Incidental Mutation 'R9052:Prr14l'
ID |
688439 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr14l
|
Ensembl Gene |
ENSMUSG00000054280 |
Gene Name |
proline rich 14-like |
Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
MMRRC Submission |
068878-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R9052 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
32947164-33011600 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 32987478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 672
(C672*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120129]
[ENSMUST00000144673]
[ENSMUST00000155392]
|
AlphaFold |
E9Q7C4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000120129
AA Change: C672*
|
SMART Domains |
Protein: ENSMUSP00000113259 Gene: ENSMUSG00000054280 AA Change: C672*
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: 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 |
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
99% (69/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059G10Rik |
T |
C |
9: 122,778,031 (GRCm39) |
E71G |
probably damaging |
Het |
2610021A01Rik |
G |
T |
7: 41,275,449 (GRCm39) |
G384V |
probably benign |
Het |
4931406B18Rik |
T |
A |
7: 43,147,631 (GRCm39) |
R247* |
probably null |
Het |
Abca4 |
G |
T |
3: 121,940,908 (GRCm39) |
V1576F |
possibly damaging |
Het |
Acsl6 |
A |
T |
11: 54,232,615 (GRCm39) |
T489S |
possibly damaging |
Het |
Adcy8 |
C |
T |
15: 64,792,764 (GRCm39) |
R64H |
probably benign |
Het |
Atad2b |
C |
A |
12: 5,015,982 (GRCm39) |
F569L |
probably damaging |
Het |
Atp2c1 |
A |
T |
9: 105,330,032 (GRCm39) |
I266N |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,936,301 (GRCm39) |
|
probably null |
Het |
Coch |
T |
C |
12: 51,640,408 (GRCm39) |
M1T |
probably null |
Het |
Col5a3 |
C |
A |
9: 20,710,733 (GRCm39) |
R537L |
unknown |
Het |
Crb1 |
C |
T |
1: 139,171,161 (GRCm39) |
R743Q |
possibly damaging |
Het |
Crybg2 |
T |
C |
4: 133,803,035 (GRCm39) |
F889L |
probably damaging |
Het |
Cyp4f15 |
C |
T |
17: 32,911,589 (GRCm39) |
T157I |
probably damaging |
Het |
D630045J12Rik |
G |
T |
6: 38,154,544 (GRCm39) |
Q1212K |
probably damaging |
Het |
Dennd1a |
A |
G |
2: 37,911,463 (GRCm39) |
Y175H |
probably damaging |
Het |
Dhcr7 |
C |
A |
7: 143,395,060 (GRCm39) |
T192K |
possibly damaging |
Het |
Dlg1 |
T |
A |
16: 31,656,942 (GRCm39) |
I612N |
probably damaging |
Het |
Dmpk |
G |
A |
7: 18,821,614 (GRCm39) |
V291M |
probably damaging |
Het |
Dnajc6 |
T |
C |
4: 101,496,617 (GRCm39) |
V928A |
probably damaging |
Het |
Dst |
A |
G |
1: 34,206,045 (GRCm39) |
Y859C |
probably damaging |
Het |
Dst |
C |
T |
1: 34,236,411 (GRCm39) |
Q1592* |
probably null |
Het |
Gm10226 |
T |
A |
17: 21,910,959 (GRCm39) |
C65S |
possibly damaging |
Het |
Helz2 |
T |
C |
2: 180,881,968 (GRCm39) |
K275R |
possibly damaging |
Het |
Hltf |
A |
G |
3: 20,152,246 (GRCm39) |
T581A |
probably damaging |
Het |
Ighv1-24 |
C |
T |
12: 114,736,555 (GRCm39) |
C115Y |
probably damaging |
Het |
Il18 |
C |
T |
9: 50,489,090 (GRCm39) |
L40F |
possibly damaging |
Het |
Isg20 |
A |
G |
7: 78,566,390 (GRCm39) |
D113G |
probably damaging |
Het |
Itgb3 |
A |
T |
11: 104,524,413 (GRCm39) |
D183V |
probably damaging |
Het |
Kif12 |
C |
T |
4: 63,090,068 (GRCm39) |
V28M |
probably damaging |
Het |
Manbal |
T |
C |
2: 157,221,107 (GRCm39) |
L28P |
probably damaging |
Het |
Masp1 |
T |
A |
16: 23,339,350 (GRCm39) |
|
probably benign |
Het |
Mfap5 |
A |
G |
6: 122,501,463 (GRCm39) |
T72A |
probably benign |
Het |
Mier2 |
G |
A |
10: 79,384,274 (GRCm39) |
R166W |
probably damaging |
Het |
Mrps5 |
G |
A |
2: 127,433,876 (GRCm39) |
|
probably benign |
Het |
Ms4a1 |
T |
A |
19: 11,233,954 (GRCm39) |
T101S |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,062,747 (GRCm39) |
M344V |
probably benign |
Het |
Naaladl1 |
T |
G |
19: 6,158,716 (GRCm39) |
F283V |
probably benign |
Het |
Nacc1 |
A |
C |
8: 85,403,377 (GRCm39) |
V166G |
probably damaging |
Het |
Nwd2 |
A |
T |
5: 63,961,773 (GRCm39) |
R452S |
probably damaging |
Het |
Or1n1b |
T |
C |
2: 36,780,105 (GRCm39) |
T252A |
probably damaging |
Het |
Or1x6 |
G |
A |
11: 50,938,938 (GRCm39) |
M1I |
probably null |
Het |
Or5k16 |
T |
C |
16: 58,736,561 (GRCm39) |
T148A |
probably benign |
Het |
Or6c214 |
C |
G |
10: 129,591,094 (GRCm39) |
C75S |
possibly damaging |
Het |
Pik3cg |
T |
C |
12: 32,245,708 (GRCm39) |
I847V |
possibly damaging |
Het |
Plcz1 |
G |
A |
6: 139,968,905 (GRCm39) |
H178Y |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,508,160 (GRCm39) |
M937K |
probably benign |
Het |
Rasl11a |
C |
A |
5: 146,782,107 (GRCm39) |
D27E |
probably benign |
Het |
Rbm27 |
T |
C |
18: 42,465,893 (GRCm39) |
S860P |
probably damaging |
Het |
Rfxap |
G |
A |
3: 54,715,155 (GRCm39) |
|
probably benign |
Het |
Rhbdf2 |
A |
C |
11: 116,494,758 (GRCm39) |
L306R |
probably benign |
Het |
Rigi |
C |
A |
4: 40,208,459 (GRCm39) |
V826L |
probably benign |
Het |
Rnf123 |
A |
T |
9: 107,936,930 (GRCm39) |
V875E |
probably damaging |
Het |
Sh3bp2 |
A |
G |
5: 34,709,164 (GRCm39) |
|
probably benign |
Het |
Slc7a9 |
A |
G |
7: 35,153,017 (GRCm39) |
K145R |
probably benign |
Het |
Slco5a1 |
A |
T |
1: 13,060,397 (GRCm39) |
V108E |
possibly damaging |
Het |
Stat2 |
A |
G |
10: 128,117,538 (GRCm39) |
E352G |
probably damaging |
Het |
Synj1 |
A |
T |
16: 90,735,728 (GRCm39) |
S1408R |
probably benign |
Het |
Tent5c |
A |
T |
3: 100,380,618 (GRCm39) |
I46K |
probably benign |
Het |
Tgs1 |
T |
A |
4: 3,585,166 (GRCm39) |
M102K |
probably benign |
Het |
Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
Ttc23 |
C |
A |
7: 67,342,687 (GRCm39) |
C268* |
probably null |
Het |
Uhrf2 |
T |
C |
19: 30,070,236 (GRCm39) |
F795S |
probably damaging |
Het |
Urgcp |
A |
G |
11: 5,673,153 (GRCm39) |
W41R |
probably damaging |
Het |
Uso1 |
G |
T |
5: 92,328,422 (GRCm39) |
V340F |
probably damaging |
Het |
Vta1 |
A |
C |
10: 14,551,692 (GRCm39) |
I169R |
probably benign |
Het |
Zfp317 |
A |
G |
9: 19,556,568 (GRCm39) |
I59V |
probably benign |
Het |
Zfp799 |
G |
A |
17: 33,039,786 (GRCm39) |
T160I |
probably benign |
Het |
Zfp955a |
G |
T |
17: 33,461,279 (GRCm39) |
H284Q |
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 |
IGL02508:Prr14l
|
APN |
5 |
32,988,286 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
R9136:Prr14l
|
UTSW |
5 |
32,986,080 (GRCm39) |
missense |
|
|
R9682:Prr14l
|
UTSW |
5 |
32,988,023 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCAGTTTCCATGTGAGTGGC -3'
(R):5'- GACTGCTGTACATTCCACGTTC -3'
Sequencing Primer
(F):5'- TGTTCAGAGAAGCAGTATGTGTCAC -3'
(R):5'- GTACATTCCACGTTCTTCTCAAGTG -3'
|
Posted On |
2021-11-19 |