Incidental Mutation 'R0086:Prr14l'
| ID |
19888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr14l
|
| Ensembl Gene |
ENSMUSG00000054280 |
| Gene Name |
proline rich 14-like |
| Synonyms |
|
| MMRRC Submission |
038373-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
R0086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
32789820-32854256 bp(-) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 32831559 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120129]
[ENSMUST00000130134]
[ENSMUST00000144673]
[ENSMUST00000155392]
|
| AlphaFold |
E9Q7C4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120129
|
| SMART Domains |
Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.0%
- 10x: 94.6%
- 20x: 86.6%
|
| Validation Efficiency |
96% (91/95) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
A |
15: 82,062,601 (GRCm38) |
V233D |
probably benign |
Het |
| Abcg8 |
T |
C |
17: 84,692,771 (GRCm38) |
V252A |
probably damaging |
Het |
| Adam39 |
C |
T |
8: 40,826,360 (GRCm38) |
T596I |
possibly damaging |
Het |
| Agap2 |
C |
A |
10: 127,087,882 (GRCm38) |
|
probably null |
Het |
| Ap4b1 |
T |
G |
3: 103,814,860 (GRCm38) |
V50G |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 69,797,774 (GRCm38) |
I381N |
possibly damaging |
Het |
| Bcl2 |
G |
A |
1: 106,712,562 (GRCm38) |
R107C |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,593,166 (GRCm38) |
V1113A |
possibly damaging |
Het |
| C1galt1 |
T |
A |
6: 7,867,051 (GRCm38) |
|
probably benign |
Het |
| Capza2 |
A |
G |
6: 17,660,774 (GRCm38) |
K158E |
probably damaging |
Het |
| Cenpe |
C |
T |
3: 135,264,424 (GRCm38) |
|
probably benign |
Het |
| Cercam |
T |
C |
2: 29,871,064 (GRCm38) |
L42P |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 93,028,594 (GRCm38) |
E807G |
possibly damaging |
Het |
| Cog6 |
A |
G |
3: 52,993,570 (GRCm38) |
V157A |
probably damaging |
Het |
| Cts6 |
A |
T |
13: 61,196,457 (GRCm38) |
|
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,510,913 (GRCm38) |
I15F |
unknown |
Het |
| Dock7 |
A |
T |
4: 98,945,144 (GRCm38) |
V1970D |
probably damaging |
Het |
| Exph5 |
A |
G |
9: 53,337,930 (GRCm38) |
D73G |
possibly damaging |
Het |
| Gjc2 |
A |
T |
11: 59,176,846 (GRCm38) |
M270K |
probably benign |
Het |
| Gns |
G |
A |
10: 121,391,473 (GRCm38) |
D463N |
probably damaging |
Het |
| Hoxd8 |
G |
T |
2: 74,705,932 (GRCm38) |
G129W |
probably damaging |
Het |
| Ina |
A |
G |
19: 47,023,591 (GRCm38) |
T483A |
possibly damaging |
Het |
| Lmod3 |
T |
A |
6: 97,247,345 (GRCm38) |
Q505L |
probably damaging |
Het |
| Map3k13 |
A |
G |
16: 21,914,225 (GRCm38) |
N526D |
probably damaging |
Het |
| Map3k2 |
A |
T |
18: 32,218,468 (GRCm38) |
I435F |
probably damaging |
Het |
| Mfsd6l |
A |
G |
11: 68,556,565 (GRCm38) |
T81A |
probably benign |
Het |
| Micall1 |
T |
C |
15: 79,125,489 (GRCm38) |
|
probably benign |
Het |
| Mkrn2 |
G |
T |
6: 115,613,335 (GRCm38) |
M217I |
possibly damaging |
Het |
| Myh11 |
C |
A |
16: 14,224,019 (GRCm38) |
Q720H |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,676,744 (GRCm38) |
|
probably null |
Het |
| Nlrp9a |
G |
A |
7: 26,558,547 (GRCm38) |
C530Y |
probably damaging |
Het |
| Numb |
T |
C |
12: 83,795,930 (GRCm38) |
T442A |
probably damaging |
Het |
| Oip5 |
C |
T |
2: 119,617,929 (GRCm38) |
|
probably benign |
Het |
| Olfr1224-ps1 |
C |
T |
2: 89,156,476 (GRCm38) |
R233H |
probably benign |
Het |
| Olfr342 |
A |
T |
2: 36,527,450 (GRCm38) |
I13F |
possibly damaging |
Het |
| Olfr639 |
A |
G |
7: 104,012,054 (GRCm38) |
I216T |
probably benign |
Het |
| Olfr936 |
T |
C |
9: 39,046,895 (GRCm38) |
T175A |
probably benign |
Het |
| Pcnx |
T |
C |
12: 81,992,058 (GRCm38) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,556,008 (GRCm38) |
N2956K |
possibly damaging |
Het |
| Plcl1 |
T |
A |
1: 55,715,583 (GRCm38) |
W1030R |
probably damaging |
Het |
| Polr2i |
G |
A |
7: 30,233,086 (GRCm38) |
V73M |
probably damaging |
Het |
| Pxdn |
G |
T |
12: 30,002,419 (GRCm38) |
R865L |
possibly damaging |
Het |
| Scnn1a |
T |
C |
6: 125,342,587 (GRCm38) |
|
probably benign |
Het |
| Shkbp1 |
G |
T |
7: 27,352,026 (GRCm38) |
H203N |
probably benign |
Het |
| Skiv2l2 |
G |
T |
13: 112,927,328 (GRCm38) |
F10L |
probably benign |
Het |
| Slc22a14 |
C |
T |
9: 119,222,738 (GRCm38) |
|
probably benign |
Het |
| Snap29 |
C |
A |
16: 17,428,236 (GRCm38) |
T240K |
probably damaging |
Het |
| Sp2 |
C |
A |
11: 96,957,427 (GRCm38) |
G457C |
probably damaging |
Het |
| Ssr2 |
C |
T |
3: 88,576,880 (GRCm38) |
|
probably benign |
Het |
| Synpo2 |
A |
T |
3: 123,117,104 (GRCm38) |
C297* |
probably null |
Het |
| Tpm3 |
T |
A |
3: 90,090,092 (GRCm38) |
|
probably benign |
Het |
| Trmt6 |
CTG |
C |
2: 132,809,017 (GRCm38) |
|
probably benign |
Het |
| Trp63 |
T |
C |
16: 25,871,087 (GRCm38) |
Y431H |
probably damaging |
Het |
| Tuba3b |
T |
A |
6: 145,621,160 (GRCm38) |
C376S |
probably damaging |
Het |
| Ubxn4 |
G |
A |
1: 128,262,904 (GRCm38) |
E256K |
probably benign |
Het |
| Ulk1 |
G |
A |
5: 110,787,707 (GRCm38) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,392,360 (GRCm38) |
S1425P |
probably damaging |
Het |
| Xdh |
T |
C |
17: 73,884,438 (GRCm38) |
I1335V |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,464,232 (GRCm38) |
Y352H |
probably damaging |
Het |
|
| Other mutations in Prr14l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Prr14l
|
APN |
5 |
32,830,676 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL00331:Prr14l
|
APN |
5 |
32,831,066 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01571:Prr14l
|
APN |
5 |
32,828,806 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01795:Prr14l
|
APN |
5 |
32,831,845 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01929:Prr14l
|
APN |
5 |
32,828,243 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL01959:Prr14l
|
APN |
5 |
32,830,205 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL02139:Prr14l
|
APN |
5 |
32,827,532 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02321:Prr14l
|
APN |
5 |
32,827,807 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02508:Prr14l
|
APN |
5 |
32,830,942 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02551:Prr14l
|
APN |
5 |
32,831,484 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02585:Prr14l
|
APN |
5 |
32,829,484 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
IGL02614:Prr14l
|
APN |
5 |
32,830,543 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL02808:Prr14l
|
APN |
5 |
32,828,182 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02836:Prr14l
|
APN |
5 |
32,831,096 (GRCm38) |
missense |
probably benign |
0.42 |
|
IGL02952:Prr14l
|
APN |
5 |
32,835,670 (GRCm38) |
missense |
unknown |
|
|
IGL03034:Prr14l
|
APN |
5 |
32,827,438 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
Polymer
|
UTSW |
5 |
32,827,145 (GRCm38) |
missense |
probably benign |
0.34 |
|
Postwar
|
UTSW |
5 |
32,830,684 (GRCm38) |
missense |
probably benign |
0.17 |
|
H8562:Prr14l
|
UTSW |
5 |
32,793,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0149:Prr14l
|
UTSW |
5 |
32,793,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0333:Prr14l
|
UTSW |
5 |
32,827,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0361:Prr14l
|
UTSW |
5 |
32,793,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0416:Prr14l
|
UTSW |
5 |
32,828,717 (GRCm38) |
missense |
probably benign |
0.25 |
|
R0480:Prr14l
|
UTSW |
5 |
32,829,880 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0511:Prr14l
|
UTSW |
5 |
32,844,216 (GRCm38) |
intron |
probably benign |
|
|
R0639:Prr14l
|
UTSW |
5 |
32,828,915 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0673:Prr14l
|
UTSW |
5 |
32,828,915 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0743:Prr14l
|
UTSW |
5 |
32,831,194 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R0792:Prr14l
|
UTSW |
5 |
32,828,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1006:Prr14l
|
UTSW |
5 |
32,829,482 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1342:Prr14l
|
UTSW |
5 |
32,830,260 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1433:Prr14l
|
UTSW |
5 |
32,828,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1527:Prr14l
|
UTSW |
5 |
32,827,949 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R1704:Prr14l
|
UTSW |
5 |
32,830,282 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1967:Prr14l
|
UTSW |
5 |
32,844,469 (GRCm38) |
intron |
probably benign |
|
|
R2129:Prr14l
|
UTSW |
5 |
32,831,828 (GRCm38) |
unclassified |
probably benign |
|
|
R2150:Prr14l
|
UTSW |
5 |
32,830,702 (GRCm38) |
missense |
probably benign |
0.14 |
|
R2318:Prr14l
|
UTSW |
5 |
32,830,078 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2915:Prr14l
|
UTSW |
5 |
32,829,768 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3551:Prr14l
|
UTSW |
5 |
32,828,619 (GRCm38) |
splice site |
probably null |
|
|
R3820:Prr14l
|
UTSW |
5 |
32,828,984 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3852:Prr14l
|
UTSW |
5 |
32,830,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4126:Prr14l
|
UTSW |
5 |
32,828,003 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4345:Prr14l
|
UTSW |
5 |
32,828,576 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4388:Prr14l
|
UTSW |
5 |
32,829,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4575:Prr14l
|
UTSW |
5 |
32,793,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4596:Prr14l
|
UTSW |
5 |
32,829,308 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4690:Prr14l
|
UTSW |
5 |
32,844,156 (GRCm38) |
intron |
probably benign |
|
|
R4824:Prr14l
|
UTSW |
5 |
32,844,399 (GRCm38) |
intron |
probably benign |
|
|
R4868:Prr14l
|
UTSW |
5 |
32,829,937 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4869:Prr14l
|
UTSW |
5 |
32,828,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5201:Prr14l
|
UTSW |
5 |
32,830,247 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R5328:Prr14l
|
UTSW |
5 |
32,830,021 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5410:Prr14l
|
UTSW |
5 |
32,827,777 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5476:Prr14l
|
UTSW |
5 |
32,844,138 (GRCm38) |
intron |
probably benign |
|
|
R5623:Prr14l
|
UTSW |
5 |
32,844,508 (GRCm38) |
intron |
probably benign |
|
|
R5730:Prr14l
|
UTSW |
5 |
32,793,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5988:Prr14l
|
UTSW |
5 |
32,830,851 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6261:Prr14l
|
UTSW |
5 |
32,829,404 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R6283:Prr14l
|
UTSW |
5 |
32,830,264 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6307:Prr14l
|
UTSW |
5 |
32,827,525 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6825:Prr14l
|
UTSW |
5 |
32,828,548 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6862:Prr14l
|
UTSW |
5 |
32,827,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6880:Prr14l
|
UTSW |
5 |
32,830,867 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6931:Prr14l
|
UTSW |
5 |
32,830,691 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7101:Prr14l
|
UTSW |
5 |
32,829,427 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7164:Prr14l
|
UTSW |
5 |
32,829,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7203:Prr14l
|
UTSW |
5 |
32,827,145 (GRCm38) |
missense |
probably benign |
0.34 |
|
R7211:Prr14l
|
UTSW |
5 |
32,830,087 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7305:Prr14l
|
UTSW |
5 |
32,831,101 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7346:Prr14l
|
UTSW |
5 |
32,830,684 (GRCm38) |
missense |
probably benign |
0.17 |
|
R7395:Prr14l
|
UTSW |
5 |
32,828,638 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7624:Prr14l
|
UTSW |
5 |
32,829,623 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R7649:Prr14l
|
UTSW |
5 |
32,828,245 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7753:Prr14l
|
UTSW |
5 |
32,827,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7828:Prr14l
|
UTSW |
5 |
32,844,391 (GRCm38) |
intron |
probably benign |
|
|
R7898:Prr14l
|
UTSW |
5 |
32,829,966 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8071:Prr14l
|
UTSW |
5 |
32,831,164 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9052:Prr14l
|
UTSW |
5 |
32,830,134 (GRCm38) |
nonsense |
probably null |
|
|
R9136:Prr14l
|
UTSW |
5 |
32,828,736 (GRCm38) |
missense |
|
|
|
R9682:Prr14l
|
UTSW |
5 |
32,830,679 (GRCm38) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTACTGGATTCCACAGCCCTTTC -3'
(R):5'- TGGCACTGTGAGACAACATCTGAC -3'
Sequencing Primer
(F):5'- GGGTTTTTTCAGCACACGC -3'
(R):5'- GACCAGCAATGAGTTTTGGG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation