Incidental Mutation 'R7624:Prr14l'
| ID |
589309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr14l
|
| Ensembl Gene |
ENSMUSG00000054280 |
| Gene Name |
proline rich 14-like |
| Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
| MMRRC Submission |
045689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R7624 (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 32986967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 843
(T843S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120129]
[ENSMUST00000144673]
[ENSMUST00000155392]
|
| AlphaFold |
E9Q7C4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120129
AA Change: T843S
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: T843S
| 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: 98.9%
|
| 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 |
|---|
| Atm |
C |
A |
9: 53,366,068 (GRCm39) |
R2533L |
probably damaging |
Het |
| Caprin1 |
T |
A |
2: 103,603,022 (GRCm39) |
M514L |
possibly damaging |
Het |
| Ccdc78 |
A |
G |
17: 26,006,126 (GRCm39) |
E98G |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,226,865 (GRCm39) |
M2741K |
possibly damaging |
Het |
| Cnot1 |
T |
G |
8: 96,478,447 (GRCm39) |
R959S |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,553,076 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
A |
G |
1: 82,696,605 (GRCm39) |
T177A |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,279,307 (GRCm39) |
N211D |
possibly damaging |
Het |
| Cripto |
C |
T |
9: 110,775,017 (GRCm39) |
|
probably benign |
Het |
| Cryba1 |
T |
C |
11: 77,613,543 (GRCm39) |
Y36C |
probably damaging |
Het |
| Ctnna1 |
T |
A |
18: 35,377,897 (GRCm39) |
I632N |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,126,498 (GRCm39) |
N1504S |
probably damaging |
Het |
| Dgkz |
C |
A |
2: 91,773,019 (GRCm39) |
R346L |
probably damaging |
Het |
| Dnajc21 |
G |
A |
15: 10,461,318 (GRCm39) |
R211C |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,461,320 (GRCm39) |
I210N |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,411,524 (GRCm39) |
D1784G |
probably damaging |
Het |
| Eya3 |
A |
G |
4: 132,400,262 (GRCm39) |
T94A |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,871,165 (GRCm39) |
D3742G |
possibly damaging |
Het |
| Ficd |
T |
C |
5: 113,876,751 (GRCm39) |
F309L |
probably benign |
Het |
| Gfra1 |
A |
T |
19: 58,226,878 (GRCm39) |
M451K |
probably benign |
Het |
| Gm43517 |
T |
A |
12: 49,437,961 (GRCm39) |
L318Q |
|
Het |
| Gsc |
A |
T |
12: 104,439,310 (GRCm39) |
V22E |
possibly damaging |
Het |
| Il4ra |
T |
C |
7: 125,168,280 (GRCm39) |
Y100H |
probably damaging |
Het |
| Ilf3 |
T |
C |
9: 21,309,340 (GRCm39) |
S486P |
probably benign |
Het |
| Itga10 |
T |
A |
3: 96,560,269 (GRCm39) |
H594Q |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,226,137 (GRCm39) |
D28G |
probably benign |
Het |
| Kiss1 |
A |
G |
1: 133,257,160 (GRCm39) |
K53R |
possibly damaging |
Het |
| Lcn5 |
A |
G |
2: 25,551,426 (GRCm39) |
I182V |
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,859,307 (GRCm39) |
D269G |
probably benign |
Het |
| Letm2 |
A |
T |
8: 26,082,553 (GRCm39) |
C174* |
probably null |
Het |
| Met |
T |
G |
6: 17,558,834 (GRCm39) |
V1154G |
probably damaging |
Het |
| Mindy3 |
A |
G |
2: 12,424,000 (GRCm39) |
S22P |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,946,613 (GRCm39) |
R471Q |
probably damaging |
Het |
| Nfe2l3 |
T |
C |
6: 51,435,252 (GRCm39) |
L604P |
probably damaging |
Het |
| Or12e10 |
A |
G |
2: 87,640,683 (GRCm39) |
Q173R |
probably damaging |
Het |
| Or14a256 |
A |
G |
7: 86,265,769 (GRCm39) |
F28S |
possibly damaging |
Het |
| Or5h18 |
T |
A |
16: 58,847,382 (GRCm39) |
Q296L |
possibly damaging |
Het |
| Or8b3b |
C |
T |
9: 38,583,919 (GRCm39) |
V274I |
probably benign |
Het |
| Or8u9 |
A |
T |
2: 86,001,564 (GRCm39) |
I199N |
possibly damaging |
Het |
| Or9r7 |
A |
C |
10: 129,962,455 (GRCm39) |
I157S |
probably damaging |
Het |
| Pcdha9 |
T |
A |
18: 37,132,849 (GRCm39) |
Y639* |
probably null |
Het |
| Pom121l2 |
A |
T |
13: 22,167,699 (GRCm39) |
I657L |
probably damaging |
Het |
| Rln1 |
A |
T |
19: 29,309,499 (GRCm39) |
N93K |
probably damaging |
Het |
| Rpl3l |
A |
T |
17: 24,951,401 (GRCm39) |
M101L |
probably benign |
Het |
| Rtkn |
A |
G |
6: 83,129,158 (GRCm39) |
Y551C |
probably benign |
Het |
| Rundc1 |
G |
C |
11: 101,324,305 (GRCm39) |
R337P |
possibly damaging |
Het |
| Scarf1 |
T |
A |
11: 75,405,242 (GRCm39) |
|
probably null |
Het |
| Serpinb1b |
T |
A |
13: 33,275,622 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
A |
T |
5: 113,422,201 (GRCm39) |
C484* |
probably null |
Het |
| Slc22a19 |
T |
A |
19: 7,650,668 (GRCm39) |
K547* |
probably null |
Het |
| Slc22a19 |
T |
C |
19: 7,671,183 (GRCm39) |
T177A |
probably benign |
Het |
| Slc6a5 |
A |
C |
7: 49,591,614 (GRCm39) |
K526N |
probably benign |
Het |
| Sqle |
G |
A |
15: 59,202,603 (GRCm39) |
R519Q |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,518,627 (GRCm39) |
I517T |
probably benign |
Het |
| Taf15 |
A |
T |
11: 83,395,849 (GRCm39) |
D518V |
unknown |
Het |
| Tenm4 |
A |
G |
7: 96,545,192 (GRCm39) |
M2440V |
possibly damaging |
Het |
| Tm6sf1 |
A |
G |
7: 81,518,458 (GRCm39) |
M122V |
possibly damaging |
Het |
| Tmprss9 |
T |
A |
10: 80,728,053 (GRCm39) |
S548T |
possibly damaging |
Het |
| Trim62 |
A |
T |
4: 128,777,471 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
C |
T |
5: 87,039,141 (GRCm39) |
V507M |
possibly damaging |
Het |
| Usp16 |
T |
A |
16: 87,273,693 (GRCm39) |
M423K |
probably benign |
Het |
| Vmn1r199 |
T |
A |
13: 22,566,906 (GRCm39) |
S67T |
probably benign |
Het |
| Vmn1r62 |
A |
T |
7: 5,678,600 (GRCm39) |
M94L |
probably benign |
Het |
| Wnk4 |
G |
T |
11: 101,155,180 (GRCm39) |
E364* |
probably null |
Het |
| Xpo1 |
T |
A |
11: 23,232,584 (GRCm39) |
I368N |
probably damaging |
Het |
| Zfp366 |
A |
G |
13: 99,382,804 (GRCm39) |
T656A |
probably benign |
Het |
| Zfp934 |
T |
C |
13: 62,666,338 (GRCm39) |
M113V |
probably benign |
Het |
| Zkscan2 |
A |
G |
7: 123,097,994 (GRCm39) |
V134A |
probably 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 |
|
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'- TAGATGCTTCCACACCCAGC -3'
(R):5'- GAAACATTAGTGGACCAGTCTCTGAG -3'
Sequencing Primer
(F):5'- GAGGCTCATCTGTGCAGTC -3'
(R):5'- AGTGGACCAGTCTCTGAGTATTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation