Incidental Mutation 'R0131:Ptprn2'
ID |
68308 |
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 |
038416-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R0131 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 116685711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 57
(F57V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139978
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
AlphaFold |
P80560 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070733
AA Change: F57V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000064046 Gene: ENSMUSG00000056553 AA Change: F57V
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 damaging
Transcript: ENSMUST00000190247
AA Change: F57V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139978 Gene: ENSMUSG00000056553 AA Change: F57V
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
|
Meta Mutation Damage Score |
0.2904 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
G |
8: 87,258,197 (GRCm39) |
I773T |
probably benign |
Het |
Adamtsl1 |
T |
A |
4: 86,260,960 (GRCm39) |
I1057N |
possibly damaging |
Het |
Anxa5 |
G |
A |
3: 36,504,821 (GRCm39) |
A247V |
probably damaging |
Het |
Ascc3 |
T |
G |
10: 50,611,425 (GRCm39) |
W1589G |
probably damaging |
Het |
Atp2b2 |
G |
A |
6: 113,770,743 (GRCm39) |
P389S |
probably damaging |
Het |
Bpifa6 |
T |
A |
2: 153,824,851 (GRCm39) |
S9T |
probably benign |
Het |
Cfhr4 |
T |
A |
1: 139,682,009 (GRCm39) |
T196S |
probably damaging |
Het |
Chd8 |
A |
G |
14: 52,442,783 (GRCm39) |
V589A |
probably benign |
Het |
Chrnb2 |
T |
C |
3: 89,671,713 (GRCm39) |
M1V |
probably null |
Het |
Col16a1 |
T |
A |
4: 129,960,889 (GRCm39) |
V449E |
unknown |
Het |
Cttnbp2nl |
T |
G |
3: 104,913,173 (GRCm39) |
K237T |
probably damaging |
Het |
Dazap1 |
T |
G |
10: 80,114,060 (GRCm39) |
|
probably null |
Het |
Fam187b |
T |
A |
7: 30,688,545 (GRCm39) |
V22E |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,164,037 (GRCm39) |
S3073T |
probably benign |
Het |
Fcgbpl1 |
A |
G |
7: 27,837,040 (GRCm39) |
R320G |
probably damaging |
Het |
Gm16069 |
T |
C |
3: 89,088,232 (GRCm39) |
|
probably benign |
Het |
H2-T24 |
T |
A |
17: 36,325,878 (GRCm39) |
I238F |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,471,087 (GRCm39) |
E2658G |
probably benign |
Het |
Herc1 |
A |
C |
9: 66,388,192 (GRCm39) |
I3826L |
probably benign |
Het |
Hinfp |
A |
G |
9: 44,211,060 (GRCm39) |
C67R |
probably damaging |
Het |
Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,279,198 (GRCm39) |
Y3094H |
probably damaging |
Het |
Htr1f |
A |
G |
16: 64,747,091 (GRCm39) |
V67A |
probably damaging |
Het |
Iqcc |
T |
G |
4: 129,510,392 (GRCm39) |
E374D |
probably damaging |
Het |
Kcnj9 |
T |
C |
1: 172,153,765 (GRCm39) |
T120A |
probably damaging |
Het |
Kif3a |
A |
G |
11: 53,477,743 (GRCm39) |
K404R |
possibly damaging |
Het |
Kitl |
C |
T |
10: 99,923,226 (GRCm39) |
P208S |
probably benign |
Het |
Lpcat4 |
A |
G |
2: 112,077,093 (GRCm39) |
Y479C |
probably damaging |
Het |
Lrrc74b |
T |
C |
16: 17,371,016 (GRCm39) |
N227S |
probably damaging |
Het |
Mdc1 |
T |
A |
17: 36,163,473 (GRCm39) |
V1007D |
probably damaging |
Het |
Mocos |
T |
G |
18: 24,812,819 (GRCm39) |
I571S |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,183,014 (GRCm39) |
N659D |
probably damaging |
Het |
Naip2 |
A |
G |
13: 100,320,296 (GRCm39) |
V240A |
probably benign |
Het |
Nap1l1 |
T |
C |
10: 111,321,370 (GRCm39) |
S37P |
probably benign |
Het |
Nin |
T |
G |
12: 70,097,915 (GRCm39) |
K515T |
probably damaging |
Het |
Npl |
T |
A |
1: 153,384,864 (GRCm39) |
K258* |
probably null |
Het |
Ntn4 |
T |
A |
10: 93,480,569 (GRCm39) |
S98T |
possibly damaging |
Het |
Or10x1 |
T |
C |
1: 174,197,152 (GRCm39) |
V223A |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or5k14 |
C |
A |
16: 58,693,269 (GRCm39) |
M81I |
probably benign |
Het |
Or8u10 |
T |
C |
2: 85,915,844 (GRCm39) |
I92M |
probably damaging |
Het |
Pkp2 |
T |
C |
16: 16,058,577 (GRCm39) |
|
probably benign |
Het |
Ppox |
C |
A |
1: 171,106,849 (GRCm39) |
A192S |
possibly damaging |
Het |
Prkdc |
T |
C |
16: 15,531,517 (GRCm39) |
L1380S |
probably benign |
Het |
Psd4 |
C |
A |
2: 24,295,363 (GRCm39) |
A839E |
probably damaging |
Het |
Ptprt |
C |
T |
2: 162,120,030 (GRCm39) |
V146I |
probably benign |
Het |
R3hdm2 |
T |
A |
10: 127,334,322 (GRCm39) |
M915K |
probably damaging |
Het |
Rab26 |
C |
T |
17: 24,749,759 (GRCm39) |
|
probably null |
Het |
Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
Rprd2 |
T |
C |
3: 95,681,673 (GRCm39) |
K407E |
probably damaging |
Het |
Siah3 |
G |
A |
14: 75,693,574 (GRCm39) |
V27I |
possibly damaging |
Het |
Slc14a2 |
T |
A |
18: 78,235,338 (GRCm39) |
N280Y |
probably damaging |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slc25a35 |
A |
G |
11: 68,862,786 (GRCm39) |
Y247C |
probably damaging |
Het |
Slc29a4 |
A |
G |
5: 142,691,285 (GRCm39) |
D55G |
probably benign |
Het |
Slc35d1 |
C |
T |
4: 103,065,378 (GRCm39) |
V189I |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,067,884 (GRCm39) |
R322* |
probably null |
Het |
Stac3 |
A |
T |
10: 127,339,519 (GRCm39) |
R138S |
probably damaging |
Het |
Tbc1d9b |
T |
C |
11: 50,026,751 (GRCm39) |
I73T |
probably benign |
Het |
Tgtp1 |
A |
G |
11: 48,878,159 (GRCm39) |
F182S |
probably benign |
Het |
Tmcc3 |
T |
C |
10: 94,381,437 (GRCm39) |
|
probably benign |
Het |
Tmem116 |
A |
G |
5: 121,631,845 (GRCm39) |
|
probably benign |
Het |
Tmem260 |
T |
A |
14: 48,720,779 (GRCm39) |
C306* |
probably null |
Het |
Tspyl1 |
A |
G |
10: 34,159,085 (GRCm39) |
N270S |
probably damaging |
Het |
Tusc1 |
A |
T |
4: 93,223,070 (GRCm39) |
H196Q |
probably benign |
Het |
Ugt2a1 |
T |
A |
5: 87,622,720 (GRCm39) |
K293* |
probably null |
Het |
Vmn2r102 |
A |
C |
17: 19,899,025 (GRCm39) |
T456P |
probably benign |
Het |
Vmn2r90 |
T |
A |
17: 17,932,511 (GRCm39) |
S139R |
probably benign |
Het |
Zfp879 |
C |
A |
11: 50,724,426 (GRCm39) |
G210V |
probably damaging |
Het |
Zmym2 |
A |
G |
14: 57,180,715 (GRCm39) |
N876D |
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 |
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 |
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'- AATTCACCATGCCAGGGCCATAG -3'
(R):5'- GCCTTTCTTACTACAGGCCATGCAG -3'
Sequencing Primer
(F):5'- CAGGGCCATAGTCCCATTC -3'
(R):5'- GGCCTCACCTGGACACC -3'
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Posted On |
2013-09-03 |