Incidental Mutation 'R5441:Ptpn14'
ID |
427158 |
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 |
043006-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5441 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
189460465-189608892 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 189530767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 78
(L78P)
|
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: L78P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027898 Gene: ENSMUSG00000026604 AA Change: L78P
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: L78P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095051 Gene: ENSMUSG00000026604 AA Change: L78P
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 |
0.6666 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
98% (56/57) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,334,215 (GRCm39) |
Y1096H |
probably damaging |
Het |
Aspa |
A |
T |
11: 73,196,420 (GRCm39) |
F261I |
probably damaging |
Het |
Atm |
C |
A |
9: 53,427,767 (GRCm39) |
G448* |
probably null |
Het |
Atmin |
T |
A |
8: 117,684,696 (GRCm39) |
D785E |
probably damaging |
Het |
Car1 |
G |
C |
3: 14,841,364 (GRCm39) |
R90G |
probably damaging |
Het |
Cdh11 |
T |
C |
8: 103,374,178 (GRCm39) |
D520G |
probably benign |
Het |
Cers5 |
T |
A |
15: 99,649,119 (GRCm39) |
K50* |
probably null |
Het |
Chad |
A |
T |
11: 94,459,118 (GRCm39) |
D340V |
probably benign |
Het |
Cspg5 |
T |
C |
9: 110,075,711 (GRCm39) |
I68T |
probably benign |
Het |
Fcgbpl1 |
C |
T |
7: 27,856,339 (GRCm39) |
T2042M |
probably damaging |
Het |
Fcrla |
T |
A |
1: 170,752,991 (GRCm39) |
|
probably benign |
Het |
Fer1l4 |
T |
A |
2: 155,865,177 (GRCm39) |
D1608V |
probably benign |
Het |
Fzd5 |
T |
A |
1: 64,774,576 (GRCm39) |
Q395L |
probably benign |
Het |
Gm7664 |
T |
A |
13: 62,676,464 (GRCm39) |
|
probably benign |
Het |
Hk3 |
T |
C |
13: 55,162,869 (GRCm39) |
E2G |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,296,428 (GRCm39) |
E2677K |
possibly damaging |
Het |
Hydin |
T |
C |
8: 111,291,741 (GRCm39) |
L3411P |
possibly damaging |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Lysmd2 |
C |
T |
9: 75,533,254 (GRCm39) |
H70Y |
possibly damaging |
Het |
Msi2 |
A |
G |
11: 88,370,818 (GRCm39) |
|
probably benign |
Het |
Msi2 |
G |
A |
11: 88,608,921 (GRCm39) |
|
probably benign |
Het |
Napsa |
T |
A |
7: 44,230,817 (GRCm39) |
|
probably benign |
Het |
Nlrp4a |
T |
A |
7: 26,153,578 (GRCm39) |
L710M |
probably damaging |
Het |
Or10g1 |
T |
A |
14: 52,647,414 (GRCm39) |
K305M |
probably benign |
Het |
Or12d13 |
T |
C |
17: 37,647,159 (GRCm39) |
|
probably null |
Het |
Or5m13 |
T |
A |
2: 85,748,934 (GRCm39) |
F222I |
probably benign |
Het |
Or6ae1 |
T |
C |
7: 139,742,564 (GRCm39) |
T100A |
probably benign |
Het |
Or9a2 |
C |
T |
6: 41,748,782 (GRCm39) |
M150I |
probably benign |
Het |
Plbd2 |
T |
A |
5: 120,637,147 (GRCm39) |
Y105F |
probably benign |
Het |
Plppr5 |
A |
T |
3: 117,456,120 (GRCm39) |
I214F |
possibly damaging |
Het |
Pramel34 |
A |
T |
5: 93,784,456 (GRCm39) |
M139K |
possibly damaging |
Het |
Ptcd3 |
A |
G |
6: 71,858,505 (GRCm39) |
V655A |
possibly damaging |
Het |
Ralgapa1 |
A |
C |
12: 55,766,408 (GRCm39) |
D1295E |
probably damaging |
Het |
Rnf213 |
G |
A |
11: 119,299,846 (GRCm39) |
D192N |
probably damaging |
Het |
Ropn1 |
A |
G |
16: 34,487,167 (GRCm39) |
I34M |
probably damaging |
Het |
Rpe65 |
G |
T |
3: 159,310,038 (GRCm39) |
G104C |
probably damaging |
Het |
Scgb2b27 |
T |
C |
7: 33,712,582 (GRCm39) |
|
probably benign |
Het |
Sh3bgr |
T |
C |
16: 96,007,117 (GRCm39) |
I29T |
possibly damaging |
Het |
Smg1 |
T |
C |
7: 117,794,304 (GRCm39) |
|
probably benign |
Het |
Stim2 |
T |
A |
5: 54,232,712 (GRCm39) |
C68* |
probably null |
Het |
Syne2 |
G |
A |
12: 76,035,917 (GRCm39) |
V3736I |
possibly damaging |
Het |
Tbx19 |
T |
C |
1: 164,981,249 (GRCm39) |
N82D |
probably damaging |
Het |
Tdp1 |
T |
A |
12: 99,876,544 (GRCm39) |
V353D |
probably damaging |
Het |
Tg |
T |
A |
15: 66,568,369 (GRCm39) |
I1352K |
possibly damaging |
Het |
Thsd4 |
T |
C |
9: 59,887,066 (GRCm39) |
T919A |
probably damaging |
Het |
Tmprss11f |
A |
T |
5: 86,676,062 (GRCm39) |
M373K |
probably damaging |
Het |
Tmprss15 |
T |
A |
16: 78,868,335 (GRCm39) |
|
probably null |
Het |
Tpd52 |
A |
T |
3: 9,068,466 (GRCm39) |
Y16* |
probably null |
Het |
Ube2o |
G |
A |
11: 116,435,268 (GRCm39) |
R507C |
probably damaging |
Het |
Unc93b1 |
T |
C |
19: 3,993,703 (GRCm39) |
F382L |
probably benign |
Het |
Vav2 |
A |
T |
2: 27,160,122 (GRCm39) |
|
probably benign |
Het |
Vmn1r207 |
T |
C |
13: 22,910,686 (GRCm39) |
|
noncoding transcript |
Het |
Zan |
T |
A |
5: 137,435,013 (GRCm39) |
I2127F |
unknown |
Het |
Zfp748 |
C |
A |
13: 67,688,737 (GRCm39) |
C841F |
probably damaging |
Het |
Zic4 |
C |
A |
9: 91,266,253 (GRCm39) |
P299Q |
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 |
|
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'- AATACCGCTTCTGTAGGTGG -3'
(R):5'- AGCCTCCTGGTTATCCACAC -3'
Sequencing Primer
(F):5'- AGAGAAGACGCTGGCTCTCTG -3'
(R):5'- TGGTTATCCACACCCTTATGG -3'
|
Posted On |
2016-09-01 |