Incidental Mutation 'R7649:Prr14l'
| ID |
590686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr14l
|
| Ensembl Gene |
ENSMUSG00000054280 |
| Gene Name |
proline rich 14-like |
| Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
| MMRRC Submission |
045646-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R7649 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
32947164-33011600 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32985589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 1302
(G1302D)
|
| 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: G1302D
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113259
Gene: ENSMUSG00000054280
AA Change: G1302D
| 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 damaging
Transcript: ENSMUST00000155392
AA Change: G145D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119569
Gene: ENSMUSG00000054280
AA Change: G145D
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3b |
T |
C |
5: 26,053,364 (GRCm39) |
V319A |
probably benign |
Het |
| Adam28 |
T |
A |
14: 68,872,282 (GRCm39) |
Y320F |
probably benign |
Het |
| Adam4 |
T |
C |
12: 81,467,151 (GRCm39) |
Y490C |
probably damaging |
Het |
| Ampd3 |
G |
T |
7: 110,377,049 (GRCm39) |
L13F |
probably benign |
Het |
| Arhgap45 |
C |
A |
10: 79,866,835 (GRCm39) |
Q1113K |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,954,175 (GRCm39) |
T370A |
possibly damaging |
Het |
| Arl15 |
A |
G |
13: 114,104,208 (GRCm39) |
D115G |
possibly damaging |
Het |
| AW146154 |
G |
A |
7: 41,130,156 (GRCm39) |
T320I |
probably benign |
Het |
| Cdh17 |
C |
T |
4: 11,814,698 (GRCm39) |
P751L |
probably damaging |
Het |
| Chchd4 |
C |
T |
6: 91,444,754 (GRCm39) |
R11Q |
probably benign |
Het |
| Clta |
T |
G |
4: 44,025,494 (GRCm39) |
I140R |
possibly damaging |
Het |
| Cnpy1 |
T |
C |
5: 28,412,282 (GRCm39) |
T84A |
probably benign |
Het |
| Cpne5 |
T |
C |
17: 29,445,172 (GRCm39) |
D44G |
probably damaging |
Het |
| Crkl |
T |
C |
16: 17,270,366 (GRCm39) |
S9P |
unknown |
Het |
| Csmd3 |
T |
C |
15: 47,532,539 (GRCm39) |
D1641G |
|
Het |
| Ctnnd2 |
A |
G |
15: 31,027,630 (GRCm39) |
T1185A |
probably benign |
Het |
| Dlc1 |
A |
T |
8: 37,049,894 (GRCm39) |
L607Q |
probably damaging |
Het |
| Dpy19l2 |
T |
C |
9: 24,607,459 (GRCm39) |
M1V |
probably null |
Het |
| Dst |
T |
C |
1: 34,206,778 (GRCm39) |
V982A |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,334,429 (GRCm39) |
I922V |
probably benign |
Het |
| Fbxl13 |
T |
C |
5: 21,819,664 (GRCm39) |
E245G |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,790,928 (GRCm39) |
S730P |
possibly damaging |
Het |
| Ggt1 |
T |
C |
10: 75,421,290 (GRCm39) |
V468A |
possibly damaging |
Het |
| Gja5 |
A |
T |
3: 96,958,957 (GRCm39) |
H338L |
probably benign |
Het |
| Herpud2 |
T |
C |
9: 25,021,902 (GRCm39) |
E248G |
possibly damaging |
Het |
| Il17rd |
C |
A |
14: 26,761,167 (GRCm39) |
A36E |
probably benign |
Het |
| Irf2bpl |
T |
C |
12: 86,929,572 (GRCm39) |
Y367C |
possibly damaging |
Het |
| Lama1 |
T |
A |
17: 68,044,549 (GRCm39) |
D149E |
|
Het |
| Lipf |
A |
T |
19: 33,943,098 (GRCm39) |
E135D |
possibly damaging |
Het |
| Manea |
T |
A |
4: 26,328,234 (GRCm39) |
D269V |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,349,542 (GRCm39) |
Y910C |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,911,909 (GRCm39) |
R1928W |
probably damaging |
Het |
| Or13c3 |
G |
A |
4: 52,855,692 (GRCm39) |
Q274* |
probably null |
Het |
| Or5b108 |
T |
A |
19: 13,168,136 (GRCm39) |
I35N |
possibly damaging |
Het |
| Plch1 |
G |
T |
3: 63,605,590 (GRCm39) |
S1438* |
probably null |
Het |
| Por |
T |
C |
5: 135,763,359 (GRCm39) |
F595L |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,378,480 (GRCm39) |
R634H |
probably benign |
Het |
| Rcan3 |
A |
T |
4: 135,139,799 (GRCm39) |
S135T |
probably benign |
Het |
| Rnf223 |
A |
G |
4: 156,216,660 (GRCm39) |
M12V |
probably benign |
Het |
| Rps6kb2 |
A |
G |
19: 4,207,020 (GRCm39) |
S483P |
unknown |
Het |
| Sacs |
T |
A |
14: 61,440,677 (GRCm39) |
F908I |
possibly damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,661,430 (GRCm39) |
Q64R |
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,756,667 (GRCm39) |
I552F |
probably benign |
Het |
| Sppl2b |
C |
T |
10: 80,703,253 (GRCm39) |
P505L |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,061,002 (GRCm39) |
S2434P |
possibly damaging |
Het |
| Ssh1 |
A |
T |
5: 114,088,612 (GRCm39) |
M395K |
probably benign |
Het |
| Stk10 |
A |
T |
11: 32,527,764 (GRCm39) |
I171F |
|
Het |
| Tmx3 |
C |
T |
18: 90,558,154 (GRCm39) |
A402V |
probably damaging |
Het |
| Tnfrsf13c |
T |
C |
15: 82,108,341 (GRCm39) |
D58G |
possibly damaging |
Het |
| Tnk1 |
T |
C |
11: 69,744,403 (GRCm39) |
|
probably null |
Het |
| Trav14n-3 |
A |
T |
14: 53,607,951 (GRCm39) |
N94Y |
probably damaging |
Het |
| Trav5-4 |
A |
T |
14: 53,941,902 (GRCm39) |
K92* |
probably null |
Het |
| Tsga10 |
C |
T |
1: 37,874,229 (GRCm39) |
R190H |
unknown |
Het |
| Zfhx3 |
T |
C |
8: 109,678,276 (GRCm39) |
F3109L |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,307,170 (GRCm39) |
Y132C |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,413 (GRCm39) |
E1000G |
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 |
|
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 |
|
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'- TACATGGGCTGAGAAGTCTGTG -3'
(R):5'- CAGGATAAGCAACCTGTGGC -3'
Sequencing Primer
(F):5'- TGGGTTAGAGAAACTCTTTCCAC -3'
(R):5'- TGGCTGACCAAGATGAGTCCATC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation