Incidental Mutation 'R9654:Pex5l'
| ID |
727249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex5l
|
| Ensembl Gene |
ENSMUSG00000027674 |
| Gene Name |
peroxisomal biogenesis factor 5-like |
| Synonyms |
PXR2, TRIP8b, Pex2, 1700016J08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.574)
|
| Stock # |
R9654 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
33003557-33197396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 33010827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 384
(A384S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078226]
[ENSMUST00000108221]
[ENSMUST00000108224]
[ENSMUST00000108225]
[ENSMUST00000108226]
[ENSMUST00000192093]
[ENSMUST00000193289]
[ENSMUST00000193681]
[ENSMUST00000194016]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078226
AA Change: A349S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674
AA Change: A349S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
TPR
|
349 |
382 |
6.95e-4 |
SMART |
|
Blast:TPR
|
383 |
416 |
4e-14 |
BLAST |
|
TPR
|
463 |
496 |
3.19e-3 |
SMART |
|
TPR
|
497 |
530 |
3.47e-4 |
SMART |
|
TPR
|
531 |
564 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108221
AA Change: A78S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000103856
Gene: ENSMUSG00000027674
AA Change: A78S
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
78 |
111 |
6.95e-4 |
SMART |
|
Blast:TPR
|
112 |
145 |
2e-14 |
BLAST |
|
TPR
|
192 |
225 |
3.19e-3 |
SMART |
|
TPR
|
226 |
259 |
3.47e-4 |
SMART |
|
TPR
|
260 |
293 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108224
AA Change: A325S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674
AA Change: A325S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
204 |
N/A |
INTRINSIC |
|
TPR
|
325 |
358 |
6.95e-4 |
SMART |
|
Blast:TPR
|
359 |
392 |
2e-14 |
BLAST |
|
TPR
|
439 |
472 |
3.19e-3 |
SMART |
|
TPR
|
473 |
506 |
3.47e-4 |
SMART |
|
TPR
|
507 |
540 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108225
AA Change: A349S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674
AA Change: A349S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
TPR
|
349 |
382 |
6.95e-4 |
SMART |
|
Blast:TPR
|
383 |
416 |
4e-14 |
BLAST |
|
TPR
|
463 |
496 |
3.19e-3 |
SMART |
|
TPR
|
497 |
530 |
3.47e-4 |
SMART |
|
TPR
|
531 |
564 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108226
AA Change: A301S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674
AA Change: A301S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
166 |
180 |
N/A |
INTRINSIC |
|
TPR
|
301 |
334 |
6.95e-4 |
SMART |
|
Blast:TPR
|
335 |
368 |
2e-14 |
BLAST |
|
TPR
|
415 |
448 |
3.19e-3 |
SMART |
|
TPR
|
449 |
482 |
3.47e-4 |
SMART |
|
TPR
|
483 |
516 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192093
AA Change: A349S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674
AA Change: A349S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
TPR
|
349 |
382 |
6.95e-4 |
SMART |
|
Blast:TPR
|
383 |
416 |
4e-14 |
BLAST |
|
TPR
|
463 |
496 |
3.19e-3 |
SMART |
|
TPR
|
497 |
530 |
3.47e-4 |
SMART |
|
TPR
|
531 |
564 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193289
AA Change: A384S
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674
AA Change: A384S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
148 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
TPR
|
384 |
417 |
6.95e-4 |
SMART |
|
Blast:TPR
|
418 |
451 |
4e-14 |
BLAST |
|
TPR
|
498 |
531 |
3.19e-3 |
SMART |
|
TPR
|
532 |
565 |
3.47e-4 |
SMART |
|
TPR
|
566 |
599 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193681
AA Change: A384S
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674
AA Change: A384S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
148 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
TPR
|
384 |
417 |
6.95e-4 |
SMART |
|
Blast:TPR
|
418 |
451 |
4e-14 |
BLAST |
|
TPR
|
498 |
531 |
3.19e-3 |
SMART |
|
TPR
|
532 |
565 |
3.47e-4 |
SMART |
|
TPR
|
566 |
599 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194016
AA Change: A384S
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674
AA Change: A384S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
148 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
TPR
|
384 |
417 |
6.95e-4 |
SMART |
|
Blast:TPR
|
418 |
451 |
4e-14 |
BLAST |
|
TPR
|
498 |
531 |
3.19e-3 |
SMART |
|
TPR
|
532 |
565 |
3.47e-4 |
SMART |
|
TPR
|
566 |
599 |
1.1e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted mutation lacking isoform b exhibit exhibit reduced hyperpolarization-activated current in CA1 pyramidal neuron, impaired motor learning, impaired nest-building, decreased startle reflex, and decreased depression-related behaviors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,948,916 (GRCm39) |
S938P |
possibly damaging |
Het |
| Abca17 |
G |
T |
17: 24,536,099 (GRCm39) |
H523N |
probably benign |
Het |
| Alx1 |
T |
A |
10: 102,858,093 (GRCm39) |
H202L |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,462,981 (GRCm39) |
H744L |
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,511,018 (GRCm39) |
S450T |
probably benign |
Het |
| Aoc1l1 |
T |
C |
6: 48,952,837 (GRCm39) |
L254P |
probably damaging |
Het |
| Arhgef25 |
C |
T |
10: 127,021,955 (GRCm39) |
S200N |
probably damaging |
Het |
| Arl4c |
G |
T |
1: 88,629,361 (GRCm39) |
S9* |
probably null |
Het |
| Bod1l |
A |
G |
5: 41,975,707 (GRCm39) |
M1869T |
probably benign |
Het |
| Btnl6 |
G |
A |
17: 34,733,140 (GRCm39) |
P241L |
probably damaging |
Het |
| Cacng8 |
C |
T |
7: 3,443,002 (GRCm39) |
R88W |
probably damaging |
Het |
| Ccdc154 |
C |
T |
17: 25,386,684 (GRCm39) |
T262I |
possibly damaging |
Het |
| Clmn |
C |
A |
12: 104,748,193 (GRCm39) |
E451D |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,593,904 (GRCm39) |
I3416L |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,927,156 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
A |
7: 119,641,396 (GRCm39) |
K1175* |
probably null |
Het |
| Dock8 |
C |
T |
19: 25,124,710 (GRCm39) |
R1009W |
probably damaging |
Het |
| Fhip1a |
G |
T |
3: 85,579,532 (GRCm39) |
T891K |
probably damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,230,553 (GRCm39) |
V720A |
probably benign |
Het |
| Fryl |
G |
T |
5: 73,275,801 (GRCm39) |
P121Q |
probably benign |
Het |
| H2-Q6 |
C |
T |
17: 35,644,185 (GRCm39) |
R56C |
probably damaging |
Het |
| Hbs1l |
T |
C |
10: 21,183,604 (GRCm39) |
V115A |
possibly damaging |
Het |
| Heatr5a |
G |
A |
12: 52,005,778 (GRCm39) |
P66S |
probably damaging |
Het |
| Hsd17b4 |
A |
G |
18: 50,272,533 (GRCm39) |
D44G |
probably benign |
Het |
| Idh3a |
T |
C |
9: 54,497,182 (GRCm39) |
V41A |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,664,870 (GRCm39) |
K37M |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,101,266 (GRCm39) |
T1920A |
|
Het |
| Ltn1 |
G |
C |
16: 87,207,227 (GRCm39) |
D904E |
probably benign |
Het |
| Map6 |
T |
C |
7: 98,986,166 (GRCm39) |
I893T |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,013,430 (GRCm39) |
H49R |
possibly damaging |
Het |
| Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
| Ncoa4 |
C |
A |
14: 31,896,465 (GRCm39) |
P230Q |
probably benign |
Het |
| Npy4r |
T |
A |
14: 33,869,081 (GRCm39) |
Q69L |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Nus1 |
T |
G |
10: 52,294,130 (GRCm39) |
L98R |
possibly damaging |
Het |
| Or10ag55-ps1 |
C |
T |
2: 87,115,071 (GRCm39) |
L146F |
probably benign |
Het |
| Or14c42-ps1 |
T |
A |
7: 86,210,950 (GRCm39) |
N3K |
unknown |
Het |
| Or2w4 |
T |
C |
13: 21,795,915 (GRCm39) |
T75A |
possibly damaging |
Het |
| Or4c11b |
T |
C |
2: 88,625,263 (GRCm39) |
L179S |
probably damaging |
Het |
| Or5k17 |
T |
A |
16: 58,746,752 (GRCm39) |
I61F |
probably benign |
Het |
| Pcdha11 |
A |
C |
18: 37,145,333 (GRCm39) |
T475P |
probably damaging |
Het |
| Pgk2 |
T |
A |
17: 40,518,651 (GRCm39) |
D259V |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,166,028 (GRCm39) |
M52V |
probably benign |
Het |
| Rsph6a |
T |
A |
7: 18,799,332 (GRCm39) |
L321Q |
probably damaging |
Het |
| Sugp1 |
T |
A |
8: 70,522,656 (GRCm39) |
M452K |
probably damaging |
Het |
| Sult2a6 |
T |
G |
7: 13,956,445 (GRCm39) |
D272A |
probably benign |
Het |
| Tlr6 |
A |
T |
5: 65,112,697 (GRCm39) |
L70Q |
probably damaging |
Het |
| Tmem178b |
A |
T |
6: 40,222,534 (GRCm39) |
Y83F |
probably benign |
Het |
| Tmprss4 |
C |
T |
9: 45,090,700 (GRCm39) |
|
probably null |
Het |
| Trpv4 |
A |
G |
5: 114,764,887 (GRCm39) |
L709P |
probably benign |
Het |
| Utp15 |
G |
A |
13: 98,385,668 (GRCm39) |
T519M |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,693,217 (GRCm39) |
N461S |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,818,327 (GRCm39) |
V338A |
probably benign |
Het |
|
| Other mutations in Pex5l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01397:Pex5l
|
APN |
3 |
33,006,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01621:Pex5l
|
APN |
3 |
33,069,110 (GRCm39) |
splice site |
probably null |
|
|
IGL01813:Pex5l
|
APN |
3 |
33,136,204 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02313:Pex5l
|
APN |
3 |
33,047,141 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02508:Pex5l
|
APN |
3 |
33,047,051 (GRCm39) |
splice site |
probably benign |
|
|
IGL02997:Pex5l
|
APN |
3 |
33,009,991 (GRCm39) |
splice site |
probably benign |
|
|
R0195:Pex5l
|
UTSW |
3 |
33,047,102 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0674:Pex5l
|
UTSW |
3 |
33,006,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Pex5l
|
UTSW |
3 |
33,008,685 (GRCm39) |
splice site |
probably benign |
|
|
R1500:Pex5l
|
UTSW |
3 |
33,069,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Pex5l
|
UTSW |
3 |
33,069,162 (GRCm39) |
nonsense |
probably null |
|
|
R1695:Pex5l
|
UTSW |
3 |
33,008,531 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1850:Pex5l
|
UTSW |
3 |
33,005,025 (GRCm39) |
splice site |
probably null |
|
|
R2165:Pex5l
|
UTSW |
3 |
33,007,281 (GRCm39) |
splice site |
probably null |
|
|
R2679:Pex5l
|
UTSW |
3 |
33,136,201 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2880:Pex5l
|
UTSW |
3 |
33,047,152 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2881:Pex5l
|
UTSW |
3 |
33,047,152 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3766:Pex5l
|
UTSW |
3 |
33,061,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3780:Pex5l
|
UTSW |
3 |
33,004,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3934:Pex5l
|
UTSW |
3 |
33,061,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3975:Pex5l
|
UTSW |
3 |
33,069,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4285:Pex5l
|
UTSW |
3 |
33,061,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Pex5l
|
UTSW |
3 |
33,047,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4855:Pex5l
|
UTSW |
3 |
33,196,989 (GRCm39) |
splice site |
probably benign |
|
|
R4868:Pex5l
|
UTSW |
3 |
33,006,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Pex5l
|
UTSW |
3 |
33,009,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5217:Pex5l
|
UTSW |
3 |
33,061,477 (GRCm39) |
splice site |
probably null |
|
|
R5223:Pex5l
|
UTSW |
3 |
33,012,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5362:Pex5l
|
UTSW |
3 |
33,047,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5398:Pex5l
|
UTSW |
3 |
33,006,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5829:Pex5l
|
UTSW |
3 |
33,060,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6731:Pex5l
|
UTSW |
3 |
33,012,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Pex5l
|
UTSW |
3 |
33,078,840 (GRCm39) |
splice site |
probably null |
|
|
R7452:Pex5l
|
UTSW |
3 |
33,058,467 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7549:Pex5l
|
UTSW |
3 |
33,136,184 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7563:Pex5l
|
UTSW |
3 |
33,008,625 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7757:Pex5l
|
UTSW |
3 |
33,136,300 (GRCm39) |
start gained |
probably benign |
|
|
R8030:Pex5l
|
UTSW |
3 |
33,008,568 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8143:Pex5l
|
UTSW |
3 |
33,136,658 (GRCm39) |
start gained |
probably benign |
|
|
R8242:Pex5l
|
UTSW |
3 |
33,060,184 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8919:Pex5l
|
UTSW |
3 |
33,007,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9034:Pex5l
|
UTSW |
3 |
33,006,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9422:Pex5l
|
UTSW |
3 |
33,136,401 (GRCm39) |
start gained |
probably benign |
|
|
R9585:Pex5l
|
UTSW |
3 |
33,060,091 (GRCm39) |
missense |
probably benign |
|
|
R9711:Pex5l
|
UTSW |
3 |
33,136,204 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Pex5l
|
UTSW |
3 |
33,061,308 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGGCTCTGGATCTTAAAGAC -3'
(R):5'- TTACTCGATGTTAGAAGGAGGAC -3'
Sequencing Primer
(F):5'- CTCTGGATCTTAAAGACGAGAAGCTC -3'
(R):5'- ACGTGGATCAGTCATGCTGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation