Incidental Mutation 'R0361:Prr14l'
| ID |
66479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr14l
|
| Ensembl Gene |
ENSMUSG00000054280 |
| Gene Name |
proline rich 14-like |
| Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
| MMRRC Submission |
038567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R0361 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
32947164-33011600 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 32950985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 1936
(L1936R)
|
| 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: L1936R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: L1936R
| 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 |
noncoding transcript
Transcript: ENSMUST00000147752
|
| 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 |
0.6466 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
100% (1/1) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
G |
3: 124,207,283 (GRCm39) |
T303P |
possibly damaging |
Het |
| 1700010I14Rik |
G |
T |
17: 9,211,378 (GRCm39) |
V176L |
probably benign |
Het |
| 1700034J05Rik |
T |
C |
6: 146,853,869 (GRCm39) |
T262A |
possibly damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,908,544 (GRCm39) |
I1165F |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,780,267 (GRCm39) |
I1773T |
probably damaging |
Het |
| Api5 |
A |
T |
2: 94,253,842 (GRCm39) |
L287* |
probably null |
Het |
| Apol10b |
A |
T |
15: 77,469,586 (GRCm39) |
M197K |
possibly damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,424 (GRCm39) |
R63W |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,608,396 (GRCm39) |
M731T |
probably damaging |
Het |
| Cav1 |
C |
A |
6: 17,339,352 (GRCm39) |
R146S |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,881,820 (GRCm39) |
I1118F |
probably damaging |
Het |
| Cdk7 |
A |
T |
13: 100,848,062 (GRCm39) |
Y153* |
probably null |
Het |
| Cemip |
A |
G |
7: 83,613,218 (GRCm39) |
I660T |
probably benign |
Het |
| Cfap65 |
A |
T |
1: 74,964,599 (GRCm39) |
L518Q |
probably damaging |
Het |
| Cgas |
T |
A |
9: 78,340,534 (GRCm39) |
K399N |
probably damaging |
Het |
| Cngb3 |
A |
G |
4: 19,366,467 (GRCm39) |
H176R |
probably benign |
Het |
| Cstdc4 |
T |
C |
16: 36,004,648 (GRCm39) |
S7P |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,308,351 (GRCm39) |
I1263F |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,044,258 (GRCm39) |
M1867T |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,388,327 (GRCm39) |
L202P |
probably damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,057,769 (GRCm39) |
S100P |
probably benign |
Het |
| Efr3b |
A |
T |
12: 4,027,923 (GRCm39) |
S376T |
probably benign |
Het |
| Eps8l2 |
A |
C |
7: 140,936,112 (GRCm39) |
N222T |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,608,806 (GRCm39) |
Y158N |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,964,159 (GRCm39) |
V91A |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,909,699 (GRCm39) |
V2101A |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,805,849 (GRCm39) |
S723P |
possibly damaging |
Het |
| Garem1 |
G |
T |
18: 21,432,801 (GRCm39) |
C9* |
probably null |
Het |
| Gdpd5 |
A |
G |
7: 99,107,997 (GRCm39) |
I530V |
possibly damaging |
Het |
| Gm15217 |
T |
A |
14: 46,617,841 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,289 (GRCm39) |
T478A |
probably benign |
Het |
| H2-M5 |
A |
G |
17: 37,298,328 (GRCm39) |
I329T |
possibly damaging |
Het |
| Ing4 |
G |
A |
6: 125,024,857 (GRCm39) |
C200Y |
probably damaging |
Het |
| Kcnip1 |
A |
T |
11: 33,793,177 (GRCm39) |
M5K |
probably benign |
Het |
| Kdsr |
T |
C |
1: 106,675,517 (GRCm39) |
E102G |
probably damaging |
Het |
| Krt15 |
C |
T |
11: 100,024,007 (GRCm39) |
V346M |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrc55 |
A |
T |
2: 85,026,589 (GRCm39) |
M145K |
probably damaging |
Het |
| Lrrtm2 |
A |
G |
18: 35,345,985 (GRCm39) |
I439T |
probably benign |
Het |
| Map2k6 |
T |
C |
11: 110,390,335 (GRCm39) |
F290L |
probably damaging |
Het |
| Me1 |
T |
A |
9: 86,533,055 (GRCm39) |
I136F |
probably damaging |
Het |
| Mfap2 |
A |
G |
4: 140,742,294 (GRCm39) |
D98G |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mst1 |
T |
C |
9: 107,962,096 (GRCm39) |
F696L |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,096,961 (GRCm39) |
|
probably null |
Het |
| Myh15 |
A |
T |
16: 48,934,368 (GRCm39) |
N645I |
probably benign |
Het |
| Myo7b |
T |
A |
18: 32,147,262 (GRCm39) |
I94F |
probably damaging |
Het |
| Nefh |
A |
T |
11: 4,890,799 (GRCm39) |
S607T |
probably benign |
Het |
| Noa1 |
G |
A |
5: 77,445,020 (GRCm39) |
Q600* |
probably null |
Het |
| Nr2f2 |
A |
G |
7: 70,007,810 (GRCm39) |
V71A |
possibly damaging |
Het |
| Oas2 |
A |
T |
5: 120,876,466 (GRCm39) |
F492L |
probably damaging |
Het |
| Olfm3 |
T |
A |
3: 114,914,622 (GRCm39) |
D211E |
probably damaging |
Het |
| Or2y17 |
A |
T |
11: 49,231,641 (GRCm39) |
Y94F |
probably benign |
Het |
| Osmr |
A |
G |
15: 6,871,432 (GRCm39) |
|
probably null |
Het |
| Plagl2 |
A |
T |
2: 153,073,523 (GRCm39) |
D459E |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,091,168 (GRCm39) |
D148G |
possibly damaging |
Het |
| Plxnc1 |
C |
A |
10: 94,700,869 (GRCm39) |
C605F |
probably damaging |
Het |
| Ppm1m |
T |
C |
9: 106,075,325 (GRCm39) |
E108G |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,354 (GRCm39) |
I1771T |
possibly damaging |
Het |
| Rhobtb2 |
T |
C |
14: 70,033,357 (GRCm39) |
T538A |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,813,588 (GRCm39) |
N1025D |
possibly damaging |
Het |
| Sec23a |
T |
G |
12: 59,037,804 (GRCm39) |
D324A |
probably damaging |
Het |
| Srgap1 |
A |
T |
10: 121,883,097 (GRCm39) |
M1K |
probably null |
Het |
| Syne2 |
T |
A |
12: 75,965,384 (GRCm39) |
F801I |
probably benign |
Het |
| Synrg |
T |
A |
11: 83,915,163 (GRCm39) |
|
probably null |
Het |
| Tas2r140 |
T |
G |
6: 40,468,232 (GRCm39) |
F21V |
probably benign |
Het |
| Tmem260 |
A |
T |
14: 48,689,504 (GRCm39) |
T108S |
possibly damaging |
Het |
| Trim2 |
T |
C |
3: 84,098,083 (GRCm39) |
Y406C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,673,746 (GRCm39) |
|
probably benign |
Het |
| Vmn1r53 |
A |
T |
6: 90,201,064 (GRCm39) |
S87T |
possibly damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,564,196 (GRCm39) |
Y123N |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,496,715 (GRCm39) |
I46F |
probably benign |
Het |
| Zan |
T |
C |
5: 137,395,028 (GRCm39) |
T4381A |
unknown |
Het |
| Zfp457 |
A |
G |
13: 67,440,710 (GRCm39) |
F622L |
probably damaging |
Het |
| Zfp994 |
A |
T |
17: 22,419,091 (GRCm39) |
N619K |
probably benign |
Het |
| Zfy1 |
T |
C |
Y: 726,121 (GRCm39) |
H548R |
possibly damaging |
Het |
| Zmym4 |
A |
T |
4: 126,804,938 (GRCm39) |
S441T |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-08-19 |
Incidental Mutation