Incidental Mutation 'R3437:Pter'
ID |
267219 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pter
|
Ensembl Gene |
ENSMUSG00000026730 |
Gene Name |
phosphotriesterase related |
Synonyms |
Mpr56-1 |
MMRRC Submission |
040655-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R3437 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
12928852-13008266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 13005805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 326
(L326H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117009
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028063]
[ENSMUST00000061545]
[ENSMUST00000114796]
[ENSMUST00000134794]
[ENSMUST00000154269]
|
AlphaFold |
Q60866 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028063
|
SMART Domains |
Protein: ENSMUSP00000028063 Gene: ENSMUSG00000026730
Domain | Start | End | E-Value | Type |
Pfam:PTE
|
15 |
260 |
1.8e-105 |
PFAM |
Pfam:TatD_DNase
|
66 |
252 |
3.5e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000061545
|
SMART Domains |
Protein: ENSMUSP00000056188 Gene: ENSMUSG00000049630
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:Collagen
|
59 |
116 |
2.6e-11 |
PFAM |
C1Q
|
120 |
255 |
2.92e-35 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114796
|
SMART Domains |
Protein: ENSMUSP00000110444 Gene: ENSMUSG00000026730
Domain | Start | End | E-Value | Type |
Pfam:PTE
|
15 |
62 |
1.9e-13 |
PFAM |
Pfam:PTE
|
52 |
253 |
4.6e-87 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134794
AA Change: L326H
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000117009 Gene: ENSMUSG00000026730 AA Change: L326H
Domain | Start | End | E-Value | Type |
Pfam:PTE
|
15 |
347 |
1e-153 |
PFAM |
Pfam:TatD_DNase
|
67 |
300 |
1.9e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154269
|
SMART Domains |
Protein: ENSMUSP00000118645 Gene: ENSMUSG00000026730
Domain | Start | End | E-Value | Type |
Pfam:PTE
|
15 |
181 |
1e-66 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193430
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195521
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
G |
6: 121,616,253 (GRCm39) |
L127R |
probably null |
Het |
Ambp |
T |
C |
4: 63,067,721 (GRCm39) |
E163G |
probably benign |
Het |
Amy1 |
G |
A |
3: 113,349,658 (GRCm39) |
A504V |
probably damaging |
Het |
Angptl3 |
A |
T |
4: 98,921,540 (GRCm39) |
K219N |
probably benign |
Het |
Atp6v1g1 |
A |
G |
4: 63,468,255 (GRCm39) |
N86S |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,713,612 (GRCm39) |
V290A |
probably benign |
Het |
Bad |
A |
G |
19: 6,919,799 (GRCm39) |
R37G |
probably benign |
Het |
Bicra |
T |
C |
7: 15,723,223 (GRCm39) |
D98G |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,392,435 (GRCm39) |
|
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,474,889 (GRCm39) |
T650M |
unknown |
Het |
Cyp11b2 |
T |
C |
15: 74,727,298 (GRCm39) |
R128G |
probably benign |
Het |
Dst |
T |
C |
1: 34,229,303 (GRCm39) |
S1974P |
probably damaging |
Het |
Fabp1 |
T |
C |
6: 71,178,595 (GRCm39) |
L24P |
probably benign |
Het |
Flnb |
T |
C |
14: 7,942,057 (GRCm38) |
V2345A |
probably damaging |
Het |
Gmnc |
G |
T |
16: 26,779,217 (GRCm39) |
H221Q |
probably benign |
Het |
Homer1 |
T |
C |
13: 93,502,929 (GRCm39) |
|
probably benign |
Het |
Kit |
A |
G |
5: 75,806,565 (GRCm39) |
D690G |
probably damaging |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Mc3r |
C |
T |
2: 172,091,588 (GRCm39) |
T270I |
probably benign |
Het |
Mrgpra3 |
A |
C |
7: 47,239,314 (GRCm39) |
L204W |
probably damaging |
Het |
Mroh1 |
C |
T |
15: 76,317,808 (GRCm39) |
T839I |
possibly damaging |
Het |
Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
Or2n1d |
A |
G |
17: 38,646,323 (GRCm39) |
I92V |
probably damaging |
Het |
Or5af1 |
A |
T |
11: 58,722,150 (GRCm39) |
M57L |
probably damaging |
Het |
P4ha3 |
C |
T |
7: 99,934,831 (GRCm39) |
A31V |
possibly damaging |
Het |
Plch2 |
A |
G |
4: 155,075,470 (GRCm39) |
|
probably null |
Het |
Plpp2 |
A |
T |
10: 79,363,647 (GRCm39) |
|
probably null |
Het |
Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
Pwwp2a |
C |
T |
11: 43,597,015 (GRCm39) |
Q452* |
probably null |
Het |
Slc8a2 |
T |
G |
7: 15,892,810 (GRCm39) |
V824G |
probably damaging |
Het |
Slfn2 |
A |
T |
11: 82,960,390 (GRCm39) |
H123L |
probably benign |
Het |
Tmem132e |
A |
G |
11: 82,335,156 (GRCm39) |
Y654C |
probably damaging |
Het |
Trim14 |
C |
T |
4: 46,523,739 (GRCm39) |
V100I |
possibly damaging |
Het |
Tro |
G |
A |
X: 149,429,252 (GRCm39) |
|
probably benign |
Het |
Uspl1 |
T |
A |
5: 149,151,507 (GRCm39) |
|
probably benign |
Het |
Uty |
A |
G |
Y: 1,158,336 (GRCm39) |
I522T |
probably benign |
Het |
Vmn1r120 |
A |
C |
7: 20,787,582 (GRCm39) |
L43W |
probably damaging |
Het |
Vmn2r16 |
A |
T |
5: 109,478,362 (GRCm39) |
D39V |
probably damaging |
Het |
Washc4 |
T |
A |
10: 83,405,866 (GRCm39) |
I454N |
probably benign |
Het |
Wnt16 |
T |
C |
6: 22,298,133 (GRCm39) |
V333A |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,096,644 (GRCm39) |
|
probably null |
Het |
Zfy1 |
A |
T |
Y: 726,357 (GRCm39) |
D469E |
possibly damaging |
Het |
|
Other mutations in Pter |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4812001:Pter
|
UTSW |
2 |
12,985,179 (GRCm39) |
missense |
probably damaging |
0.97 |
R0015:Pter
|
UTSW |
2 |
13,005,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Pter
|
UTSW |
2 |
13,005,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R0325:Pter
|
UTSW |
2 |
13,005,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R0383:Pter
|
UTSW |
2 |
13,005,753 (GRCm39) |
nonsense |
probably null |
|
R1452:Pter
|
UTSW |
2 |
12,983,432 (GRCm39) |
splice site |
probably benign |
|
R1538:Pter
|
UTSW |
2 |
12,983,417 (GRCm39) |
missense |
probably benign |
0.02 |
R1699:Pter
|
UTSW |
2 |
12,999,572 (GRCm39) |
missense |
probably damaging |
0.97 |
R2083:Pter
|
UTSW |
2 |
12,983,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R5707:Pter
|
UTSW |
2 |
12,982,991 (GRCm39) |
utr 5 prime |
probably benign |
|
R6267:Pter
|
UTSW |
2 |
12,983,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R6298:Pter
|
UTSW |
2 |
12,983,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R6329:Pter
|
UTSW |
2 |
12,985,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R7842:Pter
|
UTSW |
2 |
12,983,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R7894:Pter
|
UTSW |
2 |
12,999,566 (GRCm39) |
missense |
probably damaging |
0.99 |
R8218:Pter
|
UTSW |
2 |
12,985,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R8415:Pter
|
UTSW |
2 |
13,005,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R8813:Pter
|
UTSW |
2 |
12,985,114 (GRCm39) |
missense |
probably benign |
0.32 |
R8862:Pter
|
UTSW |
2 |
12,985,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R9429:Pter
|
UTSW |
2 |
12,985,112 (GRCm39) |
missense |
probably benign |
0.00 |
R9452:Pter
|
UTSW |
2 |
12,985,111 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Pter
|
UTSW |
2 |
13,005,752 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCACAGCATGTACAGGAGTG -3'
(R):5'- GTGACCATTCACCAGTTCTATGTAG -3'
Sequencing Primer
(F):5'- GTGAAAGGTAACATCTCACATGTG -3'
(R):5'- CATTCACCAGTTCTATGTAGACTGG -3'
|
Posted On |
2015-02-18 |