Incidental Mutation 'R4244:Ptpn5'
| ID |
320340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn5
|
| Ensembl Gene |
ENSMUSG00000030854 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 5 |
| Synonyms |
Step |
| MMRRC Submission |
041060-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4244 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
46727543-46783432 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 46741296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 38
(W38*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033142]
[ENSMUST00000102626]
|
| AlphaFold |
P54830 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033142
AA Change: M16I
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000033142
Gene: ENSMUSG00000030854
AA Change: M16I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
155 |
N/A |
INTRINSIC |
|
PTPc
|
275 |
533 |
2.39e-115 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102626
AA Change: M16I
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099686
Gene: ENSMUSG00000030854
AA Change: M16I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
155 |
N/A |
INTRINSIC |
|
PTPc
|
275 |
533 |
2.39e-115 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107617
AA Change: M16I
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000103242
Gene: ENSMUSG00000030854
AA Change: M16I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
155 |
N/A |
INTRINSIC |
|
Pfam:Y_phosphatase
|
299 |
345 |
2e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126370
AA Change: W50*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000139057
AA Change: W38*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208531
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit normal brain development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
| Ap1g1 |
G |
A |
8: 110,560,122 (GRCm39) |
S281N |
probably benign |
Het |
| Arfgef3 |
C |
A |
10: 18,506,168 (GRCm39) |
G878V |
probably damaging |
Het |
| Ccdc137 |
T |
C |
11: 120,352,844 (GRCm39) |
F196S |
probably damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,296,838 (GRCm39) |
Q214* |
probably null |
Het |
| Ccrl2 |
T |
C |
9: 110,884,422 (GRCm39) |
I359V |
probably benign |
Het |
| Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
| Cfap20dc |
T |
C |
14: 8,482,521 (GRCm38) |
T551A |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,714,361 (GRCm39) |
T1683K |
unknown |
Het |
| Copa |
A |
G |
1: 171,938,285 (GRCm39) |
I524V |
probably benign |
Het |
| Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
| Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,012,031 (GRCm39) |
F1348L |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 105,002,629 (GRCm39) |
K5664I |
probably damaging |
Het |
| Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9892 |
A |
T |
8: 52,649,435 (GRCm39) |
|
noncoding transcript |
Het |
| Grm4 |
A |
G |
17: 27,721,709 (GRCm39) |
I144T |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Krt28 |
G |
T |
11: 99,265,376 (GRCm39) |
S97Y |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,979,258 (GRCm39) |
Y1204H |
possibly damaging |
Het |
| Mfsd2b |
G |
T |
12: 4,924,356 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,605,157 (GRCm39) |
D972G |
probably damaging |
Het |
| Or2ak6 |
T |
G |
11: 58,593,277 (GRCm39) |
L250R |
probably damaging |
Het |
| Or2y3 |
C |
T |
17: 38,393,321 (GRCm39) |
V183I |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,979,632 (GRCm39) |
T244A |
probably benign |
Het |
| Prex1 |
G |
A |
2: 166,412,256 (GRCm39) |
R392W |
probably damaging |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,572,345 (GRCm39) |
I209V |
probably benign |
Het |
| Sh3d21 |
C |
T |
4: 126,044,511 (GRCm39) |
|
probably benign |
Het |
| Slc27a1 |
A |
G |
8: 72,037,617 (GRCm39) |
T535A |
probably benign |
Het |
| Slc5a5 |
A |
G |
8: 71,342,930 (GRCm39) |
V210A |
probably benign |
Het |
| Snx25 |
A |
G |
8: 46,558,291 (GRCm39) |
C239R |
probably damaging |
Het |
| Sp5 |
T |
C |
2: 70,307,382 (GRCm39) |
F356L |
probably damaging |
Het |
| Spaca9 |
T |
C |
2: 28,582,998 (GRCm39) |
I141V |
probably benign |
Het |
| Tbcd |
T |
A |
11: 121,485,107 (GRCm39) |
L763H |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,059 (GRCm39) |
E271G |
probably benign |
Het |
| Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
| Vwa5a |
T |
C |
9: 38,649,112 (GRCm39) |
|
probably benign |
Het |
| Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
| Zscan29 |
C |
T |
2: 120,995,275 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ptpn5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01508:Ptpn5
|
APN |
7 |
46,741,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01557:Ptpn5
|
APN |
7 |
46,731,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01691:Ptpn5
|
APN |
7 |
46,732,906 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02051:Ptpn5
|
APN |
7 |
46,732,507 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4696001:Ptpn5
|
UTSW |
7 |
46,738,354 (GRCm39) |
missense |
probably benign |
|
|
R0309:Ptpn5
|
UTSW |
7 |
46,729,042 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0325:Ptpn5
|
UTSW |
7 |
46,740,507 (GRCm39) |
missense |
probably benign |
|
|
R0325:Ptpn5
|
UTSW |
7 |
46,740,506 (GRCm39) |
missense |
probably benign |
|
|
R0414:Ptpn5
|
UTSW |
7 |
46,732,884 (GRCm39) |
missense |
probably benign |
|
|
R0570:Ptpn5
|
UTSW |
7 |
46,728,681 (GRCm39) |
splice site |
probably benign |
|
|
R0885:Ptpn5
|
UTSW |
7 |
46,738,359 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1311:Ptpn5
|
UTSW |
7 |
46,728,980 (GRCm39) |
splice site |
probably benign |
|
|
R1501:Ptpn5
|
UTSW |
7 |
46,739,623 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1772:Ptpn5
|
UTSW |
7 |
46,740,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1815:Ptpn5
|
UTSW |
7 |
46,728,589 (GRCm39) |
missense |
probably benign |
|
|
R1913:Ptpn5
|
UTSW |
7 |
46,728,616 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2109:Ptpn5
|
UTSW |
7 |
46,735,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2112:Ptpn5
|
UTSW |
7 |
46,732,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2184:Ptpn5
|
UTSW |
7 |
46,738,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4551:Ptpn5
|
UTSW |
7 |
46,740,600 (GRCm39) |
intron |
probably benign |
|
|
R5353:Ptpn5
|
UTSW |
7 |
46,731,642 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5897:Ptpn5
|
UTSW |
7 |
46,729,262 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6442:Ptpn5
|
UTSW |
7 |
46,732,831 (GRCm39) |
splice site |
probably null |
|
|
R7549:Ptpn5
|
UTSW |
7 |
46,735,874 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7960:Ptpn5
|
UTSW |
7 |
46,729,295 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9308:Ptpn5
|
UTSW |
7 |
46,740,569 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9580:Ptpn5
|
UTSW |
7 |
46,732,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ptpn5
|
UTSW |
7 |
46,735,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGAAACCCATGACATCC -3'
(R):5'- CGTAGCTTGTTCTGACGAAGG -3'
Sequencing Primer
(F):5'- TGGTGAAACCCATGACATCCTTACC -3'
(R):5'- TCTGACGAAGGTAGGTGAATATTGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation