Incidental Mutation 'R9235:Ptprn2'
ID |
700443 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R9235 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 117233271 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
AlphaFold |
P80560 |
Predicted Effect |
probably null
Transcript: ENSMUST00000070733
|
SMART Domains |
Protein: ENSMUSP00000064046 Gene: ENSMUSG00000056553
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 |
probably benign
Transcript: ENSMUST00000190247
|
SMART Domains |
Protein: ENSMUSP00000139978 Gene: ENSMUSG00000056553
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (59/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,623,518 (GRCm39) |
I76N |
possibly damaging |
Het |
4930558K02Rik |
T |
C |
1: 161,780,172 (GRCm39) |
H114R |
possibly damaging |
Het |
C2 |
T |
C |
17: 35,083,845 (GRCm39) |
D414G |
probably damaging |
Het |
Catsper4 |
C |
T |
4: 133,954,606 (GRCm39) |
D15N |
probably benign |
Het |
Ccnb2 |
A |
G |
9: 70,318,163 (GRCm39) |
V203A |
probably damaging |
Het |
Cd2 |
A |
G |
3: 101,195,159 (GRCm39) |
F13L |
probably benign |
Het |
Cwf19l1 |
G |
A |
19: 44,113,275 (GRCm39) |
A227V |
probably damaging |
Het |
Dis3l2 |
G |
A |
1: 86,749,061 (GRCm39) |
D176N |
possibly damaging |
Het |
Dmpk |
T |
G |
7: 18,822,141 (GRCm39) |
N366K |
probably damaging |
Het |
Dnajb12 |
C |
T |
10: 59,728,799 (GRCm39) |
T229I |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,907,987 (GRCm39) |
D4479G |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,833,674 (GRCm39) |
E126V |
probably null |
Het |
Fbxo27 |
T |
A |
7: 28,397,756 (GRCm39) |
Y264* |
probably null |
Het |
Fign |
A |
G |
2: 63,810,907 (GRCm39) |
M121T |
probably damaging |
Het |
Flt3 |
T |
C |
5: 147,320,202 (GRCm39) |
Y54C |
possibly damaging |
Het |
Frmd4a |
G |
A |
2: 4,599,366 (GRCm39) |
R460H |
probably damaging |
Het |
Igkv4-53 |
A |
T |
6: 69,626,301 (GRCm39) |
I13N |
possibly damaging |
Het |
Islr |
T |
A |
9: 58,064,944 (GRCm39) |
I188F |
possibly damaging |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Klra3 |
A |
T |
6: 130,311,218 (GRCm39) |
C54* |
probably null |
Het |
Klrb1b |
A |
G |
6: 128,795,547 (GRCm39) |
F140S |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,504,997 (GRCm39) |
E3437G |
probably damaging |
Het |
Mdn1 |
C |
A |
4: 32,739,122 (GRCm39) |
L3648I |
probably benign |
Het |
Mlxipl |
C |
A |
5: 135,157,541 (GRCm39) |
T359K |
possibly damaging |
Het |
Morc3 |
T |
C |
16: 93,659,321 (GRCm39) |
W410R |
probably damaging |
Het |
Mrpl49 |
G |
A |
19: 6,105,147 (GRCm39) |
R105* |
probably null |
Het |
Myom3 |
T |
A |
4: 135,541,653 (GRCm39) |
Y1415N |
probably damaging |
Het |
Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
Nrap |
A |
T |
19: 56,330,760 (GRCm39) |
Y1100* |
probably null |
Het |
Or14a257 |
A |
T |
7: 86,138,306 (GRCm39) |
V151E |
probably benign |
Het |
Or5d43 |
A |
T |
2: 88,104,724 (GRCm39) |
I223N |
probably damaging |
Het |
Or5t5 |
T |
C |
2: 86,616,548 (GRCm39) |
I158T |
probably benign |
Het |
Or6c8b |
G |
T |
10: 128,882,051 (GRCm39) |
Q294K |
probably benign |
Het |
Pank1 |
C |
A |
19: 34,856,197 (GRCm39) |
A94S |
probably benign |
Het |
Pikfyve |
C |
A |
1: 65,299,188 (GRCm39) |
T1613K |
probably benign |
Het |
Plbd2 |
T |
A |
5: 120,626,554 (GRCm39) |
I352L |
probably benign |
Het |
Plec |
T |
C |
15: 76,059,701 (GRCm39) |
D3412G |
probably damaging |
Het |
Plekhd1 |
T |
A |
12: 80,768,791 (GRCm39) |
Y425N |
possibly damaging |
Het |
Plscr5 |
A |
G |
9: 92,086,417 (GRCm39) |
N129S |
possibly damaging |
Het |
Prkdc |
T |
A |
16: 15,651,751 (GRCm39) |
M3796K |
probably damaging |
Het |
Psme3 |
A |
T |
11: 101,211,594 (GRCm39) |
E213D |
possibly damaging |
Het |
Sema5a |
A |
G |
15: 32,619,034 (GRCm39) |
S521G |
probably benign |
Het |
Slc34a2 |
A |
T |
5: 53,226,667 (GRCm39) |
M597L |
probably benign |
Het |
Slc6a13 |
A |
G |
6: 121,301,984 (GRCm39) |
R189G |
probably damaging |
Het |
Smyd4 |
G |
A |
11: 75,295,689 (GRCm39) |
E782K |
probably benign |
Het |
Sspo |
T |
A |
6: 48,466,718 (GRCm39) |
C4078S |
probably damaging |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
Ttc21a |
G |
T |
9: 119,774,559 (GRCm39) |
R271L |
probably benign |
Het |
Ubr5 |
A |
G |
15: 38,045,982 (GRCm39) |
L114P |
|
Het |
Ugt1a2 |
A |
G |
1: 88,128,488 (GRCm39) |
R44G |
possibly damaging |
Het |
Ulk4 |
G |
A |
9: 120,981,217 (GRCm39) |
T907I |
probably benign |
Het |
Unc13a |
G |
T |
8: 72,115,912 (GRCm39) |
L97I |
probably benign |
Het |
Uqcc6 |
A |
T |
10: 82,458,586 (GRCm39) |
C22S |
possibly damaging |
Het |
Vmn1r25 |
A |
G |
6: 57,955,488 (GRCm39) |
L267P |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,810,238 (GRCm39) |
N341K |
probably damaging |
Het |
Wdr3 |
T |
A |
3: 100,054,023 (GRCm39) |
Q534L |
probably benign |
Het |
Zfp28 |
A |
T |
7: 6,397,605 (GRCm39) |
H680L |
probably damaging |
Het |
Zfp986 |
T |
A |
4: 145,625,759 (GRCm39) |
F140I |
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 |
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 |
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'- CCAAGCTGCTGAAGGATGAGTG -3'
(R):5'- GCACAGTGATGAATCTCTTGGG -3'
Sequencing Primer
(F):5'- GAGTGTAATAATTTTCAATTGGCCTC -3'
(R):5'- TGAATCTCTTGGGAACAGCC -3'
|
Posted On |
2022-02-07 |