Incidental Mutation 'R8379:Ptpn14'
ID |
646838 |
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 |
067810-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8379 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
189460465-189608892 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 189565598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 222
(V222E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027898]
[ENSMUST00000097442]
|
AlphaFold |
Q62130 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027898
AA Change: V222E
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027898 Gene: ENSMUSG00000026604 AA Change: V222E
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: V222E
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000095051 Gene: ENSMUSG00000026604 AA Change: V222E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
98% (61/62) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aipl1 |
T |
C |
11: 71,920,126 (GRCm39) |
D314G |
probably benign |
Het |
Ankrd12 |
T |
G |
17: 66,290,939 (GRCm39) |
E1498A |
probably benign |
Het |
Appl1 |
A |
T |
14: 26,647,372 (GRCm39) |
|
probably null |
Het |
Auh |
A |
G |
13: 53,063,349 (GRCm39) |
*116R |
probably null |
Het |
Ccdc7a |
T |
A |
8: 129,691,417 (GRCm39) |
H402L |
probably benign |
Het |
Ccr4 |
T |
C |
9: 114,321,235 (GRCm39) |
T277A |
probably benign |
Het |
Col18a1 |
C |
T |
10: 76,889,072 (GRCm39) |
V1302I |
probably benign |
Het |
Csnk1a1 |
T |
C |
18: 61,688,925 (GRCm39) |
I35T |
probably benign |
Het |
Csnk1e |
T |
C |
15: 79,304,882 (GRCm39) |
R374G |
possibly damaging |
Het |
Ddx11 |
A |
G |
17: 66,437,020 (GRCm39) |
R105G |
probably benign |
Het |
Denr |
C |
A |
5: 124,065,124 (GRCm39) |
T159K |
possibly damaging |
Het |
Dmp1 |
C |
A |
5: 104,359,571 (GRCm39) |
Y82* |
probably null |
Het |
Dok3 |
A |
G |
13: 55,671,833 (GRCm39) |
V246A |
probably benign |
Het |
Endov |
A |
C |
11: 119,382,723 (GRCm39) |
K57Q |
possibly damaging |
Het |
Fam83a |
A |
G |
15: 57,873,196 (GRCm39) |
T342A |
probably benign |
Het |
Fbln1 |
G |
A |
15: 85,116,773 (GRCm39) |
C275Y |
probably damaging |
Het |
Fhip1b |
T |
C |
7: 105,034,342 (GRCm39) |
N430D |
possibly damaging |
Het |
Foxi1 |
A |
G |
11: 34,157,530 (GRCm39) |
I165T |
possibly damaging |
Het |
Gm14496 |
A |
T |
2: 181,642,275 (GRCm39) |
I649F |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,899,967 (GRCm39) |
S305P |
probably damaging |
Het |
Grm1 |
G |
A |
10: 10,564,879 (GRCm39) |
T1143M |
possibly damaging |
Het |
Ifi202b |
C |
A |
1: 173,802,298 (GRCm39) |
|
probably null |
Het |
Klhl32 |
A |
T |
4: 24,629,194 (GRCm39) |
D491E |
probably damaging |
Het |
Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
Krt13 |
A |
G |
11: 100,009,706 (GRCm39) |
L358P |
probably damaging |
Het |
Limk2 |
G |
A |
11: 3,321,162 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,756,453 (GRCm39) |
D4720G |
probably null |
Het |
Mkln1 |
T |
A |
6: 31,435,900 (GRCm39) |
Y286* |
probably null |
Het |
Muc6 |
C |
A |
7: 141,230,579 (GRCm39) |
E1143* |
probably null |
Het |
Myh15 |
A |
G |
16: 48,901,551 (GRCm39) |
I242M |
probably benign |
Het |
Noc4l |
T |
G |
5: 110,798,828 (GRCm39) |
K241Q |
probably damaging |
Het |
Nup88 |
C |
A |
11: 70,860,607 (GRCm39) |
L57F |
possibly damaging |
Het |
Obsl1 |
G |
T |
1: 75,480,501 (GRCm39) |
F374L |
possibly damaging |
Het |
Or51aa2 |
A |
G |
7: 103,188,183 (GRCm39) |
I86T |
possibly damaging |
Het |
Orm1 |
A |
T |
4: 63,264,355 (GRCm39) |
D137V |
probably damaging |
Het |
Osbpl2 |
T |
A |
2: 179,778,895 (GRCm39) |
D9E |
probably damaging |
Het |
P4ha3 |
G |
T |
7: 99,942,986 (GRCm39) |
D124Y |
probably damaging |
Het |
Poteg |
T |
C |
8: 27,943,354 (GRCm39) |
V208A |
probably benign |
Het |
Ppfibp1 |
A |
G |
6: 146,931,843 (GRCm39) |
D963G |
probably damaging |
Het |
Prdx6 |
G |
T |
1: 161,078,660 (GRCm39) |
D9E |
probably benign |
Het |
Prrc2b |
C |
A |
2: 32,104,666 (GRCm39) |
N1381K |
probably damaging |
Het |
Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
Rexo5 |
A |
T |
7: 119,433,508 (GRCm39) |
M422L |
probably benign |
Het |
Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
Robo2 |
A |
T |
16: 73,730,588 (GRCm39) |
I1008N |
probably damaging |
Het |
Sidt1 |
T |
A |
16: 44,106,755 (GRCm39) |
Y225F |
probably benign |
Het |
Slc6a15 |
A |
T |
10: 103,225,048 (GRCm39) |
E45D |
probably benign |
Het |
Spata31d1a |
T |
G |
13: 59,850,668 (GRCm39) |
M487L |
probably benign |
Het |
St6galnac1 |
C |
A |
11: 116,666,325 (GRCm39) |
|
probably benign |
Het |
Tcp11l2 |
A |
G |
10: 84,449,469 (GRCm39) |
Y478C |
probably damaging |
Het |
Tdrd12 |
G |
T |
7: 35,223,482 (GRCm39) |
C67* |
probably null |
Het |
Tead2 |
G |
A |
7: 44,867,505 (GRCm39) |
G78D |
probably damaging |
Het |
Tfpi2 |
A |
T |
6: 3,963,849 (GRCm39) |
N194K |
probably damaging |
Het |
Timd2 |
A |
G |
11: 46,568,027 (GRCm39) |
|
probably null |
Het |
Tmem270 |
T |
C |
5: 134,930,557 (GRCm39) |
T235A |
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,774,157 (GRCm39) |
D224G |
|
Het |
Tsga10 |
G |
T |
1: 37,840,959 (GRCm39) |
Q416K |
probably benign |
Het |
Ulk1 |
C |
A |
5: 110,935,531 (GRCm39) |
L911F |
probably damaging |
Het |
Usp8 |
T |
C |
2: 126,584,491 (GRCm39) |
S567P |
probably benign |
Het |
Vmn2r-ps158 |
C |
T |
7: 42,697,270 (GRCm39) |
P776S |
probably damaging |
Het |
Zdhhc3 |
A |
C |
9: 122,918,143 (GRCm39) |
C129G |
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 |
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 |
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'- GCCACAGTTGATAAGGTACCG -3'
(R):5'- CCAAGGTAAGATTGACCTTCCTC -3'
Sequencing Primer
(F):5'- AAAGGTTTGCCATCCCCAGTG -3'
(R):5'- GGTAAGATTGACCTTCCTCCTTCAAG -3'
|
Posted On |
2020-09-02 |