Incidental Mutation 'IGL02946:Prr5l'
| ID |
364754 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prr5l
|
| Ensembl Gene |
ENSMUSG00000032841 |
| Gene Name |
proline rich 5 like |
| Synonyms |
2600010E01Rik, 4833411O04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL02946
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
101544630-101713372 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 101602529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043845]
[ENSMUST00000124802]
[ENSMUST00000125985]
[ENSMUST00000144549]
[ENSMUST00000154525]
[ENSMUST00000163762]
[ENSMUST00000171088]
|
| AlphaFold |
A2AVJ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043845
AA Change: R37L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042167
Gene: ENSMUSG00000032841
AA Change: R37L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Pfam:HbrB
|
47 |
152 |
5.4e-15 |
PFAM |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124802
AA Change: R37L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118502
Gene: ENSMUSG00000032841
AA Change: R37L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125985
AA Change: R37L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122996
Gene: ENSMUSG00000032841
AA Change: R37L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Pfam:HbrB
|
45 |
128 |
3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140387
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141814
|
| SMART Domains |
Protein: ENSMUSP00000118537
Gene: ENSMUSG00000032841
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000144549
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154525
AA Change: R37L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120192
Gene: ENSMUSG00000032841
AA Change: R37L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Pfam:HbrB
|
45 |
95 |
2.8e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163762
AA Change: R37L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127530
Gene: ENSMUSG00000032841
AA Change: R37L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Pfam:HbrB
|
45 |
177 |
2.8e-36 |
PFAM |
|
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171088
AA Change: R37L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130152
Gene: ENSMUSG00000032841
AA Change: R37L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Pfam:HbrB
|
45 |
177 |
2.8e-36 |
PFAM |
|
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,919,041 (GRCm39) |
|
probably benign |
Het |
| Actr3b |
T |
C |
5: 26,053,481 (GRCm39) |
I270T |
possibly damaging |
Het |
| Adgrf2 |
T |
C |
17: 43,021,384 (GRCm39) |
Y480C |
probably damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,229,174 (GRCm39) |
T514A |
probably damaging |
Het |
| BC031181 |
C |
T |
18: 75,141,736 (GRCm39) |
|
probably benign |
Het |
| Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
| Ccm2 |
G |
A |
11: 6,546,195 (GRCm39) |
R335H |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Crabp1 |
T |
C |
9: 54,672,232 (GRCm39) |
F16S |
possibly damaging |
Het |
| Crmp1 |
C |
T |
5: 37,441,424 (GRCm39) |
A502V |
probably damaging |
Het |
| Ehhadh |
A |
T |
16: 21,581,672 (GRCm39) |
V440D |
probably damaging |
Het |
| Galnt3 |
T |
A |
2: 65,925,562 (GRCm39) |
I392L |
probably damaging |
Het |
| Gm12689 |
T |
A |
4: 99,184,490 (GRCm39) |
N114K |
unknown |
Het |
| Hspa2 |
A |
G |
12: 76,451,947 (GRCm39) |
T214A |
probably damaging |
Het |
| Itga7 |
T |
C |
10: 128,769,952 (GRCm39) |
I32T |
probably benign |
Het |
| Itgal |
A |
G |
7: 126,913,540 (GRCm39) |
S682G |
probably damaging |
Het |
| Kctd1 |
C |
T |
18: 15,107,036 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,202,571 (GRCm39) |
D439V |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,734,366 (GRCm39) |
K3258E |
probably damaging |
Het |
| Mgat4c |
T |
C |
10: 102,225,114 (GRCm39) |
S443P |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,742,158 (GRCm39) |
G890E |
probably benign |
Het |
| Mylk2 |
T |
A |
2: 152,761,130 (GRCm39) |
L446* |
probably null |
Het |
| Niban1 |
A |
T |
1: 151,525,176 (GRCm39) |
I194F |
probably damaging |
Het |
| Or2t26 |
T |
G |
11: 49,039,719 (GRCm39) |
F212V |
probably damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,910,549 (GRCm39) |
F278L |
probably damaging |
Het |
| Pitpnm3 |
A |
G |
11: 71,983,378 (GRCm39) |
S84P |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,431,617 (GRCm39) |
|
probably benign |
Het |
| Ptprs |
T |
C |
17: 56,731,032 (GRCm39) |
T719A |
probably benign |
Het |
| Rasa3 |
T |
C |
8: 13,648,280 (GRCm39) |
H128R |
probably benign |
Het |
| Rhox13 |
A |
G |
X: 37,218,652 (GRCm39) |
K205E |
probably damaging |
Het |
| Rif1 |
C |
A |
2: 52,000,137 (GRCm39) |
S1197* |
probably null |
Het |
| Sgta |
A |
G |
10: 80,885,612 (GRCm39) |
|
probably benign |
Het |
| Slc25a5 |
T |
A |
X: 36,061,506 (GRCm39) |
M239K |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,887,110 (GRCm39) |
H734Q |
probably benign |
Het |
| Stk32b |
T |
C |
5: 37,688,883 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
G |
4: 139,152,606 (GRCm39) |
F1999C |
probably damaging |
Het |
| Wfdc2 |
A |
C |
2: 164,406,009 (GRCm39) |
T86P |
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,578,834 (GRCm39) |
S760G |
probably damaging |
Het |
| Zfp668 |
A |
T |
7: 127,465,690 (GRCm39) |
L498Q |
possibly damaging |
Het |
|
| Other mutations in Prr5l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02183:Prr5l
|
APN |
2 |
101,602,465 (GRCm39) |
splice site |
probably benign |
|
|
PIT4618001:Prr5l
|
UTSW |
2 |
101,588,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0652:Prr5l
|
UTSW |
2 |
101,602,635 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0722:Prr5l
|
UTSW |
2 |
101,547,819 (GRCm39) |
splice site |
probably benign |
|
|
R0882:Prr5l
|
UTSW |
2 |
101,588,886 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1962:Prr5l
|
UTSW |
2 |
101,588,854 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3013:Prr5l
|
UTSW |
2 |
101,565,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4564:Prr5l
|
UTSW |
2 |
101,577,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Prr5l
|
UTSW |
2 |
101,559,793 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4902:Prr5l
|
UTSW |
2 |
101,628,027 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5338:Prr5l
|
UTSW |
2 |
101,547,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6279:Prr5l
|
UTSW |
2 |
101,547,765 (GRCm39) |
nonsense |
probably null |
|
|
R6792:Prr5l
|
UTSW |
2 |
101,547,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7214:Prr5l
|
UTSW |
2 |
101,559,777 (GRCm39) |
missense |
probably benign |
|
|
R7299:Prr5l
|
UTSW |
2 |
101,547,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7301:Prr5l
|
UTSW |
2 |
101,547,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Prr5l
|
UTSW |
2 |
101,565,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7702:Prr5l
|
UTSW |
2 |
101,547,442 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8086:Prr5l
|
UTSW |
2 |
101,571,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8116:Prr5l
|
UTSW |
2 |
101,627,919 (GRCm39) |
frame shift |
probably null |
|
|
R8297:Prr5l
|
UTSW |
2 |
101,571,630 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8470:Prr5l
|
UTSW |
2 |
101,547,430 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8753:Prr5l
|
UTSW |
2 |
101,571,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF028:Prr5l
|
UTSW |
2 |
101,627,918 (GRCm39) |
frame shift |
probably null |
|
|
RF033:Prr5l
|
UTSW |
2 |
101,627,918 (GRCm39) |
frame shift |
probably null |
|
|
RF039:Prr5l
|
UTSW |
2 |
101,627,918 (GRCm39) |
frame shift |
probably null |
|
|
X0018:Prr5l
|
UTSW |
2 |
101,547,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation