Incidental Mutation 'R9448:Ptpn6'
| ID |
714061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn6
|
| Ensembl Gene |
ENSMUSG00000004266 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 6 |
| Synonyms |
Hcph, SHP-1, hcp, Ptp1C |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.481)
|
| Stock # |
R9448 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124697670-124715672 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124709771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 23
(R23W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004377]
[ENSMUST00000112484]
[ENSMUST00000171549]
[ENSMUST00000173647]
[ENSMUST00000174265]
|
| AlphaFold |
P29351 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004377
AA Change: R23W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004377
Gene: ENSMUSG00000004266
AA Change: R23W
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
4 |
87 |
1.43e-28 |
SMART |
|
SH2
|
110 |
202 |
1.45e-29 |
SMART |
|
PTPc
|
245 |
519 |
7.51e-131 |
SMART |
|
low complexity region
|
571 |
581 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112484
AA Change: R21W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108103
Gene: ENSMUSG00000004266
AA Change: R21W
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
2 |
85 |
4.05e-28 |
SMART |
|
SH2
|
108 |
200 |
1.45e-29 |
SMART |
|
PTPc
|
243 |
517 |
7.51e-131 |
SMART |
|
low complexity region
|
569 |
579 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171549
AA Change: R23W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129124
Gene: ENSMUSG00000004266
AA Change: R23W
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
4 |
87 |
1.43e-28 |
SMART |
|
SH2
|
110 |
202 |
1.45e-29 |
SMART |
|
PTPc
|
245 |
519 |
7.51e-131 |
SMART |
|
low complexity region
|
571 |
581 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173647
AA Change: R21W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133747
Gene: ENSMUSG00000004266
AA Change: R21W
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
2 |
64 |
2.35e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174265
|
| SMART Domains |
Protein: ENSMUSP00000133991
Gene: ENSMUSG00000004266
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SH2
|
1 |
40 |
3.5e-6 |
PFAM |
|
SH2
|
69 |
161 |
1.45e-29 |
SMART |
|
PTPc
|
204 |
478 |
7.51e-131 |
SMART |
|
low complexity region
|
530 |
540 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are immunodeficient and autoimmune and exhibit neutrophilic skin lesions that disrupt hair follicles and give the motheaten appearance. Alleles vary in severity, with death occurring at 6-9 weeks postnatally due to severe pneumonitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,099,575 (GRCm39) |
V685A |
possibly damaging |
Het |
| Atg9a |
G |
T |
1: 75,162,849 (GRCm39) |
T417K |
probably benign |
Het |
| Atp6v1a |
T |
A |
16: 43,931,872 (GRCm39) |
K139* |
probably null |
Het |
| Baz1b |
T |
C |
5: 135,239,656 (GRCm39) |
I252T |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,759,338 (GRCm39) |
W380R |
|
Het |
| Cep290 |
T |
G |
10: 100,395,546 (GRCm39) |
V2118G |
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,677,773 (GRCm39) |
D352G |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,460,315 (GRCm39) |
D2581G |
|
Het |
| Diras2 |
T |
A |
13: 52,662,122 (GRCm39) |
T62S |
possibly damaging |
Het |
| Dmrt1 |
T |
C |
19: 25,523,255 (GRCm39) |
V202A |
possibly damaging |
Het |
| Dok1 |
T |
C |
6: 83,009,972 (GRCm39) |
K46E |
probably damaging |
Het |
| Dph7 |
A |
T |
2: 24,861,952 (GRCm39) |
K455M |
probably damaging |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Ehbp1 |
T |
C |
11: 22,087,881 (GRCm39) |
N426S |
probably benign |
Het |
| Exo5 |
A |
G |
4: 120,778,888 (GRCm39) |
W326R |
probably damaging |
Het |
| Fam149a |
T |
A |
8: 45,792,411 (GRCm39) |
|
probably null |
Het |
| Flii |
T |
C |
11: 60,606,393 (GRCm39) |
N1099S |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,744,406 (GRCm39) |
T381A |
possibly damaging |
Het |
| Foxl1 |
T |
C |
8: 121,855,608 (GRCm39) |
V303A |
probably benign |
Het |
| Fsd1l |
G |
T |
4: 53,694,826 (GRCm39) |
E427* |
probably null |
Het |
| Galnt18 |
A |
T |
7: 111,153,649 (GRCm39) |
I325N |
probably damaging |
Het |
| Gm5478 |
T |
C |
15: 101,553,662 (GRCm39) |
N274S |
probably damaging |
Het |
| Grm7 |
A |
T |
6: 111,335,193 (GRCm39) |
T535S |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,068,015 (GRCm39) |
D1791G |
probably benign |
Het |
| Igkv12-98 |
T |
C |
6: 68,548,156 (GRCm39) |
I95T |
probably damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,366,604 (GRCm39) |
Y46C |
probably benign |
Het |
| Inhca |
G |
T |
9: 103,149,781 (GRCm39) |
Q259K |
probably benign |
Het |
| Kdr |
T |
C |
5: 76,102,569 (GRCm39) |
E1186G |
probably benign |
Het |
| Knstrn |
T |
C |
2: 118,644,975 (GRCm39) |
|
probably null |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,666,455 (GRCm39) |
Q1383* |
probably null |
Het |
| Mep1a |
T |
C |
17: 43,805,869 (GRCm39) |
|
probably null |
Het |
| Mep1b |
A |
G |
18: 21,217,199 (GRCm39) |
D106G |
probably damaging |
Het |
| Moxd2 |
T |
C |
6: 40,864,160 (GRCm39) |
N90S |
probably benign |
Het |
| Ms4a4c |
T |
A |
19: 11,392,317 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
A |
T |
7: 23,000,956 (GRCm39) |
M84L |
probably benign |
Het |
| Noc2l |
C |
A |
4: 156,320,781 (GRCm39) |
R66S |
probably benign |
Het |
| Nox4 |
A |
T |
7: 87,045,001 (GRCm39) |
L580F |
unknown |
Het |
| Numb |
A |
G |
12: 83,888,990 (GRCm39) |
|
probably null |
Het |
| Or1l4 |
A |
G |
2: 37,091,221 (GRCm39) |
|
probably benign |
Het |
| Or5w13 |
A |
T |
2: 87,523,824 (GRCm39) |
V134E |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 117,039,360 (GRCm39) |
K274* |
probably null |
Het |
| Pcdh1 |
G |
A |
18: 38,330,492 (GRCm39) |
P976L |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,256,360 (GRCm39) |
K627E |
probably damaging |
Het |
| Pdzk1 |
A |
T |
3: 96,761,922 (GRCm39) |
D178V |
probably damaging |
Het |
| Phldb1 |
G |
T |
9: 44,622,546 (GRCm39) |
L36M |
possibly damaging |
Het |
| Pip5k1c |
A |
G |
10: 81,141,645 (GRCm39) |
E111G |
probably damaging |
Het |
| Plcb4 |
G |
A |
2: 135,752,045 (GRCm39) |
E84K |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,108,034 (GRCm39) |
Y646N |
probably benign |
Het |
| Psmc6 |
T |
C |
14: 45,568,483 (GRCm39) |
F69L |
probably benign |
Het |
| Ptk2 |
T |
A |
15: 73,215,041 (GRCm39) |
S46C |
possibly damaging |
Het |
| Ptprb |
T |
A |
10: 116,149,819 (GRCm39) |
Y143* |
probably null |
Het |
| Qrich2 |
T |
C |
11: 116,338,091 (GRCm39) |
E141G |
probably benign |
Het |
| Rsf1 |
G |
GCCGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,381,127 (GRCm39) |
L136P |
probably damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,179,704 (GRCm39) |
F676S |
probably damaging |
Het |
| Spata31f1a |
A |
T |
4: 42,850,250 (GRCm39) |
Y635* |
probably null |
Het |
| Spata31f1e |
T |
C |
4: 42,793,440 (GRCm39) |
R231G |
probably benign |
Het |
| Spata32 |
C |
T |
11: 103,099,648 (GRCm39) |
G286R |
probably damaging |
Het |
| Tbx19 |
T |
C |
1: 164,981,090 (GRCm39) |
K135E |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,936,567 (GRCm39) |
T1494A |
probably benign |
Het |
| Tmem62 |
A |
C |
2: 120,808,211 (GRCm39) |
D71A |
probably damaging |
Het |
| Tnfsf15 |
A |
T |
4: 63,663,305 (GRCm39) |
V6D |
possibly damaging |
Het |
| Tulp4 |
T |
C |
17: 6,248,948 (GRCm39) |
V182A |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,522,027 (GRCm39) |
V104D |
probably benign |
Het |
| Zdhhc8 |
C |
A |
16: 18,039,558 (GRCm39) |
G159C |
|
Het |
| Zfy2 |
A |
G |
Y: 2,109,904 (GRCm39) |
W338R |
probably damaging |
Het |
| Znfx1 |
T |
G |
2: 166,888,844 (GRCm39) |
Q788P |
probably benign |
Het |
| Zscan26 |
A |
G |
13: 21,632,431 (GRCm39) |
V100A |
probably benign |
Het |
|
| Other mutations in Ptpn6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00710:Ptpn6
|
APN |
6 |
124,709,319 (GRCm39) |
splice site |
probably null |
|
|
IGL01490:Ptpn6
|
APN |
6 |
124,705,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01865:Ptpn6
|
APN |
6 |
124,709,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02017:Ptpn6
|
APN |
6 |
124,709,449 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02272:Ptpn6
|
APN |
6 |
124,698,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02276:Ptpn6
|
APN |
6 |
124,705,828 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02556:Ptpn6
|
APN |
6 |
124,705,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
candle
|
UTSW |
6 |
124,705,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
caterpillar
|
UTSW |
6 |
124,701,947 (GRCm39) |
missense |
probably benign |
|
|
farfalla_notturna
|
UTSW |
6 |
124,709,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Flutterby
|
UTSW |
6 |
124,698,821 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Hawk
|
UTSW |
6 |
124,705,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Lepidopteran
|
UTSW |
6 |
124,705,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Malachite
|
UTSW |
6 |
124,705,614 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Moth
|
UTSW |
6 |
124,705,135 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Naphthalene
|
UTSW |
6 |
124,698,752 (GRCm39) |
missense |
probably benign |
0.42 |
|
spin
|
UTSW |
6 |
124,705,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
spin2
|
UTSW |
6 |
124,709,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Vermeil
|
UTSW |
6 |
124,709,913 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0183:Ptpn6
|
UTSW |
6 |
124,705,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0254:Ptpn6
|
UTSW |
6 |
124,705,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0636:Ptpn6
|
UTSW |
6 |
124,702,242 (GRCm39) |
missense |
probably benign |
|
|
R0835:Ptpn6
|
UTSW |
6 |
124,704,499 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1383:Ptpn6
|
UTSW |
6 |
124,698,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1638:Ptpn6
|
UTSW |
6 |
124,698,148 (GRCm39) |
missense |
probably benign |
|
|
R1900:Ptpn6
|
UTSW |
6 |
124,705,896 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2047:Ptpn6
|
UTSW |
6 |
124,698,752 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2143:Ptpn6
|
UTSW |
6 |
124,701,947 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3907:Ptpn6
|
UTSW |
6 |
124,702,239 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4082:Ptpn6
|
UTSW |
6 |
124,705,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4382:Ptpn6
|
UTSW |
6 |
124,704,361 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5319:Ptpn6
|
UTSW |
6 |
124,709,913 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5807:Ptpn6
|
UTSW |
6 |
124,701,947 (GRCm39) |
missense |
probably benign |
|
|
R5878:Ptpn6
|
UTSW |
6 |
124,705,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Ptpn6
|
UTSW |
6 |
124,709,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Ptpn6
|
UTSW |
6 |
124,709,532 (GRCm39) |
splice site |
probably null |
|
|
R7238:Ptpn6
|
UTSW |
6 |
124,698,821 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7381:Ptpn6
|
UTSW |
6 |
124,705,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7935:Ptpn6
|
UTSW |
6 |
124,709,425 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8297:Ptpn6
|
UTSW |
6 |
124,705,614 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8863:Ptpn6
|
UTSW |
6 |
124,709,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9160:Ptpn6
|
UTSW |
6 |
124,705,135 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9176:Ptpn6
|
UTSW |
6 |
124,702,249 (GRCm39) |
missense |
probably benign |
|
|
R9594:Ptpn6
|
UTSW |
6 |
124,704,728 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9756:Ptpn6
|
UTSW |
6 |
124,705,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ptpn6
|
UTSW |
6 |
124,702,039 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTATGGGCACATGCTAGGG -3'
(R):5'- TGCCCAGACAAACTGTTCCC -3'
Sequencing Primer
(F):5'- CACATGCTAGGGCGACAG -3'
(R):5'- CACATTTTCTGCAGCCAATTCAGTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation