Incidental Mutation 'PIT4618001:Prr5l'
| ID |
555679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr5l
|
| Ensembl Gene |
ENSMUSG00000032841 |
| Gene Name |
proline rich 5 like |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
PIT4618001 (G1)
|
| Quality Score |
214.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
101714285-101883027 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101758530 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 92
(F92L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043845]
[ENSMUST00000125985]
[ENSMUST00000154525]
[ENSMUST00000163762]
[ENSMUST00000171088]
|
| AlphaFold |
A2AVJ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043845
AA Change: F92L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042167
Gene: ENSMUSG00000032841
AA Change: F92L
| 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: ENSMUST00000125985
AA Change: F92L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122996
Gene: ENSMUSG00000032841
AA Change: F92L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Pfam:HbrB
|
45 |
128 |
3e-20 |
PFAM |
|
| 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 damaging
Transcript: ENSMUST00000154525
AA Change: F92L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120192
Gene: ENSMUSG00000032841
AA Change: F92L
| 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: F92L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127530
Gene: ENSMUSG00000032841
AA Change: F92L
| 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: F92L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130152
Gene: ENSMUSG00000032841
AA Change: F92L
| 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 |
- 1x: 93.4%
- 3x: 91.0%
- 10x: 85.9%
- 20x: 75.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
T |
5: 107,545,709 (GRCm38) |
D64V |
probably damaging |
Het |
| Ankdd1a |
A |
C |
9: 65,507,650 (GRCm38) |
I268S |
possibly damaging |
Het |
| Atad3a |
C |
T |
4: 155,750,138 (GRCm38) |
R402Q |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,850,787 (GRCm38) |
V157A |
probably benign |
Het |
| Cd200l1 |
A |
G |
16: 45,443,934 (GRCm38) |
F87S |
probably benign |
Het |
| Cd55 |
C |
T |
1: 130,456,869 (GRCm38) |
V206I |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,373,677 (GRCm38) |
D42G |
possibly damaging |
Het |
| Cemip |
G |
T |
7: 83,943,939 (GRCm38) |
F1185L |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,975,514 (GRCm38) |
D527G |
probably damaging |
Het |
| Cyp2a12 |
C |
A |
7: 27,034,773 (GRCm38) |
S377Y |
probably benign |
Het |
| Dapk2 |
A |
G |
9: 66,268,686 (GRCm38) |
D289G |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,983,446 (GRCm38) |
A277V |
probably benign |
Het |
| Ephx2 |
A |
T |
14: 66,102,222 (GRCm38) |
F250L |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,203,781 (GRCm38) |
S1039C |
unknown |
Het |
| Gramd1a |
A |
G |
7: 31,132,596 (GRCm38) |
V674A |
probably benign |
Het |
| Gtf2a1 |
A |
C |
12: 91,567,769 (GRCm38) |
V237G |
probably benign |
Het |
| I830077J02Rik |
G |
A |
3: 105,926,570 (GRCm38) |
T90M |
probably damaging |
Het |
| Jagn1 |
T |
A |
6: 113,447,437 (GRCm38) |
L90H |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,746,527 (GRCm38) |
A4158S |
probably benign |
Het |
| Myh11 |
G |
A |
16: 14,201,066 (GRCm38) |
A1839V |
|
Het |
| Olr1 |
G |
A |
6: 129,499,906 (GRCm38) |
A132V |
probably damaging |
Het |
| Paqr3 |
A |
T |
5: 97,103,471 (GRCm38) |
H131Q |
possibly damaging |
Het |
| Pde4b |
A |
T |
4: 102,602,812 (GRCm38) |
T397S |
probably benign |
Het |
| Pon1 |
A |
G |
6: 5,168,349 (GRCm38) |
C353R |
probably damaging |
Het |
| Ppie |
G |
A |
4: 123,138,868 (GRCm38) |
T43I |
probably null |
Het |
| Rai14 |
T |
C |
15: 10,575,156 (GRCm38) |
Y601C |
probably damaging |
Het |
| Rasal1 |
A |
G |
5: 120,670,376 (GRCm38) |
D491G |
probably damaging |
Het |
| Rbm12b1 |
T |
A |
4: 12,145,441 (GRCm38) |
V471E |
probably damaging |
Het |
| Rpusd2 |
T |
C |
2: 119,038,452 (GRCm38) |
L452P |
possibly damaging |
Het |
| Scgb2b24 |
A |
T |
7: 33,738,611 (GRCm38) |
C24S |
probably damaging |
Het |
| Slc17a5 |
C |
T |
9: 78,538,248 (GRCm38) |
V468M |
possibly damaging |
Het |
| Tcp10c |
A |
G |
17: 13,356,510 (GRCm38) |
K117R |
possibly damaging |
Het |
| Ubash3b |
A |
G |
9: 41,016,627 (GRCm38) |
S584P |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,709,240 (GRCm38) |
R1778C |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,834,598 (GRCm38) |
I220M |
probably benign |
Het |
| Zfp474 |
C |
A |
18: 52,638,404 (GRCm38) |
T43K |
probably damaging |
Het |
| Zscan4-ps3 |
G |
A |
7: 11,613,334 (GRCm38) |
M432I |
probably benign |
Het |
|
| Other mutations in Prr5l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02183:Prr5l
|
APN |
2 |
101,772,120 (GRCm38) |
splice site |
probably benign |
|
|
IGL02946:Prr5l
|
APN |
2 |
101,772,184 (GRCm38) |
splice site |
probably null |
|
|
R0652:Prr5l
|
UTSW |
2 |
101,772,290 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0722:Prr5l
|
UTSW |
2 |
101,717,474 (GRCm38) |
splice site |
probably benign |
|
|
R0882:Prr5l
|
UTSW |
2 |
101,758,541 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1962:Prr5l
|
UTSW |
2 |
101,758,509 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3013:Prr5l
|
UTSW |
2 |
101,734,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4564:Prr5l
|
UTSW |
2 |
101,746,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4604:Prr5l
|
UTSW |
2 |
101,729,448 (GRCm38) |
missense |
probably benign |
0.44 |
|
R4902:Prr5l
|
UTSW |
2 |
101,797,682 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R5338:Prr5l
|
UTSW |
2 |
101,717,107 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6279:Prr5l
|
UTSW |
2 |
101,717,420 (GRCm38) |
nonsense |
probably null |
|
|
R6792:Prr5l
|
UTSW |
2 |
101,717,424 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7214:Prr5l
|
UTSW |
2 |
101,729,432 (GRCm38) |
missense |
probably benign |
|
|
R7299:Prr5l
|
UTSW |
2 |
101,717,286 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7301:Prr5l
|
UTSW |
2 |
101,717,286 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7672:Prr5l
|
UTSW |
2 |
101,734,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7702:Prr5l
|
UTSW |
2 |
101,717,097 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8086:Prr5l
|
UTSW |
2 |
101,741,364 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8116:Prr5l
|
UTSW |
2 |
101,797,574 (GRCm38) |
frame shift |
probably null |
|
|
R8297:Prr5l
|
UTSW |
2 |
101,741,285 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8470:Prr5l
|
UTSW |
2 |
101,717,085 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8753:Prr5l
|
UTSW |
2 |
101,741,378 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF028:Prr5l
|
UTSW |
2 |
101,797,573 (GRCm38) |
frame shift |
probably null |
|
|
RF033:Prr5l
|
UTSW |
2 |
101,797,573 (GRCm38) |
frame shift |
probably null |
|
|
RF039:Prr5l
|
UTSW |
2 |
101,797,573 (GRCm38) |
frame shift |
probably null |
|
|
X0018:Prr5l
|
UTSW |
2 |
101,717,259 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGATCTCCACTCACATCAGG -3'
(R):5'- AGAGCATTCCTTCCTCCAGC -3'
Sequencing Primer
(F):5'- CTCACATCAGGGACCAAGTGG -3'
(R):5'- AGCCTCGGTCCCTACCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation