Incidental Mutation 'R8219:Ptprn2'
ID |
636574 |
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 |
067659-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R8219 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116449340-117240469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 117148357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 706
(Q706K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070733]
[ENSMUST00000190247]
|
AlphaFold |
P80560 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070733
AA Change: Q706K
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000064046 Gene: ENSMUSG00000056553 AA Change: Q706K
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: Q706K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139978 Gene: ENSMUSG00000056553 AA Change: Q706K
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 |
0.1734 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.7%
|
Validation Efficiency |
100% (62/62) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933414I15Rik |
A |
T |
11: 50,833,363 (GRCm39) |
S80T |
unknown |
Het |
Acnat1 |
T |
A |
4: 49,447,748 (GRCm39) |
I278F |
probably benign |
Het |
Adgrf5 |
A |
T |
17: 43,760,750 (GRCm39) |
Q815L |
probably benign |
Het |
Aff1 |
T |
A |
5: 103,994,199 (GRCm39) |
Y1022N |
probably damaging |
Het |
Ahi1 |
A |
G |
10: 20,950,335 (GRCm39) |
K1034E |
probably benign |
Het |
Ano8 |
A |
T |
8: 71,933,357 (GRCm39) |
L645Q |
unknown |
Het |
Atg9b |
A |
G |
5: 24,591,330 (GRCm39) |
L756P |
probably damaging |
Het |
Atp2b2 |
A |
T |
6: 113,770,811 (GRCm39) |
I411N |
probably damaging |
Het |
Bmp6 |
T |
A |
13: 38,529,963 (GRCm39) |
C19S |
unknown |
Het |
Borcs5 |
A |
G |
6: 134,621,313 (GRCm39) |
H27R |
probably benign |
Het |
Cachd1 |
C |
A |
4: 100,848,159 (GRCm39) |
D1091E |
probably benign |
Het |
Ccdc186 |
T |
A |
19: 56,781,777 (GRCm39) |
M801L |
probably benign |
Het |
Clcn3 |
A |
T |
8: 61,376,000 (GRCm39) |
M658K |
probably damaging |
Het |
Col1a1 |
C |
T |
11: 94,834,184 (GRCm39) |
R500C |
probably damaging |
Het |
Cul4a |
T |
A |
8: 13,196,540 (GRCm39) |
D731E |
possibly damaging |
Het |
Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
E2f7 |
T |
A |
10: 110,595,704 (GRCm39) |
V133E |
probably damaging |
Het |
Fam161b |
T |
C |
12: 84,393,648 (GRCm39) |
E575G |
probably benign |
Het |
Fubp1 |
T |
A |
3: 151,926,103 (GRCm39) |
V275D |
probably damaging |
Het |
Gabrg1 |
T |
A |
5: 70,931,643 (GRCm39) |
R367* |
probably null |
Het |
Gm6902 |
G |
A |
7: 22,973,143 (GRCm39) |
A128V |
probably benign |
Het |
Gnptab |
A |
G |
10: 88,269,654 (GRCm39) |
T786A |
probably benign |
Het |
Golga2 |
A |
G |
2: 32,196,492 (GRCm39) |
N981D |
probably damaging |
Het |
Gsap |
A |
T |
5: 21,456,113 (GRCm39) |
I437L |
probably benign |
Het |
Gulp1 |
A |
G |
1: 44,793,501 (GRCm39) |
|
probably null |
Het |
Kcnn1 |
T |
C |
8: 71,305,499 (GRCm39) |
Y237C |
probably damaging |
Het |
Klhl28 |
A |
T |
12: 64,998,431 (GRCm39) |
N354K |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,572,417 (GRCm39) |
Y541H |
probably benign |
Het |
Lamc1 |
A |
G |
1: 153,123,073 (GRCm39) |
Y706H |
probably damaging |
Het |
Lima1 |
G |
T |
15: 99,678,671 (GRCm39) |
T590K |
probably damaging |
Het |
Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
Mrgprb8 |
G |
A |
7: 48,038,649 (GRCm39) |
V107M |
possibly damaging |
Het |
Mrpl3 |
T |
A |
9: 104,934,271 (GRCm39) |
N139K |
possibly damaging |
Het |
Nhsl3 |
T |
A |
4: 129,141,946 (GRCm39) |
D65V |
possibly damaging |
Het |
Nudt16 |
T |
A |
9: 105,007,636 (GRCm39) |
N161I |
probably damaging |
Het |
Obscn |
G |
A |
11: 59,013,574 (GRCm39) |
S1091L |
probably benign |
Het |
Oog4 |
T |
C |
4: 143,166,508 (GRCm39) |
M99V |
probably benign |
Het |
Or5b105 |
A |
C |
19: 13,080,284 (GRCm39) |
L122R |
probably damaging |
Het |
Or8c16 |
A |
C |
9: 38,130,668 (GRCm39) |
D183A |
probably damaging |
Het |
Osbpl6 |
A |
T |
2: 76,386,247 (GRCm39) |
D303V |
probably damaging |
Het |
Pcdhb21 |
T |
C |
18: 37,647,708 (GRCm39) |
F279S |
probably damaging |
Het |
Peg3 |
G |
A |
7: 6,711,364 (GRCm39) |
T1286I |
probably benign |
Het |
Phax |
A |
G |
18: 56,708,754 (GRCm39) |
N106S |
probably damaging |
Het |
Pkdrej |
A |
G |
15: 85,705,493 (GRCm39) |
Y148H |
probably damaging |
Het |
Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
Rdh11 |
T |
G |
12: 79,235,880 (GRCm39) |
K23Q |
probably benign |
Het |
Rit2 |
T |
A |
18: 31,108,547 (GRCm39) |
E146V |
probably damaging |
Het |
Rnf141 |
T |
C |
7: 110,436,472 (GRCm39) |
|
probably benign |
Het |
Sars1 |
T |
A |
3: 108,352,378 (GRCm39) |
E24V |
probably benign |
Het |
Sh3tc2 |
A |
G |
18: 62,144,932 (GRCm39) |
I1129V |
probably benign |
Het |
Slc10a5 |
G |
T |
3: 10,400,384 (GRCm39) |
P92Q |
probably benign |
Het |
Slc24a5 |
A |
T |
2: 124,927,575 (GRCm39) |
|
probably null |
Het |
Slc5a8 |
A |
G |
10: 88,757,561 (GRCm39) |
Y517C |
probably damaging |
Het |
Slc6a5 |
A |
G |
7: 49,561,911 (GRCm39) |
M148V |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,952,857 (GRCm39) |
|
probably null |
Het |
Tgm4 |
A |
T |
9: 122,874,117 (GRCm39) |
Y119F |
probably benign |
Het |
Tgm6 |
A |
G |
2: 129,993,200 (GRCm39) |
K562R |
probably benign |
Het |
Tlr3 |
T |
C |
8: 45,851,016 (GRCm39) |
E627G |
possibly damaging |
Het |
Tmprss11f |
A |
G |
5: 86,677,878 (GRCm39) |
L297P |
probably damaging |
Het |
Tpbgl |
T |
C |
7: 99,274,978 (GRCm39) |
H293R |
probably benign |
Het |
Trank1 |
A |
C |
9: 111,193,977 (GRCm39) |
K667T |
probably damaging |
Het |
Trpm1 |
A |
T |
7: 63,851,699 (GRCm39) |
Q139L |
probably benign |
Het |
Ttf2 |
T |
G |
3: 100,869,879 (GRCm39) |
K398T |
possibly damaging |
Het |
Xpa |
A |
T |
4: 46,183,150 (GRCm39) |
M213K |
probably benign |
Het |
Zmym2 |
T |
A |
14: 57,163,316 (GRCm39) |
S623T |
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 |
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'- GCTTGCAGTTCTGTAGGATCAC -3'
(R):5'- TTCCAAGGTTAGGGAGCAGC -3'
Sequencing Primer
(F):5'- GAAGGCTAACTGATCCCTTGACTG -3'
(R):5'- GTTAGGGAGCAGCTGACAG -3'
|
Posted On |
2020-07-13 |