Incidental Mutation 'R4868:Prr14l'
| ID |
376311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr14l
|
| Ensembl Gene |
ENSMUSG00000054280 |
| Gene Name |
proline rich 14-like |
| Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
| MMRRC Submission |
042478-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R4868 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
32947164-33011600 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32987281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 738
(M738K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120129]
[ENSMUST00000144673]
[ENSMUST00000155392]
|
| AlphaFold |
E9Q7C4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120129
AA Change: M738K
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: M738K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
99% (91/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,436,729 (GRCm39) |
*299W |
probably null |
Het |
| 4933412E24Rik |
G |
A |
15: 59,887,817 (GRCm39) |
L208F |
possibly damaging |
Het |
| Abca8b |
G |
A |
11: 109,865,338 (GRCm39) |
A373V |
probably benign |
Het |
| Actn3 |
A |
T |
19: 4,914,482 (GRCm39) |
W549R |
probably benign |
Het |
| Adamts4 |
C |
T |
1: 171,080,000 (GRCm39) |
|
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,011,179 (GRCm39) |
I615V |
probably benign |
Het |
| Akap1 |
A |
G |
11: 88,735,379 (GRCm39) |
S428P |
possibly damaging |
Het |
| Akap13 |
A |
T |
7: 75,393,252 (GRCm39) |
R2476W |
probably damaging |
Het |
| Alx3 |
A |
G |
3: 107,507,943 (GRCm39) |
S151G |
possibly damaging |
Het |
| Aoah |
T |
A |
13: 21,099,151 (GRCm39) |
Y243* |
probably null |
Het |
| Asap1 |
A |
G |
15: 63,966,030 (GRCm39) |
V1025A |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,684,937 (GRCm39) |
I728N |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,755,226 (GRCm39) |
V1001L |
possibly damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,909,615 (GRCm39) |
S1030T |
probably benign |
Het |
| Cacna2d3 |
A |
T |
14: 28,678,743 (GRCm39) |
|
probably null |
Het |
| Casp3 |
A |
T |
8: 47,087,314 (GRCm39) |
N87I |
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,612,569 (GRCm39) |
L995Q |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,924,776 (GRCm39) |
Y637N |
probably damaging |
Het |
| Ccr4 |
A |
G |
9: 114,321,901 (GRCm39) |
F55L |
probably benign |
Het |
| Cmah |
T |
A |
13: 24,648,247 (GRCm39) |
V494E |
probably damaging |
Het |
| Cnot6l |
A |
G |
5: 96,230,882 (GRCm39) |
Y362H |
probably damaging |
Het |
| Coq6 |
T |
C |
12: 84,417,726 (GRCm39) |
V222A |
probably damaging |
Het |
| Ctdspl2 |
C |
A |
2: 121,823,879 (GRCm39) |
T240N |
possibly damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,085,754 (GRCm39) |
T248A |
possibly damaging |
Het |
| Dctn6 |
A |
T |
8: 34,559,230 (GRCm39) |
|
probably benign |
Het |
| Dhx34 |
T |
C |
7: 15,933,727 (GRCm39) |
D955G |
probably benign |
Het |
| Dnaaf5 |
A |
G |
5: 139,155,941 (GRCm39) |
M541V |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,999,038 (GRCm39) |
S912T |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,354,474 (GRCm39) |
V2248E |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,156,675 (GRCm39) |
W1502R |
probably damaging |
Het |
| Dzip1 |
A |
T |
14: 119,114,626 (GRCm39) |
V843E |
probably damaging |
Het |
| Esp23 |
G |
T |
17: 39,384,915 (GRCm39) |
T27K |
probably benign |
Het |
| Esp3 |
A |
T |
17: 40,944,420 (GRCm39) |
M21L |
possibly damaging |
Het |
| Fam43b |
T |
A |
4: 138,123,108 (GRCm39) |
T71S |
probably benign |
Het |
| Fpgs |
G |
A |
2: 32,582,673 (GRCm39) |
R63C |
probably damaging |
Het |
| H2-M11 |
G |
T |
17: 36,859,811 (GRCm39) |
W268L |
probably damaging |
Het |
| Inpp5b |
T |
C |
4: 124,645,203 (GRCm39) |
S210P |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,582,205 (GRCm39) |
S51T |
probably damaging |
Het |
| Kctd2 |
G |
A |
11: 115,320,205 (GRCm39) |
V246I |
probably damaging |
