Incidental Mutation 'IGL02508:Prr14l'
ID |
296423 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prr14l
|
Ensembl Gene |
ENSMUSG00000054280 |
Gene Name |
proline rich 14-like |
Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.243)
|
Stock # |
IGL02508
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
32947164-33011600 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 32988286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 403
(A403V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120129]
[ENSMUST00000130134]
[ENSMUST00000144673]
[ENSMUST00000155392]
|
AlphaFold |
E9Q7C4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000120129
AA Change: A403V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000113259 Gene: ENSMUSG00000054280 AA Change: A403V
Domain | Start | End | E-Value | Type |
low complexity region
|
720 |
731 |
N/A |
INTRINSIC |
low complexity region
|
1433 |
1446 |
N/A |
INTRINSIC |
low complexity region
|
1471 |
1480 |
N/A |
INTRINSIC |
Pfam:Tantalus
|
1838 |
1895 |
2.9e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130134
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144673
|
SMART Domains |
Protein: ENSMUSP00000124923 Gene: ENSMUSG00000093574
Domain | Start | End | E-Value | Type |
Pfam:Tantalus
|
158 |
193 |
1.2e-15 |
PFAM |
Pfam:PS_Dcarbxylase
|
332 |
575 |
2.1e-71 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155392
|
SMART Domains |
Protein: ENSMUSP00000119569 Gene: ENSMUSG00000054280
Domain | Start | End | E-Value | Type |
low complexity region
|
276 |
289 |
N/A |
INTRINSIC |
low complexity region
|
314 |
323 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700061I17Rik |
T |
A |
3: 116,870,764 (GRCm39) |
|
noncoding transcript |
Het |
Adgrv1 |
A |
T |
13: 81,583,675 (GRCm39) |
|
probably benign |
Het |
AI429214 |
T |
G |
8: 37,461,240 (GRCm39) |
D129E |
probably benign |
Het |
Alx1 |
G |
A |
10: 102,858,054 (GRCm39) |
T215M |
probably damaging |
Het |
Arhgap39 |
A |
G |
15: 76,609,184 (GRCm39) |
*1079Q |
probably null |
Het |
Brca2 |
T |
C |
5: 150,466,773 (GRCm39) |
V2179A |
possibly damaging |
Het |
Cdcp3 |
A |
G |
7: 130,824,559 (GRCm39) |
E91G |
probably damaging |
Het |
Celsr1 |
G |
A |
15: 85,914,818 (GRCm39) |
Q1052* |
probably null |
Het |
Chd5 |
A |
G |
4: 152,447,481 (GRCm39) |
E510G |
probably damaging |
Het |
Cntnap2 |
A |
G |
6: 46,211,254 (GRCm39) |
D556G |
probably damaging |
Het |
Cux2 |
G |
A |
5: 121,998,885 (GRCm39) |
P1352S |
possibly damaging |
Het |
Cyp4a31 |
A |
T |
4: 115,428,261 (GRCm39) |
Y319F |
probably damaging |
Het |
Dcaf12 |
C |
T |
4: 41,296,310 (GRCm39) |
|
probably null |
Het |
Dcc |
C |
A |
18: 71,503,773 (GRCm39) |
A942S |
probably benign |
Het |
Dyrk1a |
A |
T |
16: 94,486,042 (GRCm39) |
D463V |
probably damaging |
Het |
Eln |
T |
A |
5: 134,733,422 (GRCm39) |
|
probably benign |
Het |
Fbxl13 |
A |
G |
5: 21,761,803 (GRCm39) |
|
probably null |
Het |
Fndc3b |
T |
C |
3: 27,512,900 (GRCm39) |
Y742C |
probably damaging |
Het |
Furin |
G |
A |
7: 80,042,269 (GRCm39) |
T442I |
probably benign |
Het |
Gli1 |
T |
C |
10: 127,172,961 (GRCm39) |
Q155R |
probably benign |
Het |
Glra3 |
A |
G |
8: 56,538,179 (GRCm39) |
E218G |
probably benign |
Het |
Grb10 |
C |
T |
11: 11,896,767 (GRCm39) |
V236M |
probably damaging |
Het |
Grhl2 |
T |
C |
15: 37,310,009 (GRCm39) |
|
probably benign |
Het |
Hgfac |
A |
T |
5: 35,204,564 (GRCm39) |
M579L |
probably damaging |
Het |
Ifi202b |
A |
T |
1: 173,802,338 (GRCm39) |
D165E |
probably benign |
Het |
Klhl26 |
A |
T |
8: 70,905,381 (GRCm39) |
D95E |
probably damaging |
Het |
Klk12 |
T |
C |
7: 43,419,113 (GRCm39) |
V26A |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,333,774 (GRCm39) |
G1489D |
probably benign |
Het |
Lrrtm1 |
A |
T |
6: 77,221,574 (GRCm39) |
S344C |
probably damaging |
Het |
Lzts1 |
G |
A |
8: 69,593,500 (GRCm39) |
R36* |
probably null |
Het |
Mapkap1 |
T |
C |
2: 34,408,681 (GRCm39) |
|
probably benign |
Het |
Meis3 |
T |
A |
7: 15,912,722 (GRCm39) |
|
probably null |
Het |
Mtmr14 |
T |
A |
6: 113,217,267 (GRCm39) |
C60S |
probably damaging |
Het |
Nfkb1 |
T |
A |
3: 135,296,579 (GRCm39) |
Y789F |
probably damaging |
Het |
Nup54 |
G |
A |
5: 92,565,398 (GRCm39) |
Q440* |
probably null |
Het |
Ogdhl |
T |
G |
14: 32,067,131 (GRCm39) |
M861R |
probably damaging |
Het |
Or13c7b |
T |
C |
4: 43,821,289 (GRCm39) |
E24G |
possibly damaging |
Het |
Or4d10 |
G |
T |
19: 12,051,251 (GRCm39) |
H248Q |
possibly damaging |
Het |
Or4k42 |
C |
T |
2: 111,320,180 (GRCm39) |
A108T |
probably damaging |
Het |
Or52w1 |
A |
T |
7: 105,017,743 (GRCm39) |
H61L |
possibly damaging |
Het |
Or6c69b |
A |
G |
10: 129,626,660 (GRCm39) |
V266A |
probably benign |
Het |
Pde6c |
A |
G |
19: 38,145,948 (GRCm39) |
K412R |
probably benign |
Het |
Pex5l |
T |
C |
3: 33,047,051 (GRCm39) |
|
probably benign |
Het |
Pigr |
A |
T |
1: 130,778,595 (GRCm39) |
I760L |
probably benign |
Het |
Pramel28 |
T |
C |
4: 143,691,590 (GRCm39) |
N378D |
probably benign |
Het |
Prrt3 |
T |
C |
6: 113,471,268 (GRCm39) |
D968G |
probably damaging |
Het |
Psmc5 |
T |
C |
11: 106,153,869 (GRCm39) |
I401T |
possibly damaging |
Het |
Ralyl |
T |
A |
3: 14,172,332 (GRCm39) |
|
probably benign |
Het |
Samd9l |
T |
C |
6: 3,374,798 (GRCm39) |
E821G |
probably damaging |
Het |
Serpinb3a |
T |
A |
1: 106,973,802 (GRCm39) |
I370F |
probably damaging |
Het |
Setd1a |
A |
G |
7: 127,396,870 (GRCm39) |
|
probably benign |
Het |
Slco2a1 |
T |
A |
9: 102,951,615 (GRCm39) |
F381L |
probably benign |
Het |
Strada |
A |
G |
11: 106,059,182 (GRCm39) |
Y199H |
probably benign |
Het |
Stxbp2 |
T |
C |
8: 3,682,531 (GRCm39) |
I40T |
probably damaging |
Het |
Tbx3 |
T |
C |
5: 119,816,877 (GRCm39) |
V358A |
possibly damaging |
Het |
Tenm3 |
A |
G |
8: 48,752,674 (GRCm39) |
L896S |
probably benign |
Het |
Tmem132a |
A |
G |
19: 10,835,882 (GRCm39) |
S883P |
probably damaging |
Het |
Trio |
A |
G |
15: 27,818,190 (GRCm39) |
I496T |
possibly damaging |
Het |
Unc79 |
C |
T |
12: 103,078,535 (GRCm39) |
R1548W |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,078,277 (GRCm39) |
|
probably benign |
Het |
Vmn2r9 |
T |
C |
5: 108,996,067 (GRCm39) |
M194V |
possibly damaging |
Het |
|
Other mutations in Prr14l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Prr14l
|
APN |
5 |
32,988,020 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00331:Prr14l
|
APN |
5 |
32,988,410 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01571:Prr14l
|
APN |
5 |
32,986,150 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01795:Prr14l
|
APN |
5 |
32,989,189 (GRCm39) |
unclassified |
probably benign |
|
IGL01929:Prr14l
|
APN |
5 |
32,985,587 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01959:Prr14l
|
APN |
5 |
32,987,549 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02139:Prr14l
|
APN |
5 |
32,984,876 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02321:Prr14l
|
APN |
5 |
32,985,151 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02551:Prr14l
|
APN |
5 |
32,988,828 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02585:Prr14l
|
APN |
5 |
32,986,828 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL02614:Prr14l
|
APN |
5 |
32,987,887 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02808:Prr14l
|
APN |
5 |
32,985,526 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02836:Prr14l
|
APN |
5 |
32,988,440 (GRCm39) |
missense |
probably benign |
0.42 |
IGL02952:Prr14l
|
APN |
5 |
32,993,014 (GRCm39) |
missense |
unknown |
|
IGL03034:Prr14l
|
APN |
5 |
32,984,782 (GRCm39) |
missense |
possibly damaging |
0.48 |
Polymer
|
UTSW |
5 |
32,984,489 (GRCm39) |
missense |
probably benign |
0.34 |
Postwar
|
UTSW |
5 |
32,988,028 (GRCm39) |
missense |
probably benign |
0.17 |
H8562:Prr14l
|
UTSW |
5 |
32,951,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R0086:Prr14l
|
UTSW |
5 |
32,988,903 (GRCm39) |
unclassified |
probably benign |
|
R0149:Prr14l
|
UTSW |
5 |
32,950,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R0333:Prr14l
|
UTSW |
5 |
32,985,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R0361:Prr14l
|
UTSW |
5 |
32,950,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R0416:Prr14l
|
UTSW |
5 |
32,986,061 (GRCm39) |
missense |
probably benign |
0.25 |
R0480:Prr14l
|
UTSW |
5 |
32,987,224 (GRCm39) |
missense |
probably benign |
0.02 |
R0511:Prr14l
|
UTSW |
5 |
33,001,560 (GRCm39) |
intron |
probably benign |
|
R0639:Prr14l
|
UTSW |
5 |
32,986,259 (GRCm39) |
missense |
probably benign |
0.02 |
R0673:Prr14l
|
UTSW |
5 |
32,986,259 (GRCm39) |
missense |
probably benign |
0.02 |
R0743:Prr14l
|
UTSW |
5 |
32,988,538 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0792:Prr14l
|
UTSW |
5 |
32,985,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R1006:Prr14l
|
UTSW |
5 |
32,986,826 (GRCm39) |
missense |
probably benign |
0.00 |
R1342:Prr14l
|
UTSW |
5 |
32,987,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R1433:Prr14l
|
UTSW |
5 |
32,986,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R1527:Prr14l
|
UTSW |
5 |
32,985,293 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1704:Prr14l
|
UTSW |
5 |
32,987,626 (GRCm39) |
missense |
probably benign |
0.01 |
R1967:Prr14l
|
UTSW |
5 |
33,001,813 (GRCm39) |
intron |
probably benign |
|
R2129:Prr14l
|
UTSW |
5 |
32,989,172 (GRCm39) |
unclassified |
probably benign |
|
R2150:Prr14l
|
UTSW |
5 |
32,988,046 (GRCm39) |
missense |
probably benign |
0.14 |
R2318:Prr14l
|
UTSW |
5 |
32,987,422 (GRCm39) |
missense |
probably benign |
0.04 |
R2915:Prr14l
|
UTSW |
5 |
32,987,112 (GRCm39) |
missense |
probably benign |
0.04 |
R3551:Prr14l
|
UTSW |
5 |
32,985,963 (GRCm39) |
splice site |
probably null |
|
R3820:Prr14l
|
UTSW |
5 |
32,986,328 (GRCm39) |
missense |
probably damaging |
0.99 |
R3852:Prr14l
|
UTSW |
5 |
32,987,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R4126:Prr14l
|
UTSW |
5 |
32,985,347 (GRCm39) |
missense |
probably damaging |
0.97 |
R4345:Prr14l
|
UTSW |
5 |
32,985,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R4388:Prr14l
|
UTSW |
5 |
32,986,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R4575:Prr14l
|
UTSW |
5 |
32,950,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R4596:Prr14l
|
UTSW |
5 |
32,986,652 (GRCm39) |
missense |
probably benign |
0.01 |
R4690:Prr14l
|
UTSW |
5 |
33,001,500 (GRCm39) |
intron |
probably benign |
|
R4824:Prr14l
|
UTSW |
5 |
33,001,743 (GRCm39) |
intron |
probably benign |
|
R4868:Prr14l
|
UTSW |
5 |
32,987,281 (GRCm39) |
missense |
probably benign |
0.04 |
R4869:Prr14l
|
UTSW |
5 |
32,986,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R5201:Prr14l
|
UTSW |
5 |
32,987,591 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5328:Prr14l
|
UTSW |
5 |
32,987,365 (GRCm39) |
missense |
probably benign |
0.00 |
R5410:Prr14l
|
UTSW |
5 |
32,985,121 (GRCm39) |
missense |
probably damaging |
0.98 |
R5476:Prr14l
|
UTSW |
5 |
33,001,482 (GRCm39) |
intron |
probably benign |
|
R5623:Prr14l
|
UTSW |
5 |
33,001,852 (GRCm39) |
intron |
probably benign |
|
R5730:Prr14l
|
UTSW |
5 |
32,950,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R5988:Prr14l
|
UTSW |
5 |
32,988,195 (GRCm39) |
missense |
probably damaging |
0.98 |
R6261:Prr14l
|
UTSW |
5 |
32,986,748 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6283:Prr14l
|
UTSW |
5 |
32,987,608 (GRCm39) |
missense |
probably benign |
0.14 |
R6307:Prr14l
|
UTSW |
5 |
32,984,869 (GRCm39) |
missense |
probably damaging |
0.97 |
R6825:Prr14l
|
UTSW |
5 |
32,985,892 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6862:Prr14l
|
UTSW |
5 |
32,985,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R6880:Prr14l
|
UTSW |
5 |
32,988,211 (GRCm39) |
missense |
probably benign |
0.01 |
R6931:Prr14l
|
UTSW |
5 |
32,988,035 (GRCm39) |
missense |
probably damaging |
0.98 |
R7101:Prr14l
|
UTSW |
5 |
32,986,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R7164:Prr14l
|
UTSW |
5 |
32,986,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R7203:Prr14l
|
UTSW |
5 |
32,984,489 (GRCm39) |
missense |
probably benign |
0.34 |
R7211:Prr14l
|
UTSW |
5 |
32,987,431 (GRCm39) |
missense |
probably damaging |
0.98 |
R7305:Prr14l
|
UTSW |
5 |
32,988,445 (GRCm39) |
missense |
probably benign |
0.14 |
R7346:Prr14l
|
UTSW |
5 |
32,988,028 (GRCm39) |
missense |
probably benign |
0.17 |
R7395:Prr14l
|
UTSW |
5 |
32,985,982 (GRCm39) |
missense |
probably benign |
0.00 |
R7624:Prr14l
|
UTSW |
5 |
32,986,967 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7649:Prr14l
|
UTSW |
5 |
32,985,589 (GRCm39) |
missense |
probably benign |
0.18 |
R7753:Prr14l
|
UTSW |
5 |
32,984,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R7828:Prr14l
|
UTSW |
5 |
33,001,735 (GRCm39) |
intron |
probably benign |
|
R7898:Prr14l
|
UTSW |
5 |
32,987,310 (GRCm39) |
missense |
probably benign |
0.04 |
R8071:Prr14l
|
UTSW |
5 |
32,988,508 (GRCm39) |
missense |
probably benign |
0.02 |
R9052:Prr14l
|
UTSW |
5 |
32,987,478 (GRCm39) |
nonsense |
probably null |
|
R9136:Prr14l
|
UTSW |
5 |
32,986,080 (GRCm39) |
missense |
|
|
R9682:Prr14l
|
UTSW |
5 |
32,988,023 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2015-04-16 |