Incidental Mutation 'R2172:Nprl3'
| ID |
237573 |
| 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 |
040174-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R2172 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
32181963-32217707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32184894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 372
(M372L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020528]
[ENSMUST00000020530]
[ENSMUST00000109389]
[ENSMUST00000124640]
[ENSMUST00000141859]
[ENSMUST00000136903]
[ENSMUST00000137950]
[ENSMUST00000149526]
[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: M397L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020530
Gene: ENSMUSG00000020289
AA Change: M397L
| 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: M372L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105016
Gene: ENSMUSG00000020289
AA Change: M372L
| 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: ENSMUST00000146890
|
| 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
|
| 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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
T |
A |
18: 38,123,613 (GRCm39) |
E441V |
probably damaging |
Het |
| Arfip2 |
T |
A |
7: 105,287,195 (GRCm39) |
D64V |
probably damaging |
Het |
| Atg9a |
C |
A |
1: 75,162,329 (GRCm39) |
R527L |
probably damaging |
Het |
| Atp1a1 |
T |
G |
3: 101,497,864 (GRCm39) |
I308L |
probably benign |
Het |
| Bcan |
T |
A |
3: 87,903,888 (GRCm39) |
Y199F |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,191 (GRCm39) |
|
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,780,367 (GRCm39) |
L902H |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,163,672 (GRCm39) |
Y492C |
probably benign |
Het |
| Dnah9 |
G |
T |
11: 65,963,605 (GRCm39) |
H1783N |
probably damaging |
Het |
| Dpep2 |
A |
G |
8: 106,715,630 (GRCm39) |
V320A |
possibly damaging |
Het |
| Dsc2 |
A |
G |
18: 20,178,559 (GRCm39) |
Y282H |
probably damaging |
Het |
| Egfr |
C |
T |
11: 16,861,562 (GRCm39) |
P1114S |
probably benign |
Het |
| Fastkd1 |
A |
G |
2: 69,530,477 (GRCm39) |
S560P |
probably damaging |
Het |
| Gm14295 |
G |
A |
2: 176,502,895 (GRCm39) |
R795Q |
possibly damaging |
Het |
| Gpr155 |
C |
T |
2: 73,212,471 (GRCm39) |
V51I |
probably benign |
Het |
| Gsap |
G |
A |
5: 21,427,438 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
T |
A |
13: 14,552,291 (GRCm39) |
I103F |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,864,422 (GRCm39) |
N685K |
probably damaging |
Het |
| Hnrnph1 |
T |
A |
11: 50,273,643 (GRCm39) |
D244E |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,308,681 (GRCm39) |
E3989G |
probably benign |
Het |
| Ibsp |
T |
C |
5: 104,458,296 (GRCm39) |
Y278H |
probably damaging |
Het |
| Ift57 |
T |
G |
16: 49,579,703 (GRCm39) |
N291K |
probably benign |
Het |
| Il15ra |
A |
G |
2: 11,728,382 (GRCm39) |
T149A |
possibly damaging |
Het |
| Ints5 |
C |
T |
19: 8,873,646 (GRCm39) |
T535I |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,056,015 (GRCm39) |
L268P |
probably damaging |
Het |
| Klhdc7a |
T |
A |
4: 139,693,121 (GRCm39) |
T609S |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,509,965 (GRCm39) |
V429A |
probably benign |
Het |
| Lsm3 |
T |
C |
6: 91,499,254 (GRCm39) |
V87A |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Map1a |
G |
T |
2: 121,138,413 (GRCm39) |
V2726L |
probably damaging |
Het |
| Marveld3 |
A |
C |
8: 110,688,478 (GRCm39) |
S88A |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,424,670 (GRCm39) |
D640G |
probably damaging |
Het |
| Mettl4 |
A |
G |
17: 95,040,591 (GRCm39) |
I399T |
probably benign |
Het |
| Mmp27 |
T |
A |
9: 7,577,379 (GRCm39) |
L274* |
probably null |
Het |
| Nacc2 |
A |
C |
2: 25,950,235 (GRCm39) |
D500E |
probably benign |
Het |
| Or5p6 |
A |
T |
7: 107,630,674 (GRCm39) |
I292N |
probably damaging |
Het |
| Otud7b |
T |
G |
3: 96,060,837 (GRCm39) |
|
probably null |
Het |
| Pcx |
G |
A |
19: 4,670,909 (GRCm39) |
R1070H |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,426,855 (GRCm39) |
W1560* |
probably null |
Het |
| Puf60 |
A |
T |
15: 75,942,313 (GRCm39) |
I520N |
probably damaging |
Het |
| Qars1 |
C |
T |
9: 108,386,399 (GRCm39) |
R143C |
probably damaging |
Het |
| Rfx3 |
G |
A |
19: 27,792,894 (GRCm39) |
Q322* |
probably null |
Het |
| Samd14 |
G |
T |
11: 94,905,217 (GRCm39) |
V10L |
probably benign |
Het |
| Setd2 |
G |
A |
9: 110,378,912 (GRCm39) |
R909Q |
probably benign |
Het |
| Sh2d4a |
T |
C |
8: 68,749,316 (GRCm39) |
S117P |
probably benign |
Het |
| Sharpin |
C |
A |
15: 76,234,866 (GRCm39) |
|
probably benign |
Het |
| Skor1 |
C |
A |
9: 63,052,404 (GRCm39) |
A494S |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,119,638 (GRCm39) |
T375A |
probably benign |
Het |
| Sparc |
G |
A |
11: 55,286,627 (GRCm39) |
Q324* |
probably null |
Het |
| Spopfm2 |
T |
G |
3: 94,083,605 (GRCm39) |
K69Q |
possibly damaging |
Het |
| Srebf1 |
T |
C |
11: 60,097,328 (GRCm39) |
T171A |
probably benign |
Het |
| Srrd |
A |
G |
5: 112,488,988 (GRCm39) |
I54T |
possibly damaging |
Het |
| Tecpr1 |
G |
T |
5: 144,133,235 (GRCm39) |
Q1072K |
probably damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,148,274 (GRCm39) |
V377E |
probably benign |
Het |
| Tln1 |
T |
A |
4: 43,545,721 (GRCm39) |
H919L |
probably benign |
Het |
| Tm9sf3 |
C |
T |
19: 41,205,859 (GRCm39) |
S516N |
probably damaging |
Het |
| Trpa1 |
T |
A |
1: 14,951,880 (GRCm39) |
T940S |
probably benign |
Het |
| Trpv4 |
G |
A |
5: 114,782,771 (GRCm39) |
R64C |
probably damaging |
Het |
| Tufm |
A |
G |
7: 126,088,019 (GRCm39) |
E174G |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,757,841 (GRCm39) |
T1183A |
probably damaging |
Het |
| Virma |
A |
T |
4: 11,527,843 (GRCm39) |
M1245L |
possibly damaging |
Het |
| Vmn2r32 |
T |
C |
7: 7,477,614 (GRCm39) |
Y259C |
probably damaging |
Het |
| Zfp329 |
A |
G |
7: 12,544,694 (GRCm39) |
F277L |
probably damaging |
Het |
| Zfp683 |
C |
T |
4: 133,783,106 (GRCm39) |
T190I |
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 |
|
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 |
|
R9264:Nprl3
|
UTSW |
11 |
32,183,948 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCCTGGAAGGGGATCCTAC -3'
(R):5'- TTTCCCTGGGGTATGCTGAC -3'
Sequencing Primer
(F):5'- ATCCTACTTGGGGAGCCAAAGC -3'
(R):5'- GTATGCTGACCTTGCAGAGCTAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation