Incidental Mutation 'R7211:Prr14l'
ID |
561057 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr14l
|
Ensembl Gene |
ENSMUSG00000054280 |
Gene Name |
proline rich 14-like |
Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
MMRRC Submission |
045339-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.243)
|
Stock # |
R7211 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
32947164-33011600 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32987431 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 688
(Q688L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120129]
[ENSMUST00000144673]
[ENSMUST00000155392]
|
AlphaFold |
E9Q7C4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120129
AA Change: Q688L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113259 Gene: ENSMUSG00000054280 AA Change: Q688L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
99% (84/85) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
T |
A |
2: 154,887,699 (GRCm39) |
V53E |
probably damaging |
Het |
A1cf |
A |
G |
19: 31,904,541 (GRCm39) |
Y268C |
probably benign |
Het |
Adam34l |
T |
A |
8: 44,078,914 (GRCm39) |
S437C |
probably damaging |
Het |
Adamts13 |
C |
T |
2: 26,879,310 (GRCm39) |
T621I |
probably benign |
Het |
Akr1b7 |
A |
T |
6: 34,398,049 (GRCm39) |
N293Y |
probably benign |
Het |
Angpt2 |
T |
A |
8: 18,791,147 (GRCm39) |
T50S |
probably benign |
Het |
Anks1b |
C |
A |
10: 90,346,932 (GRCm39) |
A744D |
possibly damaging |
Het |
Aqr |
A |
G |
2: 113,965,204 (GRCm39) |
V587A |
probably benign |
Het |
Atm |
A |
G |
9: 53,399,860 (GRCm39) |
V1540A |
probably benign |
Het |
Brd10 |
A |
G |
19: 29,763,712 (GRCm39) |
F121S |
|
Het |
C4b |
A |
G |
17: 34,954,508 (GRCm39) |
V887A |
possibly damaging |
Het |
Cd200r1 |
A |
G |
16: 44,609,120 (GRCm39) |
T26A |
probably benign |
Het |
Ciao1 |
A |
G |
2: 127,088,928 (GRCm39) |
|
probably null |
Het |
Clba1 |
T |
A |
12: 112,774,632 (GRCm39) |
|
probably null |
Het |
Clca3a2 |
A |
G |
3: 144,519,775 (GRCm39) |
C200R |
probably benign |
Het |
Col6a5 |
T |
A |
9: 105,805,363 (GRCm39) |
Q1181L |
unknown |
Het |
Copb2 |
T |
A |
9: 98,456,198 (GRCm39) |
I244N |
probably damaging |
Het |
Cpb2 |
A |
G |
14: 75,512,430 (GRCm39) |
Y281C |
probably damaging |
Het |
Disp3 |
C |
A |
4: 148,325,979 (GRCm39) |
V1260F |
probably damaging |
Het |
Dnajc2 |
C |
T |
5: 21,981,777 (GRCm39) |
R123Q |
probably damaging |
Het |
Dpysl2 |
T |
C |
14: 67,067,425 (GRCm39) |
N162S |
probably damaging |
Het |
Dsp |
T |
A |
13: 38,372,511 (GRCm39) |
|
probably null |
Het |
Edc4 |
T |
A |
8: 106,612,941 (GRCm39) |
|
probably null |
Het |
Efcab3 |
C |
A |
11: 104,601,539 (GRCm39) |
A284D |
probably benign |
Het |
Efcab3 |
G |
T |
11: 104,615,435 (GRCm39) |
|
probably null |
Het |
Epm2a |
T |
C |
10: 11,219,419 (GRCm39) |
Y69H |
probably benign |
Het |
Frzb |
C |
A |
2: 80,248,669 (GRCm39) |
E262* |
probably null |
Het |
Gaa |
T |
C |
11: 119,175,030 (GRCm39) |
V877A |
possibly damaging |
Het |
Gpnmb |
T |
C |
6: 49,028,949 (GRCm39) |
I489T |
possibly damaging |
Het |
Gpr31b |
T |
C |
17: 13,271,104 (GRCm39) |
T22A |
probably benign |
Het |
Gys1 |
T |
A |
7: 45,097,684 (GRCm39) |
F477Y |
possibly damaging |
Het |
Hoxc11 |
A |
C |
15: 102,863,487 (GRCm39) |
E176A |
possibly damaging |
Het |
Kcnk13 |
T |
A |
12: 100,028,076 (GRCm39) |
F384I |
probably damaging |
Het |
Ky |
A |
G |
9: 102,386,349 (GRCm39) |
E59G |
probably benign |
Het |
Lama4 |
T |
A |
10: 38,881,491 (GRCm39) |
D93E |
probably damaging |
Het |
Lrrc23 |
A |
T |
6: 124,755,152 (GRCm39) |
N128K |
probably benign |
Het |
Lrrc71 |
G |
T |
3: 87,650,633 (GRCm39) |
Q210K |
possibly damaging |
Het |
Map1a |
G |
A |
2: 121,135,124 (GRCm39) |
R1980H |
probably benign |
Het |
Med15 |
T |
C |
16: 17,515,977 (GRCm39) |
D15G |
unknown |
Het |
Mfng |
A |
T |
15: 78,657,268 (GRCm39) |
S69T |
probably benign |
Het |
Muc16 |
T |
G |
9: 18,409,866 (GRCm39) |
S181R |
probably damaging |
Het |
Mug1 |
A |
T |
6: 121,857,498 (GRCm39) |
Q1074L |
possibly damaging |
Het |
Myorg |
A |
G |
4: 41,498,028 (GRCm39) |
I534T |
probably damaging |
Het |
Nbea |
T |
A |
3: 55,912,322 (GRCm39) |
N1155I |
probably benign |
Het |
Nbeal1 |
T |
G |
1: 60,240,110 (GRCm39) |
L159V |
probably damaging |
Het |
Nudt1 |
C |
A |
5: 140,323,402 (GRCm39) |
P118Q |
possibly damaging |
Het |
Or2q1 |
A |
T |
6: 42,794,950 (GRCm39) |
T182S |
probably benign |
Het |
Or8g37 |
A |
C |
9: 39,731,154 (GRCm39) |
Q73P |
possibly damaging |
Het |
Pcdhga6 |
T |
A |
18: 37,842,173 (GRCm39) |
V631D |
probably benign |
Het |
Pcna |
A |
C |
2: 132,091,792 (GRCm39) |
V203G |
probably damaging |
Het |
Pgf |
G |
T |
12: 85,222,549 (GRCm39) |
N33K |
probably benign |
Het |
Pgm2 |
T |
C |
5: 64,263,193 (GRCm39) |
L280P |
probably damaging |
Het |
Plcg1 |
G |
A |
2: 160,573,794 (GRCm39) |
A20T |
probably benign |
Het |
Pou2af2 |
G |
T |
9: 51,201,733 (GRCm39) |
Q108K |
probably damaging |
Het |
Prdx5 |
G |
T |
19: 6,884,958 (GRCm39) |
D126E |
probably damaging |
Het |
Prkag2 |
T |
C |
5: 25,200,296 (GRCm39) |
T20A |
probably benign |
Het |
Pxdn |
T |
G |
12: 30,034,903 (GRCm39) |
D253E |
possibly damaging |
Het |
Rbm18 |
A |
T |
2: 36,012,905 (GRCm39) |
C53* |
probably null |
Het |
Rprm |
A |
T |
2: 53,975,270 (GRCm39) |
L16Q |
probably benign |
Het |
Saysd1 |
A |
G |
14: 20,127,576 (GRCm39) |
F116S |
probably damaging |
Het |
Scg3 |
A |
G |
9: 75,589,366 (GRCm39) |
S96P |
probably benign |
Het |
Scgb1b3 |
C |
T |
7: 31,075,078 (GRCm39) |
L16F |
unknown |
Het |
Sh3tc2 |
A |
G |
18: 62,122,474 (GRCm39) |
T412A |
probably benign |
Het |
Skint6 |
T |
C |
4: 113,095,566 (GRCm39) |
N31S |
probably benign |
Het |
Slc22a2 |
T |
C |
17: 12,805,770 (GRCm39) |
|
probably null |
Het |
Slc8a2 |
C |
T |
7: 15,874,538 (GRCm39) |
T262I |
possibly damaging |
Het |
Smarcc1 |
A |
T |
9: 109,979,082 (GRCm39) |
K188N |
probably damaging |
Het |
Taf6 |
T |
C |
5: 138,177,088 (GRCm39) |
T660A |
possibly damaging |
Het |
Tbx2 |
C |
T |
11: 85,725,540 (GRCm39) |
R164C |
probably damaging |
Het |
Tec |
T |
C |
5: 72,939,355 (GRCm39) |
D220G |
probably null |
Het |
Tfec |
A |
T |
6: 16,867,464 (GRCm39) |
W59R |
probably damaging |
Het |
Tmtc2 |
G |
T |
10: 105,409,587 (GRCm39) |
S8R |
probably benign |
Het |
Tmtc3 |
A |
T |
10: 100,283,467 (GRCm39) |
M696K |
probably benign |
Het |
Trpc3 |
A |
T |
3: 36,694,882 (GRCm39) |
S691T |
possibly damaging |
Het |
Ttf2 |
A |
T |
3: 100,866,623 (GRCm39) |
M503K |
probably benign |
Het |
Ttll7 |
A |
G |
3: 146,619,031 (GRCm39) |
H312R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,598,032 (GRCm39) |
Y19627C |
probably damaging |
Het |
Ugt2b35 |
T |
C |
5: 87,149,177 (GRCm39) |
S143P |
probably benign |
Het |
Usp53 |
A |
G |
3: 122,751,299 (GRCm39) |
S253P |
probably damaging |
Het |
Utp18 |
A |
G |
11: 93,776,206 (GRCm39) |
V93A |
probably benign |
Het |
Utrn |
T |
C |
10: 12,277,079 (GRCm39) |
N3413D |
possibly damaging |
Het |
Zhx1 |
T |
C |
15: 57,916,647 (GRCm39) |
D533G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCAGTCCTTCATCACCAG -3'
(R):5'- AAATGACTGCTGTACATTCCACG -3'
Sequencing Primer
(F):5'- CATCACCAGTTTCCATGTGAGTGG -3'
(R):5'- CACAGAGTGTCAAAATGTTCAGTCTC -3'
|
Posted On |
2019-06-26 |