Incidental Mutation 'R7101:Prr14l'
| ID |
550806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr14l
|
| Ensembl Gene |
ENSMUSG00000054280 |
| Gene Name |
proline rich 14-like |
| Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
| MMRRC Submission |
045193-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R7101 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
32947164-33011600 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32986771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 908
(L908P)
|
| 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: L908P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: L908P
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,208,438 (GRCm39) |
D568G |
probably benign |
Het |
| Angpt1 |
T |
C |
15: 42,386,965 (GRCm39) |
I130V |
probably benign |
Het |
| Ankrd11 |
G |
T |
8: 123,622,194 (GRCm39) |
Q553K |
probably benign |
Het |
| Ankrd42 |
A |
T |
7: 92,280,752 (GRCm39) |
H59Q |
possibly damaging |
Het |
| Ankrd52 |
C |
T |
10: 128,218,249 (GRCm39) |
R318C |
probably damaging |
Het |
| Arrdc5 |
G |
A |
17: 56,601,522 (GRCm39) |
T201M |
probably damaging |
Het |
| Atxn1l |
A |
G |
8: 110,459,132 (GRCm39) |
S377P |
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,957,056 (GRCm39) |
F936S |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,766,483 (GRCm39) |
D913G |
probably damaging |
Het |
| Blnk |
T |
A |
19: 40,961,082 (GRCm39) |
M21L |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,587,401 (GRCm39) |
H132R |
probably benign |
Het |
| Ccdc154 |
A |
G |
17: 25,382,442 (GRCm39) |
H88R |
probably benign |
Het |
| Cfap20dc |
G |
T |
14: 8,511,171 (GRCm38) |
S414R |
possibly damaging |
Het |
| Clic5 |
G |
T |
17: 44,586,179 (GRCm39) |
A223S |
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,014,795 (GRCm39) |
Y870F |
possibly damaging |
Het |
| Dhx37 |
G |
A |
5: 125,502,006 (GRCm39) |
Q497* |
probably null |
Het |
| Dnah11 |
T |
C |
12: 118,031,880 (GRCm39) |
T1763A |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,042,221 (GRCm39) |
R2005G |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,389,722 (GRCm39) |
G541S |
probably benign |
Het |
| Drosha |
C |
T |
15: 12,865,153 (GRCm39) |
T627M |
probably damaging |
Het |
| Ephb3 |
C |
T |
16: 21,037,268 (GRCm39) |
H455Y |
possibly damaging |
Het |
| Eri1 |
A |
C |
8: 35,949,777 (GRCm39) |
C127G |
probably damaging |
Het |
| Faf1 |
A |
T |
4: 109,783,153 (GRCm39) |
E548D |
probably benign |
Het |
| Gm3285 |
C |
A |
10: 77,698,194 (GRCm39) |
C114* |
probably null |
Het |
| Gm9736 |
C |
T |
10: 77,587,167 (GRCm39) |
V8I |
unknown |
Het |
| Gnptab |
A |
T |
10: 88,276,174 (GRCm39) |
M1154L |
probably benign |
Het |
| Grin1 |
G |
A |
2: 25,186,647 (GRCm39) |
T770M |
probably damaging |
Het |
| Haus1 |
A |
G |
18: 77,854,570 (GRCm39) |
S67P |
possibly damaging |
Het |
| Homer1 |
C |
A |
13: 93,492,562 (GRCm39) |
Q184K |
probably benign |
Het |
| Hook2 |
A |
G |
8: 85,723,680 (GRCm39) |
T401A |
probably benign |
Het |
| Il6st |
G |
A |
13: 112,631,907 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
A |
T |
17: 53,212,038 (GRCm39) |
D612V |
probably damaging |
Het |
| Ltbr |
C |
G |
6: 125,289,763 (GRCm39) |
E144Q |
probably benign |
Het |
| Mcf2l |
G |
T |
8: 13,063,579 (GRCm39) |
R961L |
possibly damaging |
Het |
| Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
| Myo1b |
G |
T |
1: 51,797,160 (GRCm39) |
Q961K |
probably benign |
Het |
| Myo1h |
C |
A |
5: 114,480,258 (GRCm39) |
T531N |
|
Het |
| Ngly1 |
G |
A |
14: 16,283,445 (GRCm38) |
R408Q |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,632,966 (GRCm39) |
E1055G |
possibly damaging |
Het |
| Nutm2 |
A |
G |
13: 50,626,934 (GRCm39) |
K363R |
probably benign |
Het |
| Obox8 |
A |
T |
7: 14,066,752 (GRCm39) |
Y97* |
probably null |
Het |
| Odc1 |
A |
G |
12: 17,597,319 (GRCm39) |
D7G |
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,252,558 (GRCm39) |
T182I |
unknown |
Het |
| Or2t49 |
A |
G |
11: 58,393,379 (GRCm39) |
M7T |
probably benign |
Het |
| Or4c111 |
A |
T |
2: 88,844,324 (GRCm39) |
V28E |
possibly damaging |
Het |
| Or8b12b |
T |
C |
9: 37,684,287 (GRCm39) |
S111P |
probably damaging |
Het |
| Or8b46 |
G |
A |
9: 38,450,966 (GRCm39) |
M258I |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,827,430 (GRCm39) |
D188G |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,122,922 (GRCm39) |
E400G |
probably benign |
Het |
| Phlpp1 |
G |
A |
1: 106,100,397 (GRCm39) |
V222M |
possibly damaging |
Het |
| Ppp1r16b |
T |
C |
2: 158,603,683 (GRCm39) |
V536A |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,223,833 (GRCm39) |
V719A |
possibly damaging |
Het |
| Prpf8 |
C |
T |
11: 75,381,226 (GRCm39) |
A242V |
possibly damaging |
Het |
| Prrc2b |
A |
G |
2: 32,117,005 (GRCm39) |
N2146D |
possibly damaging |
Het |
| Rtkn |
T |
C |
6: 83,126,993 (GRCm39) |
V333A |
possibly damaging |
Het |
| Samd8 |
T |
C |
14: 21,825,442 (GRCm39) |
Y196H |
probably benign |
Het |
| Six5 |
A |
G |
7: 18,828,784 (GRCm39) |
T75A |
probably benign |
Het |
| Slc35a4 |
T |
A |
18: 36,814,591 (GRCm39) |
L42H |
probably damaging |
Het |
| Svs3a |
A |
T |
2: 164,131,933 (GRCm39) |
D168V |
probably damaging |
Het |
| Themis |
T |
A |
10: 28,637,422 (GRCm39) |
Y175* |
probably null |
Het |
| Tspan33 |
G |
T |
6: 29,716,783 (GRCm39) |
R180L |
probably benign |
Het |
| Ttc28 |
C |
T |
5: 111,232,958 (GRCm39) |
S145F |
probably damaging |
Het |
| Txn2 |
G |
A |
15: 77,810,878 (GRCm39) |
T102I |
unknown |
Het |
| Usp34 |
T |
A |
11: 23,376,183 (GRCm39) |
V1908E |
|
Het |
| Vmn2r101 |
A |
G |
17: 19,809,350 (GRCm39) |
I160V |
probably null |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,358 (GRCm39) |
C638S |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,682,777 (GRCm39) |
R3136Q |
|
Het |
| Zan |
C |
A |
5: 137,396,552 (GRCm39) |
A4335S |
unknown |
Het |
| Zfp180 |
G |
T |
7: 23,803,958 (GRCm39) |
V126F |
probably benign |
Het |
| Zfp429 |
T |
A |
13: 67,538,931 (GRCm39) |
D171V |
possibly damaging |
Het |
| Zfp638 |
T |
C |
6: 83,931,708 (GRCm39) |
I798T |
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 |
|
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 |
|
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'- AGAGTCTGGACAGTCTTCCATTTC -3'
(R):5'- GATCTGACAGTCAGCTCAGG -3'
Sequencing Primer
(F):5'- TGGACAGTCTTCCATTTCATAGTC -3'
(R):5'- TCAGGCAGTAAAGTCCCTCTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation