Incidental Mutation 'R6806:Nprl3'
| ID |
537492 |
| 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 |
044919-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R6806 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
32181963-32217707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32217509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 11
(I11T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020530]
[ENSMUST00000109389]
[ENSMUST00000124640]
[ENSMUST00000129010]
[ENSMUST00000136903]
[ENSMUST00000137950]
[ENSMUST00000141859]
[ENSMUST00000149526]
|
| AlphaFold |
Q8VIJ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020530
AA Change: I11T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020530
Gene: ENSMUSG00000020289
AA Change: I11T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DSPc
|
1 |
77 |
3e-27 |
BLAST |
|
Pfam:NPR3
|
104 |
418 |
1.8e-44 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109389
AA Change: I11T
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105016
Gene: ENSMUSG00000020289
AA Change: I11T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPR3
|
63 |
108 |
8.3e-15 |
PFAM |
|
Pfam:NPR3
|
104 |
395 |
3.1e-80 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124640
AA Change: I11T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122085
Gene: ENSMUSG00000020289
AA Change: I11T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DSPc
|
1 |
68 |
2e-30 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129010
AA Change: I11T
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123219
Gene: ENSMUSG00000020289
AA Change: I11T
| 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 |
possibly damaging
Transcript: ENSMUST00000136903
AA Change: I11T
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137950
AA Change: I11T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115594
Gene: ENSMUSG00000020289
AA Change: I11T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DSPc
|
1 |
68 |
2e-30 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141859
AA Change: I11T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120341
Gene: ENSMUSG00000020289
AA Change: I11T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DSPc
|
1 |
59 |
2e-30 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149526
AA Change: I11T
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000122231
Gene: ENSMUSG00000020289
AA Change: I11T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPR3
|
8 |
72 |
2.7e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
95% (39/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
A |
G |
7: 76,075,669 (GRCm39) |
Y437C |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,345,207 (GRCm39) |
D132E |
probably damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,288,098 (GRCm39) |
S258P |
probably damaging |
Het |
| Bach2 |
T |
A |
4: 32,575,301 (GRCm39) |
M509K |
possibly damaging |
Het |
| Ccdc186 |
T |
A |
19: 56,788,561 (GRCm39) |
K549N |
probably damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,094 (GRCm39) |
R238H |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 99,868,374 (GRCm39) |
C30Y |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,216,342 (GRCm39) |
Q520R |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,951,411 (GRCm39) |
|
probably null |
Het |
| Ebna1bp2 |
T |
C |
4: 118,478,174 (GRCm39) |
C16R |
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,751,826 (GRCm39) |
Y579H |
possibly damaging |
Het |
| Ifi206 |
C |
T |
1: 173,309,137 (GRCm39) |
M286I |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,492,908 (GRCm39) |
V2478I |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,511,950 (GRCm39) |
E6G |
unknown |
Het |
| Ltbp2 |
T |
C |
12: 84,856,012 (GRCm39) |
S744G |
possibly damaging |
Het |
| Magi3 |
T |
A |
3: 103,954,285 (GRCm39) |
N684I |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,449,206 (GRCm39) |
|
probably null |
Het |
| Nphp4 |
G |
T |
4: 152,622,558 (GRCm39) |
Q614H |
probably benign |
Het |
| Or51q1 |
G |
T |
7: 103,628,771 (GRCm39) |
R124L |
possibly damaging |
Het |
| Pank2 |
T |
C |
2: 131,104,627 (GRCm39) |
|
probably benign |
Het |
| Prss58 |
A |
T |
6: 40,874,666 (GRCm39) |
N58K |
probably damaging |
Het |
| Ptk7 |
C |
T |
17: 46,884,454 (GRCm39) |
V759M |
probably damaging |
Het |
| Rassf7 |
A |
G |
7: 140,796,722 (GRCm39) |
T28A |
probably damaging |
Het |
| Rbm45 |
C |
T |
2: 76,210,804 (GRCm39) |
T445I |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rsrc2 |
T |
G |
5: 123,877,594 (GRCm39) |
|
probably benign |
Het |
| Saxo2 |
A |
T |
7: 82,284,240 (GRCm39) |
I206N |
probably benign |
Het |
| Sh3d19 |
T |
A |
3: 86,011,640 (GRCm39) |
Y409N |
probably damaging |
Het |
| Spata31d1a |
A |
T |
13: 59,851,032 (GRCm39) |
N365K |
probably benign |
Het |
| Stkld1 |
C |
G |
2: 26,833,922 (GRCm39) |
N136K |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,461,166 (GRCm39) |
D904G |
possibly damaging |
Het |
| Tmf1 |
G |
A |
6: 97,138,408 (GRCm39) |
R837* |
probably null |
Het |
| Tnn |
T |
C |
1: 159,948,278 (GRCm39) |
T812A |
possibly damaging |
Het |
| Trgj4 |
T |
C |
13: 19,526,365 (GRCm39) |
L15P |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,059,147 (GRCm39) |
I905V |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,786,308 (GRCm39) |
|
probably benign |
Het |
| Zfp446 |
T |
C |
7: 12,713,043 (GRCm39) |
L27P |
probably damaging |
Het |
| Zfp719 |
A |
G |
7: 43,235,809 (GRCm39) |
D57G |
possibly damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,985,766 (GRCm39) |
|
probably benign |
Het |
| Zfp978 |
G |
A |
4: 147,475,284 (GRCm39) |
R277K |
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 |
|
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 |
|
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'- ATTTCATGGGCTGGAGACTCAG -3'
(R):5'- CTACTAGAGTGCAGCCAAGG -3'
Sequencing Primer
(F):5'- ACTCAGGAGTCGTGCCG -3'
(R):5'- GCAGTCGCCTGTCCGGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation