Incidental Mutation 'R4468:Prxl2b'
| ID |
329270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prxl2b
|
| Ensembl Gene |
ENSMUSG00000029059 |
| Gene Name |
peroxiredoxin like 2B |
| Synonyms |
PM/PGFS, Fam213b, 2810405K02Rik |
| MMRRC Submission |
041725-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4468 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
154980884-154983522 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 154981507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 190
(K190T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030935]
[ENSMUST00000079269]
[ENSMUST00000080559]
[ENSMUST00000105634]
[ENSMUST00000105635]
[ENSMUST00000132281]
[ENSMUST00000163732]
|
| AlphaFold |
Q9DB60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030935
AA Change: K190T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000030935
Gene: ENSMUSG00000029059
AA Change: K190T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AhpC-TSA_2
|
53 |
166 |
9.9e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079269
|
| SMART Domains |
Protein: ENSMUSP00000078252
Gene: ENSMUSG00000058183
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
99 |
498 |
1.7e-135 |
PFAM |
|
Pfam:Peptidase_M13
|
559 |
767 |
1.2e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080559
|
| SMART Domains |
Protein: ENSMUSP00000079399
Gene: ENSMUSG00000058183
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
76 |
512 |
4.8e-131 |
PFAM |
|
Pfam:Peptidase_M13
|
573 |
779 |
3.4e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105634
|
| SMART Domains |
Protein: ENSMUSP00000101259
Gene: ENSMUSG00000058183
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
76 |
512 |
1.4e-105 |
PFAM |
|
Pfam:Peptidase_M13
|
573 |
781 |
4e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105635
|
| SMART Domains |
Protein: ENSMUSP00000101260
Gene: ENSMUSG00000058183
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
76 |
475 |
1.6e-135 |
PFAM |
|
Pfam:Peptidase_M13
|
536 |
744 |
1.2e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123513
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129623
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132281
|
| SMART Domains |
Protein: ENSMUSP00000116611
Gene: ENSMUSG00000029059
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AhpC-TSA_2
|
9 |
114 |
4.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163732
|
| SMART Domains |
Protein: ENSMUSP00000131753
Gene: ENSMUSG00000058183
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
99 |
498 |
1.7e-135 |
PFAM |
|
Pfam:Peptidase_M13
|
559 |
765 |
3.3e-71 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
A |
T |
11: 116,487,781 (GRCm39) |
D160V |
possibly damaging |
Het |
| Abca2 |
A |
G |
2: 25,334,914 (GRCm39) |
Y1962C |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,522,375 (GRCm39) |
M5921L |
probably benign |
Het |
| Bmp2 |
T |
C |
2: 133,396,374 (GRCm39) |
V10A |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,937,235 (GRCm39) |
S655P |
possibly damaging |
Het |
| Ccdc33 |
G |
T |
9: 57,977,155 (GRCm39) |
T282K |
possibly damaging |
Het |
| Chd1 |
T |
C |
17: 15,980,657 (GRCm39) |
I1308T |
probably damaging |
Het |
| Clec4f |
A |
G |
6: 83,629,415 (GRCm39) |
I381T |
probably damaging |
Het |
| Ifit1bl2 |
G |
A |
19: 34,596,468 (GRCm39) |
Q383* |
probably null |
Het |
| Igkv6-15 |
A |
G |
6: 70,383,957 (GRCm39) |
V7A |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lancl2 |
T |
A |
6: 57,690,019 (GRCm39) |
L75H |
probably damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,528 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or13c7 |
G |
A |
4: 43,854,737 (GRCm39) |
V143M |
probably benign |
Het |
| Or7g29 |
C |
T |
9: 19,286,944 (GRCm39) |
V78I |
probably benign |
Het |
| Pcdha5 |
T |
C |
18: 37,095,233 (GRCm39) |
S581P |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,173,037 (GRCm39) |
|
probably null |
Het |
| Ppp2r3c |
C |
T |
12: 55,344,668 (GRCm39) |
W100* |
probably null |
Het |
| Pwwp3a |
C |
T |
10: 80,076,570 (GRCm39) |
|
probably benign |
Het |
| Rad9a |
G |
A |
19: 4,250,293 (GRCm39) |
H143Y |
probably benign |
Het |
| Riox2 |
T |
A |
16: 59,296,357 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
T |
A |
10: 51,994,452 (GRCm39) |
Y1276F |
probably damaging |
Het |
| Rps12-ps24 |
A |
G |
8: 36,493,268 (GRCm39) |
|
noncoding transcript |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
G |
A |
9: 119,584,053 (GRCm39) |
L1521F |
probably damaging |
Het |
| Shoc2 |
A |
G |
19: 54,014,845 (GRCm39) |
Y346C |
probably damaging |
Het |
| Skp1 |
C |
T |
11: 52,135,905 (GRCm39) |
T138I |
probably benign |
Het |
| Snx29 |
T |
A |
16: 11,238,565 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,761,240 (GRCm39) |
I152T |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,992,682 (GRCm39) |
D1726V |
probably damaging |
Het |
| Tns4 |
A |
T |
11: 98,961,241 (GRCm39) |
C646S |
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,893,087 (GRCm39) |
H881R |
probably benign |
Het |
| Wls |
C |
A |
3: 159,578,564 (GRCm39) |
A42E |
probably damaging |
Het |
|
| Other mutations in Prxl2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01833:Prxl2b
|
APN |
4 |
154,981,059 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03102:Prxl2b
|
APN |
4 |
154,981,058 (GRCm39) |
unclassified |
probably benign |
|
|
R1350:Prxl2b
|
UTSW |
4 |
154,982,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Prxl2b
|
UTSW |
4 |
154,981,520 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1778:Prxl2b
|
UTSW |
4 |
154,981,814 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2164:Prxl2b
|
UTSW |
4 |
154,982,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Prxl2b
|
UTSW |
4 |
154,981,531 (GRCm39) |
splice site |
probably null |
|
|
R5386:Prxl2b
|
UTSW |
4 |
154,983,462 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R6820:Prxl2b
|
UTSW |
4 |
154,982,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7437:Prxl2b
|
UTSW |
4 |
154,981,053 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
X0063:Prxl2b
|
UTSW |
4 |
154,983,410 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Prxl2b
|
UTSW |
4 |
154,983,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTCTCAACCCACAGTGG -3'
(R):5'- TGGTCAGCGGATTTTACTCTC -3'
Sequencing Primer
(F):5'- TCTGCAAGCAGAGTCATAGAGAC -3'
(R):5'- TCACTTCCCGGCACAGAGATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation