Incidental Mutation 'R9580:Ptpn5'
| ID |
722499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn5
|
| Ensembl Gene |
ENSMUSG00000030854 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 5 |
| Synonyms |
Step |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9580 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
46727543-46783432 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46732622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 345
(Y345H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033142]
[ENSMUST00000102626]
|
| AlphaFold |
P54830 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033142
AA Change: Y345H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033142
Gene: ENSMUSG00000030854
AA Change: Y345H
| 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 damaging
Transcript: ENSMUST00000102626
AA Change: Y345H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099686
Gene: ENSMUSG00000030854
AA Change: Y345H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2b |
T |
C |
11: 62,156,145 (GRCm39) |
M198T |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,636,248 (GRCm39) |
T595A |
probably benign |
Het |
| Cep89 |
A |
T |
7: 35,102,538 (GRCm39) |
I84F |
possibly damaging |
Het |
| Eda |
G |
T |
X: 99,019,775 (GRCm39) |
R130L |
unknown |
Het |
| Erp44 |
T |
A |
4: 48,218,187 (GRCm39) |
R161* |
probably null |
Het |
| Fcsk |
A |
G |
8: 111,616,813 (GRCm39) |
W446R |
probably damaging |
Het |
| Gm12185 |
T |
G |
11: 48,799,192 (GRCm39) |
S434R |
possibly damaging |
Het |
| Hmcn2 |
G |
T |
2: 31,294,875 (GRCm39) |
A2555S |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ighv1-61 |
A |
G |
12: 115,322,993 (GRCm39) |
S40P |
possibly damaging |
Het |
| Kif26b |
C |
T |
1: 178,506,643 (GRCm39) |
Q240* |
probably null |
Het |
| Mapkap1 |
C |
T |
2: 34,509,878 (GRCm39) |
T456M |
probably damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,424,228 (GRCm39) |
N1137S |
probably damaging |
Het |
| Nectin4 |
C |
G |
1: 171,211,324 (GRCm39) |
R283G |
probably damaging |
Het |
| Nos2 |
A |
G |
11: 78,828,457 (GRCm39) |
I259V |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4c119 |
T |
C |
2: 88,987,465 (GRCm39) |
N18S |
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,265,092 (GRCm39) |
N371I |
possibly damaging |
Het |
| Ppargc1a |
A |
T |
5: 51,620,139 (GRCm39) |
N733K |
unknown |
Het |
| Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
| Rbm47 |
A |
C |
5: 66,183,877 (GRCm39) |
M242R |
possibly damaging |
Het |
| Slc12a5 |
T |
G |
2: 164,816,896 (GRCm39) |
F140V |
probably damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,803,177 (GRCm39) |
V4L |
probably benign |
Het |
| Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
| Tas2r105 |
A |
T |
6: 131,663,699 (GRCm39) |
I243K |
probably damaging |
Het |
| Tmem126b |
G |
T |
7: 90,118,231 (GRCm39) |
Y216* |
probably null |
Het |
| Usp25 |
C |
T |
16: 76,880,682 (GRCm39) |
T681I |
probably benign |
Het |
| Vmn1r206 |
C |
T |
13: 22,804,890 (GRCm39) |
A106T |
probably damaging |
Het |
| Vmn1r39 |
A |
T |
6: 66,781,915 (GRCm39) |
N134K |
probably damaging |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,812 (GRCm39) |
S296P |
probably benign |
Het |
| Zfp97 |
T |
A |
17: 17,365,243 (GRCm39) |
F247L |
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 |
|
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 |
|
Z1176:Ptpn5
|
UTSW |
7 |
46,735,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCAAAGGAGATGCTTCATGTG -3'
(R):5'- CATCCGGGTATGTAGCTCCATC -3'
Sequencing Primer
(F):5'- CTTCATGTGGGGGCACAGAG -3'
(R):5'- GGTATGTAGCTCCATCCCAAGAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation