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 |
phogrin, 4930425H11Rik, IA-2 beta, PTP-NP, IA-2beta |
| MMRRC Submission |
067659-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R8219 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116485720-117276849 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 117184737 bp (GRCm38)
|
| 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: 50,942,536 (GRCm38) |
S80T |
unknown |
Het |
| Acnat1 |
T |
A |
4: 49,447,748 (GRCm38) |
I278F |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,449,859 (GRCm38) |
Q815L |
probably benign |
Het |
| Aff1 |
T |
A |
5: 103,846,333 (GRCm38) |
Y1022N |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 21,074,436 (GRCm38) |
K1034E |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,480,713 (GRCm38) |
L645Q |
unknown |
Het |
| Atg9b |
A |
G |
5: 24,386,332 (GRCm38) |
L756P |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,793,850 (GRCm38) |
I411N |
probably damaging |
Het |
| BC080695 |
T |
G |
4: 143,571,960 (GRCm38) |
Y158D |
probably benign |
Het |
| Bmp6 |
T |
A |
13: 38,345,987 (GRCm38) |
C19S |
unknown |
Het |
| Borcs5 |
A |
G |
6: 134,644,350 (GRCm38) |
H27R |
probably benign |
Het |
| C77080 |
T |
A |
4: 129,248,153 (GRCm38) |
D65V |
possibly damaging |
Het |
| Cachd1 |
C |
A |
4: 100,990,962 (GRCm38) |
D1091E |
probably benign |
Het |
| Ccdc186 |
T |
A |
19: 56,793,345 (GRCm38) |
M801L |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 60,922,966 (GRCm38) |
M658K |
probably damaging |
Het |
| Col1a1 |
C |
T |
11: 94,943,358 (GRCm38) |
R500C |
probably damaging |
Het |
| Cul4a |
T |
A |
8: 13,146,540 (GRCm38) |
D731E |
possibly damaging |
Het |
| Dnajb8 |
C |
T |
6: 88,222,958 (GRCm38) |
R159C |
possibly damaging |
Het |
| E2f7 |
T |
A |
10: 110,759,843 (GRCm38) |
V133E |
probably damaging |
Het |
| Fam161b |
T |
C |
12: 84,346,874 (GRCm38) |
E575G |
probably benign |
Het |
| Fubp1 |
T |
A |
3: 152,220,466 (GRCm38) |
V275D |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,774,300 (GRCm38) |
R367* |
probably null |
Het |
| Gm6902 |
G |
A |
7: 23,273,718 (GRCm38) |
A128V |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,433,792 (GRCm38) |
T786A |
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,306,480 (GRCm38) |
N981D |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,251,115 (GRCm38) |
I437L |
probably benign |
Het |
| Gulp1 |
A |
G |
1: 44,754,341 (GRCm38) |
|
probably null |
Het |
| Kcnn1 |
T |
C |
8: 70,852,855 (GRCm38) |
Y237C |
probably damaging |
Het |
| Klhl28 |
A |
T |
12: 64,951,657 (GRCm38) |
N354K |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,439,360 (GRCm38) |
Y541H |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,247,327 (GRCm38) |
Y706H |
probably damaging |
Het |
| Lima1 |
G |
T |
15: 99,780,790 (GRCm38) |
T590K |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,350,733 (GRCm38) |
G189R |
probably damaging |
Het |
| Mrgprb8 |
G |
A |
7: 48,388,901 (GRCm38) |
V107M |
possibly damaging |
Het |
| Mrpl3 |
T |
A |
9: 105,057,072 (GRCm38) |
N139K |
possibly damaging |
Het |
| Nudt16 |
T |
A |
9: 105,130,437 (GRCm38) |
N161I |
probably damaging |
Het |
| Obscn |
G |
A |
11: 59,122,748 (GRCm38) |
S1091L |
probably benign |
Het |
| Olfr1458 |
A |
C |
19: 13,102,920 (GRCm38) |
L122R |
probably damaging |
Het |
| Olfr894 |
A |
C |
9: 38,219,372 (GRCm38) |
D183A |
probably damaging |
Het |
| Oog4 |
T |
C |
4: 143,439,938 (GRCm38) |
M99V |
probably benign |
Het |
| Osbpl6 |
A |
T |
2: 76,555,903 (GRCm38) |
D303V |
probably damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,514,655 (GRCm38) |
F279S |
probably damaging |
Het |
| Peg3 |
G |
A |
7: 6,708,365 (GRCm38) |
T1286I |
probably benign |
Het |
| Phax |
A |
G |
18: 56,575,682 (GRCm38) |
N106S |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,821,292 (GRCm38) |
Y148H |
probably damaging |
Het |
| Rdh11 |
T |
G |
12: 79,189,106 (GRCm38) |
K23Q |
probably benign |
Het |
| Rit2 |
T |
A |
18: 30,975,494 (GRCm38) |
E146V |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,837,265 (GRCm38) |
|
probably benign |
Het |
| Sars |
T |
A |
3: 108,445,062 (GRCm38) |
E24V |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,011,861 (GRCm38) |
I1129V |
probably benign |
Het |
| Slc10a5 |
G |
T |
3: 10,335,324 (GRCm38) |
P92Q |
probably benign |
Het |
| Slc24a5 |
A |
T |
2: 125,085,655 (GRCm38) |
|
probably null |
Het |
| Slc5a8 |
A |
G |
10: 88,921,699 (GRCm38) |
Y517C |
probably damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,912,163 (GRCm38) |
M148V |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 42,041,561 (GRCm38) |
|
probably null |
Het |
| Tgm4 |
A |
T |
9: 123,045,052 (GRCm38) |
Y119F |
probably benign |
Het |
| Tgm6 |
A |
G |
2: 130,151,280 (GRCm38) |
K562R |
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,397,979 (GRCm38) |
E627G |
possibly damaging |
Het |
| Tmprss11f |
A |
G |
5: 86,530,019 (GRCm38) |
L297P |
probably damaging |
Het |
| Tpbgl |
T |
C |
7: 99,625,771 (GRCm38) |
H293R |
probably benign |
Het |
| Trank1 |
A |
C |
9: 111,364,909 (GRCm38) |
K667T |
probably damaging |
Het |
| Trpm1 |
A |
T |
7: 64,201,951 (GRCm38) |
Q139L |
probably benign |
Het |
| Ttf2 |
T |
G |
3: 100,962,563 (GRCm38) |
K398T |
possibly damaging |
Het |
| Xpa |
A |
T |
4: 46,183,150 (GRCm38) |
M213K |
probably benign |
Het |
| Zmym2 |
T |
A |
14: 56,925,859 (GRCm38) |
S623T |
probably benign |
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 |
|
R4726:Ptprn2
|
UTSW |
12 |
117,247,773 (GRCm38) |
nonsense |
probably null |
|
|
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 |
|
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'- GCTTGCAGTTCTGTAGGATCAC -3'
(R):5'- TTCCAAGGTTAGGGAGCAGC -3'
Sequencing Primer
(F):5'- GAAGGCTAACTGATCCCTTGACTG -3'
(R):5'- GTTAGGGAGCAGCTGACAG -3'
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| Posted On |
2020-07-13 |
Incidental Mutation