Incidental Mutation 'R7304:Ptprn2'
ID |
567186 |
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 |
045365-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R7304 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 117212164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 862
(V862D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
AlphaFold |
P80560 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070733
AA Change: V862D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064046 Gene: ENSMUSG00000056553 AA Change: V862D
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 damaging
Transcript: ENSMUST00000190247
AA Change: V862D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139978 Gene: ENSMUSG00000056553 AA Change: V862D
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: 98.9%
|
Validation Efficiency |
100% (66/66) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,247,203 (GRCm39) |
S2317G |
probably benign |
Het |
Acap2 |
A |
C |
16: 30,926,934 (GRCm39) |
L502R |
probably benign |
Het |
Amotl2 |
A |
G |
9: 102,605,549 (GRCm39) |
E467G |
probably damaging |
Het |
Apbb1ip |
A |
T |
2: 22,743,147 (GRCm39) |
|
probably null |
Het |
Armc9 |
C |
G |
1: 86,090,437 (GRCm39) |
D77E |
probably benign |
Het |
Art1 |
T |
A |
7: 101,755,531 (GRCm39) |
S8T |
possibly damaging |
Het |
Asic5 |
G |
A |
3: 81,916,872 (GRCm39) |
A321T |
possibly damaging |
Het |
Astn2 |
A |
G |
4: 66,103,612 (GRCm39) |
I267T |
unknown |
Het |
Bmp8a |
T |
C |
4: 123,236,182 (GRCm39) |
N107S |
probably benign |
Het |
Card14 |
T |
A |
11: 119,228,573 (GRCm39) |
L633Q |
probably damaging |
Het |
Chpf |
C |
T |
1: 75,455,698 (GRCm39) |
V18M |
possibly damaging |
Het |
Cog7 |
T |
C |
7: 121,536,362 (GRCm39) |
I493V |
probably benign |
Het |
Col3a1 |
A |
T |
1: 45,386,971 (GRCm39) |
N1394I |
unknown |
Het |
Crybg1 |
C |
T |
10: 43,873,254 (GRCm39) |
D1285N |
probably benign |
Het |
Depdc7 |
A |
G |
2: 104,553,463 (GRCm39) |
V395A |
possibly damaging |
Het |
Dido1 |
G |
A |
2: 180,329,286 (GRCm39) |
L379F |
probably damaging |
Het |
Dnajc13 |
G |
T |
9: 104,115,713 (GRCm39) |
T32N |
probably benign |
Het |
Dok2 |
T |
A |
14: 71,013,468 (GRCm39) |
S133R |
probably benign |
Het |
Ehbp1l1 |
C |
T |
19: 5,766,410 (GRCm39) |
R1311H |
probably damaging |
Het |
Gm3099 |
A |
T |
14: 15,346,488 (GRCm39) |
N118I |
probably damaging |
Het |
Gtse1 |
A |
G |
15: 85,755,748 (GRCm39) |
T471A |
probably benign |
Het |
Heg1 |
G |
A |
16: 33,581,160 (GRCm39) |
A13T |
possibly damaging |
Het |
Ifi209 |
A |
T |
1: 173,470,156 (GRCm39) |
Y248F |
possibly damaging |
Het |
Irag1 |
T |
C |
7: 110,498,931 (GRCm39) |
T367A |
possibly damaging |
Het |
Itgb3bp |
C |
G |
4: 99,657,758 (GRCm39) |
E169Q |
probably damaging |
Het |
Kcna2 |
A |
G |
3: 107,012,066 (GRCm39) |
T216A |
probably benign |
Het |
Kcnj6 |
A |
T |
16: 94,742,042 (GRCm39) |
M10K |
probably benign |
Het |
Krt17 |
T |
G |
11: 100,148,163 (GRCm39) |
Q397P |
probably benign |
Het |
Lrtm1 |
T |
A |
14: 28,744,075 (GRCm39) |
M181K |
probably damaging |
Het |
Map3k5 |
A |
G |
10: 19,975,301 (GRCm39) |
H741R |
probably damaging |
Het |
Mier1 |
T |
A |
4: 102,996,599 (GRCm39) |
Y120* |
probably null |
Het |
Myh14 |
T |
A |
7: 44,279,415 (GRCm39) |
T922S |
probably benign |
Het |
Nfkbie |
A |
T |
17: 45,871,067 (GRCm39) |
I240F |
possibly damaging |
Het |
Npas3 |
C |
A |
12: 54,115,824 (GRCm39) |
H915Q |
probably damaging |
Het |
Nrg2 |
A |
T |
18: 36,178,994 (GRCm39) |
V314E |
probably benign |
Het |
Or2z9 |
T |
A |
8: 72,854,190 (GRCm39) |
Y195* |
probably null |
Het |
Pds5a |
T |
C |
5: 65,777,077 (GRCm39) |
N28S |
probably damaging |
Het |
Pira1 |
T |
C |
7: 3,740,493 (GRCm39) |
T243A |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,361,878 (GRCm39) |
N517I |
possibly damaging |
Het |
Plekhb1 |
T |
C |
7: 100,294,874 (GRCm39) |
Y99C |
probably benign |
Het |
Plpp6 |
T |
C |
19: 28,941,617 (GRCm39) |
S73P |
probably benign |
Het |
Polb |
T |
C |
8: 23,129,975 (GRCm39) |
N199S |
probably benign |
Het |
Ppp1r13b |
T |
C |
12: 111,838,840 (GRCm39) |
N13D |
possibly damaging |
Het |
Prorp |
A |
G |
12: 55,351,429 (GRCm39) |
D246G |
probably damaging |
Het |
Rassf4 |
T |
C |
6: 116,617,278 (GRCm39) |
I242M |
probably damaging |
Het |
Rnf19a |
G |
A |
15: 36,254,598 (GRCm39) |
T320I |
probably damaging |
Het |
Sctr |
A |
T |
1: 119,949,970 (GRCm39) |
E53V |
probably damaging |
Het |
Srcin1 |
T |
C |
11: 97,442,519 (GRCm39) |
D103G |
probably benign |
Het |
St3gal3 |
T |
C |
4: 117,814,633 (GRCm39) |
Q220R |
|
Het |
Stk40 |
G |
A |
4: 126,019,483 (GRCm39) |
E86K |
probably benign |
Het |
Tas2r104 |
T |
A |
6: 131,662,005 (GRCm39) |
I235F |
possibly damaging |
Het |
Terf2ip |
T |
C |
8: 112,738,280 (GRCm39) |
V56A |
possibly damaging |
Het |
Thsd7b |
A |
G |
1: 130,030,890 (GRCm39) |
N1075S |
probably benign |
Het |
Trak1 |
A |
G |
9: 121,245,278 (GRCm39) |
Y51C |
probably benign |
Het |
Trav16n |
T |
A |
14: 53,588,859 (GRCm39) |
V45E |
probably benign |
Het |
Ttc6 |
T |
C |
12: 57,622,837 (GRCm39) |
S79P |
probably damaging |
Het |
Unc79 |
C |
T |
12: 103,029,449 (GRCm39) |
T484M |
probably damaging |
Het |
Usp49 |
T |
C |
17: 47,983,796 (GRCm39) |
V267A |
possibly damaging |
Het |
Vldlr |
T |
A |
19: 27,216,004 (GRCm39) |
D305E |
possibly damaging |
Het |
Vmn1r226 |
G |
T |
17: 20,908,011 (GRCm39) |
C81F |
probably damaging |
Het |
Vmn1r73 |
T |
C |
7: 11,490,824 (GRCm39) |
V214A |
probably damaging |
Het |
Vmn2r5 |
T |
C |
3: 64,411,671 (GRCm39) |
N299S |
probably damaging |
Het |
Vwa3b |
T |
C |
1: 37,203,586 (GRCm39) |
L55S |
probably damaging |
Het |
Wdr90 |
T |
C |
17: 26,070,480 (GRCm39) |
D1105G |
probably benign |
Het |
Zbtb38 |
A |
G |
9: 96,569,480 (GRCm39) |
S535P |
probably damaging |
Het |
Zfp329 |
T |
C |
7: 12,544,826 (GRCm39) |
I233V |
probably damaging |
Het |
Zfp579 |
T |
A |
7: 4,997,582 (GRCm39) |
T110S |
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 |
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'- TGTGTCCCCTGATCTAAACCAG -3'
(R):5'- CAAAACCTGAGAGACCTGGC -3'
Sequencing Primer
(F):5'- CCAGCTAAACTCAGAGCAGAGG -3'
(R):5'- TAGTCGCTACAGTCTGCAGCATG -3'
|
Posted On |
2019-06-26 |