Incidental Mutation 'R7225:Ptpn18'
| ID |
562071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn18
|
| Ensembl Gene |
ENSMUSG00000026126 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 18 |
| Synonyms |
PTP-K1, FLP1, PTP-HSCF, HSCF, Ptpk1 |
| MMRRC Submission |
045297-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R7225 (G1)
|
| Quality Score |
183.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
34459762-34475733 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34472846 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 366
(T366I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027302]
[ENSMUST00000188972]
[ENSMUST00000190122]
|
| AlphaFold |
Q61152 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027302
AA Change: T366I
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
AA Change: T366I
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
25 |
293 |
7.77e-115 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188972
AA Change: T17I
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190122
|
| SMART Domains |
Protein: ENSMUSP00000139885
Gene: ENSMUSG00000026126
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
2 |
269 |
9.1e-113 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (62/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
T |
C |
12: 110,670,865 (GRCm38) |
|
probably benign |
Het |
| 5430403G16Rik |
T |
C |
5: 109,677,149 (GRCm38) |
H145R |
possibly damaging |
Het |
| 5730480H06Rik |
T |
A |
5: 48,380,233 (GRCm38) |
|
probably null |
Het |
| Actn4 |
A |
T |
7: 28,898,699 (GRCm38) |
V492D |
probably damaging |
Het |
| Alpk2 |
T |
C |
18: 65,305,199 (GRCm38) |
E1041G |
probably benign |
Het |
| Asap1 |
G |
A |
15: 64,130,250 (GRCm38) |
T404M |
probably damaging |
Het |
| Cd22 |
C |
T |
7: 30,877,634 (GRCm38) |
A83T |
not run |
Het |
| Cdan1 |
T |
C |
2: 120,724,912 (GRCm38) |
T783A |
probably benign |
Het |
| Cdh9 |
C |
T |
15: 16,856,073 (GRCm38) |
S733F |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,904,374 (GRCm38) |
F2282S |
unknown |
Het |
| Chst9 |
T |
C |
18: 15,452,661 (GRCm38) |
K282E |
probably damaging |
Het |
| Clcn1 |
G |
A |
6: 42,293,462 (GRCm38) |
D232N |
probably damaging |
Het |
| Clpb |
T |
A |
7: 101,711,465 (GRCm38) |
L234Q |
probably damaging |
Het |
| Cluh |
T |
G |
11: 74,666,406 (GRCm38) |
|
probably null |
Het |
| Cnp |
C |
T |
11: 100,580,587 (GRCm38) |
Q352* |
probably null |
Het |
| Cyfip1 |
AGTGT |
AGT |
7: 55,928,189 (GRCm38) |
|
probably null |
Het |
| Dtx3 |
C |
T |
10: 127,191,489 (GRCm38) |
C272Y |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,142,756 (GRCm38) |
I1156T |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,012,702 (GRCm38) |
V1697E |
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,423,624 (GRCm38) |
D211G |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,853,259 (GRCm38) |
K36R |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,980,176 (GRCm38) |
I2659T |
possibly damaging |
Het |
| Fer1l5 |
T |
C |
1: 36,420,952 (GRCm38) |
W1893R |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,684,047 (GRCm38) |
L256Q |
probably damaging |
Het |
| Gpc5 |
T |
G |
14: 115,552,298 (GRCm38) |
V528G |
probably damaging |
Het |
| Gria2 |
T |
A |
3: 80,802,631 (GRCm38) |
|
probably benign |
Het |
| Htatip2 |
A |
G |
7: 49,770,856 (GRCm38) |
E150G |
possibly damaging |
Het |
| Jak3 |
C |
A |
8: 71,685,511 (GRCm38) |
Q869K |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,226,065 (GRCm38) |
V1218A |
probably benign |
Het |
| Kcnf1 |
A |
G |
12: 17,175,693 (GRCm38) |
C176R |
possibly damaging |
Het |
| Kcnq4 |
A |
G |
4: 120,746,914 (GRCm38) |
V88A |
probably benign |
Het |
| Lmod3 |
T |
A |
6: 97,247,384 (GRCm38) |
D492V |
probably benign |
Het |
| Lurap1l |
A |
C |
4: 80,911,481 (GRCm38) |
S43R |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,565,546 (GRCm38) |
H890R |
possibly damaging |
Het |
| Mertk |
T |
G |
2: 128,801,562 (GRCm38) |
N960K |
possibly damaging |
Het |
| Nudt9 |
C |
A |
5: 104,065,100 (GRCm38) |
D346E |
probably benign |
Het |
| Olfr1434 |
A |
T |
19: 12,283,467 (GRCm38) |
T140S |
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,614,039 (GRCm38) |
|
probably null |
Het |
| Oxr1 |
C |
T |
15: 41,813,608 (GRCm38) |
P187L |
not run |
Het |
| Paxbp1 |
T |
C |
16: 91,027,068 (GRCm38) |
E564G |
probably damaging |
Het |
| Pcdhb13 |
C |
T |
18: 37,444,437 (GRCm38) |
R623C |
possibly damaging |
Het |
| Pkhd1l1 |
G |
T |
15: 44,546,941 (GRCm38) |
V2615F |
probably damaging |
Het |
| Plin3 |
T |
C |
17: 56,286,541 (GRCm38) |
T58A |
possibly damaging |
Het |
| Por |
A |
G |
5: 135,732,587 (GRCm38) |
D309G |
probably benign |
Het |
| Ppp2r5e |
T |
C |
12: 75,468,579 (GRCm38) |
K261R |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,000,929 (GRCm38) |
G1006E |
possibly damaging |
Het |
| Rnf219 |
T |
C |
14: 104,479,858 (GRCm38) |
T360A |
probably benign |
Het |
| Rpl12 |
C |
T |
2: 32,961,897 (GRCm38) |
|
probably benign |
Het |
| Rpsa |
T |
G |
9: 120,131,156 (GRCm38) |
F262V |
probably benign |
Het |
| Sh3pxd2a |
G |
T |
19: 47,267,389 (GRCm38) |
N991K |
probably damaging |
Het |
| Shank2 |
T |
A |
7: 144,285,025 (GRCm38) |
N19K |
probably benign |
Het |
| Sik1 |
T |
C |
17: 31,854,300 (GRCm38) |
T61A |
probably benign |
Het |
| Sipa1l3 |
A |
C |
7: 29,399,428 (GRCm38) |
V472G |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,622,481 (GRCm38) |
S313P |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,763,962 (GRCm38) |
|
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,387,124 (GRCm38) |
V266E |
probably benign |
Het |
| Spag9 |
T |
C |
11: 94,097,358 (GRCm38) |
C833R |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,828,448 (GRCm38) |
T812A |
unknown |
Het |
| Tnfsf4 |
A |
G |
1: 161,417,250 (GRCm38) |
D170G |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,769,657 (GRCm38) |
N357S |
probably damaging |
Het |
| Txk |
C |
T |
5: 72,700,714 (GRCm38) |
D418N |
probably damaging |
Het |
| Ube2j2 |
A |
G |
4: 155,949,316 (GRCm38) |
|
probably null |
Het |
| Vmn2r84 |
G |
A |
10: 130,386,683 (GRCm38) |
P556L |
probably damaging |
Het |
| Zfp442 |
T |
C |
2: 150,409,005 (GRCm38) |
N326D |
probably benign |
Het |
|
| Other mutations in Ptpn18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Ptpn18
|
APN |
1 |
34,463,119 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01611:Ptpn18
|
APN |
1 |
34,459,817 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL01633:Ptpn18
|
APN |
1 |
34,471,908 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03379:Ptpn18
|
APN |
1 |
34,470,257 (GRCm38) |
splice site |
probably null |
|
|
R0848:Ptpn18
|
UTSW |
1 |
34,462,702 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1400:Ptpn18
|
UTSW |
1 |
34,463,506 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1973:Ptpn18
|
UTSW |
1 |
34,463,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2040:Ptpn18
|
UTSW |
1 |
34,470,219 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2113:Ptpn18
|
UTSW |
1 |
34,471,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2963:Ptpn18
|
UTSW |
1 |
34,471,692 (GRCm38) |
nonsense |
probably null |
|
|
R4061:Ptpn18
|
UTSW |
1 |
34,472,930 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4062:Ptpn18
|
UTSW |
1 |
34,472,930 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4509:Ptpn18
|
UTSW |
1 |
34,462,742 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R4522:Ptpn18
|
UTSW |
1 |
34,472,960 (GRCm38) |
missense |
probably benign |
|
|
R4626:Ptpn18
|
UTSW |
1 |
34,471,792 (GRCm38) |
splice site |
probably null |
|
|
R4978:Ptpn18
|
UTSW |
1 |
34,469,813 (GRCm38) |
intron |
probably benign |
|
|
R5260:Ptpn18
|
UTSW |
1 |
34,463,510 (GRCm38) |
splice site |
probably benign |
|
|
R5335:Ptpn18
|
UTSW |
1 |
34,463,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5481:Ptpn18
|
UTSW |
1 |
34,471,663 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5865:Ptpn18
|
UTSW |
1 |
34,471,563 (GRCm38) |
splice site |
probably benign |
|
|
R7038:Ptpn18
|
UTSW |
1 |
34,459,825 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R7290:Ptpn18
|
UTSW |
1 |
34,462,811 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7411:Ptpn18
|
UTSW |
1 |
34,472,192 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7434:Ptpn18
|
UTSW |
1 |
34,473,364 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7441:Ptpn18
|
UTSW |
1 |
34,473,335 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7442:Ptpn18
|
UTSW |
1 |
34,462,750 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7462:Ptpn18
|
UTSW |
1 |
34,473,364 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7463:Ptpn18
|
UTSW |
1 |
34,473,364 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7464:Ptpn18
|
UTSW |
1 |
34,473,364 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7465:Ptpn18
|
UTSW |
1 |
34,473,364 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7535:Ptpn18
|
UTSW |
1 |
34,473,364 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7537:Ptpn18
|
UTSW |
1 |
34,473,364 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7678:Ptpn18
|
UTSW |
1 |
34,473,364 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7689:Ptpn18
|
UTSW |
1 |
34,473,364 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7899:Ptpn18
|
UTSW |
1 |
34,469,905 (GRCm38) |
splice site |
probably null |
|
|
R8543:Ptpn18
|
UTSW |
1 |
34,472,148 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8821:Ptpn18
|
UTSW |
1 |
34,472,190 (GRCm38) |
missense |
probably null |
1.00 |
|
R8831:Ptpn18
|
UTSW |
1 |
34,472,190 (GRCm38) |
missense |
probably null |
1.00 |
|
R8858:Ptpn18
|
UTSW |
1 |
34,463,115 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8879:Ptpn18
|
UTSW |
1 |
34,463,130 (GRCm38) |
missense |
probably benign |
0.23 |
|
R8924:Ptpn18
|
UTSW |
1 |
34,459,885 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9657:Ptpn18
|
UTSW |
1 |
34,473,392 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
X0065:Ptpn18
|
UTSW |
1 |
34,469,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTTTCTGCCCTCAGGTGG -3'
(R):5'- AGGTACTTGTCCTCAGCTCC -3'
Sequencing Primer
(F):5'- TCCTGCTCTGAAGACTGGG -3'
(R):5'- GTACTTGTCCTCAGCTCCACACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation