Incidental Mutation 'R0743:Prr14l'
ID |
70769 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr14l
|
Ensembl Gene |
ENSMUSG00000054280 |
Gene Name |
proline rich 14-like |
Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
MMRRC Submission |
038924-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R0743 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
32947164-33011600 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 32988538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 319
(C319F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120129]
[ENSMUST00000130134]
[ENSMUST00000144673]
[ENSMUST00000155392]
|
AlphaFold |
E9Q7C4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120129
AA Change: C319F
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113259 Gene: ENSMUSG00000054280 AA Change: C319F
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 92.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
A |
T |
14: 118,790,700 (GRCm39) |
I844N |
possibly damaging |
Het |
Bend7 |
A |
T |
2: 4,749,055 (GRCm39) |
K57N |
probably damaging |
Het |
Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
Cfap91 |
A |
G |
16: 38,155,996 (GRCm39) |
F76L |
probably damaging |
Het |
Csmd2 |
A |
T |
4: 128,007,469 (GRCm39) |
T149S |
probably benign |
Het |
Cyp2a12 |
T |
C |
7: 26,731,967 (GRCm39) |
I236T |
probably benign |
Het |
Dennd2b |
A |
G |
7: 109,156,552 (GRCm39) |
L66P |
probably damaging |
Het |
Dnase1l2 |
A |
G |
17: 24,660,854 (GRCm39) |
V170A |
possibly damaging |
Het |
Dnm2 |
T |
A |
9: 21,411,561 (GRCm39) |
Y597N |
probably damaging |
Het |
Epsti1 |
A |
T |
14: 78,168,715 (GRCm39) |
R117S |
probably damaging |
Het |
Gabarapl2 |
A |
T |
8: 112,669,137 (GRCm39) |
I32F |
probably damaging |
Het |
Glrb |
T |
A |
3: 80,786,987 (GRCm39) |
I59F |
probably damaging |
Het |
Gosr1 |
A |
G |
11: 76,620,972 (GRCm39) |
I239T |
probably benign |
Het |
Kif5b |
G |
T |
18: 6,209,192 (GRCm39) |
R857S |
probably damaging |
Het |
Kmt5a |
C |
A |
5: 124,585,282 (GRCm39) |
N44K |
probably damaging |
Het |
Ksr1 |
A |
T |
11: 78,912,329 (GRCm39) |
H675Q |
possibly damaging |
Het |
Mep1b |
A |
G |
18: 21,213,515 (GRCm39) |
D68G |
possibly damaging |
Het |
Nebl |
A |
C |
2: 17,415,929 (GRCm39) |
S327A |
probably benign |
Het |
Nfat5 |
G |
A |
8: 108,094,698 (GRCm39) |
E962K |
probably damaging |
Het |
Nfatc4 |
A |
C |
14: 56,064,101 (GRCm39) |
D126A |
probably damaging |
Het |
Nmt2 |
A |
T |
2: 3,315,822 (GRCm39) |
R271* |
probably null |
Het |
Nol7 |
G |
A |
13: 43,554,091 (GRCm39) |
V133I |
probably benign |
Het |
Npepps |
A |
G |
11: 97,096,884 (GRCm39) |
|
probably benign |
Het |
Nphp3 |
GCATCATCATCATCATC |
GCATCATCATCATC |
9: 103,899,967 (GRCm39) |
|
probably benign |
Het |
Or1e1c |
A |
T |
11: 73,265,715 (GRCm39) |
I47F |
probably benign |
Het |
Or51ag1 |
C |
T |
7: 103,156,069 (GRCm39) |
W28* |
probably null |
Het |
Or6c66 |
T |
A |
10: 129,461,712 (GRCm39) |
T73S |
probably benign |
Het |
Or8h10 |
G |
A |
2: 86,808,843 (GRCm39) |
T99I |
probably benign |
Het |
Ovgp1 |
T |
A |
3: 105,882,248 (GRCm39) |
L37H |
probably damaging |
Het |
Padi3 |
G |
T |
4: 140,513,740 (GRCm39) |
A646D |
probably benign |
Het |
Pamr1 |
A |
G |
2: 102,440,252 (GRCm39) |
E142G |
probably damaging |
Het |
Papolg |
A |
T |
11: 23,820,818 (GRCm39) |
|
probably null |
Het |
Pate8 |
T |
C |
9: 36,492,597 (GRCm39) |
S103G |
probably benign |
Het |
Pfkl |
C |
T |
10: 77,831,077 (GRCm39) |
|
probably null |
Het |
Plrg1 |
T |
C |
3: 82,967,224 (GRCm39) |
S132P |
probably benign |
Het |
Pramel23 |
A |
T |
4: 143,425,134 (GRCm39) |
I103N |
probably damaging |
Het |
Prtn3 |
T |
A |
10: 79,715,511 (GRCm39) |
M1K |
probably null |
Het |
Ptpn22 |
T |
C |
3: 103,809,487 (GRCm39) |
F700S |
probably damaging |
Het |
Ptprz1 |
C |
T |
6: 23,044,366 (GRCm39) |
Q1273* |
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,569,415 (GRCm39) |
D4963G |
probably damaging |
Het |
Sec16a |
G |
A |
2: 26,309,734 (GRCm39) |
L2091F |
possibly damaging |
Het |
Senp6 |
C |
T |
9: 80,000,871 (GRCm39) |
R27C |
probably damaging |
Het |
Shcbp1 |
T |
A |
8: 4,814,906 (GRCm39) |
M191L |
probably benign |
Het |
Sirt4 |
T |
C |
5: 115,621,014 (GRCm39) |
K53E |
probably benign |
Het |
Slc10a2 |
A |
G |
8: 5,139,132 (GRCm39) |
S271P |
probably damaging |
Het |
Slc35b2 |
T |
A |
17: 45,877,751 (GRCm39) |
F293I |
probably damaging |
Het |
Slc38a10 |
C |
T |
11: 120,031,469 (GRCm39) |
V103M |
probably damaging |
Het |
Stab2 |
T |
A |
10: 86,723,759 (GRCm39) |
I1479F |
probably damaging |
Het |
Synpo2 |
A |
G |
3: 122,906,355 (GRCm39) |
V987A |
probably benign |
Het |
Syt9 |
A |
G |
7: 107,035,768 (GRCm39) |
I262V |
probably damaging |
Het |
Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
Tmem39a |
A |
T |
16: 38,405,764 (GRCm39) |
I200F |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,579,613 (GRCm39) |
T23760M |
probably damaging |
Het |
Uqcrc1 |
C |
T |
9: 108,773,773 (GRCm39) |
Q22* |
probably null |
Het |
Wdtc1 |
A |
G |
4: 133,027,972 (GRCm39) |
W377R |
probably damaging |
Het |
Zfp454 |
A |
G |
11: 50,764,764 (GRCm39) |
S223P |
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 |
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 |
PCR Primer
(F):5'- AGAGCGTTTCTCAGGATGGGTCAC -3'
(R):5'- AGTCTCAGCCACTGCAAGGAAAAG -3'
Sequencing Primer
(F):5'- TTCTCAGGATGGGTCACATCAAC -3'
(R):5'- TAGATACTGTAAAGCCCTCCGAAG -3'
|
Posted On |
2013-09-30 |