRCm39) |
F177S |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,308,090 (GRCm39) |
C1283S |
probably damaging |
Het |
| Cul1 |
T |
C |
6: 47,495,222 (GRCm39) |
|
probably null |
Het |
| F7 |
T |
G |
8: 13,084,740 (GRCm39) |
S255R |
probably benign |
Het |
| Fanci |
T |
A |
7: 79,089,429 (GRCm39) |
I955N |
probably damaging |
Het |
| Focad |
C |
A |
4: 88,315,451 (GRCm39) |
D1536E |
possibly damaging |
Het |
| Fus |
A |
G |
7: 127,584,596 (GRCm39) |
|
probably benign |
Het |
| Gpr146 |
C |
T |
5: 139,378,977 (GRCm39) |
R260W |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 34,544,647 (GRCm39) |
F73L |
possibly damaging |
Het |
| Ilf2 |
T |
A |
3: 90,390,114 (GRCm39) |
V142D |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,484 (GRCm39) |
D355G |
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,548 (GRCm39) |
F254S |
probably damaging |
Het |
| Mrps10 |
A |
C |
17: 47,683,564 (GRCm39) |
R139S |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,064,257 (GRCm39) |
T71A |
probably benign |
Het |
| Myo1d |
A |
C |
11: 80,477,705 (GRCm39) |
Y893D |
possibly damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,151,227 (GRCm39) |
E760G |
possibly damaging |
Het |
| Or10ab5 |
A |
T |
7: 108,245,248 (GRCm39) |
D178E |
probably damaging |
Het |
| Or11h6 |
T |
A |
14: 50,880,232 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,268,331 (GRCm39) |
D3349V |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,353,692 (GRCm39) |
Y2275H |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,526,388 (GRCm39) |
T1193A |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,559,394 (GRCm39) |
D815G |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,181,470 (GRCm39) |
T18S |
probably benign |
Het |
| Septin5 |
T |
C |
16: 18,441,975 (GRCm39) |
H277R |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,237,173 (GRCm39) |
S377G |
probably benign |
Het |
| Snx2 |
T |
A |
18: 53,330,961 (GRCm39) |
I142K |
possibly damaging |
Het |
| Spata31d1a |
C |
A |
13: 59,850,077 (GRCm39) |
D684Y |
possibly damaging |
Het |
| Taar6 |
C |
A |
10: 23,861,258 (GRCm39) |
S96I |
probably benign |
Het |
| Thsd7b |
C |
A |
1: 130,116,268 (GRCm39) |
H1340Q |
probably benign |
Het |
| Tmem115 |
C |
T |
9: 107,415,198 (GRCm39) |
T329M |
probably benign |
Het |
| Tmem50b |
C |
T |
16: 91,378,578 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
T |
1: 175,620,539 (GRCm39) |
D316V |
possibly damaging |
Het |
| Yars1 |
C |
A |
4: 129,091,079 (GRCm39) |
S162R |
probably 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 |
|
|
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 |
|
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'- AGAATCCATCCCCGGTGCAATG -3'
(R):5'- CTGAACCCTACTCATGCCACTTTAGAC -3'
Sequencing Primer
(F):5'- GGGGGGgtgggtatgtg -3'
(R):5'- TGCCATGAACTGCTGTGAAC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation