Incidental Mutation 'R2884:Nprl3'
ID |
260975 |
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 |
040472-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.224)
|
Stock # |
R2884 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
32181963-32217707 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32198163 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 179
(L179P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020530]
[ENSMUST00000109389]
[ENSMUST00000124640]
[ENSMUST00000129010]
[ENSMUST00000136903]
[ENSMUST00000141859]
[ENSMUST00000149526]
[ENSMUST00000137950]
|
AlphaFold |
Q8VIJ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020530
AA Change: L204P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020530 Gene: ENSMUSG00000020289 AA Change: L204P
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: L179P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105016 Gene: ENSMUSG00000020289 AA Change: L179P
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 |
noncoding transcript
Transcript: ENSMUST00000123411
|
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: ENSMUST00000127657
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129010
|
SMART Domains |
Protein: ENSMUSP00000123219 Gene: ENSMUSG00000020289
Domain | Start | End | E-Value | Type |
Blast:DSPc
|
1 |
59 |
3e-29 |
BLAST |
Pfam:NPR3
|
76 |
131 |
3e-16 |
PFAM |
Pfam:NPR3
|
114 |
182 |
3.7e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146890
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136903
|
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: ENSMUST00000149526
|
SMART Domains |
Protein: ENSMUSP00000122231 Gene: ENSMUSG00000020289
Domain | Start | End | E-Value | Type |
Pfam:NPR3
|
8 |
72 |
2.7e-14 |
PFAM |
|
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430548M08Rik |
G |
T |
8: 120,872,250 (GRCm39) |
E59D |
possibly damaging |
Het |
Arhgap27 |
T |
C |
11: 103,251,669 (GRCm39) |
|
probably null |
Het |
BC061237 |
A |
G |
14: 44,738,627 (GRCm39) |
R9G |
possibly damaging |
Het |
Brsk1 |
A |
G |
7: 4,694,122 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
G |
T |
13: 113,505,725 (GRCm39) |
A2285S |
probably benign |
Het |
Cspg4b |
A |
T |
13: 113,457,216 (GRCm39) |
Q1087H |
probably damaging |
Het |
Dnajb5 |
A |
T |
4: 42,957,355 (GRCm39) |
D284V |
probably damaging |
Het |
Dnmt3a |
A |
G |
12: 3,946,132 (GRCm39) |
D329G |
probably damaging |
Het |
Ecd |
C |
T |
14: 20,370,841 (GRCm39) |
G626D |
probably damaging |
Het |
Exoc3l4 |
A |
G |
12: 111,394,956 (GRCm39) |
D551G |
possibly damaging |
Het |
Fam227b |
A |
T |
2: 125,942,846 (GRCm39) |
I317N |
probably benign |
Het |
Fam3c |
G |
A |
6: 22,329,581 (GRCm39) |
R49C |
probably damaging |
Het |
Fcrl5 |
A |
G |
3: 87,364,698 (GRCm39) |
Y566C |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,848,127 (GRCm39) |
N1779S |
probably benign |
Het |
Gm19965 |
T |
A |
1: 116,749,313 (GRCm39) |
N331K |
probably benign |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
H2ac8 |
A |
G |
13: 23,755,047 (GRCm39) |
I79T |
probably damaging |
Het |
H2-DMa |
A |
G |
17: 34,356,121 (GRCm39) |
N41S |
probably damaging |
Het |
Habp4 |
A |
T |
13: 64,330,080 (GRCm39) |
R328S |
probably benign |
Het |
Hexb |
C |
T |
13: 97,320,208 (GRCm39) |
G272D |
probably damaging |
Het |
Lilrb4a |
A |
T |
10: 51,367,709 (GRCm39) |
N84Y |
probably benign |
Het |
Mtnr1a |
A |
G |
8: 45,540,305 (GRCm39) |
T89A |
probably benign |
Het |
Myh13 |
T |
A |
11: 67,228,469 (GRCm39) |
N336K |
probably benign |
Het |
Naca |
T |
C |
10: 127,877,547 (GRCm39) |
|
probably benign |
Het |
Naif1 |
C |
T |
2: 32,344,887 (GRCm39) |
P197L |
probably benign |
Het |
Nup93 |
A |
G |
8: 95,030,266 (GRCm39) |
Y375C |
probably damaging |
Het |
Or52b4 |
A |
G |
7: 102,184,439 (GRCm39) |
I162V |
probably benign |
Het |
Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
Plekhs1 |
G |
A |
19: 56,459,258 (GRCm39) |
G39R |
probably benign |
Het |
Ppp4r3a |
T |
C |
12: 101,034,936 (GRCm39) |
E53G |
probably damaging |
Het |
Prss48 |
A |
T |
3: 85,904,562 (GRCm39) |
M212K |
probably benign |
Het |
Pth |
A |
T |
7: 112,985,235 (GRCm39) |
L46Q |
probably damaging |
Het |
Rin2 |
A |
T |
2: 145,702,911 (GRCm39) |
T536S |
probably benign |
Het |
Setx |
T |
G |
2: 29,038,637 (GRCm39) |
C1707W |
probably damaging |
Het |
Stau2 |
A |
T |
1: 16,301,290 (GRCm39) |
F519Y |
possibly damaging |
Het |
Syne2 |
T |
G |
12: 76,010,533 (GRCm39) |
V2481G |
probably benign |
Het |
Tpte |
C |
T |
8: 22,825,439 (GRCm39) |
Q331* |
probably null |
Het |
Ttn |
G |
T |
2: 76,730,596 (GRCm39) |
|
probably benign |
Het |
Utrn |
A |
T |
10: 12,615,105 (GRCm39) |
|
probably null |
Het |
Vmn2r82 |
A |
G |
10: 79,232,082 (GRCm39) |
I694V |
probably benign |
Het |
Vmn2r88 |
G |
A |
14: 51,651,391 (GRCm39) |
C235Y |
probably damaging |
Het |
Xrn2 |
T |
A |
2: 146,889,576 (GRCm39) |
V653E |
probably damaging |
Het |
Znrf3 |
A |
T |
11: 5,239,693 (GRCm39) |
D58E |
probably damaging |
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 |
R3713:Nprl3
|
UTSW |
11 |
32,205,464 (GRCm39) |
missense |
probably damaging |
0.98 |
R3836:Nprl3
|
UTSW |
11 |
32,183,082 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GGTTTCCTGAAAAGTGGCCAC -3'
(R):5'- GATGATGACAAGGGATTTTCTGATG -3'
Sequencing Primer
(F):5'- GTGGCCACACAAGTGTCC -3'
(R):5'- CTTGCTTTGGAAGTTGTAAATC -3'
|
Posted On |
2015-01-23 |