Incidental Mutation 'R1311:Ptpn5'
| ID |
244134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn5
|
| Ensembl Gene |
ENSMUSG00000030854 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 5 |
| Synonyms |
Step |
| MMRRC Submission |
039377-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1311 (G1)
|
| Quality Score |
52 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
46727543-46783432 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 46728980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033142]
[ENSMUST00000033142]
[ENSMUST00000033142]
[ENSMUST00000033142]
[ENSMUST00000033142]
[ENSMUST00000102626]
[ENSMUST00000102626]
[ENSMUST00000102626]
[ENSMUST00000102626]
[ENSMUST00000102626]
|
| AlphaFold |
P54830 |
| Predicted Effect |
probably benign
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 benign
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 benign
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 benign
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 benign
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 benign
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 |
probably benign
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 |
probably benign
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 |
probably benign
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 |
probably benign
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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217248
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.1%
- 20x: 86.2%
|
| Validation Efficiency |
98% (42/43) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
T |
C |
2: 58,170,261 (GRCm39) |
Q449R |
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,759,007 (GRCm39) |
Y195H |
possibly damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,648,111 (GRCm39) |
N1939K |
probably damaging |
Het |
| Cd209c |
T |
A |
8: 3,995,908 (GRCm39) |
M1L |
probably benign |
Het |
| Ckb |
TCCACCACCA |
TCCACCA |
12: 111,636,079 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
A |
G |
10: 61,699,789 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,817,286 (GRCm39) |
V1640A |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,781,088 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,932,706 (GRCm39) |
T1409I |
probably damaging |
Het |
| Gm4884 |
G |
C |
7: 40,692,539 (GRCm39) |
E169D |
possibly damaging |
Het |
| Gm5709 |
T |
C |
3: 59,526,100 (GRCm39) |
|
noncoding transcript |
Het |
| Htr2b |
C |
A |
1: 86,038,346 (GRCm39) |
A87S |
probably damaging |
Het |
| Kansl2 |
G |
T |
15: 98,426,797 (GRCm39) |
H275N |
possibly damaging |
Het |
| Megf6 |
G |
A |
4: 154,348,239 (GRCm39) |
|
probably null |
Het |
| Mtpn |
A |
G |
6: 35,489,185 (GRCm39) |
I113T |
possibly damaging |
Het |
| Myh6 |
G |
T |
14: 55,183,822 (GRCm39) |
A1704E |
probably damaging |
Het |
| Notum |
C |
T |
11: 120,546,575 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Olfml1 |
T |
C |
7: 107,167,103 (GRCm39) |
|
probably null |
Het |
| Or14c41 |
T |
A |
7: 86,235,161 (GRCm39) |
V226D |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,990,854 (GRCm39) |
F985L |
probably benign |
Het |
| Slc7a7 |
A |
T |
14: 54,610,487 (GRCm39) |
Y386* |
probably null |
Het |
| Snph |
G |
T |
2: 151,439,122 (GRCm39) |
P36Q |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,915,868 (GRCm39) |
C838R |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Supt7l |
T |
C |
5: 31,677,605 (GRCm39) |
Y187C |
probably damaging |
Het |
| Sycp2l |
A |
T |
13: 41,288,661 (GRCm39) |
K241* |
probably null |
Het |
| Tenm2 |
G |
T |
11: 35,959,421 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
A |
G |
16: 4,377,290 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
T |
C |
11: 82,335,122 (GRCm39) |
Y643H |
probably damaging |
Het |
| Tmem200c |
A |
T |
17: 69,147,758 (GRCm39) |
S114C |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,679,342 (GRCm39) |
I4850T |
possibly damaging |
Het |
| Zmym6 |
G |
T |
4: 127,017,151 (GRCm39) |
L977F |
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 |
|
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 |
|
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'- TCGCATGTCTGGATCATGCCAC -3'
(R):5'- TTCACATCCTGGCCTGACCAGAAG -3'
Sequencing Primer
(F):5'- GCTTAGAGAGACCAACTCTTCC -3'
(R):5'- TGCACCTGGTACGGGAAG -3'
|
| Posted On |
2014-10-28 |
Incidental Mutation