Incidental Mutation 'R2129:Prr14l'
ID |
227823 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr14l
|
Ensembl Gene |
ENSMUSG00000054280 |
Gene Name |
proline rich 14-like |
Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
MMRRC Submission |
040132-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R2129 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
32947164-33011600 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to T
at 32989172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119569
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120129]
[ENSMUST00000130134]
[ENSMUST00000144673]
[ENSMUST00000155392]
|
AlphaFold |
E9Q7C4 |
Predicted Effect |
unknown
Transcript: ENSMUST00000120129
AA Change: P192Q
|
SMART Domains |
Protein: ENSMUSP00000113259 Gene: ENSMUSG00000054280 AA Change: P192Q
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
99% (91/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
G |
10: 87,066,066 (GRCm39) |
E249G |
possibly damaging |
Het |
2610028H24Rik |
A |
G |
10: 76,293,349 (GRCm39) |
M136V |
possibly damaging |
Het |
4930523C07Rik |
A |
T |
1: 159,902,945 (GRCm39) |
K72* |
probably null |
Het |
Abhd14a |
A |
T |
9: 106,318,064 (GRCm39) |
L125Q |
probably null |
Het |
Abhd17b |
T |
A |
19: 21,658,413 (GRCm39) |
|
probably null |
Het |
Abo |
G |
A |
2: 26,736,586 (GRCm39) |
T61I |
probably benign |
Het |
Adamts15 |
T |
C |
9: 30,815,799 (GRCm39) |
T686A |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,705,199 (GRCm39) |
F1537Y |
probably damaging |
Het |
Anxa2 |
A |
T |
9: 69,383,410 (GRCm39) |
Y75F |
possibly damaging |
Het |
Aqp3 |
T |
A |
4: 41,098,061 (GRCm39) |
I17F |
probably benign |
Het |
Aspm |
T |
C |
1: 139,385,373 (GRCm39) |
V339A |
probably benign |
Het |
Bri3bp |
T |
A |
5: 125,528,735 (GRCm39) |
L48* |
probably null |
Het |
Car7 |
T |
A |
8: 105,275,605 (GRCm39) |
C185S |
possibly damaging |
Het |
Casp8ap2 |
T |
C |
4: 32,640,142 (GRCm39) |
Y399H |
probably benign |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Chst10 |
A |
G |
1: 38,904,776 (GRCm39) |
Y203H |
probably benign |
Het |
Clca3a1 |
T |
C |
3: 144,722,526 (GRCm39) |
D282G |
probably damaging |
Het |
Coq3 |
T |
G |
4: 21,900,342 (GRCm39) |
S190A |
probably benign |
Het |
Crocc |
G |
A |
4: 140,744,407 (GRCm39) |
R1830C |
probably damaging |
Het |
Cygb |
A |
G |
11: 116,540,668 (GRCm39) |
L106P |
probably damaging |
Het |
Dab2 |
G |
T |
15: 6,365,864 (GRCm39) |
E87* |
probably null |
Het |
Dcst1 |
T |
A |
3: 89,264,852 (GRCm39) |
I299F |
probably damaging |
Het |
Dennd4a |
T |
G |
9: 64,813,256 (GRCm39) |
|
probably null |
Het |
Depdc7 |
A |
G |
2: 104,558,518 (GRCm39) |
S168P |
probably benign |
Het |
Dicer1 |
G |
A |
12: 104,688,290 (GRCm39) |
T429I |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,408,467 (GRCm39) |
Q3484R |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,618,242 (GRCm39) |
M125V |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,175,289 (GRCm39) |
S107P |
possibly damaging |
Het |
Emb |
T |
C |
13: 117,404,082 (GRCm39) |
V278A |
probably damaging |
Het |
Firrm |
T |
C |
1: 163,794,026 (GRCm39) |
Y518C |
probably damaging |
Het |
Foxk1 |
C |
A |
5: 142,420,943 (GRCm39) |
S189* |
probably null |
Het |
Galm |
T |
C |
17: 80,490,647 (GRCm39) |
I268T |
probably benign |
Het |
Gm5581 |
A |
C |
6: 131,145,247 (GRCm39) |
|
noncoding transcript |
Het |
Gpr6 |
G |
A |
10: 40,947,168 (GRCm39) |
S138L |
possibly damaging |
Het |
Hesx1 |
C |
A |
14: 26,722,802 (GRCm39) |
H42Q |
possibly damaging |
Het |
Hsp90b1 |
T |
C |
10: 86,531,570 (GRCm39) |
D421G |
probably damaging |
Het |
Kctd19 |
T |
C |
8: 106,111,804 (GRCm39) |
T31A |
probably damaging |
Het |
Kif1b |
G |
A |
4: 149,272,097 (GRCm39) |
S1568L |
possibly damaging |
Het |
Krtap19-3 |
T |
C |
16: 88,674,863 (GRCm39) |
|
probably benign |
Het |
Lin28a |
T |
A |
4: 133,745,465 (GRCm39) |
I43F |
probably benign |
Het |
Lrriq1 |
G |
A |
10: 103,050,718 (GRCm39) |
T678I |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,262,608 (GRCm39) |
|
probably benign |
Het |
Madcam1 |
A |
G |
10: 79,501,406 (GRCm39) |
E157G |
possibly damaging |
Het |
Mctp1 |
A |
G |
13: 76,972,941 (GRCm39) |
D648G |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,030,140 (GRCm39) |
L425P |
probably damaging |
Het |
Mospd4 |
A |
G |
18: 46,598,731 (GRCm39) |
|
noncoding transcript |
Het |
Mybpc1 |
T |
G |
10: 88,387,314 (GRCm39) |
T466P |
probably damaging |
Het |
Myo10 |
T |
C |
15: 25,781,885 (GRCm39) |
Y1127H |
probably benign |
Het |
Myo18b |
A |
T |
5: 112,978,944 (GRCm39) |
L1223Q |
probably damaging |
Het |
Myo9b |
T |
C |
8: 71,786,343 (GRCm39) |
Y670H |
probably damaging |
Het |
Ndufaf4 |
G |
T |
4: 24,898,608 (GRCm39) |
D55Y |
probably damaging |
Het |
Neurod2 |
G |
T |
11: 98,218,414 (GRCm39) |
A250E |
possibly damaging |
Het |
Nherf1 |
A |
T |
11: 115,067,270 (GRCm39) |
I174F |
probably damaging |
Het |
Nipsnap1 |
C |
A |
11: 4,838,932 (GRCm39) |
N119K |
probably benign |
Het |
Npffr2 |
A |
T |
5: 89,715,924 (GRCm39) |
I84F |
probably damaging |
Het |
Or10ab4 |
T |
A |
7: 107,655,111 (GRCm39) |
N307K |
probably benign |
Het |
Or11h23 |
A |
G |
14: 50,948,093 (GRCm39) |
Y102C |
probably damaging |
Het |
Or2t48 |
T |
C |
11: 58,420,437 (GRCm39) |
D125G |
probably damaging |
Het |
Pald1 |
A |
G |
10: 61,184,085 (GRCm39) |
|
probably null |
Het |
Palld |
T |
C |
8: 62,330,395 (GRCm39) |
S161G |
probably benign |
Het |
Paqr9 |
T |
A |
9: 95,443,122 (GRCm39) |
F371I |
probably benign |
Het |
Pear1 |
A |
T |
3: 87,665,666 (GRCm39) |
C120* |
probably null |
Het |
Pla2g4e |
A |
T |
2: 120,013,292 (GRCm39) |
F343I |
probably damaging |
Het |
Plxdc2 |
A |
T |
2: 16,516,902 (GRCm39) |
Y61F |
probably benign |
Het |
Polh |
G |
A |
17: 46,499,014 (GRCm39) |
Q234* |
probably null |
Het |
Prkce |
T |
A |
17: 86,803,463 (GRCm39) |
M454K |
possibly damaging |
Het |
Proser1 |
C |
A |
3: 53,385,366 (GRCm39) |
T416K |
probably benign |
Het |
Rabgap1l |
A |
T |
1: 160,566,527 (GRCm39) |
D90E |
probably benign |
Het |
Rp1l1 |
T |
A |
14: 64,266,415 (GRCm39) |
V667D |
possibly damaging |
Het |
Rpp40 |
A |
T |
13: 36,082,604 (GRCm39) |
C256* |
probably null |
Het |
Rps6ka5 |
A |
G |
12: 100,644,797 (GRCm39) |
L51P |
probably damaging |
Het |
Rtp2 |
C |
T |
16: 23,746,457 (GRCm39) |
C78Y |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,508,715 (GRCm39) |
|
probably benign |
Het |
Slc10a6 |
A |
G |
5: 103,756,922 (GRCm39) |
Y281H |
probably benign |
Het |
Slc6a21 |
T |
G |
7: 44,932,197 (GRCm39) |
|
probably null |
Het |
Smo |
A |
G |
6: 29,757,313 (GRCm39) |
Y476C |
probably damaging |
Het |
Tacr3 |
A |
T |
3: 134,560,621 (GRCm39) |
T187S |
probably damaging |
Het |
Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
Tasp1 |
T |
C |
2: 139,890,164 (GRCm39) |
K71E |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,566,743 (GRCm39) |
I1264V |
probably benign |
Het |
Tmem41a |
T |
C |
16: 21,764,911 (GRCm39) |
|
probably null |
Het |
Tmem63a |
A |
G |
1: 180,793,105 (GRCm39) |
N459D |
probably benign |
Het |
Ube2k |
A |
G |
5: 65,752,269 (GRCm39) |
T151A |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,773,034 (GRCm39) |
E402G |
probably benign |
Het |
Ulk4 |
T |
A |
9: 120,981,248 (GRCm39) |
I897F |
probably benign |
Het |
Usp30 |
A |
G |
5: 114,249,224 (GRCm39) |
E176G |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,649,917 (GRCm39) |
F431S |
probably damaging |
Het |
Vmn1r206 |
T |
C |
13: 22,804,782 (GRCm39) |
S142G |
probably benign |
Het |
Wdr17 |
C |
T |
8: 55,085,416 (GRCm39) |
V1236M |
probably damaging |
Het |
Zbtb32 |
T |
C |
7: 30,290,918 (GRCm39) |
K126E |
possibly damaging |
Het |
Zeb1 |
A |
T |
18: 5,767,681 (GRCm39) |
S731C |
possibly 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 |
|
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'- TTCCCAAAACTCATTGCTGGTC -3'
(R):5'- CCTACTAGTATGTCATACTGAGCTTTC -3'
Sequencing Primer
(F):5'- AAAACTCATTGCTGGTCATGCTC -3'
(R):5'- TGGCTGTCCTGGAACTCAC -3'
|
Posted On |
2014-09-17 |