Het |
| Krt75 |
C |
T |
15: 101,476,556 (GRCm39) |
G403E |
probably damaging |
Het |
| Lamp3 |
T |
A |
16: 19,520,040 (GRCm39) |
T48S |
probably benign |
Het |
| Lyzl4 |
C |
A |
9: 121,412,075 (GRCm39) |
V114L |
probably damaging |
Het |
| Maml3 |
C |
A |
3: 52,011,345 (GRCm39) |
E74* |
probably null |
Het |
| Map2k7 |
G |
A |
8: 4,297,751 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip3 |
A |
G |
17: 25,120,389 (GRCm39) |
V883A |
probably benign |
Het |
| Mbtps1 |
C |
T |
8: 120,235,667 (GRCm39) |
V1004I |
probably benign |
Het |
| Metap1 |
G |
T |
3: 138,188,850 (GRCm39) |
H48Q |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,917,831 (GRCm39) |
V396E |
probably damaging |
Het |
| Mks1 |
T |
A |
11: 87,744,549 (GRCm39) |
|
probably benign |
Het |
| Ndst1 |
T |
C |
18: 60,828,548 (GRCm39) |
T669A |
probably benign |
Het |
| Obox3 |
T |
C |
7: 15,361,235 (GRCm39) |
K10R |
probably damaging |
Het |
| Opn3 |
T |
C |
1: 175,491,127 (GRCm39) |
Y302C |
probably damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,916 (GRCm39) |
S207T |
probably damaging |
Het |
| Or6b6 |
C |
T |
7: 106,570,974 (GRCm39) |
M192I |
probably benign |
Het |
| Or9g8 |
T |
G |
2: 85,606,970 (GRCm39) |
V14G |
possibly damaging |
Het |
| Pdzph1 |
A |
T |
17: 59,281,751 (GRCm39) |
V177D |
probably benign |
Het |
| Pex5l |
T |
A |
3: 33,006,639 (GRCm39) |
I577F |
probably damaging |
Het |
| Pmpcb |
T |
A |
5: 21,953,851 (GRCm39) |
Y366* |
probably null |
Het |
| Prx |
T |
C |
7: 27,217,004 (GRCm39) |
S641P |
probably benign |
Het |
| Ptchd3 |
A |
G |
11: 121,721,883 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Reg3a |
A |
G |
6: 78,358,883 (GRCm39) |
E27G |
probably damaging |
Het |
| Ripor2 |
A |
G |
13: 24,878,124 (GRCm39) |
T300A |
possibly damaging |
Het |
| Sdf4 |
T |
A |
4: 156,093,642 (GRCm39) |
S259T |
probably damaging |
Het |
| Sike1 |
A |
G |
3: 102,904,730 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
G |
3: 72,850,881 (GRCm39) |
I606L |
probably benign |
Het |
| Slc30a9 |
T |
C |
5: 67,482,026 (GRCm39) |
I94T |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,014,065 (GRCm39) |
I424T |
probably damaging |
Het |
| Spx |
C |
T |
6: 142,362,116 (GRCm39) |
R72* |
probably null |
Het |
| St7 |
C |
A |
6: 17,819,265 (GRCm39) |
N56K |
probably damaging |
Het |
| Tcte2 |
C |
A |
17: 13,948,270 (GRCm39) |
G3V |
probably damaging |
Het |
| Tent5b |
A |
G |
4: 133,213,393 (GRCm39) |
|
probably null |
Het |
| Tgfb3 |
T |
C |
12: 86,108,955 (GRCm39) |
D258G |
probably benign |
Het |
| Timeless |
G |
T |
10: 128,083,230 (GRCm39) |
G659V |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,958,443 (GRCm39) |
R467G |
possibly damaging |
Het |
| Tor1b |
T |
C |
2: 30,846,589 (GRCm39) |
|
probably null |
Het |
| Trank1 |
T |
A |
9: 111,194,709 (GRCm39) |
L911Q |
probably damaging |
Het |
| Ttll2 |
C |
T |
17: 7,618,998 (GRCm39) |
V310I |
probably benign |
Het |
| Ttyh3 |
A |
T |
5: 140,615,221 (GRCm39) |
I389N |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,406,417 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,536,488 (GRCm39) |
V216A |
probably benign |
Het |
| Vezf1 |
T |
A |
11: 87,965,520 (GRCm39) |
V254E |
probably damaging |
Het |
| Vmn1r122 |
T |
C |
7: 20,867,227 (GRCm39) |
E276G |
probably benign |
Het |
| Vmn1r167 |
T |
A |
7: 23,204,161 (GRCm39) |
N285I |
probably benign |
Het |
| Vmn2r45 |
T |
A |
7: 8,484,480 (GRCm39) |
I442F |
probably benign |
Het |
| Vwa8 |
C |
A |
14: 79,420,522 (GRCm39) |
A1741E |
probably damaging |
Het |
| Wdr20 |
T |
A |
12: 110,704,668 (GRCm39) |
V69E |
probably damaging |
Het |
| Xkr4 |
T |
G |
1: 3,287,074 (GRCm39) |
Q372P |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGAGACTTCATCTGCTTTCTG -3'
(R):5'- CAGGATGGTAATCACTGTTCCC -3'
Sequencing Primer
(F):5'- AAGATTTTCAGCTGCTTGGTAC -3'
(R):5'- GGATGGTAATCACTGTTCCCAAAGAC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation