Incidental Mutation 'R6442:Ptpn5'
| ID |
519058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn5
|
| Ensembl Gene |
ENSMUSG00000030854 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 5 |
| Synonyms |
Step |
| MMRRC Submission |
044580-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
46727543-46783432 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 46732831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033142]
[ENSMUST00000102626]
|
| AlphaFold |
P54830 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033142
|
| SMART Domains |
Protein: ENSMUSP00000033142
Gene: ENSMUSG00000030854
| 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 null
Transcript: ENSMUST00000102626
|
| SMART Domains |
Protein: ENSMUSP00000099686
Gene: ENSMUSG00000030854
| 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 |
noncoding transcript
Transcript: ENSMUST00000183776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209161
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,491,481 (GRCm39) |
T695A |
probably benign |
Het |
| Btla |
A |
G |
16: 45,044,821 (GRCm39) |
N36D |
probably benign |
Het |
| Btla |
T |
C |
16: 45,070,713 (GRCm39) |
V224A |
possibly damaging |
Het |
| Cep126 |
T |
C |
9: 8,100,564 (GRCm39) |
N657D |
probably benign |
Het |
| Cops3 |
T |
A |
11: 59,718,780 (GRCm39) |
K171N |
probably benign |
Het |
| Crocc2 |
A |
G |
1: 93,112,775 (GRCm39) |
R193G |
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,214,837 (GRCm39) |
I911V |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,923,507 (GRCm39) |
|
probably null |
Het |
| Efcab5 |
A |
T |
11: 76,996,260 (GRCm39) |
Y1100* |
probably null |
Het |
| Fcgbpl1 |
C |
T |
7: 27,843,611 (GRCm39) |
T833I |
possibly damaging |
Het |
| Galnt10 |
A |
G |
11: 57,656,448 (GRCm39) |
T211A |
probably benign |
Het |
| Gdf9 |
A |
G |
11: 53,324,515 (GRCm39) |
T95A |
probably benign |
Het |
| Gm826 |
T |
A |
2: 160,169,328 (GRCm39) |
|
probably benign |
Het |
| Hsd17b6 |
C |
T |
10: 127,829,636 (GRCm39) |
|
probably null |
Het |
| Hyal4 |
A |
G |
6: 24,765,849 (GRCm39) |
N401S |
probably benign |
Het |
| Itga8 |
C |
T |
2: 12,234,954 (GRCm39) |
V435I |
probably benign |
Het |
| Nr1h5 |
G |
A |
3: 102,848,427 (GRCm39) |
P418L |
probably damaging |
Het |
| Or3a4 |
G |
A |
11: 73,945,505 (GRCm39) |
R27W |
probably benign |
Het |
| Or4f15 |
G |
A |
2: 111,813,874 (GRCm39) |
P182S |
probably damaging |
Het |
| Or4n4 |
T |
G |
14: 50,518,826 (GRCm39) |
K295Q |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,992 (GRCm39) |
|
probably benign |
Het |
| Prdm11 |
G |
A |
2: 92,805,990 (GRCm39) |
A320V |
probably benign |
Het |
| Reln |
T |
A |
5: 22,137,774 (GRCm39) |
I2473L |
probably benign |
Het |
| Rmnd5a |
A |
T |
6: 71,371,659 (GRCm39) |
C180* |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sapcd2 |
T |
A |
2: 25,266,134 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,790,350 (GRCm39) |
L462S |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,686,555 (GRCm39) |
Y425F |
possibly damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,604,760 (GRCm39) |
Y727* |
probably null |
Het |
| Tmem80 |
T |
C |
7: 140,915,839 (GRCm39) |
V83A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,551,978 (GRCm39) |
T31220A |
probably benign |
Het |
| Usp46 |
A |
T |
5: 74,177,377 (GRCm39) |
D167E |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,805,046 (GRCm39) |
D22V |
possibly damaging |
Het |
| Zswim5 |
C |
A |
4: 116,808,202 (GRCm39) |
P262Q |
probably damaging |
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 |
|
R4244:Ptpn5
|
UTSW |
7 |
46,741,296 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- GTGGCGATGTACACCTTCTC -3'
(R):5'- ACAGCACTTACTGGCTGTGATC -3'
Sequencing Primer
(F):5'- ACTGTAGCCCTGCAGCCAC -3'
(R):5'- CACTTACTGGCTGTGATCTCAGAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation