Incidental Mutation 'R9264:Nprl3'
| ID |
702437 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R9264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
32181963-32217707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32183948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 500
(N500K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020528]
[ENSMUST00000020530]
[ENSMUST00000109389]
[ENSMUST00000124640]
[ENSMUST00000136903]
[ENSMUST00000137950]
[ENSMUST00000138050]
[ENSMUST00000141859]
[ENSMUST00000142964]
|
| 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: N500K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020530
Gene: ENSMUSG00000020289
AA Change: N500K
| 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: N475K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105016
Gene: ENSMUSG00000020289
AA Change: N475K
| 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 benign
Transcript: ENSMUST00000124640
|
| SMART Domains |
Protein: ENSMUSP00000122085
Gene: ENSMUSG00000020289
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DSPc
|
1 |
68 |
2e-30 |
BLAST |
|
| 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
T |
7: 120,001,056 (GRCm39) |
I1531L |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,844,914 (GRCm39) |
Y791C |
probably benign |
Het |
| Ankrd40 |
T |
A |
11: 94,229,187 (GRCm39) |
I262N |
probably damaging |
Het |
| Catsperg2 |
A |
T |
7: 29,397,613 (GRCm39) |
N1033K |
possibly damaging |
Het |
| Cdh10 |
A |
T |
15: 18,964,081 (GRCm39) |
D81V |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,333,878 (GRCm39) |
V310A |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,951,830 (GRCm39) |
Y325C |
probably damaging |
Het |
| Clstn3 |
T |
A |
6: 124,436,727 (GRCm39) |
D197V |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 114,005,809 (GRCm39) |
I1647T |
unknown |
Het |
| Col5a1 |
G |
A |
2: 27,854,123 (GRCm39) |
R569K |
unknown |
Het |
| Cspg4b |
G |
A |
13: 113,456,014 (GRCm39) |
V687M |
|
Het |
| Cyp4a10 |
T |
C |
4: 115,381,475 (GRCm39) |
S180P |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,135,173 (GRCm39) |
I1336V |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,177,784 (GRCm39) |
V946M |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,813,900 (GRCm39) |
R347G |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,991,262 (GRCm39) |
D2368V |
probably damaging |
Het |
| Ganab |
T |
C |
19: 8,890,228 (GRCm39) |
I719T |
possibly damaging |
Het |
| Gm10944 |
C |
A |
10: 10,557,583 (GRCm39) |
A11D |
unknown |
Het |
| Gmcl1 |
T |
C |
6: 86,691,195 (GRCm39) |
M267V |
probably benign |
Het |
| Inhbe |
T |
A |
10: 127,186,427 (GRCm39) |
D251V |
probably damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,307,654 (GRCm39) |
R26Q |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,838,271 (GRCm39) |
|
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,494,912 (GRCm39) |
D251E |
probably damaging |
Het |
| Magel2 |
T |
A |
7: 62,028,344 (GRCm39) |
I416N |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,560,057 (GRCm39) |
N772S |
probably damaging |
Het |
| Ms4a20 |
T |
A |
19: 11,093,830 (GRCm39) |
M1L |
probably benign |
Het |
| Msh3 |
G |
T |
13: 92,485,812 (GRCm39) |
Q171K |
probably benign |
Het |
| Mslnl |
T |
G |
17: 25,961,506 (GRCm39) |
|
probably benign |
Het |
| Mtpn |
A |
G |
6: 35,489,176 (GRCm39) |
L116P |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,213,454 (GRCm39) |
T1351A |
probably benign |
Het |
| Nectin3 |
A |
T |
16: 46,274,998 (GRCm39) |
I353N |
probably damaging |
Het |
| Nup93 |
T |
A |
8: 95,019,348 (GRCm39) |
I181N |
probably benign |
Het |
| Optc |
T |
C |
1: 133,832,978 (GRCm39) |
I41V |
probably benign |
Het |
| Or1b1 |
G |
A |
2: 36,994,801 (GRCm39) |
T287I |
probably damaging |
Het |
| Or4p23 |
T |
C |
2: 88,576,776 (GRCm39) |
H152R |
probably damaging |
Het |
| Pcdh7 |
C |
A |
5: 58,286,663 (GRCm39) |
N1246K |
probably benign |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,166 (GRCm39) |
D377E |
probably benign |
Het |
| Pnpla6 |
C |
T |
8: 3,573,294 (GRCm39) |
P386L |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,520,899 (GRCm39) |
T587A |
probably benign |
Het |
| Pramel1 |
T |
G |
4: 143,125,099 (GRCm39) |
L341R |
probably damaging |
Het |
| Rhot2 |
A |
T |
17: 26,060,740 (GRCm39) |
N210K |
probably damaging |
Het |
| Slc37a1 |
A |
G |
17: 31,519,459 (GRCm39) |
I12V |
probably benign |
Het |
| Spmip7 |
T |
A |
11: 11,414,678 (GRCm39) |
D141E |
|
Het |
| Sstr3 |
G |
T |
15: 78,423,792 (GRCm39) |
N318K |
probably damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,142,955 (GRCm39) |
V511A |
probably benign |
Het |
| Stfa1 |
G |
A |
16: 36,100,930 (GRCm39) |
V57I |
unknown |
Het |
| Syne1 |
T |
G |
10: 5,212,793 (GRCm39) |
R3265S |
probably damaging |
Het |
| Tacc2 |
G |
T |
7: 130,228,533 (GRCm39) |
K1739N |
probably damaging |
Het |
| Tas2r143 |
A |
T |
6: 42,377,673 (GRCm39) |
M168L |
probably benign |
Het |
| Tm4sf1 |
A |
T |
3: 57,202,031 (GRCm39) |
|
probably null |
Het |
| Ttc16 |
A |
G |
2: 32,653,017 (GRCm39) |
I604T |
possibly damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,393 (GRCm39) |
W64R |
possibly damaging |
Het |
| Usp34 |
A |
T |
11: 23,439,064 (GRCm39) |
H3561L |
|
Het |
| Vasp |
C |
T |
7: 18,993,376 (GRCm39) |
V276I |
unknown |
Het |
| Vwa3a |
A |
G |
7: 120,374,687 (GRCm39) |
N333S |
probably benign |
Het |
| Wipf3 |
A |
G |
6: 54,460,866 (GRCm39) |
N105D |
probably benign |
Het |
| Zfp760 |
T |
C |
17: 21,942,663 (GRCm39) |
S613P |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGACTGAGTAAGCGCCC -3'
(R):5'- TGGAATCCAGCTGGCCTATC -3'
Sequencing Primer
(F):5'- TGACTGAGTAAGCGCCCACTAG -3'
(R):5'- TCCAGCTGGCCTATCCCAAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation