Incidental Mutation 'R4726:Ptprn2'
| ID |
358482 |
| 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 |
041989-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R4726 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116485720-117276849 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 117247773 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 857
(Y857*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
| AlphaFold |
P80560 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000070733
AA Change: Y857*
|
| SMART Domains |
Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: Y857*
| 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: ENSMUST00000083604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190132
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190247
AA Change: Y857*
|
| SMART Domains |
Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: Y857*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (74/75) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930583I09Rik |
T |
C |
17: 64,834,453 (GRCm38) |
S52G |
probably null |
Het |
| Abcc2 |
T |
C |
19: 43,832,114 (GRCm38) |
S1351P |
probably benign |
Het |
| Acp2 |
T |
A |
2: 91,204,277 (GRCm38) |
L87Q |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,646,578 (GRCm38) |
T550K |
possibly damaging |
Het |
| AI314180 |
A |
G |
4: 58,844,191 (GRCm38) |
V525A |
probably damaging |
Het |
| Amotl2 |
A |
G |
9: 102,723,819 (GRCm38) |
R329G |
probably benign |
Het |
| Angel1 |
T |
C |
12: 86,721,875 (GRCm38) |
N278S |
probably damaging |
Het |
| Ankrd12 |
A |
C |
17: 65,970,324 (GRCm38) |
M1985R |
probably damaging |
Het |
| Apob |
T |
A |
12: 7,990,267 (GRCm38) |
F535I |
probably damaging |
Het |
| Art3 |
A |
G |
5: 92,411,143 (GRCm38) |
K313R |
probably benign |
Het |
| Asxl2 |
C |
T |
12: 3,501,872 (GRCm38) |
H1205Y |
possibly damaging |
Het |
| Bsph1 |
A |
T |
7: 13,472,995 (GRCm38) |
M99L |
probably benign |
Het |
| C330027C09Rik |
A |
G |
16: 49,014,070 (GRCm38) |
T672A |
probably benign |
Het |
| Ccdc153 |
T |
C |
9: 44,243,666 (GRCm38) |
|
probably null |
Het |
| Cdh16 |
A |
T |
8: 104,616,032 (GRCm38) |
M28K |
probably damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,718,539 (GRCm38) |
F353L |
probably damaging |
Het |
| Chrna2 |
G |
T |
14: 66,148,896 (GRCm38) |
V164L |
possibly damaging |
Het |
| Ckmt1 |
T |
C |
2: 121,361,231 (GRCm38) |
|
probably null |
Het |
| Col25a1 |
A |
T |
3: 130,519,781 (GRCm38) |
E280V |
possibly damaging |
Het |
| Dnajc12 |
A |
G |
10: 63,397,308 (GRCm38) |
D76G |
probably damaging |
Het |
| Drd3 |
G |
T |
16: 43,822,801 (GRCm38) |
E467* |
probably null |
Het |
| Ehbp1l1 |
C |
A |
19: 5,719,176 (GRCm38) |
A700S |
possibly damaging |
Het |
| Gab1 |
T |
C |
8: 80,789,053 (GRCm38) |
D212G |
possibly damaging |
Het |
| Gm21818 |
A |
T |
13: 120,173,637 (GRCm38) |
S152C |
possibly damaging |
Het |
| Gm26996 |
A |
G |
6: 130,580,171 (GRCm38) |
|
noncoding transcript |
Het |
| Gm28113 |
A |
G |
15: 75,326,728 (GRCm38) |
|
noncoding transcript |
Het |
| Has3 |
T |
C |
8: 106,878,086 (GRCm38) |
F308S |
probably damaging |
Het |
| Ifit3b |
T |
A |
19: 34,611,460 (GRCm38) |
I12N |
probably benign |
Het |
| Ifna4 |
C |
A |
4: 88,842,282 (GRCm38) |
T141K |
probably benign |
Het |
| Ints3 |
A |
G |
3: 90,393,777 (GRCm38) |
S840P |
probably damaging |
Het |
| Itih4 |
T |
C |
14: 30,889,835 (GRCm38) |
V132A |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,369,072 (GRCm38) |
Y51C |
probably damaging |
Het |
| Klk1b24 |
G |
A |
7: 44,190,396 (GRCm38) |
V60I |
probably damaging |
Het |
| Klra14-ps |
C |
A |
6: 130,157,663 (GRCm38) |
|
noncoding transcript |
Het |
| Krt6b |
A |
G |
15: 101,678,085 (GRCm38) |
I323T |
probably damaging |
Het |
| Lilra5 |
A |
C |
7: 4,237,958 (GRCm38) |
Q17P |
probably benign |
Het |
| Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,318,408 (GRCm38) |
|
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,232,964 (GRCm38) |
N1479S |
possibly damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,444,960 (GRCm38) |
I194F |
probably damaging |
Het |
| Megf10 |
T |
C |
18: 57,287,792 (GRCm38) |
I834T |
probably benign |
Het |
| Mterf4 |
G |
A |
1: 93,301,749 (GRCm38) |
T251M |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,507,634 (GRCm38) |
D170E |
probably damaging |
Het |
| Myom3 |
C |
T |
4: 135,807,275 (GRCm38) |
|
probably null |
Het |
| Nemp1 |
G |
A |
10: 127,694,593 (GRCm38) |
V305I |
probably benign |
Het |
| Nlrp1b |
G |
T |
11: 71,181,406 (GRCm38) |
T537K |
probably benign |
Het |
| Npdc1 |
G |
A |
2: 25,408,945 (GRCm38) |
D284N |
probably damaging |
Het |
| Olfr1066 |
A |
G |
2: 86,456,236 (GRCm38) |
F12L |
possibly damaging |
Het |
| Olfr1469 |
T |
A |
19: 13,411,105 (GRCm38) |
C179S |
probably damaging |
Het |
| Olfr776 |
A |
G |
10: 129,261,176 (GRCm38) |
T72A |
possibly damaging |
Het |
| Pias1 |
A |
G |
9: 62,920,489 (GRCm38) |
V212A |
probably damaging |
Het |
| Plscr1 |
T |
A |
9: 92,263,168 (GRCm38) |
V77D |
probably damaging |
Het |
| Plxna1 |
T |
C |
6: 89,322,816 (GRCm38) |
N1657S |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,212,217 (GRCm38) |
V1551A |
possibly damaging |
Het |
| Puf60 |
A |
T |
15: 76,072,334 (GRCm38) |
|
probably null |
Het |
| Rnf20 |
C |
T |
4: 49,654,579 (GRCm38) |
R879* |
probably null |
Het |
| Robo1 |
G |
A |
16: 72,972,043 (GRCm38) |
A499T |
probably damaging |
Het |
| Slc39a14 |
A |
G |
14: 70,313,599 (GRCm38) |
|
probably null |
Het |
| Smarcad1 |
A |
T |
6: 65,075,041 (GRCm38) |
H6L |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,336,451 (GRCm38) |
S10G |
possibly damaging |
Het |
| Ssfa2 |
T |
A |
2: 79,662,757 (GRCm38) |
I1216N |
probably damaging |
Het |
| Stk39 |
T |
A |
2: 68,263,303 (GRCm38) |
D488V |
probably damaging |
Het |
| Stx19 |
A |
G |
16: 62,822,132 (GRCm38) |
N104D |
probably benign |
Het |
| Tmem222 |
T |
C |
4: 133,277,664 (GRCm38) |
M21V |
probably benign |
Het |
| Trim43b |
T |
A |
9: 89,089,485 (GRCm38) |
N205I |
possibly damaging |
Het |
| Ubr4 |
C |
A |
4: 139,482,579 (GRCm38) |
H5017N |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,316,698 (GRCm38) |
T548A |
probably damaging |
Het |
| Vps8 |
G |
A |
16: 21,448,404 (GRCm38) |
|
probably null |
Het |
| Wasl |
A |
G |
6: 24,633,111 (GRCm38) |
V176A |
probably benign |
Het |
| Wbp2nl |
T |
A |
15: 82,306,054 (GRCm38) |
V61E |
probably damaging |
Het |
| Zfp959 |
T |
A |
17: 55,898,260 (GRCm38) |
|
probably null |
Het |
| Zmiz1 |
T |
C |
14: 25,643,674 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Ptprn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01695:Ptprn2
|
APN |
12 |
116,841,388 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01788:Ptprn2
|
APN |
12 |
116,900,987 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02172:Ptprn2
|
APN |
12 |
116,873,697 (GRCm38) |
splice site |
probably benign |
|
|
IGL02339:Ptprn2
|
APN |
12 |
116,722,104 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02706:Ptprn2
|
APN |
12 |
116,888,898 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03018:Ptprn2
|
APN |
12 |
117,211,943 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03267:Ptprn2
|
APN |
12 |
116,876,344 (GRCm38) |
nonsense |
probably null |
|
|
BB001:Ptprn2
|
UTSW |
12 |
116,841,264 (GRCm38) |
missense |
probably benign |
0.00 |
|
BB011:Ptprn2
|
UTSW |
12 |
116,841,264 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03014:Ptprn2
|
UTSW |
12 |
117,248,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0066:Ptprn2
|
UTSW |
12 |
117,276,602 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0066:Ptprn2
|
UTSW |
12 |
117,276,602 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0115:Ptprn2
|
UTSW |
12 |
117,211,846 (GRCm38) |
splice site |
probably benign |
|
|
R0131:Ptprn2
|
UTSW |
12 |
116,722,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0131:Ptprn2
|
UTSW |
12 |
116,722,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0132:Ptprn2
|
UTSW |
12 |
116,722,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0481:Ptprn2
|
UTSW |
12 |
117,211,846 (GRCm38) |
splice site |
probably benign |
|
|
R0694:Ptprn2
|
UTSW |
12 |
116,824,355 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0698:Ptprn2
|
UTSW |
12 |
116,722,130 (GRCm38) |
nonsense |
probably null |
|
|
R0746:Ptprn2
|
UTSW |
12 |
116,901,017 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1127:Ptprn2
|
UTSW |
12 |
117,212,008 (GRCm38) |
splice site |
probably null |
|
|
R1443:Ptprn2
|
UTSW |
12 |
117,253,615 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1508:Ptprn2
|
UTSW |
12 |
117,184,722 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1664:Ptprn2
|
UTSW |
12 |
117,161,709 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1670:Ptprn2
|
UTSW |
12 |
116,722,172 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R1749:Ptprn2
|
UTSW |
12 |
116,580,428 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2075:Ptprn2
|
UTSW |
12 |
117,247,717 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3054:Ptprn2
|
UTSW |
12 |
116,722,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3107:Ptprn2
|
UTSW |
12 |
116,876,180 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3109:Ptprn2
|
UTSW |
12 |
116,876,180 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3552:Ptprn2
|
UTSW |
12 |
116,888,877 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4193:Ptprn2
|
UTSW |
12 |
116,901,008 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4523:Ptprn2
|
UTSW |
12 |
116,876,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4706:Ptprn2
|
UTSW |
12 |
116,872,094 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4719:Ptprn2
|
UTSW |
12 |
116,824,396 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4872:Ptprn2
|
UTSW |
12 |
117,161,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4891:Ptprn2
|
UTSW |
12 |
117,233,365 (GRCm38) |
splice site |
probably null |
|
|
R4970:Ptprn2
|
UTSW |
12 |
117,276,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5208:Ptprn2
|
UTSW |
12 |
116,858,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5287:Ptprn2
|
UTSW |
12 |
117,211,862 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5419:Ptprn2
|
UTSW |
12 |
117,184,647 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6035:Ptprn2
|
UTSW |
12 |
117,255,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6035:Ptprn2
|
UTSW |
12 |
117,255,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6180:Ptprn2
|
UTSW |
12 |
116,859,119 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6277:Ptprn2
|
UTSW |
12 |
116,876,180 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6465:Ptprn2
|
UTSW |
12 |
117,269,589 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6488:Ptprn2
|
UTSW |
12 |
116,872,038 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6555:Ptprn2
|
UTSW |
12 |
117,227,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6908:Ptprn2
|
UTSW |
12 |
116,888,888 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7120:Ptprn2
|
UTSW |
12 |
116,872,056 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7229:Ptprn2
|
UTSW |
12 |
117,227,225 (GRCm38) |
splice site |
probably null |
|
|
R7237:Ptprn2
|
UTSW |
12 |
117,161,727 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7304:Ptprn2
|
UTSW |
12 |
117,248,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7355:Ptprn2
|
UTSW |
12 |
116,858,951 (GRCm38) |
missense |
probably benign |
|
|
R7460:Ptprn2
|
UTSW |
12 |
117,248,681 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7577:Ptprn2
|
UTSW |
12 |
116,485,866 (GRCm38) |
start codon destroyed |
probably null |
|
|
R7658:Ptprn2
|
UTSW |
12 |
116,722,119 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7666:Ptprn2
|
UTSW |
12 |
116,841,320 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7924:Ptprn2
|
UTSW |
12 |
116,841,264 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8219:Ptprn2
|
UTSW |
12 |
117,184,737 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8716:Ptprn2
|
UTSW |
12 |
117,255,548 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R9235:Ptprn2
|
UTSW |
12 |
117,269,651 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9605:Ptprn2
|
UTSW |
12 |
117,161,658 (GRCm38) |
missense |
probably benign |
0.13 |
|
X0066:Ptprn2
|
UTSW |
12 |
117,184,740 (GRCm38) |
missense |
probably benign |
0.16 |
|
X0066:Ptprn2
|
UTSW |
12 |
117,161,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTGTGCAGGATCTAAGG -3'
(R):5'- TCCCTAACTAGGTTGCAGTGTAAGG -3'
Sequencing Primer
(F):5'- TCCTCAGGAGTGGGATATTGGAGAC -3'
(R):5'- TAAGGCACTGGCTCTCTTGGC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation