Incidental Mutation 'R7950:Napsa'
| ID |
649503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Napsa
|
| Ensembl Gene |
ENSMUSG00000002204 |
| Gene Name |
napsin A aspartic peptidase |
| Synonyms |
Kdap, napsin, NAP1, pronapsin |
| MMRRC Submission |
045995-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R7950 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44221869-44236270 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44234758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 298
(I298V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002274]
[ENSMUST00000208514]
|
| AlphaFold |
O09043 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002274
AA Change: I298V
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000002274
Gene: ENSMUSG00000002204
AA Change: I298V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Asp
|
72 |
396 |
6.6e-109 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208514
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
G |
A |
17: 43,762,048 (GRCm39) |
V1248M |
probably damaging |
Het |
| Alb |
T |
C |
5: 90,620,323 (GRCm39) |
S478P |
probably damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,886,039 (GRCm39) |
S698P |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,859 (GRCm39) |
T537A |
possibly damaging |
Het |
| Arl6 |
A |
T |
16: 59,439,094 (GRCm39) |
|
probably null |
Het |
| Atp13a4 |
A |
T |
16: 29,268,735 (GRCm39) |
W540R |
|
Het |
| Birc6 |
A |
T |
17: 74,900,095 (GRCm39) |
D1091V |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,623,250 (GRCm39) |
V659A |
probably benign |
Het |
| C130074G19Rik |
T |
C |
1: 184,606,571 (GRCm39) |
|
probably null |
Het |
| C1ql4 |
T |
A |
15: 98,982,693 (GRCm39) |
H220L |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,028,363 (GRCm39) |
N1147S |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,852,638 (GRCm39) |
|
probably null |
Het |
| Ccl1 |
T |
A |
11: 82,070,519 (GRCm39) |
I18L |
probably benign |
Het |
| Cfap410 |
C |
T |
10: 77,815,601 (GRCm39) |
T31I |
probably damaging |
Het |
| Ecel1 |
A |
T |
1: 87,075,991 (GRCm39) |
Y729N |
probably damaging |
Het |
| Epha4 |
T |
A |
1: 77,483,833 (GRCm39) |
I59F |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,390,074 (GRCm39) |
K221E |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,456,381 (GRCm39) |
E2193G |
possibly damaging |
Het |
| Galnt10 |
C |
G |
11: 57,674,549 (GRCm39) |
P513A |
probably damaging |
Het |
| Gm5624 |
A |
G |
14: 44,798,190 (GRCm39) |
Y139H |
|
Het |
| Golgb1 |
A |
C |
16: 36,735,786 (GRCm39) |
I1719L |
probably benign |
Het |
| Hsf1 |
T |
C |
15: 76,382,393 (GRCm39) |
S255P |
probably benign |
Het |
| Ighv2-2 |
T |
C |
12: 113,551,914 (GRCm39) |
D108G |
probably damaging |
Het |
| Iho1 |
T |
C |
9: 108,282,870 (GRCm39) |
T273A |
probably benign |
Het |
| Kbtbd3 |
C |
T |
9: 4,316,878 (GRCm39) |
Q10* |
probably null |
Het |
| Kcnh2 |
C |
T |
5: 24,538,034 (GRCm39) |
V110M |
probably benign |
Het |
| Magi3 |
A |
C |
3: 103,924,005 (GRCm39) |
L1112W |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 16,132,879 (GRCm39) |
D1933E |
unknown |
Het |
| Mki67 |
G |
A |
7: 135,301,453 (GRCm39) |
R1194* |
probably null |
Het |
| Nap1l1 |
T |
C |
10: 111,328,769 (GRCm39) |
Y233H |
probably damaging |
Het |
| Nkx6-1 |
A |
T |
5: 101,811,465 (GRCm39) |
S212R |
probably damaging |
Het |
| Nlrc4 |
A |
T |
17: 74,752,610 (GRCm39) |
I591N |
probably damaging |
Het |
| Or5b114-ps1 |
T |
C |
19: 13,352,431 (GRCm39) |
I35T |
possibly damaging |
Het |
| Orc2 |
T |
C |
1: 58,506,827 (GRCm39) |
D503G |
possibly damaging |
Het |
| Osbp |
T |
A |
19: 11,955,612 (GRCm39) |
S343T |
probably benign |
Het |
| Pcdha6 |
T |
G |
18: 37,102,479 (GRCm39) |
D557E |
probably damaging |
Het |
| Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
| Ppdpf |
A |
G |
2: 180,829,650 (GRCm39) |
Y35C |
probably benign |
Het |
| Scrn2 |
T |
A |
11: 96,921,755 (GRCm39) |
L75Q |
probably damaging |
Het |
| Scube3 |
G |
A |
17: 28,390,200 (GRCm39) |
V955I |
probably benign |
Het |
| Slc1a1 |
T |
C |
19: 28,889,161 (GRCm39) |
V478A |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,206,137 (GRCm39) |
|
probably null |
Het |
| Srrm2 |
T |
C |
17: 24,027,084 (GRCm39) |
L96P |
unknown |
Het |
| Strn |
A |
T |
17: 78,977,852 (GRCm39) |
L175Q |
|
Het |
|
| Other mutations in Napsa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00708:Napsa
|
APN |
7 |
44,230,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01380:Napsa
|
APN |
7 |
44,236,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01521:Napsa
|
APN |
7 |
44,236,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01630:Napsa
|
APN |
7 |
44,236,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Napsa
|
APN |
7 |
44,231,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01935:Napsa
|
APN |
7 |
44,236,046 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02421:Napsa
|
APN |
7 |
44,234,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02831:Napsa
|
APN |
7 |
44,236,184 (GRCm39) |
missense |
probably benign |
|
|
IGL03008:Napsa
|
APN |
7 |
44,235,220 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
PIT4131001:Napsa
|
UTSW |
7 |
44,230,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0422:Napsa
|
UTSW |
7 |
44,234,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1542:Napsa
|
UTSW |
7 |
44,231,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1564:Napsa
|
UTSW |
7 |
44,236,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Napsa
|
UTSW |
7 |
44,231,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:Napsa
|
UTSW |
7 |
44,231,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2366:Napsa
|
UTSW |
7 |
44,231,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Napsa
|
UTSW |
7 |
44,230,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5441:Napsa
|
UTSW |
7 |
44,230,817 (GRCm39) |
unclassified |
probably benign |
|
|
R5512:Napsa
|
UTSW |
7 |
44,222,040 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R5682:Napsa
|
UTSW |
7 |
44,234,768 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6290:Napsa
|
UTSW |
7 |
44,230,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7046:Napsa
|
UTSW |
7 |
44,234,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7134:Napsa
|
UTSW |
7 |
44,235,159 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7677:Napsa
|
UTSW |
7 |
44,231,130 (GRCm39) |
nonsense |
probably null |
|
|
R7983:Napsa
|
UTSW |
7 |
44,234,751 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9068:Napsa
|
UTSW |
7 |
44,235,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Napsa
|
UTSW |
7 |
44,231,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGGGATTCTGAAGGGTC -3'
(R):5'- CACCTGGAAAGCATGTTGGC -3'
Sequencing Primer
(F):5'- TACTGGCAGGTCCACATGGAG -3'
(R):5'- AGCATGTTGGCTTCCTCCTACTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation