Incidental Mutation 'R6295:Ptpn14'
| ID |
508691 |
| 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 |
044463-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6295 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
189460465-189608892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 189582997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 615
(P615S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027898]
[ENSMUST00000097442]
|
| AlphaFold |
Q62130 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027898
|
| SMART Domains |
Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604
| 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: P615S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: P615S
| 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: ENSMUST00000195038
|
| Meta Mutation Damage Score |
0.0717 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (49/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
C |
12: 118,838,379 (GRCm39) |
V1061G |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,781,413 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
A |
G |
7: 105,215,902 (GRCm39) |
F112L |
probably benign |
Het |
| Atg9a |
A |
G |
1: 75,161,702 (GRCm39) |
S615P |
probably benign |
Het |
| Atp8a2 |
G |
A |
14: 60,249,848 (GRCm39) |
R548* |
probably null |
Het |
| Bbof1 |
A |
T |
12: 84,457,942 (GRCm39) |
N69I |
possibly damaging |
Het |
| Bcl2l14 |
T |
A |
6: 134,404,370 (GRCm39) |
V186D |
probably benign |
Het |
| Bmp1 |
T |
G |
14: 70,728,823 (GRCm39) |
Y583S |
possibly damaging |
Het |
| Boc |
A |
C |
16: 44,312,711 (GRCm39) |
S586R |
probably benign |
Het |
| Btbd9 |
A |
T |
17: 30,518,710 (GRCm39) |
|
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,317,919 (GRCm39) |
M1180V |
probably damaging |
Het |
| Ciao1 |
T |
C |
2: 127,088,376 (GRCm39) |
H149R |
probably damaging |
Het |
| Cops5 |
T |
C |
1: 10,100,920 (GRCm39) |
|
probably benign |
Het |
| Doc2b |
C |
T |
11: 75,671,093 (GRCm39) |
R209Q |
probably damaging |
Het |
| Doc2b |
T |
C |
11: 75,686,451 (GRCm39) |
Y90C |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,901,675 (GRCm39) |
F481L |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,061,229 (GRCm39) |
|
probably null |
Het |
| Fbxw16 |
T |
A |
9: 109,277,837 (GRCm39) |
|
probably benign |
Het |
| Fbxw27 |
T |
C |
9: 109,601,154 (GRCm39) |
E17G |
possibly damaging |
Het |
| Gm29735 |
G |
A |
7: 141,710,367 (GRCm39) |
P162S |
unknown |
Het |
| Gypa |
T |
G |
8: 81,222,969 (GRCm39) |
S24R |
unknown |
Het |
| Hdhd5 |
T |
C |
6: 120,495,485 (GRCm39) |
N153D |
probably benign |
Het |
| Ibsp |
C |
A |
5: 104,449,987 (GRCm39) |
|
probably null |
Het |
| Klhdc3 |
C |
T |
17: 46,988,972 (GRCm39) |
V73I |
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,388,459 (GRCm39) |
E2322G |
unknown |
Het |
| Lrrtm3 |
T |
C |
10: 63,765,913 (GRCm39) |
H558R |
probably benign |
Het |
| Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,458,978 (GRCm39) |
V64A |
possibly damaging |
Het |
| Nthl1 |
C |
T |
17: 24,857,475 (GRCm39) |
R251C |
probably damaging |
Het |
| Numa1 |
G |
A |
7: 101,649,974 (GRCm39) |
R1235H |
probably benign |
Het |
| Opn1sw |
T |
A |
6: 29,379,413 (GRCm39) |
Y197F |
possibly damaging |
Het |
| Or10a3m |
T |
C |
7: 108,312,845 (GRCm39) |
V95A |
probably damaging |
Het |
| Pcca |
A |
T |
14: 122,896,187 (GRCm39) |
I268F |
probably benign |
Het |
| Per2 |
A |
T |
1: 91,377,594 (GRCm39) |
D76E |
unknown |
Het |
| Pfas |
T |
C |
11: 68,888,825 (GRCm39) |
N374S |
probably benign |
Het |
| Pomk |
C |
A |
8: 26,472,955 (GRCm39) |
V333F |
probably damaging |
Het |
| Ptgfr |
T |
C |
3: 151,540,926 (GRCm39) |
E194G |
probably benign |
Het |
| Pyroxd1 |
T |
C |
6: 142,300,479 (GRCm39) |
I203T |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,087,520 (GRCm39) |
N466S |
probably benign |
Het |
| Rpl3l |
G |
A |
17: 24,952,966 (GRCm39) |
V309I |
probably benign |
Het |
| Rtkn2 |
C |
T |
10: 67,815,529 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
C |
T |
2: 26,318,253 (GRCm39) |
A1613T |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,874,103 (GRCm39) |
T33S |
probably damaging |
Het |
| Slc22a4 |
C |
A |
11: 53,898,634 (GRCm39) |
V153F |
possibly damaging |
Het |
| Stxbp1 |
C |
G |
2: 32,684,621 (GRCm39) |
E603Q |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,559,831 (GRCm39) |
S1291G |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,687,572 (GRCm39) |
L1144M |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Vmn1r201 |
T |
C |
13: 22,659,533 (GRCm39) |
V249A |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,888,182 (GRCm39) |
C552S |
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 |
|
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'- GTGAGCACTCCAGAACTAGC -3'
(R):5'- AGCCATGGGGATATTGAGTG -3'
Sequencing Primer
(F):5'- AACATGCAGCTCCAAGGAG -3'
(R):5'- AGTGACTTCAGTGTCATGGCCTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation