Incidental Mutation 'V5622:Naip2'
ID |
152526 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Naip2
|
Ensembl Gene |
ENSMUSG00000078945 |
Gene Name |
NLR family, apoptosis inhibitory protein 2 |
Synonyms |
Birc1b, Naip2, Naip-rs6 |
Accession Numbers |
|
Is this an essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
V5622 ()
of strain
521
|
Quality Score |
86 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
100144063-100202092 bp(-) (GRCm38) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
G to A
at 100155029 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125852
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067975]
[ENSMUST00000117913]
[ENSMUST00000167986]
|
AlphaFold |
Q9QUK4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067975
|
SMART Domains |
Protein: ENSMUSP00000070827 Gene: ENSMUSG00000078945
Domain | Start | End | E-Value | Type |
BIR
|
58 |
129 |
7.95e-18 |
SMART |
BIR
|
157 |
229 |
5.31e-37 |
SMART |
BIR
|
276 |
347 |
4.22e-31 |
SMART |
Pfam:NACHT
|
508 |
662 |
1.9e-36 |
PFAM |
low complexity region
|
954 |
964 |
N/A |
INTRINSIC |
low complexity region
|
1116 |
1126 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117913
|
SMART Domains |
Protein: ENSMUSP00000113890 Gene: ENSMUSG00000078945
Domain | Start | End | E-Value | Type |
BIR
|
58 |
129 |
7.95e-18 |
SMART |
BIR
|
157 |
229 |
5.31e-37 |
SMART |
BIR
|
276 |
347 |
4.22e-31 |
SMART |
Pfam:NACHT
|
508 |
662 |
1.9e-36 |
PFAM |
low complexity region
|
954 |
964 |
N/A |
INTRINSIC |
low complexity region
|
1116 |
1126 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167986
|
SMART Domains |
Protein: ENSMUSP00000125852 Gene: ENSMUSG00000078945
Domain | Start | End | E-Value | Type |
BIR
|
58 |
129 |
7.95e-18 |
SMART |
BIR
|
157 |
229 |
5.31e-37 |
SMART |
BIR
|
276 |
347 |
4.22e-31 |
SMART |
Pfam:NACHT
|
508 |
662 |
8.6e-35 |
PFAM |
low complexity region
|
954 |
964 |
N/A |
INTRINSIC |
low complexity region
|
1116 |
1126 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221573
|
Meta Mutation Damage Score |
0.0898  |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 98.4%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 8 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
C |
T |
4: 147,941,776 |
S251F |
probably benign |
Het |
Ccar2 |
G |
T |
14: 70,151,289 |
L158I |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 |
|
probably benign |
Homo |
Hspg2 |
C |
A |
4: 137,533,738 |
Q1648K |
probably damaging |
Het |
Hvcn1 |
TGAGGAGGAGGAGGAGGAG |
TGAGGAGGAGGAGGAG |
5: 122,233,539 |
|
probably benign |
Het |
Megf11 |
C |
A |
9: 64,690,069 |
C674* |
probably null |
Het |
Wdr17 |
C |
T |
8: 54,693,096 |
A90T |
possibly damaging |
Het |
Zbtb12 |
C |
A |
17: 34,896,301 |
A354E |
possibly damaging |
Het |
|
Other mutations in Naip2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00515:Naip2
|
APN |
13 |
100154887 |
missense |
probably benign |
0.00 |
IGL00676:Naip2
|
APN |
13 |
100152632 |
missense |
probably damaging |
1.00 |
IGL00870:Naip2
|
APN |
13 |
100152060 |
splice site |
probably benign |
|
IGL00908:Naip2
|
APN |
13 |
100160649 |
missense |
probably benign |
0.01 |
IGL00916:Naip2
|
APN |
13 |
100161431 |
missense |
probably damaging |
0.97 |
IGL00949:Naip2
|
APN |
13 |
100161591 |
missense |
probably damaging |
1.00 |
IGL01010:Naip2
|
APN |
13 |
100154938 |
missense |
probably damaging |
0.99 |
IGL01642:Naip2
|
APN |
13 |
100160937 |
missense |
probably damaging |
0.97 |
IGL01884:Naip2
|
APN |
13 |
100188821 |
splice site |
probably benign |
|
IGL01917:Naip2
|
APN |
13 |
100162083 |
missense |
probably benign |
0.00 |
IGL02015:Naip2
|
APN |
13 |
100161607 |
missense |
possibly damaging |
0.57 |
IGL02315:Naip2
|
APN |
13 |
100161236 |
missense |
probably damaging |
1.00 |
IGL02328:Naip2
|
APN |
13 |
100161369 |
missense |
probably damaging |
1.00 |
IGL02735:Naip2
|
APN |
13 |
100160214 |
missense |
probably damaging |
0.99 |
IGL02738:Naip2
|
APN |
13 |
100189177 |
missense |
probably benign |
0.01 |
IGL02887:Naip2
|
APN |
13 |
100161512 |
missense |
possibly damaging |
0.90 |
IGL02894:Naip2
|
APN |
13 |
100160997 |
missense |
probably damaging |
1.00 |
IGL02894:Naip2
|
APN |
13 |
100183789 |
missense |
probably benign |
|
IGL02974:Naip2
|
APN |
13 |
100161678 |
missense |
probably damaging |
1.00 |
IGL03024:Naip2
|
APN |
13 |
100189354 |
missense |
possibly damaging |
0.50 |
IGL03056:Naip2
|
APN |
13 |
100162287 |
missense |
possibly damaging |
0.90 |
IGL03281:Naip2
|
APN |
13 |
100161620 |
missense |
probably damaging |
0.99 |
R0131:Naip2
|
UTSW |
13 |
100183788 |
missense |
probably benign |
0.01 |
R0131:Naip2
|
UTSW |
13 |
100183788 |
missense |
probably benign |
0.01 |
R0132:Naip2
|
UTSW |
13 |
100183788 |
missense |
probably benign |
0.01 |
R0310:Naip2
|
UTSW |
13 |
100148842 |
missense |
probably damaging |
1.00 |
R0367:Naip2
|
UTSW |
13 |
100161782 |
missense |
probably benign |
0.01 |
R0368:Naip2
|
UTSW |
13 |
100161782 |
missense |
probably benign |
0.01 |
R0422:Naip2
|
UTSW |
13 |
100161113 |
missense |
probably benign |
0.10 |
R0441:Naip2
|
UTSW |
13 |
100161782 |
missense |
probably benign |
0.01 |
R0445:Naip2
|
UTSW |
13 |
100161887 |
missense |
possibly damaging |
0.91 |
R0446:Naip2
|
UTSW |
13 |
100161782 |
missense |
probably benign |
0.01 |
R0464:Naip2
|
UTSW |
13 |
100161782 |
missense |
probably benign |
0.01 |
R0466:Naip2
|
UTSW |
13 |
100161782 |
missense |
probably benign |
0.01 |
R0467:Naip2
|
UTSW |
13 |
100161782 |
missense |
probably benign |
0.01 |
R0486:Naip2
|
UTSW |
13 |
100161782 |
missense |
probably benign |
0.01 |
R0533:Naip2
|
UTSW |
13 |
100161782 |
missense |
probably benign |
0.01 |
R0853:Naip2
|
UTSW |
13 |
100161854 |
missense |
probably benign |
|
R0853:Naip2
|
UTSW |
13 |
100161860 |
missense |
probably benign |
0.00 |
R0855:Naip2
|
UTSW |
13 |
100161854 |
missense |
probably benign |
|
R0855:Naip2
|
UTSW |
13 |
100161860 |
missense |
probably benign |
0.00 |
R0904:Naip2
|
UTSW |
13 |
100161854 |
missense |
probably benign |
|
R0904:Naip2
|
UTSW |
13 |
100161860 |
missense |
probably benign |
0.00 |
R0906:Naip2
|
UTSW |
13 |
100161854 |
missense |
probably benign |
|
R0906:Naip2
|
UTSW |
13 |
100161860 |
missense |
probably benign |
0.00 |
R0908:Naip2
|
UTSW |
13 |
100161854 |
missense |
probably benign |
|
R0908:Naip2
|
UTSW |
13 |
100161860 |
missense |
probably benign |
0.00 |
R0959:Naip2
|
UTSW |
13 |
100154878 |
missense |
probably benign |
0.01 |
R0959:Naip2
|
UTSW |
13 |
100154911 |
missense |
probably benign |
0.03 |
R0962:Naip2
|
UTSW |
13 |
100179385 |
missense |
probably damaging |
1.00 |
R1024:Naip2
|
UTSW |
13 |
100161854 |
missense |
probably benign |
|
R1024:Naip2
|
UTSW |
13 |
100161860 |
missense |
probably benign |
0.00 |
R1186:Naip2
|
UTSW |
13 |
100161981 |
missense |
possibly damaging |
0.63 |
R1186:Naip2
|
UTSW |
13 |
100162037 |
frame shift |
probably null |
|
R1217:Naip2
|
UTSW |
13 |
100161854 |
missense |
probably benign |
|
R1217:Naip2
|
UTSW |
13 |
100161860 |
missense |
probably benign |
0.00 |
R1340:Naip2
|
UTSW |
13 |
100189122 |
missense |
possibly damaging |
0.80 |
R1342:Naip2
|
UTSW |
13 |
100161854 |
missense |
probably benign |
|
R1342:Naip2
|
UTSW |
13 |
100161860 |
missense |
probably benign |
0.00 |
R1404:Naip2
|
UTSW |
13 |
100161854 |
missense |
probably benign |
|
R1423:Naip2
|
UTSW |
13 |
100161860 |
missense |
probably benign |
0.00 |
R1423:Naip2
|
UTSW |
13 |
100154847 |
intron |
probably benign |
|
R1423:Naip2
|
UTSW |
13 |
100154872 |
missense |
possibly damaging |
0.59 |
R1423:Naip2
|
UTSW |
13 |
100154878 |
missense |
probably benign |
0.01 |
R1426:Naip2
|
UTSW |
13 |
100161854 |
missense |
probably benign |
|
R1426:Naip2
|
UTSW |
13 |
100161860 |
missense |
probably benign |
0.00 |
R1472:Naip2
|
UTSW |
13 |
100161860 |
missense |
probably benign |
0.00 |
R1575:Naip2
|
UTSW |
13 |
100155021 |
missense |
probably benign |
0.00 |
R1575:Naip2
|
UTSW |
13 |
100155029 |
intron |
probably benign |
|
R1576:Naip2
|
UTSW |
13 |
100155021 |
missense |
probably benign |
0.00 |
R1576:Naip2
|
UTSW |
13 |
100155029 |
intron |
probably benign |
|
R1599:Naip2
|
UTSW |
13 |
100161981 |
missense |
possibly damaging |
0.63 |
R1640:Naip2
|
UTSW |
13 |
100161981 |
missense |
possibly damaging |
0.63 |
R1641:Naip2
|
UTSW |
13 |
100161981 |
missense |
possibly damaging |
0.63 |
R1642:Naip2
|
UTSW |
13 |
100161981 |
missense |
possibly damaging |
0.63 |
R1643:Naip2
|
UTSW |
13 |
100161981 |
missense |
possibly damaging |
0.63 |
R1644:Naip2
|
UTSW |
13 |
100182929 |
missense |
possibly damaging |
0.83 |
R1681:Naip2
|
UTSW |
13 |
100161854 |
missense |
probably benign |
|
R1681:Naip2
|
UTSW |
13 |
100161860 |
missense |
probably benign |
0.00 |
R1891:Naip2
|
UTSW |
13 |
100154887 |
missense |
probably benign |
0.00 |
R1913:Naip2
|
UTSW |
13 |
100152157 |
critical splice acceptor site |
probably null |
|
R1937:Naip2
|
UTSW |
13 |
100161854 |
missense |
probably benign |
|
R1937:Naip2
|
UTSW |
13 |
100161860 |
missense |
probably benign |
0.00 |
R1993:Naip2
|
UTSW |
13 |
100162007 |
missense |
probably benign |
0.03 |
R2001:Naip2
|
UTSW |
13 |
100144588 |
missense |
probably damaging |
1.00 |
R2055:Naip2
|
UTSW |
13 |
100179372 |
missense |
probably benign |
0.07 |
R2198:Naip2
|
UTSW |
13 |
100152592 |
missense |
probably damaging |
1.00 |
R2906:Naip2
|
UTSW |
13 |
100161996 |
missense |
probably damaging |
1.00 |
R2931:Naip2
|
UTSW |
13 |
100155021 |
missense |
probably benign |
0.00 |
R3014:Naip2
|
UTSW |
13 |
100161782 |
missense |
probably benign |
0.01 |
R3016:Naip2
|
UTSW |
13 |
100161782 |
missense |
probably benign |
0.01 |
R3037:Naip2
|
UTSW |
13 |
100154949 |
missense |
probably benign |
0.08 |
R3414:Naip2
|
UTSW |
13 |
100189263 |
nonsense |
probably null |
|
R3437:Naip2
|
UTSW |
13 |
100154911 |
missense |
probably benign |
0.03 |
R3713:Naip2
|
UTSW |
13 |
100161902 |
missense |
probably damaging |
1.00 |
R3806:Naip2
|
UTSW |
13 |
100152634 |
missense |
possibly damaging |
0.92 |
R3847:Naip2
|
UTSW |
13 |
100179432 |
missense |
probably damaging |
1.00 |
R3847:Naip2
|
UTSW |
13 |
100179433 |
missense |
probably damaging |
1.00 |
R3848:Naip2
|
UTSW |
13 |
100179432 |
missense |
probably damaging |
1.00 |
R3848:Naip2
|
UTSW |
13 |
100179433 |
missense |
probably damaging |
1.00 |
R3849:Naip2
|
UTSW |
13 |
100179432 |
missense |
probably damaging |
1.00 |
R3849:Naip2
|
UTSW |
13 |
100179433 |
missense |
probably damaging |
1.00 |
R3850:Naip2
|
UTSW |
13 |
100179432 |
missense |
probably damaging |
1.00 |
R3850:Naip2
|
UTSW |
13 |
100179433 |
missense |
probably damaging |
1.00 |
R3891:Naip2
|
UTSW |
13 |
100161098 |
missense |
probably damaging |
0.99 |
R4419:Naip2
|
UTSW |
13 |
100160625 |
missense |
probably benign |
0.03 |
R4456:Naip2
|
UTSW |
13 |
100154911 |
missense |
probably benign |
0.03 |
R4458:Naip2
|
UTSW |
13 |
100154911 |
missense |
probably benign |
0.03 |
R4689:Naip2
|
UTSW |
13 |
100148812 |
missense |
probably damaging |
1.00 |
R4797:Naip2
|
UTSW |
13 |
100161735 |
missense |
probably damaging |
1.00 |
R4852:Naip2
|
UTSW |
13 |
100161536 |
missense |
probably benign |
|
R4922:Naip2
|
UTSW |
13 |
100154960 |
missense |
probably benign |
|
R5135:Naip2
|
UTSW |
13 |
100179440 |
missense |
probably damaging |
0.98 |
R5185:Naip2
|
UTSW |
13 |
100189351 |
missense |
probably damaging |
1.00 |
R5265:Naip2
|
UTSW |
13 |
100152560 |
missense |
probably damaging |
1.00 |
R5451:Naip2
|
UTSW |
13 |
100188860 |
missense |
probably benign |
0.12 |
R5521:Naip2
|
UTSW |
13 |
100154914 |
missense |
probably damaging |
1.00 |
R5737:Naip2
|
UTSW |
13 |
100161854 |
missense |
probably benign |
0.38 |
R6244:Naip2
|
UTSW |
13 |
100152137 |
missense |
probably damaging |
1.00 |
R6478:Naip2
|
UTSW |
13 |
100162041 |
missense |
probably benign |
|
R6480:Naip2
|
UTSW |
13 |
100162041 |
missense |
probably benign |
|
R6481:Naip2
|
UTSW |
13 |
100162041 |
missense |
probably benign |
|
R6490:Naip2
|
UTSW |
13 |
100160685 |
missense |
probably benign |
|
R6653:Naip2
|
UTSW |
13 |
100152136 |
missense |
probably benign |
0.00 |
R6653:Naip2
|
UTSW |
13 |
100161844 |
missense |
probably benign |
|
R6768:Naip2
|
UTSW |
13 |
100178324 |
nonsense |
probably null |
|
R6791:Naip2
|
UTSW |
13 |
100154960 |
missense |
probably benign |
|
R6793:Naip2
|
UTSW |
13 |
100154960 |
missense |
probably benign |
|
R6890:Naip2
|
UTSW |
13 |
100162041 |
missense |
probably benign |
|
R7036:Naip2
|
UTSW |
13 |
100155021 |
missense |
probably benign |
0.00 |
R7213:Naip2
|
UTSW |
13 |
100187483 |
missense |
probably damaging |
1.00 |
R7342:Naip2
|
UTSW |
13 |
100189356 |
missense |
probably benign |
0.09 |
R7445:Naip2
|
UTSW |
13 |
100161782 |
missense |
probably benign |
0.01 |
R7572:Naip2
|
UTSW |
13 |
100154960 |
missense |
probably benign |
|
R7699:Naip2
|
UTSW |
13 |
100160369 |
missense |
probably benign |
0.00 |
R7840:Naip2
|
UTSW |
13 |
100144409 |
missense |
probably benign |
0.14 |
R7874:Naip2
|
UTSW |
13 |
100154951 |
missense |
probably benign |
0.00 |
R7874:Naip2
|
UTSW |
13 |
100154960 |
missense |
probably benign |
|
R8038:Naip2
|
UTSW |
13 |
100162062 |
missense |
probably benign |
0.00 |
R8065:Naip2
|
UTSW |
13 |
100189222 |
missense |
probably damaging |
1.00 |
R8094:Naip2
|
UTSW |
13 |
100161782 |
missense |
probably benign |
0.01 |
R8166:Naip2
|
UTSW |
13 |
100162007 |
missense |
probably benign |
0.03 |
R8378:Naip2
|
UTSW |
13 |
100161782 |
missense |
probably benign |
0.01 |
R8669:Naip2
|
UTSW |
13 |
100188969 |
missense |
probably benign |
0.05 |
R8691:Naip2
|
UTSW |
13 |
100161168 |
missense |
probably damaging |
1.00 |
R8716:Naip2
|
UTSW |
13 |
100144406 |
missense |
probably benign |
|
R8720:Naip2
|
UTSW |
13 |
100162122 |
missense |
probably benign |
0.04 |
R8888:Naip2
|
UTSW |
13 |
100189136 |
missense |
probably benign |
0.01 |
R8895:Naip2
|
UTSW |
13 |
100189136 |
missense |
probably benign |
0.01 |
R9031:Naip2
|
UTSW |
13 |
100178268 |
missense |
possibly damaging |
0.55 |
R9072:Naip2
|
UTSW |
13 |
100154951 |
missense |
probably benign |
0.00 |
R9072:Naip2
|
UTSW |
13 |
100154960 |
missense |
probably benign |
|
R9074:Naip2
|
UTSW |
13 |
100154951 |
missense |
probably benign |
0.00 |
R9074:Naip2
|
UTSW |
13 |
100154960 |
missense |
probably benign |
|
R9077:Naip2
|
UTSW |
13 |
100154951 |
missense |
probably benign |
0.00 |
R9077:Naip2
|
UTSW |
13 |
100154960 |
missense |
probably benign |
|
R9176:Naip2
|
UTSW |
13 |
100162199 |
missense |
probably damaging |
1.00 |
R9219:Naip2
|
UTSW |
13 |
100160705 |
missense |
probably benign |
0.06 |
R9358:Naip2
|
UTSW |
13 |
100161572 |
missense |
probably damaging |
1.00 |
R9371:Naip2
|
UTSW |
13 |
100161846 |
nonsense |
probably null |
|
R9414:Naip2
|
UTSW |
13 |
100161735 |
missense |
probably damaging |
1.00 |
R9415:Naip2
|
UTSW |
13 |
100161735 |
missense |
probably damaging |
1.00 |
R9416:Naip2
|
UTSW |
13 |
100161735 |
missense |
probably damaging |
1.00 |
V5622:Naip2
|
UTSW |
13 |
100155021 |
missense |
probably benign |
0.00 |
V5622:Naip2
|
UTSW |
13 |
100155021 |
missense |
probably benign |
0.00 |
X0063:Naip2
|
UTSW |
13 |
100161758 |
missense |
probably damaging |
1.00 |
Y5405:Naip2
|
UTSW |
13 |
100154960 |
missense |
probably benign |
|
Z1088:Naip2
|
UTSW |
13 |
100161909 |
missense |
probably benign |
|
Z1176:Naip2
|
UTSW |
13 |
100161593 |
missense |
probably benign |
0.02 |
Z1176:Naip2
|
UTSW |
13 |
100161909 |
missense |
probably benign |
|
Z1177:Naip2
|
UTSW |
13 |
100152629 |
missense |
possibly damaging |
0.65 |
Z1177:Naip2
|
UTSW |
13 |
100161909 |
missense |
probably benign |
|
Z1177:Naip2
|
UTSW |
13 |
100162865 |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGATCAAGCACCATCCCTTACC -3'
(R):5'- TGTGAGTCTAGAGTCCAGCACAGG -3'
Sequencing Primer
(F):5'- TACCTAGTTTGGAGAGGTCAGACTC -3'
(R):5'- ACAGGGCTTGCCCTAGAG -3'
|
Posted On |
2014-01-29 |