Incidental Mutation 'R3124:Nipsnap2'
| ID |
264191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nipsnap2
|
| Ensembl Gene |
ENSMUSG00000029432 |
| Gene Name |
nipsnap homolog 2 |
| Synonyms |
Gbas, Nipsnap2 |
| MMRRC Submission |
040597-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
129802127-129835391 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 129825098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086046]
[ENSMUST00000124342]
[ENSMUST00000186265]
[ENSMUST00000186265]
[ENSMUST00000195946]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000086046
|
| SMART Domains |
Protein: ENSMUSP00000083211
Gene: ENSMUSG00000029432
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:NIPSNAP
|
182 |
279 |
2.6e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124342
|
| SMART Domains |
Protein: ENSMUSP00000117705
Gene: ENSMUSG00000029432
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:NIPSNAP
|
182 |
279 |
2.8e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137604
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186265
|
| SMART Domains |
Protein: ENSMUSP00000141131
Gene: ENSMUSG00000029432
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:NIPSNAP
|
182 |
279 |
2.8e-30 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186265
|
| SMART Domains |
Protein: ENSMUSP00000141131
Gene: ENSMUSG00000029432
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:NIPSNAP
|
182 |
279 |
2.8e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195946
|
| SMART Domains |
Protein: ENSMUSP00000142916
Gene: ENSMUSG00000029432
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9591 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| 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 NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
| Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
| Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
| Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
| Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
| Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
| Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
| Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
| Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
| Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
| Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
| Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
probably damaging |
Het |
| Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly damaging |
Het |
|
| Other mutations in Nipsnap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Nipsnap2
|
APN |
5 |
129,831,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01012:Nipsnap2
|
APN |
5 |
129,823,503 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01320:Nipsnap2
|
APN |
5 |
129,821,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01321:Nipsnap2
|
APN |
5 |
129,834,205 (GRCm39) |
makesense |
probably null |
|
|
IGL02119:Nipsnap2
|
APN |
5 |
129,825,056 (GRCm39) |
splice site |
probably benign |
|
|
IGL02636:Nipsnap2
|
APN |
5 |
129,822,354 (GRCm39) |
intron |
probably benign |
|
|
R0540:Nipsnap2
|
UTSW |
5 |
129,831,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1497:Nipsnap2
|
UTSW |
5 |
129,830,282 (GRCm39) |
intron |
probably benign |
|
|
R1649:Nipsnap2
|
UTSW |
5 |
129,830,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1743:Nipsnap2
|
UTSW |
5 |
129,834,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Nipsnap2
|
UTSW |
5 |
129,830,287 (GRCm39) |
splice site |
probably null |
|
|
R2187:Nipsnap2
|
UTSW |
5 |
129,823,537 (GRCm39) |
splice site |
probably null |
|
|
R2215:Nipsnap2
|
UTSW |
5 |
129,816,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2430:Nipsnap2
|
UTSW |
5 |
129,821,855 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5072:Nipsnap2
|
UTSW |
5 |
129,816,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5150:Nipsnap2
|
UTSW |
5 |
129,834,175 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5823:Nipsnap2
|
UTSW |
5 |
129,816,833 (GRCm39) |
splice site |
probably null |
|
|
R6736:Nipsnap2
|
UTSW |
5 |
129,822,352 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6913:Nipsnap2
|
UTSW |
5 |
129,830,357 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7163:Nipsnap2
|
UTSW |
5 |
129,821,774 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7597:Nipsnap2
|
UTSW |
5 |
129,816,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACCAGTGAGGATGGCTTC -3'
(R):5'- CTGAAGGAAGATTTACCTCGGC -3'
Sequencing Primer
(F):5'- TTCCCCTTGGGCTGTACGAAG -3'
(R):5'- GTTGAGGCACACACTTGTACATCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation