Incidental Mutation 'R3013:Prr5l'
| ID |
257554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr5l
|
| Ensembl Gene |
ENSMUSG00000032841 |
| Gene Name |
proline rich 5 like |
| Synonyms |
2600010E01Rik, 4833411O04Rik |
| MMRRC Submission |
040534-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R3013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
101544630-101713372 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101565050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 162
(F162S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043845]
[ENSMUST00000163762]
[ENSMUST00000171088]
|
| AlphaFold |
A2AVJ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043845
AA Change: F162S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042167
Gene: ENSMUSG00000032841
AA Change: F162S
| 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 |
unknown
Transcript: ENSMUST00000141814
AA Change: F90S
|
| SMART Domains |
Protein: ENSMUSP00000118537
Gene: ENSMUSG00000032841
AA Change: F90S
| 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 damaging
Transcript: ENSMUST00000163762
AA Change: F162S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127530
Gene: ENSMUSG00000032841
AA Change: F162S
| 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: F162S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130152
Gene: ENSMUSG00000032841
AA Change: F162S
| 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 |
|
| Meta Mutation Damage Score |
0.9061 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
C |
T |
8: 124,211,416 (GRCm39) |
R126W |
probably benign |
Het |
| Alg10b |
T |
A |
15: 90,111,759 (GRCm39) |
I201N |
possibly damaging |
Het |
| Arid2 |
T |
C |
15: 96,259,817 (GRCm39) |
S326P |
probably damaging |
Het |
| Ash2l |
T |
C |
8: 26,329,792 (GRCm39) |
D122G |
probably damaging |
Het |
| Bpifb5 |
T |
C |
2: 154,070,775 (GRCm39) |
S189P |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,752,025 (GRCm39) |
V852A |
probably benign |
Het |
| Ces1e |
G |
A |
8: 93,929,915 (GRCm39) |
S455L |
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,139 (GRCm39) |
K292R |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,227,847 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,847,067 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,324,358 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
T |
A |
5: 135,463,893 (GRCm39) |
E37V |
possibly damaging |
Het |
| Hspbp1 |
G |
T |
7: 4,666,483 (GRCm39) |
T299K |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,074,497 (GRCm39) |
D470G |
probably benign |
Het |
| Mkx |
A |
T |
18: 6,936,929 (GRCm39) |
I334N |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,951,744 (GRCm39) |
L4003Q |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,614,509 (GRCm39) |
C314F |
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,089,025 (GRCm39) |
D114E |
probably damaging |
Het |
| Rbfox2 |
T |
C |
15: 77,017,120 (GRCm39) |
T17A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,470,626 (GRCm39) |
F4610L |
probably damaging |
Het |
| Scp2 |
T |
A |
4: 107,928,554 (GRCm39) |
R379W |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,285,966 (GRCm39) |
T374A |
probably damaging |
Het |
| Smad4 |
T |
C |
18: 73,781,975 (GRCm39) |
Y429C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,565,025 (GRCm39) |
T28401A |
probably damaging |
Het |
| Wdr49 |
A |
G |
3: 75,358,154 (GRCm39) |
I260T |
probably damaging |
Het |
| Xirp1 |
T |
C |
9: 119,848,851 (GRCm39) |
T11A |
probably benign |
Het |
| Zfp235 |
A |
G |
7: 23,840,157 (GRCm39) |
D262G |
probably 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 |
|
|
IGL02946:Prr5l
|
APN |
2 |
101,602,529 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAGCAGGATCCTGGATC -3'
(R):5'- TCGATTAATTAGGCAGGTTGAGC -3'
Sequencing Primer
(F):5'- GATCCTGGATCCTTCGGCTG -3'
(R):5'- ACACCTTGTCTTAATGCCAGAGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation