Incidental Mutation 'R6261:Prr14l'
ID |
506689 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr14l
|
Ensembl Gene |
ENSMUSG00000054280 |
Gene Name |
proline rich 14-like |
Synonyms |
Prl14l, 6030436E02Rik, C330019G07Rik |
MMRRC Submission |
044404-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R6261 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
32947164-33011600 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32986748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 916
(S916P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113259
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120129]
[ENSMUST00000144673]
[ENSMUST00000155392]
|
AlphaFold |
E9Q7C4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120129
AA Change: S916P
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113259 Gene: ENSMUSG00000054280 AA Change: S916P
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: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot8 |
T |
C |
2: 164,636,979 (GRCm39) |
D257G |
probably damaging |
Het |
Adamtsl1 |
T |
C |
4: 86,255,115 (GRCm39) |
V736A |
probably benign |
Het |
Anln |
A |
G |
9: 22,275,342 (GRCm39) |
L521S |
probably damaging |
Het |
Arfgap2 |
T |
G |
2: 91,100,627 (GRCm39) |
S311A |
probably benign |
Het |
Brdt |
A |
T |
5: 107,496,369 (GRCm39) |
E160D |
probably benign |
Het |
Ccdc187 |
A |
G |
2: 26,166,215 (GRCm39) |
I738T |
probably damaging |
Het |
Cd59a |
G |
C |
2: 103,934,550 (GRCm39) |
G6A |
probably damaging |
Het |
Cd5l |
C |
T |
3: 87,275,915 (GRCm39) |
P295L |
probably benign |
Het |
Cdhr17 |
T |
C |
5: 17,017,183 (GRCm39) |
|
noncoding transcript |
Het |
Cnot1 |
A |
G |
8: 96,468,549 (GRCm39) |
S1432P |
probably benign |
Het |
Cnot8 |
T |
A |
11: 58,004,877 (GRCm39) |
I192N |
probably damaging |
Het |
Col4a1 |
G |
T |
8: 11,257,409 (GRCm39) |
|
probably null |
Het |
Cuta |
A |
G |
17: 27,158,301 (GRCm39) |
L11P |
possibly damaging |
Het |
Cyp2c39 |
G |
A |
19: 39,556,463 (GRCm39) |
R433H |
probably damaging |
Het |
Cyp4a12b |
T |
A |
4: 115,271,740 (GRCm39) |
Y150* |
probably null |
Het |
Dcaf15 |
G |
A |
8: 84,825,734 (GRCm39) |
A291V |
probably benign |
Het |
Dcstamp |
A |
T |
15: 39,618,131 (GRCm39) |
H180L |
possibly damaging |
Het |
Egfr |
A |
G |
11: 16,839,964 (GRCm39) |
I659M |
probably benign |
Het |
Fzd8 |
A |
G |
18: 9,214,598 (GRCm39) |
E560G |
possibly damaging |
Het |
Gm5111 |
A |
T |
6: 48,566,526 (GRCm39) |
|
probably benign |
Het |
Gm7945 |
T |
C |
14: 41,104,780 (GRCm39) |
T214A |
unknown |
Het |
Gpi1 |
T |
C |
7: 33,920,170 (GRCm39) |
T168A |
possibly damaging |
Het |
Gys2 |
T |
C |
6: 142,405,134 (GRCm39) |
I218V |
probably benign |
Het |
Gzmf |
T |
A |
14: 56,443,949 (GRCm39) |
I74L |
probably benign |
Het |
Hacl1 |
G |
A |
14: 31,357,728 (GRCm39) |
A70V |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,846,820 (GRCm39) |
L3590* |
probably null |
Het |
Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
Igfals |
G |
T |
17: 25,100,339 (GRCm39) |
V477F |
possibly damaging |
Het |
Igkv8-28 |
A |
T |
6: 70,120,874 (GRCm39) |
V23E |
probably benign |
Het |
Isg20l2 |
T |
A |
3: 87,839,395 (GRCm39) |
V202E |
probably damaging |
Het |
Jakmip2 |
A |
G |
18: 43,708,599 (GRCm39) |
I288T |
probably benign |
Het |
Kansl3 |
A |
G |
1: 36,404,686 (GRCm39) |
V88A |
probably benign |
Het |
Kcna3 |
A |
G |
3: 106,945,266 (GRCm39) |
T510A |
possibly damaging |
Het |
Map2k5 |
G |
T |
9: 63,245,380 (GRCm39) |
L140I |
probably benign |
Het |
Map3k19 |
A |
G |
1: 127,750,336 (GRCm39) |
I1005T |
possibly damaging |
Het |
Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
Ms4a14 |
T |
A |
19: 11,281,384 (GRCm39) |
E391D |
probably benign |
Het |
Mtrf1l |
A |
G |
10: 5,765,550 (GRCm39) |
|
probably null |
Het |
Myom1 |
A |
G |
17: 71,433,132 (GRCm39) |
N1591S |
probably damaging |
Het |
Nos1 |
G |
A |
5: 118,074,635 (GRCm39) |
V1060M |
probably benign |
Het |
Nsun5 |
C |
T |
5: 135,400,385 (GRCm39) |
T142M |
probably damaging |
Het |
Odc1 |
A |
G |
12: 17,600,655 (GRCm39) |
E430G |
probably benign |
Het |
Or8g36 |
C |
A |
9: 39,422,105 (GRCm39) |
V304F |
probably benign |
Het |
P2ry12 |
T |
C |
3: 59,125,328 (GRCm39) |
I116V |
probably null |
Het |
Patl1 |
T |
A |
19: 11,897,695 (GRCm39) |
V94E |
probably damaging |
Het |
Plin3 |
A |
T |
17: 56,588,488 (GRCm39) |
Y255* |
probably null |
Het |
Pou6f1 |
T |
C |
15: 100,477,827 (GRCm39) |
T439A |
probably damaging |
Het |
Prdm13 |
T |
C |
4: 21,678,366 (GRCm39) |
K708R |
probably damaging |
Het |
Rab34 |
T |
A |
11: 78,082,028 (GRCm39) |
|
probably null |
Het |
Rps7 |
A |
G |
12: 28,685,593 (GRCm39) |
S21P |
possibly damaging |
Het |
Scn9a |
A |
T |
2: 66,314,240 (GRCm39) |
L1815Q |
probably damaging |
Het |
Sesn3 |
A |
G |
9: 14,232,459 (GRCm39) |
Y244C |
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,581,973 (GRCm39) |
F284L |
probably benign |
Het |
Slc25a44 |
C |
T |
3: 88,328,218 (GRCm39) |
G72D |
probably damaging |
Het |
Slco6d1 |
A |
G |
1: 98,427,588 (GRCm39) |
T640A |
probably benign |
Het |
Sspo |
A |
T |
6: 48,439,125 (GRCm39) |
E1591V |
possibly damaging |
Het |
Tbata |
C |
A |
10: 61,011,644 (GRCm39) |
T60K |
possibly damaging |
Het |
Tbc1d2 |
T |
A |
4: 46,637,692 (GRCm39) |
T185S |
possibly damaging |
Het |
Tlcd4 |
T |
A |
3: 121,028,708 (GRCm39) |
I60F |
possibly damaging |
Het |
Tmem87a |
A |
G |
2: 120,234,502 (GRCm39) |
S14P |
possibly damaging |
Het |
Tnnt2 |
C |
A |
1: 135,778,292 (GRCm39) |
|
probably null |
Het |
Trex1 |
A |
G |
9: 108,887,709 (GRCm39) |
V94A |
probably benign |
Het |
Ubtfl1 |
A |
C |
9: 18,320,592 (GRCm39) |
D40A |
possibly damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,309,935 (GRCm39) |
Y296N |
probably benign |
Het |
Zfp521 |
T |
A |
18: 13,977,684 (GRCm39) |
N910Y |
probably damaging |
Het |
Zfp53 |
A |
G |
17: 21,728,975 (GRCm39) |
E336G |
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 |
|
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 |
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'- GATCAATGGCAGAGTCTGGAC -3'
(R):5'- AGCTCAGGCAGTAAAGTCCCTC -3'
Sequencing Primer
(F):5'- AATGGCAGAGTCTGGACAGTCTTC -3'
(R):5'- AGGCAGTAAAGTCCCTCTGTCTTG -3'
|
Posted On |
2018-03-15 |