Incidental Mutation 'R3907:Ptpn6'
| ID |
310246 |
| 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 |
040908-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.481)
|
| Stock # |
R3907 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124697670-124715672 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124702239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 347
(D347G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004377]
[ENSMUST00000112484]
[ENSMUST00000171549]
[ENSMUST00000174265]
[ENSMUST00000174787]
|
| AlphaFold |
P29351 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004377
AA Change: D388G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000004377
Gene: ENSMUSG00000004266
AA Change: D388G
| 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 benign
Transcript: ENSMUST00000112484
AA Change: D386G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108103
Gene: ENSMUSG00000004266
AA Change: D386G
| 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 benign
Transcript: ENSMUST00000171549
AA Change: D388G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000129124
Gene: ENSMUSG00000004266
AA Change: D388G
| 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 |
noncoding transcript
Transcript: ENSMUST00000172613
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173228
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173315
|
| SMART Domains |
Protein: ENSMUSP00000134274
Gene: ENSMUSG00000004266
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eeoa_
|
2 |
38 |
1e-3 |
SMART |
|
PDB:3PS5|A
|
2 |
91 |
2e-41 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174265
AA Change: D347G
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133991
Gene: ENSMUSG00000004266
AA Change: D347G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174787
|
| Meta Mutation Damage Score |
0.0909 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
97% (56/58) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,392,877 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ank2 |
A |
G |
3: 126,810,547 (GRCm39) |
L513P |
probably damaging |
Het |
| Apba1 |
T |
C |
19: 23,914,870 (GRCm39) |
I690T |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,420,223 (GRCm39) |
|
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Asns |
C |
T |
6: 7,682,270 (GRCm39) |
|
probably null |
Het |
| Aspg |
T |
A |
12: 112,078,693 (GRCm39) |
Y57* |
probably null |
Het |
| Asph |
T |
C |
4: 9,474,934 (GRCm39) |
K680R |
probably benign |
Het |
| Atp2b4 |
A |
T |
1: 133,666,324 (GRCm39) |
S243T |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
| Car4 |
G |
A |
11: 84,855,183 (GRCm39) |
V141M |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,951,560 (GRCm39) |
I376V |
probably benign |
Het |
| Chrm4 |
C |
T |
2: 91,758,084 (GRCm39) |
A164V |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,928,240 (GRCm39) |
D291V |
probably benign |
Het |
| Dcaf6 |
A |
T |
1: 165,251,949 (GRCm39) |
C58* |
probably null |
Het |
| Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
| Defb4 |
A |
T |
8: 19,251,277 (GRCm39) |
Q48L |
possibly damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,578,496 (GRCm39) |
A663T |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,113,541 (GRCm39) |
|
probably null |
Het |
| E130308A19Rik |
C |
T |
4: 59,752,393 (GRCm39) |
T502I |
probably benign |
Het |
| Ephb1 |
A |
G |
9: 101,878,925 (GRCm39) |
C522R |
probably benign |
Het |
| Fam76a |
T |
C |
4: 132,643,432 (GRCm39) |
K101E |
probably damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,135,583 (GRCm39) |
|
noncoding transcript |
Het |
| Gphn |
T |
A |
12: 78,540,716 (GRCm39) |
|
probably benign |
Het |
| Hars1 |
A |
T |
18: 36,915,769 (GRCm39) |
D48E |
probably benign |
Het |
| Hmgcll1 |
G |
A |
9: 75,979,943 (GRCm39) |
R111H |
probably benign |
Het |
| Ighv3-4 |
A |
G |
12: 114,217,538 (GRCm39) |
S18P |
probably damaging |
Het |
| Iws1 |
G |
A |
18: 32,212,973 (GRCm39) |
E134K |
possibly damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
| Krt16 |
A |
G |
11: 100,137,989 (GRCm39) |
V329A |
possibly damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,496,464 (GRCm39) |
M1575L |
possibly damaging |
Het |
| Mapkapk2 |
A |
T |
1: 130,984,651 (GRCm39) |
S234T |
probably damaging |
Het |
| Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,133,071 (GRCm39) |
D905E |
possibly damaging |
Het |
| Or4c117 |
A |
C |
2: 88,955,927 (GRCm39) |
Y49* |
probably null |
Het |
| Or6z7 |
A |
T |
7: 6,483,678 (GRCm39) |
V159D |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,724,788 (GRCm39) |
Q489L |
probably damaging |
Het |
| Pced1b |
T |
C |
15: 97,282,431 (GRCm39) |
S157P |
probably damaging |
Het |
| Ppp1r16b |
T |
C |
2: 158,603,410 (GRCm39) |
I345T |
probably benign |
Het |
| Prrt4 |
G |
T |
6: 29,177,173 (GRCm39) |
L199M |
probably damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
| Rcan1 |
A |
G |
16: 92,262,917 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
C |
T |
2: 52,002,557 (GRCm39) |
L2004F |
probably benign |
Het |
| Rnf185 |
A |
G |
11: 3,376,681 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
C |
T |
7: 143,963,313 (GRCm39) |
P307L |
probably damaging |
Het |
| Slc19a3 |
G |
A |
1: 82,992,534 (GRCm39) |
R396C |
possibly damaging |
Het |
| Stn1 |
T |
C |
19: 47,496,262 (GRCm39) |
D321G |
probably damaging |
Het |
| Taar7a |
T |
C |
10: 23,868,457 (GRCm39) |
Y308C |
probably benign |
Het |
| Tespa1 |
T |
C |
10: 130,192,666 (GRCm39) |
|
probably benign |
Het |
| Tmcc2 |
T |
C |
1: 132,288,376 (GRCm39) |
D359G |
probably damaging |
Het |
| Trhde |
C |
T |
10: 114,636,601 (GRCm39) |
G202E |
possibly damaging |
Het |
| Trip12 |
T |
C |
1: 84,709,827 (GRCm39) |
T469A |
possibly damaging |
Het |
| Trip4 |
A |
G |
9: 65,740,708 (GRCm39) |
I533T |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,983 (GRCm39) |
I154T |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,733,686 (GRCm39) |
|
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,631 (GRCm39) |
T160A |
possibly damaging |
Het |
| Usp54 |
A |
T |
14: 20,636,181 (GRCm39) |
S288T |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,585,926 (GRCm39) |
|
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 |
|
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 |
|
|
R9448:Ptpn6
|
UTSW |
6 |
124,709,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGCCATATCTCCCGAACCAG -3'
(R):5'- GTATGTATCTATACACACATGCACACC -3'
Sequencing Primer
(F):5'- TATCTCCCGAACCAGGTCCC -3'
(R):5'- TATACACACATGCACACCTCCCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation