Incidental Mutation 'R5430:Ptprh'
| ID |
427126 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprh
|
| Ensembl Gene |
ENSMUSG00000035429 |
| Gene Name |
protein tyrosine phosphatase receptor type H |
| Synonyms |
SAP-1 |
| MMRRC Submission |
042996-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5430 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4551611-4607040 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4554046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 807
(E807V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049113]
[ENSMUST00000065957]
[ENSMUST00000166650]
[ENSMUST00000206023]
[ENSMUST00000206933]
[ENSMUST00000206999]
|
| AlphaFold |
E9Q0N2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049113
AA Change: E807V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042396
Gene: ENSMUSG00000035429
AA Change: E807V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
FN3
|
67 |
145 |
2.42e-9 |
SMART |
|
FN3
|
156 |
234 |
9.69e-9 |
SMART |
|
FN3
|
245 |
323 |
1.57e-8 |
SMART |
|
FN3
|
334 |
412 |
6.29e-8 |
SMART |
|
FN3
|
427 |
505 |
7.75e-8 |
SMART |
|
FN3
|
516 |
593 |
1.21e0 |
SMART |
|
transmembrane domain
|
605 |
627 |
N/A |
INTRINSIC |
|
PTPc
|
670 |
932 |
1.09e-132 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065957
|
| SMART Domains |
Protein: ENSMUSP00000070322
Gene: ENSMUSG00000004961
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
C2
|
124 |
226 |
2.8e-19 |
SMART |
|
C2
|
255 |
369 |
4.76e-22 |
SMART |
|
low complexity region
|
375 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166650
AA Change: E807V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125833
Gene: ENSMUSG00000035429
AA Change: E807V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
FN3
|
67 |
145 |
2.42e-9 |
SMART |
|
FN3
|
156 |
234 |
9.69e-9 |
SMART |
|
FN3
|
245 |
323 |
1.57e-8 |
SMART |
|
FN3
|
334 |
412 |
6.29e-8 |
SMART |
|
FN3
|
427 |
505 |
7.75e-8 |
SMART |
|
FN3
|
516 |
593 |
1.21e0 |
SMART |
|
transmembrane domain
|
605 |
627 |
N/A |
INTRINSIC |
|
PTPc
|
670 |
932 |
1.09e-132 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205417
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206023
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206933
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206999
AA Change: E807V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2207 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
96% (54/56) |
| 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. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a null alllele exhibit normal intestinal epithelial cell morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J11Rik |
T |
A |
9: 39,963,587 (GRCm39) |
|
noncoding transcript |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
| Arhgef1 |
C |
A |
7: 24,611,732 (GRCm39) |
|
probably null |
Het |
| Brsk1 |
T |
C |
7: 4,713,435 (GRCm39) |
F702L |
probably benign |
Het |
| Chrna3 |
C |
T |
9: 54,920,192 (GRCm39) |
V470I |
probably damaging |
Het |
| Cpm |
A |
G |
10: 117,511,986 (GRCm39) |
Q310R |
possibly damaging |
Het |
| Dennd5a |
T |
C |
7: 109,533,447 (GRCm39) |
T108A |
probably damaging |
Het |
| Dvl3 |
C |
T |
16: 20,342,481 (GRCm39) |
R145W |
probably damaging |
Het |
| E4f1 |
G |
A |
17: 24,663,944 (GRCm39) |
A532V |
probably damaging |
Het |
| Eid1 |
A |
G |
2: 125,515,550 (GRCm39) |
T147A |
probably damaging |
Het |
| Eipr1 |
A |
T |
12: 28,913,015 (GRCm39) |
N239Y |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,760,417 (GRCm39) |
I1777M |
probably damaging |
Het |
| Gm11787 |
A |
T |
4: 3,512,786 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
T |
C |
3: 108,005,716 (GRCm39) |
L227P |
probably damaging |
Het |
| H2-T15 |
C |
T |
17: 36,366,967 (GRCm39) |
V359I |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,943,626 (GRCm39) |
H190R |
possibly damaging |
Het |
| Kdm7a |
A |
G |
6: 39,126,276 (GRCm39) |
W570R |
possibly damaging |
Het |
| Lmbrd1 |
A |
G |
1: 24,732,061 (GRCm39) |
T93A |
possibly damaging |
Het |
| Lrch4 |
T |
C |
5: 137,636,795 (GRCm39) |
S433P |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,376,930 (GRCm39) |
R4216W |
probably damaging |
Het |
| Magohb |
A |
G |
6: 131,266,381 (GRCm39) |
Y42H |
probably damaging |
Het |
| Melk |
A |
G |
4: 44,309,033 (GRCm39) |
H130R |
probably damaging |
Het |
| Mettl24 |
G |
T |
10: 40,613,780 (GRCm39) |
R173L |
probably benign |
Het |
| Mup4 |
A |
T |
4: 59,960,044 (GRCm39) |
H73Q |
probably damaging |
Het |
| Mylk2 |
A |
T |
2: 152,759,468 (GRCm39) |
E386V |
probably damaging |
Het |
| Nppb |
C |
T |
4: 148,070,838 (GRCm39) |
P71L |
probably benign |
Het |
| Oca2 |
T |
C |
7: 55,945,208 (GRCm39) |
V272A |
probably damaging |
Het |
| Or14j6 |
T |
A |
17: 38,215,304 (GRCm39) |
I289N |
probably damaging |
Het |
| Or2t6 |
C |
T |
14: 14,175,692 (GRCm38) |
R130H |
probably benign |
Het |
| Or4c10 |
A |
T |
2: 89,760,257 (GRCm39) |
I35F |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,416,482 (GRCm39) |
S628P |
probably damaging |
Het |
| Papola |
T |
C |
12: 105,775,843 (GRCm39) |
V253A |
probably damaging |
Het |
| Pex12 |
T |
C |
11: 83,188,572 (GRCm39) |
D141G |
probably damaging |
Het |
| Ppm1k |
A |
T |
6: 57,501,871 (GRCm39) |
C97* |
probably null |
Het |
| Sema3a |
A |
T |
5: 13,615,730 (GRCm39) |
T385S |
probably damaging |
Het |
| Sfn |
T |
C |
4: 133,328,938 (GRCm39) |
Y48C |
probably damaging |
Het |
| Slc38a8 |
A |
G |
8: 120,220,959 (GRCm39) |
I200T |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,665,776 (GRCm39) |
V758A |
probably damaging |
Het |
| Stmn4 |
A |
G |
14: 66,595,463 (GRCm39) |
M190V |
possibly damaging |
Het |
| Syt3 |
T |
G |
7: 44,040,337 (GRCm39) |
L190R |
possibly damaging |
Het |
| Tbl1xr1 |
T |
A |
3: 22,246,246 (GRCm39) |
D255E |
probably benign |
Het |
| Ttbk2 |
C |
T |
2: 120,608,046 (GRCm39) |
R191H |
probably damaging |
Het |
| Vmn1r238 |
G |
T |
18: 3,122,521 (GRCm39) |
L298M |
possibly damaging |
Het |
| Vmn2r45 |
A |
C |
7: 8,486,333 (GRCm39) |
Y318* |
probably null |
Het |
| Vsig8 |
T |
C |
1: 172,387,196 (GRCm39) |
I24T |
probably damaging |
Het |
| Wdr3 |
G |
A |
3: 100,064,643 (GRCm39) |
T166I |
possibly damaging |
Het |
| Zfp354c |
A |
G |
11: 50,706,022 (GRCm39) |
I351T |
probably benign |
Het |
| Zfp52 |
A |
G |
17: 21,775,329 (GRCm39) |
T8A |
probably benign |
Het |
|
| Other mutations in Ptprh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01766:Ptprh
|
APN |
7 |
4,583,915 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02420:Ptprh
|
APN |
7 |
4,583,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02619:Ptprh
|
APN |
7 |
4,552,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02729:Ptprh
|
APN |
7 |
4,583,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB008:Ptprh
|
UTSW |
7 |
4,574,987 (GRCm39) |
missense |
probably benign |
0.03 |
|
BB018:Ptprh
|
UTSW |
7 |
4,574,987 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0018:Ptprh
|
UTSW |
7 |
4,604,845 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0049:Ptprh
|
UTSW |
7 |
4,576,361 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0449:Ptprh
|
UTSW |
7 |
4,601,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0477:Ptprh
|
UTSW |
7 |
4,600,997 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0626:Ptprh
|
UTSW |
7 |
4,567,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0741:Ptprh
|
UTSW |
7 |
4,557,172 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1068:Ptprh
|
UTSW |
7 |
4,552,462 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1226:Ptprh
|
UTSW |
7 |
4,606,091 (GRCm39) |
nonsense |
probably null |
|
|
R1487:Ptprh
|
UTSW |
7 |
4,555,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1495:Ptprh
|
UTSW |
7 |
4,583,888 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1537:Ptprh
|
UTSW |
7 |
4,552,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Ptprh
|
UTSW |
7 |
4,555,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Ptprh
|
UTSW |
7 |
4,604,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1920:Ptprh
|
UTSW |
7 |
4,552,394 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2082:Ptprh
|
UTSW |
7 |
4,553,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2180:Ptprh
|
UTSW |
7 |
4,604,867 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2214:Ptprh
|
UTSW |
7 |
4,555,921 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2245:Ptprh
|
UTSW |
7 |
4,576,345 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2271:Ptprh
|
UTSW |
7 |
4,606,132 (GRCm39) |
start gained |
probably benign |
|
|
R3693:Ptprh
|
UTSW |
7 |
4,557,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3713:Ptprh
|
UTSW |
7 |
4,574,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4081:Ptprh
|
UTSW |
7 |
4,583,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4205:Ptprh
|
UTSW |
7 |
4,600,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4689:Ptprh
|
UTSW |
7 |
4,600,996 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4782:Ptprh
|
UTSW |
7 |
4,572,576 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4838:Ptprh
|
UTSW |
7 |
4,576,429 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4974:Ptprh
|
UTSW |
7 |
4,554,006 (GRCm39) |
splice site |
probably null |
|
|
R5218:Ptprh
|
UTSW |
7 |
4,600,919 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5533:Ptprh
|
UTSW |
7 |
4,552,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5544:Ptprh
|
UTSW |
7 |
4,583,909 (GRCm39) |
nonsense |
probably null |
|
|
R5547:Ptprh
|
UTSW |
7 |
4,557,221 (GRCm39) |
nonsense |
probably null |
|
|
R5869:Ptprh
|
UTSW |
7 |
4,604,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5928:Ptprh
|
UTSW |
7 |
4,576,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:Ptprh
|
UTSW |
7 |
4,576,361 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6112:Ptprh
|
UTSW |
7 |
4,600,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6493:Ptprh
|
UTSW |
7 |
4,583,989 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6733:Ptprh
|
UTSW |
7 |
4,606,043 (GRCm39) |
splice site |
probably null |
|
|
R6836:Ptprh
|
UTSW |
7 |
4,554,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6859:Ptprh
|
UTSW |
7 |
4,552,370 (GRCm39) |
nonsense |
probably null |
|
|
R6868:Ptprh
|
UTSW |
7 |
4,604,864 (GRCm39) |
missense |
probably benign |
|
|
R7015:Ptprh
|
UTSW |
7 |
4,555,626 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7092:Ptprh
|
UTSW |
7 |
4,583,860 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7147:Ptprh
|
UTSW |
7 |
4,553,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7177:Ptprh
|
UTSW |
7 |
4,572,480 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7358:Ptprh
|
UTSW |
7 |
4,554,006 (GRCm39) |
splice site |
probably null |
|
|
R7436:Ptprh
|
UTSW |
7 |
4,555,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7512:Ptprh
|
UTSW |
7 |
4,574,780 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7863:Ptprh
|
UTSW |
7 |
4,606,097 (GRCm39) |
start codon destroyed |
probably benign |
0.31 |
|
R7931:Ptprh
|
UTSW |
7 |
4,574,987 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7973:Ptprh
|
UTSW |
7 |
4,583,887 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8239:Ptprh
|
UTSW |
7 |
4,584,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8331:Ptprh
|
UTSW |
7 |
4,552,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8688:Ptprh
|
UTSW |
7 |
4,554,022 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8700:Ptprh
|
UTSW |
7 |
4,567,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8716:Ptprh
|
UTSW |
7 |
4,567,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Ptprh
|
UTSW |
7 |
4,583,944 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9119:Ptprh
|
UTSW |
7 |
4,555,712 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9203:Ptprh
|
UTSW |
7 |
4,574,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9213:Ptprh
|
UTSW |
7 |
4,583,911 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9250:Ptprh
|
UTSW |
7 |
4,576,289 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF022:Ptprh
|
UTSW |
7 |
4,552,367 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ptprh
|
UTSW |
7 |
4,601,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ptprh
|
UTSW |
7 |
4,600,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACGAGAGAGTCTGCTGTTCTTTC -3'
(R):5'- GCATACTCATTCCCCACAGG -3'
Sequencing Primer
(F):5'- AGAGAGTCTGCTGTTCTTTCATCTG -3'
(R):5'- GGTACCACCACCACCACC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation