Incidental Mutation 'R5038:Ptpn14'
| ID |
393087 |
| 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 |
042628-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5038 (G1)
|
| Quality Score |
182 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
189460465-189608892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 189519083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 38
(S38P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027898]
[ENSMUST00000097442]
|
| AlphaFold |
Q62130 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027898
AA Change: S38P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
AA Change: S38P
| 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 damaging
Transcript: ENSMUST00000097442
AA Change: S38P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: S38P
| 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
|
| Meta Mutation Damage Score |
0.3536 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
94% (64/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930512M02Rik |
A |
T |
11: 11,539,375 (GRCm39) |
|
probably null |
Het |
| Abtb2 |
G |
T |
2: 103,397,408 (GRCm39) |
G113C |
probably damaging |
Het |
| Acsm5 |
A |
G |
7: 119,134,034 (GRCm39) |
T272A |
probably damaging |
Het |
| Adprs |
C |
T |
4: 126,211,102 (GRCm39) |
E272K |
possibly damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Atp7b |
A |
C |
8: 22,518,472 (GRCm39) |
I122S |
possibly damaging |
Het |
| B230219D22Rik |
T |
C |
13: 55,847,288 (GRCm39) |
Y134H |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,618,462 (GRCm39) |
S868P |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,229,926 (GRCm39) |
E302G |
probably damaging |
Het |
| Car1 |
A |
G |
3: 14,835,933 (GRCm39) |
Y129H |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,984,197 (GRCm39) |
T352A |
probably benign |
Het |
| Ckmt2 |
T |
C |
13: 92,009,282 (GRCm39) |
E215G |
probably benign |
Het |
| Cyb5r4 |
T |
G |
9: 86,941,130 (GRCm39) |
|
probably null |
Het |
| Dhrs13 |
A |
G |
11: 77,923,256 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
G |
A |
18: 20,397,901 (GRCm39) |
A34T |
probably benign |
Het |
| Epb41l1 |
T |
C |
2: 156,363,330 (GRCm39) |
V613A |
probably benign |
Het |
| Fam114a1 |
A |
G |
5: 65,166,388 (GRCm39) |
M240V |
probably damaging |
Het |
| Gm15455 |
T |
C |
1: 33,877,257 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
T |
G |
9: 66,383,742 (GRCm39) |
|
probably benign |
Het |
| Ifna11 |
T |
C |
4: 88,738,314 (GRCm39) |
V40A |
probably benign |
Het |
| Ifna15 |
T |
C |
4: 88,476,266 (GRCm39) |
N73D |
probably benign |
Het |
| Imp4 |
A |
T |
1: 34,482,016 (GRCm39) |
L45F |
probably damaging |
Het |
| Jak3 |
G |
A |
8: 72,138,702 (GRCm39) |
A967T |
probably damaging |
Het |
| Krtap19-2 |
A |
T |
16: 88,670,916 (GRCm39) |
Y76* |
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,871,388 (GRCm39) |
N492K |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,534,375 (GRCm39) |
R372H |
probably damaging |
Het |
| Nos2 |
G |
A |
11: 78,813,140 (GRCm39) |
S16N |
probably benign |
Het |
| Nr2c2 |
A |
G |
6: 92,116,803 (GRCm39) |
T2A |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,199,232 (GRCm39) |
Y267H |
probably damaging |
Het |
| Nxph2 |
G |
A |
2: 23,211,556 (GRCm39) |
|
probably null |
Het |
| Or5b107 |
T |
A |
19: 13,142,955 (GRCm39) |
D192E |
probably benign |
Het |
| Or5b96 |
T |
A |
19: 12,867,770 (GRCm39) |
H57L |
probably damaging |
Het |
| Or9i1b |
T |
A |
19: 13,896,822 (GRCm39) |
V146E |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,541,783 (GRCm39) |
E761K |
possibly damaging |
Het |
| Pik3r1 |
C |
T |
13: 101,825,952 (GRCm39) |
R37Q |
probably damaging |
Het |
| Pkn3 |
T |
C |
2: 29,975,293 (GRCm39) |
|
probably null |
Het |
| Pold3 |
A |
G |
7: 99,770,590 (GRCm39) |
V14A |
probably damaging |
Het |
| Raf1 |
G |
A |
6: 115,597,196 (GRCm39) |
Q35* |
probably null |
Het |
| Rps3a1 |
C |
A |
3: 86,045,338 (GRCm39) |
E251D |
probably benign |
Het |
| Scd1 |
C |
T |
19: 44,390,148 (GRCm39) |
V207M |
probably damaging |
Het |
| Shq1 |
A |
G |
6: 100,607,954 (GRCm39) |
V319A |
probably benign |
Het |
| Slc4a8 |
T |
C |
15: 100,693,702 (GRCm39) |
Y416H |
probably damaging |
Het |
| Slco1a5 |
T |
C |
6: 142,208,363 (GRCm39) |
T143A |
probably benign |
Het |
| Slco1a5 |
C |
T |
6: 142,212,090 (GRCm39) |
G90D |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,937,348 (GRCm39) |
V30A |
probably benign |
Het |
| Spdya |
T |
C |
17: 71,895,561 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
A |
T |
1: 52,162,368 (GRCm39) |
N75I |
probably damaging |
Het |
| Sv2b |
A |
T |
7: 74,807,173 (GRCm39) |
M159K |
probably damaging |
Het |
| Tdh |
A |
T |
14: 63,733,575 (GRCm39) |
Y89* |
probably null |
Het |
| Tmc7 |
A |
G |
7: 118,142,588 (GRCm39) |
F600S |
probably damaging |
Het |
| Trpa1 |
T |
A |
1: 14,981,090 (GRCm39) |
H104L |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,678,984 (GRCm39) |
|
probably benign |
Het |
| Vmn1r113 |
A |
G |
7: 20,521,419 (GRCm39) |
I70M |
possibly damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,188 (GRCm39) |
M138V |
probably benign |
Het |
| Zfc3h1 |
G |
A |
10: 115,240,116 (GRCm39) |
V550I |
probably benign |
Het |
| Zfp335 |
G |
T |
2: 164,752,564 (GRCm39) |
S60* |
probably null |
Het |
| Zfp7 |
T |
C |
15: 76,776,010 (GRCm39) |
M684T |
probably benign |
Het |
| Zfp984 |
T |
A |
4: 147,839,903 (GRCm39) |
H316L |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,193,637 (GRCm39) |
Y1151N |
possibly 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 |
|
|
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 |
|
R5638:Ptpn14
|
UTSW |
1 |
189,519,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACATACCTTAGTGTGACCACGC -3'
(R):5'- AGCAGGTTCTTTTAAACACACGC -3'
Sequencing Primer
(F):5'- TTAGTGTGACCACGCCGACAG -3'
(R):5'- GGTTCTTTTAAACACACGCTTAGGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation