Incidental Mutation 'R6585:Nprl3'
| ID |
524355 |
| 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 |
044709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R6585 (G1)
|
| Quality Score |
212.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
32181963-32217707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32184812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 399
(R399Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020528]
[ENSMUST00000020530]
[ENSMUST00000109389]
[ENSMUST00000124640]
[ENSMUST00000136903]
[ENSMUST00000137950]
[ENSMUST00000141859]
[ENSMUST00000142964]
[ENSMUST00000138050]
|
| 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 benign
Transcript: ENSMUST00000020530
AA Change: R424Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020530
Gene: ENSMUSG00000020289
AA Change: R424Q
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DSPc
|
1 |
77 |
3e-27 |
BLAST |
|
Pfam:NPR3
|
104 |
418 |
1.8e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109389
AA Change: R399Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105016
Gene: ENSMUSG00000020289
AA Change: R399Q
| 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 |
probably benign
Transcript: ENSMUST00000136903
|
| 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000146890
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000148636
|
| Meta Mutation Damage Score |
0.0735 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (30/31) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,885,534 (GRCm39) |
C108Y |
probably damaging |
Het |
| Adam1b |
G |
T |
5: 121,639,250 (GRCm39) |
D598E |
probably benign |
Het |
| Agr2 |
G |
A |
12: 36,045,625 (GRCm39) |
R37Q |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,718,273 (GRCm39) |
K1989E |
probably benign |
Het |
| Chd1l |
A |
G |
3: 97,505,088 (GRCm39) |
F160L |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,329,609 (GRCm39) |
V628E |
probably benign |
Het |
| Defa38 |
A |
G |
8: 21,585,248 (GRCm39) |
C65R |
possibly damaging |
Het |
| Dis3l2 |
T |
A |
1: 86,673,216 (GRCm39) |
I69N |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Elp2 |
T |
C |
18: 24,758,606 (GRCm39) |
L503S |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,813,404 (GRCm39) |
Q2313L |
possibly damaging |
Het |
| Gpr155 |
A |
T |
2: 73,179,989 (GRCm39) |
I157N |
probably damaging |
Het |
| H2bc18 |
A |
T |
3: 96,177,413 (GRCm39) |
T116S |
probably benign |
Het |
| Kcnj1 |
T |
C |
9: 32,308,557 (GRCm39) |
V307A |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,552,314 (GRCm39) |
|
probably null |
Het |
| Lrp6 |
A |
T |
6: 134,484,521 (GRCm39) |
Y367* |
probably null |
Het |
| Ms4a14 |
T |
A |
19: 11,281,009 (GRCm39) |
Q516H |
unknown |
Het |
| Or13c3 |
A |
T |
4: 52,856,192 (GRCm39) |
M107K |
possibly damaging |
Het |
| Or5ae1 |
A |
T |
7: 84,565,670 (GRCm39) |
I228F |
probably damaging |
Het |
| Park7 |
G |
T |
4: 150,989,721 (GRCm39) |
Q80K |
probably benign |
Het |
| Pramel15 |
C |
A |
4: 144,103,600 (GRCm39) |
L175F |
possibly damaging |
Het |
| Pramel52-ps |
C |
T |
5: 94,529,415 (GRCm39) |
P62S |
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,979,738 (GRCm39) |
V281A |
possibly damaging |
Het |
| Rprd1a |
T |
C |
18: 24,639,720 (GRCm39) |
|
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,579,420 (GRCm39) |
E73G |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,006,251 (GRCm39) |
W138R |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,354,124 (GRCm39) |
E838G |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,376,926 (GRCm39) |
L1165F |
probably damaging |
Het |
| Zfp27 |
G |
A |
7: 29,595,818 (GRCm39) |
T49I |
possibly 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 |
|
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 |
|
|
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'- TCCAACAGTACCCAGGCTTC -3'
(R):5'- CTTCCCGTTTAGGTACTGGG -3'
Sequencing Primer
(F):5'- AACAGTACCCAGGCTTCTTGGATG -3'
(R):5'- TCCCCAGGAATAGGAATCTGTTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation