Incidental Mutation 'R4229:Ptprv'
| ID |
320114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprv
|
| Ensembl Gene |
ENSMUSG00000097993 |
| Gene Name |
protein tyrosine phosphatase receptor type V |
| Synonyms |
Esp, OST, mOST-PTP, OST-PTP |
| MMRRC Submission |
041048-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4229 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
135036236-135060313 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 135053945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183212
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183328
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased resistance to diet-induced obesity, decreased circulating glucose levels, and decreased suseptibility to death induced by streptozotocin treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aadac |
A |
G |
3: 59,939,234 (GRCm39) |
K3E |
possibly damaging |
Het |
| Cdc14a |
A |
G |
3: 116,087,413 (GRCm39) |
S533P |
probably damaging |
Het |
| Dsc3 |
G |
A |
18: 20,098,878 (GRCm39) |
T767I |
probably damaging |
Het |
| Dse |
A |
T |
10: 34,038,740 (GRCm39) |
M221K |
probably damaging |
Het |
| Etfb |
C |
A |
7: 43,105,984 (GRCm39) |
R174S |
probably damaging |
Het |
| Gm10735 |
T |
C |
13: 113,177,743 (GRCm39) |
|
probably benign |
Het |
| Gm27013 |
A |
T |
6: 130,654,308 (GRCm39) |
S385T |
possibly damaging |
Het |
| Gsap |
A |
G |
5: 21,451,975 (GRCm39) |
D339G |
probably benign |
Het |
| H2-T24 |
G |
A |
17: 36,325,721 (GRCm39) |
A290V |
probably benign |
Het |
| Ifi44l |
A |
T |
3: 151,468,514 (GRCm39) |
C5* |
probably null |
Het |
| Lipk |
A |
G |
19: 33,997,687 (GRCm39) |
Y56C |
probably damaging |
Het |
| Mrpl21 |
A |
G |
19: 3,336,901 (GRCm39) |
I91V |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,097,984 (GRCm39) |
E492G |
probably damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,304,122 (GRCm39) |
R70G |
possibly damaging |
Het |
| Or1e1 |
A |
T |
11: 73,245,058 (GRCm39) |
T160S |
probably damaging |
Het |
| Or4k36 |
A |
G |
2: 111,146,681 (GRCm39) |
I286V |
probably damaging |
Het |
| Or4p18 |
T |
A |
2: 88,233,227 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,801 (GRCm39) |
I46N |
probably benign |
Het |
| Plaur |
T |
C |
7: 24,166,208 (GRCm39) |
V93A |
probably damaging |
Het |
| Rabep1 |
A |
G |
11: 70,799,260 (GRCm39) |
T295A |
probably benign |
Het |
| Sec24b |
G |
T |
3: 129,834,368 (GRCm39) |
Q141K |
probably benign |
Het |
| Set |
A |
G |
2: 29,959,531 (GRCm39) |
Y139C |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,467,868 (GRCm39) |
S4272P |
probably benign |
Het |
| Tmc3 |
T |
C |
7: 83,246,610 (GRCm39) |
|
probably benign |
Het |
| Tmem229a |
T |
A |
6: 24,954,831 (GRCm39) |
I308F |
probably damaging |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,585 (GRCm39) |
M60L |
probably benign |
Het |
| Zfp148 |
A |
G |
16: 33,255,133 (GRCm39) |
E41G |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,618,544 (GRCm39) |
S534P |
probably damaging |
Het |
|
| Other mutations in Ptprv |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02449:Ptprv
|
APN |
1 |
135,039,074 (GRCm39) |
exon |
noncoding transcript |
|
|
R4077:Ptprv
|
UTSW |
1 |
135,038,168 (GRCm39) |
exon |
noncoding transcript |
|
|
R4079:Ptprv
|
UTSW |
1 |
135,038,168 (GRCm39) |
exon |
noncoding transcript |
|
|
R4433:Ptprv
|
UTSW |
1 |
135,042,308 (GRCm39) |
exon |
noncoding transcript |
|
|
R4624:Ptprv
|
UTSW |
1 |
135,051,869 (GRCm39) |
exon |
noncoding transcript |
|
|
R4975:Ptprv
|
UTSW |
1 |
135,046,586 (GRCm39) |
exon |
noncoding transcript |
|
|
R5023:Ptprv
|
UTSW |
1 |
135,052,244 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R5099:Ptprv
|
UTSW |
1 |
135,046,592 (GRCm39) |
exon |
noncoding transcript |
|
|
R5260:Ptprv
|
UTSW |
1 |
135,039,998 (GRCm39) |
exon |
noncoding transcript |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGGCTGACCATCCTAGG -3'
(R):5'- AGGTCCACCTCTGAGTGTGAAC -3'
Sequencing Primer
(F):5'- ATCCTAGGAGCTGCCTCTTGG -3'
(R):5'- ACCTCTGAGTGTGAACGTCAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation