Incidental Mutation 'R3836:Nprl3'
ID |
275658 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nprl3
|
Ensembl Gene |
ENSMUSG00000020289 |
Gene Name |
nitrogen permease regulator-like 3 |
Synonyms |
Mare, HS-26, Prox1, Phg, -14 gene, HS-40, m(alpha)RE |
MMRRC Submission |
040891-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.224)
|
Stock # |
R3836 (G1)
|
Quality Score |
143 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
32181963-32217707 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 32183082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 502
(E502K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020528]
[ENSMUST00000020530]
[ENSMUST00000109389]
[ENSMUST00000124640]
[ENSMUST00000142964]
[ENSMUST00000137950]
[ENSMUST00000138050]
[ENSMUST00000141859]
[ENSMUST00000136903]
|
AlphaFold |
Q8VIJ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020528
|
SMART Domains |
Protein: ENSMUSP00000020528 Gene: ENSMUSG00000020287
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
Pfam:Pur_DNA_glyco
|
109 |
304 |
1.2e-61 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020530
AA Change: E527K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020530 Gene: ENSMUSG00000020289 AA Change: E527K
Domain | Start | End | E-Value | Type |
Blast:DSPc
|
1 |
77 |
3e-27 |
BLAST |
Pfam:NPR3
|
104 |
418 |
1.8e-44 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109389
AA Change: E502K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105016 Gene: ENSMUSG00000020289 AA Change: E502K
Domain | Start | End | E-Value | Type |
Pfam:NPR3
|
63 |
108 |
8.3e-15 |
PFAM |
Pfam:NPR3
|
104 |
395 |
3.1e-80 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109390
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124640
|
SMART Domains |
Protein: ENSMUSP00000122085 Gene: ENSMUSG00000020289
Domain | Start | End | E-Value | Type |
Blast:DSPc
|
1 |
68 |
2e-30 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125256
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129573
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148636
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144903
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142964
|
SMART Domains |
Protein: ENSMUSP00000118208 Gene: ENSMUSG00000020287
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
SCOP:d1ewna_
|
102 |
125 |
5e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137950
|
SMART Domains |
Protein: ENSMUSP00000115594 Gene: ENSMUSG00000020289
Domain | Start | End | E-Value | Type |
Blast:DSPc
|
1 |
68 |
2e-30 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138050
|
SMART Domains |
Protein: ENSMUSP00000121960 Gene: ENSMUSG00000020287
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
SCOP:d1ewna_
|
102 |
125 |
5e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141859
|
SMART Domains |
Protein: ENSMUSP00000120341 Gene: ENSMUSG00000020289
Domain | Start | End | E-Value | Type |
Blast:DSPc
|
1 |
59 |
2e-30 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136903
|
Meta Mutation Damage Score |
0.7734 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (61/61) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of the encoded protein is not known. [provided by RefSeq, Aug 2011] PHENOTYPE: This gene is deleted in the Hbath-J mutation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028I16Rik |
A |
G |
10: 82,648,219 (GRCm39) |
|
noncoding transcript |
Het |
Aasdh |
A |
G |
5: 77,026,315 (GRCm39) |
V903A |
probably benign |
Het |
Afg2a |
T |
A |
3: 37,487,792 (GRCm39) |
Y428N |
possibly damaging |
Het |
Ankrd6 |
T |
A |
4: 32,817,531 (GRCm39) |
D271V |
probably damaging |
Het |
Ano10 |
C |
T |
9: 122,092,829 (GRCm39) |
V167M |
possibly damaging |
Het |
Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
AW551984 |
T |
C |
9: 39,509,204 (GRCm39) |
|
probably benign |
Het |
Bub1 |
G |
T |
2: 127,656,806 (GRCm39) |
P442Q |
probably damaging |
Het |
Clstn1 |
A |
G |
4: 149,722,790 (GRCm39) |
E476G |
probably damaging |
Het |
Comp |
A |
G |
8: 70,826,509 (GRCm39) |
D28G |
probably benign |
Het |
Crym |
A |
G |
7: 119,800,439 (GRCm39) |
V61A |
probably benign |
Het |
Dock4 |
G |
T |
12: 40,844,623 (GRCm39) |
|
probably null |
Het |
Dtna |
A |
T |
18: 23,758,159 (GRCm39) |
Q488L |
probably damaging |
Het |
Ecel1 |
A |
C |
1: 87,078,378 (GRCm39) |
L565R |
probably damaging |
Het |
Extl2 |
T |
C |
3: 115,818,006 (GRCm39) |
I106T |
probably benign |
Het |
Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
Fnbp4 |
A |
G |
2: 90,577,129 (GRCm39) |
T154A |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,781,290 (GRCm39) |
L32P |
probably damaging |
Het |
Gldc |
T |
A |
19: 30,096,075 (GRCm39) |
|
probably benign |
Het |
Gm12695 |
T |
G |
4: 96,650,334 (GRCm39) |
T171P |
probably damaging |
Het |
Gm4868 |
A |
C |
5: 125,925,014 (GRCm39) |
|
noncoding transcript |
Het |
Gpam |
T |
C |
19: 55,068,890 (GRCm39) |
N450S |
probably benign |
Het |
Gstm5 |
T |
C |
3: 107,803,678 (GRCm39) |
I37T |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Itga11 |
G |
T |
9: 62,676,565 (GRCm39) |
V918L |
probably benign |
Het |
Itgb2l |
T |
A |
16: 96,227,367 (GRCm39) |
M559L |
probably benign |
Het |
Itih1 |
T |
A |
14: 30,657,785 (GRCm39) |
N429Y |
probably damaging |
Het |
Madd |
A |
T |
2: 90,984,988 (GRCm39) |
|
probably null |
Het |
Map3k11 |
A |
G |
19: 5,740,831 (GRCm39) |
E186G |
possibly damaging |
Het |
Mbl2 |
T |
C |
19: 30,216,914 (GRCm39) |
F242S |
probably damaging |
Het |
Mcph1 |
A |
G |
8: 18,672,675 (GRCm39) |
T102A |
possibly damaging |
Het |
Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
Mkln1 |
A |
G |
6: 31,445,271 (GRCm39) |
D389G |
probably damaging |
Het |
Mmrn1 |
G |
A |
6: 60,921,831 (GRCm39) |
S96N |
probably benign |
Het |
Myd88 |
A |
G |
9: 119,167,259 (GRCm39) |
|
probably benign |
Het |
Nap1l1 |
T |
A |
10: 111,331,183 (GRCm39) |
|
probably null |
Het |
Nudt5 |
T |
A |
2: 5,871,158 (GRCm39) |
|
probably null |
Het |
Or52b2 |
G |
A |
7: 104,986,417 (GRCm39) |
P169S |
probably benign |
Het |
Or5h23 |
A |
G |
16: 58,906,586 (GRCm39) |
S87P |
possibly damaging |
Het |
Or6c69b |
C |
T |
10: 129,627,039 (GRCm39) |
V140M |
probably benign |
Het |
Or8j3 |
A |
G |
2: 86,029,006 (GRCm39) |
V30A |
probably benign |
Het |
Plaa |
T |
C |
4: 94,475,159 (GRCm39) |
|
probably null |
Het |
Ptk2b |
A |
G |
14: 66,393,791 (GRCm39) |
L894P |
probably damaging |
Het |
Rab8b |
A |
G |
9: 66,755,078 (GRCm39) |
S183P |
probably benign |
Het |
Reln |
A |
G |
5: 22,116,012 (GRCm39) |
Y2999H |
probably damaging |
Het |
Rims4 |
A |
G |
2: 163,760,573 (GRCm39) |
S11P |
possibly damaging |
Het |
Scel |
A |
G |
14: 103,829,822 (GRCm39) |
K448R |
possibly damaging |
Het |
Serpinb10 |
A |
T |
1: 107,463,816 (GRCm39) |
T33S |
probably benign |
Het |
Sgip1 |
A |
G |
4: 102,724,897 (GRCm39) |
|
probably null |
Het |
Sv2b |
A |
T |
7: 74,807,176 (GRCm39) |
M158K |
probably damaging |
Het |
Tmem132d |
A |
T |
5: 127,861,949 (GRCm39) |
I724N |
probably damaging |
Het |
Tnrc6c |
A |
G |
11: 117,614,055 (GRCm39) |
T738A |
probably benign |
Het |
Tpbg |
T |
C |
9: 85,725,167 (GRCm39) |
|
probably benign |
Het |
Tubb2a |
G |
T |
13: 34,259,294 (GRCm39) |
N165K |
probably benign |
Het |
Ubtfl1 |
A |
T |
9: 18,320,533 (GRCm39) |
E20D |
possibly damaging |
Het |
Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
Vmn2r25 |
C |
A |
6: 123,830,044 (GRCm39) |
D36Y |
probably damaging |
Het |
Wdhd1 |
A |
G |
14: 47,482,511 (GRCm39) |
V946A |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,927,004 (GRCm39) |
E1265G |
probably damaging |
Het |
Zmynd8 |
G |
A |
2: 165,700,019 (GRCm39) |
T14I |
probably benign |
Het |
|
Other mutations in Nprl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02410:Nprl3
|
APN |
11 |
32,217,539 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
IGL03055:Nprl3
|
APN |
11 |
32,198,230 (GRCm39) |
intron |
probably benign |
|
IGL03366:Nprl3
|
APN |
11 |
32,200,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R0114:Nprl3
|
UTSW |
11 |
32,189,784 (GRCm39) |
unclassified |
probably benign |
|
R0555:Nprl3
|
UTSW |
11 |
32,183,118 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0620:Nprl3
|
UTSW |
11 |
32,184,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R2008:Nprl3
|
UTSW |
11 |
32,182,973 (GRCm39) |
missense |
probably damaging |
0.97 |
R2172:Nprl3
|
UTSW |
11 |
32,184,894 (GRCm39) |
missense |
probably benign |
0.00 |
R2884:Nprl3
|
UTSW |
11 |
32,198,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R3713:Nprl3
|
UTSW |
11 |
32,205,464 (GRCm39) |
missense |
probably damaging |
0.98 |
R4354:Nprl3
|
UTSW |
11 |
32,184,906 (GRCm39) |
missense |
probably benign |
0.00 |
R6052:Nprl3
|
UTSW |
11 |
32,205,453 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6056:Nprl3
|
UTSW |
11 |
32,217,432 (GRCm39) |
missense |
probably damaging |
0.98 |
R6307:Nprl3
|
UTSW |
11 |
32,189,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R6553:Nprl3
|
UTSW |
11 |
32,184,812 (GRCm39) |
missense |
probably benign |
|
R6585:Nprl3
|
UTSW |
11 |
32,184,812 (GRCm39) |
missense |
probably benign |
|
R6774:Nprl3
|
UTSW |
11 |
32,187,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R6806:Nprl3
|
UTSW |
11 |
32,217,509 (GRCm39) |
missense |
probably damaging |
0.99 |
R7746:Nprl3
|
UTSW |
11 |
32,198,150 (GRCm39) |
nonsense |
probably null |
|
R7980:Nprl3
|
UTSW |
11 |
32,187,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R8483:Nprl3
|
UTSW |
11 |
32,213,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R8712:Nprl3
|
UTSW |
11 |
32,187,334 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8827:Nprl3
|
UTSW |
11 |
32,184,742 (GRCm39) |
missense |
probably benign |
0.00 |
R9264:Nprl3
|
UTSW |
11 |
32,183,948 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGAAGGGAGGTTGTTTCCATC -3'
(R):5'- GCTCTGTGGACTCTTTAGGC -3'
Sequencing Primer
(F):5'- AGGGAGGTTGTTTCCATCCACAC -3'
(R):5'- TCCACCATCTGTCACTGGGG -3'
|
Posted On |
2015-04-06 |