Incidental Mutation 'R8470:Prr5l'
| ID |
656980 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr5l
|
| Ensembl Gene |
ENSMUSG00000032841 |
| Gene Name |
proline rich 5 like |
| Synonyms |
2600010E01Rik, 4833411O04Rik |
| MMRRC Submission |
067914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R8470 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
101544630-101713372 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101547430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 365
(N365S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043845]
[ENSMUST00000163762]
[ENSMUST00000171088]
|
| AlphaFold |
A2AVJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043845
AA Change: N365S
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000042167
Gene: ENSMUSG00000032841
AA Change: N365S
| 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 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 benign
Transcript: ENSMUST00000163762
AA Change: N365S
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000127530
Gene: ENSMUSG00000032841
AA Change: N365S
| 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 benign
Transcript: ENSMUST00000171088
AA Change: N365S
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000130152
Gene: ENSMUSG00000032841
AA Change: N365S
| 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 |
0.0705 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
A |
T |
7: 132,476,685 (GRCm39) |
I142F |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,984,496 (GRCm39) |
Y56H |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,618,357 (GRCm39) |
D2801G |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,489,269 (GRCm39) |
I301T |
probably benign |
Het |
| Atxn7l2 |
G |
A |
3: 108,114,285 (GRCm39) |
T159M |
probably benign |
Het |
| B130006D01Rik |
C |
T |
11: 95,617,175 (GRCm39) |
|
probably benign |
Het |
| Btf3l4b |
C |
A |
13: 96,217,432 (GRCm39) |
D136Y |
possibly damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,202,392 (GRCm39) |
K301R |
probably damaging |
Het |
| Cecr2 |
A |
T |
6: 120,733,894 (GRCm39) |
Q627L |
probably benign |
Het |
| Cerkl |
C |
A |
2: 79,172,751 (GRCm39) |
M307I |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,293,207 (GRCm39) |
I1254M |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,664,510 (GRCm39) |
T37A |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,171,931 (GRCm39) |
V1857A |
probably damaging |
Het |
| Gm3486 |
T |
C |
14: 41,206,538 (GRCm39) |
|
probably null |
Het |
| Il1r2 |
T |
C |
1: 40,162,416 (GRCm39) |
V353A |
probably damaging |
Het |
| Irgq |
A |
T |
7: 24,233,715 (GRCm39) |
R519W |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,652,950 (GRCm39) |
S16C |
probably damaging |
Het |
| Myo9a |
T |
G |
9: 59,739,573 (GRCm39) |
C762G |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,606,374 (GRCm39) |
V454E |
probably damaging |
Het |
| Or10h5 |
A |
G |
17: 33,434,868 (GRCm39) |
V150A |
probably benign |
Het |
| Or4p20 |
A |
T |
2: 88,254,228 (GRCm39) |
I47N |
probably damaging |
Het |
| Or7g35 |
T |
G |
9: 19,496,265 (GRCm39) |
L144R |
probably damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,145,937 (GRCm39) |
K676R |
probably benign |
Het |
| Pknox2 |
C |
T |
9: 36,834,986 (GRCm39) |
R161H |
probably damaging |
Het |
| Prrg4 |
A |
G |
2: 104,679,501 (GRCm39) |
L8P |
probably damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,453,595 (GRCm39) |
|
probably null |
Het |
| Rtp4 |
A |
T |
16: 23,428,827 (GRCm39) |
H30L |
probably benign |
Het |
| Rxfp2 |
T |
G |
5: 149,993,834 (GRCm39) |
I632S |
possibly damaging |
Het |
| Spata31h1 |
A |
C |
10: 82,126,314 (GRCm39) |
F2232C |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,070,758 (GRCm39) |
E1533D |
possibly damaging |
Het |
| Ssbp1 |
A |
G |
6: 40,454,941 (GRCm39) |
I133M |
probably damaging |
Het |
| Stap1 |
A |
G |
5: 86,242,602 (GRCm39) |
I188V |
possibly damaging |
Het |
| Topaz1 |
T |
C |
9: 122,603,173 (GRCm39) |
M1040T |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,887,501 (GRCm39) |
F877L |
possibly damaging |
Het |
| Ush1c |
A |
G |
7: 45,858,674 (GRCm39) |
L538P |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,904,162 (GRCm39) |
A1364T |
probably benign |
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 |
|
|
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 |
|
|
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'- GCCAGTCATAGACACCAGAG -3'
(R):5'- ACTCAGACATCCAGCTGCTG -3'
Sequencing Primer
(F):5'- GGAGGCCGACAGATGTTTC -3'
(R):5'- GATGGCCACCATGATGCACTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation