Incidental Mutation 'R6283:Prr14l'
| ID |
508042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr14l
|
| Ensembl Gene |
ENSMUSG00000054280 |
| Gene Name |
proline rich 14-like |
| Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
| MMRRC Submission |
044453-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R6283 (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 C
at 32987608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 629
(E629G)
|
| 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: E629G
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: E629G
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
C |
A |
8: 123,512,694 (GRCm39) |
R372S |
probably damaging |
Het |
| Adamts20 |
A |
G |
15: 94,249,602 (GRCm39) |
S472P |
probably benign |
Het |
| Bhlhe40 |
T |
C |
6: 108,641,992 (GRCm39) |
L312P |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,902,486 (GRCm39) |
E305G |
possibly damaging |
Het |
| Ccdc83 |
T |
A |
7: 89,885,615 (GRCm39) |
R257* |
probably null |
Het |
| Cd209e |
G |
A |
8: 3,899,212 (GRCm39) |
Q167* |
probably null |
Het |
| Cd300e |
G |
A |
11: 114,945,380 (GRCm39) |
T138I |
probably benign |
Het |
| Ces2c |
A |
T |
8: 105,576,331 (GRCm39) |
M115L |
probably benign |
Het |
| Cfap61 |
T |
A |
2: 145,971,022 (GRCm39) |
|
probably null |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,985,459 (GRCm39) |
S301L |
probably damaging |
Het |
| Cks2 |
A |
G |
13: 51,799,495 (GRCm39) |
H16R |
probably benign |
Het |
| Copa |
A |
T |
1: 171,946,415 (GRCm39) |
H953L |
possibly damaging |
Het |
| Ctdsp2 |
T |
C |
10: 126,831,749 (GRCm39) |
V145A |
possibly damaging |
Het |
| Cyp2j13 |
A |
G |
4: 95,945,074 (GRCm39) |
V377A |
possibly damaging |
Het |
| Dhx57 |
A |
G |
17: 80,582,234 (GRCm39) |
V404A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,598,152 (GRCm39) |
S340G |
probably damaging |
Het |
| Ggps1 |
A |
G |
13: 14,232,379 (GRCm39) |
|
probably null |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11444 |
T |
C |
11: 85,737,617 (GRCm39) |
|
probably null |
Het |
| Grina |
A |
G |
15: 76,132,751 (GRCm39) |
T173A |
possibly damaging |
Het |
| Hcrtr1 |
G |
A |
4: 130,029,133 (GRCm39) |
T223I |
probably benign |
Het |
| Igsf10 |
T |
A |
3: 59,226,870 (GRCm39) |
T2268S |
probably damaging |
Het |
| Inhca |
G |
A |
9: 103,159,834 (GRCm39) |
R14* |
probably null |
Het |
| Ino80d |
C |
T |
1: 63,101,285 (GRCm39) |
R447Q |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 82,497,462 (GRCm39) |
T94M |
probably damaging |
Het |
| Itga2 |
A |
G |
13: 115,005,786 (GRCm39) |
Y465H |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,767 (GRCm39) |
T823A |
probably damaging |
Het |
| Krtap4-16 |
A |
G |
11: 99,741,861 (GRCm39) |
S180P |
unknown |
Het |
| Ldc1 |
A |
G |
4: 130,115,534 (GRCm39) |
S5P |
probably benign |
Het |
| Lpar6 |
A |
T |
14: 73,476,297 (GRCm39) |
D86V |
probably damaging |
Het |
| Muc5ac |
C |
A |
7: 141,370,601 (GRCm39) |
C2500* |
probably null |
Het |
| Mzf1 |
T |
C |
7: 12,787,296 (GRCm39) |
|
probably benign |
Het |
| Or4f58 |
A |
C |
2: 111,851,605 (GRCm39) |
M198R |
possibly damaging |
Het |
| Or5d46 |
T |
A |
2: 88,170,002 (GRCm39) |
I31N |
probably benign |
Het |
| Or5m3 |
G |
T |
2: 85,838,443 (GRCm39) |
V108L |
possibly damaging |
Het |
| Or7a36 |
T |
C |
10: 78,820,113 (GRCm39) |
V163A |
probably benign |
Het |
| Otogl |
T |
G |
10: 107,626,361 (GRCm39) |
E1501A |
probably damaging |
Het |
| Pcdh10 |
T |
A |
3: 45,335,989 (GRCm39) |
S768T |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,604,325 (GRCm39) |
Q644K |
probably damaging |
Het |
| Pdzd9 |
T |
A |
7: 120,259,449 (GRCm39) |
I180F |
possibly damaging |
Het |
| Pinx1 |
A |
C |
14: 64,115,621 (GRCm39) |
N152T |
probably benign |
Het |
| Qpctl |
T |
A |
7: 18,882,345 (GRCm39) |
I104F |
probably benign |
Het |
| Rabep1 |
C |
T |
11: 70,808,505 (GRCm39) |
A444V |
probably damaging |
Het |
| Rnf150 |
A |
G |
8: 83,717,183 (GRCm39) |
Y230C |
probably damaging |
Het |
| Slc25a27 |
A |
C |
17: 43,968,621 (GRCm39) |
V152G |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,260,084 (GRCm39) |
S772P |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,523,701 (GRCm39) |
T1711A |
probably benign |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Tmem265 |
T |
G |
7: 127,164,044 (GRCm39) |
V86G |
possibly damaging |
Het |
| Trpm8 |
C |
T |
1: 88,276,054 (GRCm39) |
H551Y |
probably benign |
Het |
| Ttc6 |
T |
G |
12: 57,749,048 (GRCm39) |
Y1327D |
possibly damaging |
Het |
| Uevld |
G |
T |
7: 46,587,729 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r73 |
C |
T |
7: 85,521,049 (GRCm39) |
M306I |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,524,366 (GRCm39) |
M120K |
probably benign |
Het |
| Zfp804b |
T |
A |
5: 6,819,908 (GRCm39) |
I1016F |
probably benign |
Het |
| Zfp90 |
T |
C |
8: 107,152,026 (GRCm39) |
C580R |
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 |
|
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'- AGGGTGCTCTTTTCTACAAAACC -3'
(R):5'- CTCAAACCATTCCTGCTGAGAC -3'
Sequencing Primer
(F):5'- GTCTTTGGGAACAGTGATTACCATCC -3'
(R):5'- CATTCCTGCTGAGACAAAAATGG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation