Incidental Mutation 'R5638:Ptpn14'
| ID |
440471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn14
|
| Ensembl Gene |
ENSMUSG00000026604 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 14 |
| Synonyms |
C130080N23Rik, OTTMUSG00000022087, PTP36 |
| MMRRC Submission |
043168-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5638 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
189460465-189608892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 189519038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 23
(T23A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027898]
[ENSMUST00000097442]
|
| AlphaFold |
Q62130 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027898
AA Change: T23A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
AA Change: T23A
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
17 |
220 |
3.7e-67 |
SMART |
|
FERM_C
|
224 |
310 |
3.43e-15 |
SMART |
|
low complexity region
|
565 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
710 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
834 |
N/A |
INTRINSIC |
|
PTPc
|
910 |
1184 |
2.14e-103 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097442
AA Change: T23A
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: T23A
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
17 |
220 |
3.7e-67 |
SMART |
|
FERM_C
|
224 |
310 |
3.43e-15 |
SMART |
|
low complexity region
|
565 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
710 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
834 |
N/A |
INTRINSIC |
|
PTPc
|
910 |
1184 |
2.14e-103 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194127
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit some postnatal growth retardation, decreased body weight, periorbital and limb edema, and lymphatic vessel hyperplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
G |
A |
10: 76,288,729 (GRCm39) |
A96T |
probably benign |
Het |
| A930018M24Rik |
T |
C |
14: 51,134,414 (GRCm39) |
D76G |
possibly damaging |
Het |
| Adamtsl3 |
A |
T |
7: 82,260,958 (GRCm39) |
R1631W |
probably damaging |
Het |
| Alg5 |
C |
T |
3: 54,646,254 (GRCm39) |
H40Y |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,949,095 (GRCm39) |
L270P |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,893,860 (GRCm39) |
Y457C |
probably damaging |
Het |
| Cenpa |
A |
T |
5: 30,830,736 (GRCm39) |
R124W |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,275,894 (GRCm39) |
T1385A |
possibly damaging |
Het |
| Chd9 |
A |
T |
8: 91,738,078 (GRCm39) |
H1570L |
possibly damaging |
Het |
| Cmtm4 |
T |
C |
8: 105,084,356 (GRCm39) |
I113V |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,024,693 (GRCm39) |
I1789T |
possibly damaging |
Het |
| Dpf3 |
G |
A |
12: 83,371,714 (GRCm39) |
R174W |
probably damaging |
Het |
| Dusp26 |
T |
C |
8: 31,584,169 (GRCm39) |
L92P |
probably damaging |
Het |
| Fndc7 |
T |
A |
3: 108,770,208 (GRCm39) |
T659S |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,282,546 (GRCm39) |
H357R |
possibly damaging |
Het |
| G0s2 |
A |
T |
1: 192,954,859 (GRCm39) |
L75H |
probably damaging |
Het |
| Gm5493 |
A |
G |
17: 22,969,065 (GRCm39) |
T82A |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,854,164 (GRCm39) |
V3690A |
probably benign |
Het |
| Igf2bp3 |
C |
A |
6: 49,064,734 (GRCm39) |
V537F |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,956,538 (GRCm39) |
R2101W |
possibly damaging |
Het |
| Kpna2rt |
T |
C |
17: 90,217,635 (GRCm39) |
E37G |
probably damaging |
Het |
| Mrgpra6 |
G |
T |
7: 46,835,657 (GRCm39) |
P255T |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,125,364 (GRCm39) |
V229A |
probably benign |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Or6c210 |
T |
A |
10: 129,495,969 (GRCm39) |
I98K |
possibly damaging |
Het |
| Or7g21 |
T |
A |
9: 19,032,676 (GRCm39) |
C142S |
probably benign |
Het |
| Ppt2 |
C |
A |
17: 34,844,823 (GRCm39) |
M140I |
probably benign |
Het |
| Ppwd1 |
A |
G |
13: 104,356,906 (GRCm39) |
I203T |
probably damaging |
Het |
| Prpf6 |
A |
G |
2: 181,287,381 (GRCm39) |
T589A |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,287,427 (GRCm39) |
L453P |
probably benign |
Het |
| Rxrb |
T |
C |
17: 34,256,381 (GRCm39) |
L374P |
probably damaging |
Het |
| Scaf4 |
T |
C |
16: 90,041,198 (GRCm39) |
E710G |
unknown |
Het |
| Sik1 |
C |
T |
17: 32,069,802 (GRCm39) |
V216I |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,950,380 (GRCm39) |
K236* |
probably null |
Het |
| Slc38a4 |
A |
C |
15: 96,910,871 (GRCm39) |
S135A |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,139,571 (GRCm39) |
V263D |
probably damaging |
Het |
| Socs2 |
T |
C |
10: 95,228,745 (GRCm39) |
I168M |
unknown |
Het |
| Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,469,825 (GRCm39) |
S4508P |
possibly damaging |
Het |
| Stat5b |
C |
A |
11: 100,675,080 (GRCm39) |
E710* |
probably null |
Het |
| Stip1 |
G |
A |
19: 7,009,883 (GRCm39) |
P213L |
probably damaging |
Het |
| Tarbp1 |
A |
T |
8: 127,177,425 (GRCm39) |
L749Q |
probably damaging |
Het |
| Thsd7b |
T |
G |
1: 129,523,270 (GRCm39) |
S24R |
probably benign |
Het |
| Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
| Vmn2r65 |
C |
T |
7: 84,590,047 (GRCm39) |
C623Y |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,258,799 (GRCm39) |
V742A |
probably damaging |
Het |
|
| Other mutations in Ptpn14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Ptpn14
|
APN |
1 |
189,554,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02501:Ptpn14
|
APN |
1 |
189,582,587 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03011:Ptpn14
|
APN |
1 |
189,571,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
jelly
|
UTSW |
1 |
189,554,872 (GRCm39) |
nonsense |
probably null |
|
|
Rubens
|
UTSW |
1 |
189,564,997 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0724:Ptpn14
|
UTSW |
1 |
189,583,144 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0791:Ptpn14
|
UTSW |
1 |
189,568,637 (GRCm39) |
splice site |
probably benign |
|
|
R1363:Ptpn14
|
UTSW |
1 |
189,530,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Ptpn14
|
UTSW |
1 |
189,597,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1840:Ptpn14
|
UTSW |
1 |
189,519,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1845:Ptpn14
|
UTSW |
1 |
189,571,699 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1891:Ptpn14
|
UTSW |
1 |
189,530,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2187:Ptpn14
|
UTSW |
1 |
189,595,425 (GRCm39) |
nonsense |
probably null |
|
|
R2288:Ptpn14
|
UTSW |
1 |
189,597,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3686:Ptpn14
|
UTSW |
1 |
189,583,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3895:Ptpn14
|
UTSW |
1 |
189,582,743 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3898:Ptpn14
|
UTSW |
1 |
189,582,728 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4004:Ptpn14
|
UTSW |
1 |
189,582,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4816:Ptpn14
|
UTSW |
1 |
189,588,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Ptpn14
|
UTSW |
1 |
189,582,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4928:Ptpn14
|
UTSW |
1 |
189,554,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4931:Ptpn14
|
UTSW |
1 |
189,583,474 (GRCm39) |
missense |
probably benign |
|
|
R4957:Ptpn14
|
UTSW |
1 |
189,583,469 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5009:Ptpn14
|
UTSW |
1 |
189,582,731 (GRCm39) |
missense |
probably benign |
|
|
R5038:Ptpn14
|
UTSW |
1 |
189,519,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5264:Ptpn14
|
UTSW |
1 |
189,564,997 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5373:Ptpn14
|
UTSW |
1 |
189,583,160 (GRCm39) |
missense |
probably benign |
|
|
R5441:Ptpn14
|
UTSW |
1 |
189,530,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5540:Ptpn14
|
UTSW |
1 |
189,578,561 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5746:Ptpn14
|
UTSW |
1 |
189,578,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5872:Ptpn14
|
UTSW |
1 |
189,583,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5988:Ptpn14
|
UTSW |
1 |
189,582,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Ptpn14
|
UTSW |
1 |
189,583,362 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6295:Ptpn14
|
UTSW |
1 |
189,582,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6770:Ptpn14
|
UTSW |
1 |
189,564,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7097:Ptpn14
|
UTSW |
1 |
189,595,595 (GRCm39) |
nonsense |
probably null |
|
|
R7320:Ptpn14
|
UTSW |
1 |
189,564,956 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7324:Ptpn14
|
UTSW |
1 |
189,595,621 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7599:Ptpn14
|
UTSW |
1 |
189,582,942 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7699:Ptpn14
|
UTSW |
1 |
189,597,608 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7700:Ptpn14
|
UTSW |
1 |
189,597,608 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8379:Ptpn14
|
UTSW |
1 |
189,565,598 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8889:Ptpn14
|
UTSW |
1 |
189,554,872 (GRCm39) |
nonsense |
probably null |
|
|
R9659:Ptpn14
|
UTSW |
1 |
189,587,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9719:Ptpn14
|
UTSW |
1 |
189,583,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Ptpn14
|
UTSW |
1 |
189,592,667 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATCAGACTCTGTTTCCTCCACAG -3'
(R):5'- AGCTGGTTCCTCTGAAGAGC -3'
Sequencing Primer
(F):5'- TGGGCATGGACATCTTTATCC -3'
(R):5'- GGTTCCTCTGAAGAGCCCACTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation