Incidental Mutation 'R5823:Nipsnap2'
ID 450026
Institutional Source Beutler Lab
Gene Symbol Nipsnap2
Ensembl Gene ENSMUSG00000029432
Gene Name nipsnap homolog 2
Synonyms Gbas, Nipsnap2
MMRRC Submission 043215-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5823 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 129802127-129835391 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to A at 129816833 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Acsl3 G T 1: 78,666,003 (GRCm39) R143L probably benign Het
Ankrd11 A T 8: 123,622,529 (GRCm39) I420K probably benign Het
Aoc1l2 T A 6: 48,907,486 (GRCm39) I162N probably damaging Het
Cwh43 A G 5: 73,569,213 (GRCm39) E85G probably benign Het
Dnah1 G T 14: 30,988,375 (GRCm39) F3442L possibly damaging Het
Dock6 T A 9: 21,716,124 (GRCm39) N1737I probably damaging Het
Fcf1 A G 12: 85,020,921 (GRCm39) Y55C possibly damaging Het
Fer1l6 T A 15: 58,462,352 (GRCm39) Y802* probably null Het
Fgf9 T G 14: 58,320,759 (GRCm39) S10A probably damaging Het
Fhad1 A G 4: 141,682,617 (GRCm39) I508T possibly damaging Het
Flnc T C 6: 29,461,201 (GRCm39) V2692A probably damaging Het
Gm38119 G T 3: 92,645,380 (GRCm39) H71Q unknown Het
Hcn1 A T 13: 117,739,388 (GRCm39) H50L unknown Het
Helz2 T C 2: 180,878,189 (GRCm39) T870A possibly damaging Het
Iqcf4 T C 9: 106,445,800 (GRCm39) I116V probably benign Het
Lama5 T A 2: 179,834,285 (GRCm39) I1383F probably benign Het
Lmo2 C T 2: 103,811,417 (GRCm39) T150I probably damaging Het
Mgat4f T A 1: 134,318,655 (GRCm39) W476R probably damaging Het
Myh13 A G 11: 67,251,294 (GRCm39) E1391G probably damaging Het
Mylk T A 16: 34,715,317 (GRCm39) probably null Het
Nat10 A T 2: 103,560,612 (GRCm39) V731D probably damaging Het
Ncapd2 A G 6: 125,145,663 (GRCm39) V1328A probably benign Het
Nfu1 C A 6: 87,002,541 (GRCm39) Q207K probably damaging Het
Npc1 T C 18: 12,324,846 (GRCm39) K1216E possibly damaging Het
Or2r3 C A 6: 42,448,906 (GRCm39) V69L probably benign Het
Phf3 T C 1: 30,843,764 (GRCm39) I1732V probably damaging Het
Rasgrp4 G T 7: 28,837,142 (GRCm39) R67L probably benign Het
Rubcn T C 16: 32,670,091 (GRCm39) D88G probably damaging Het
Slc30a2 T C 4: 134,073,289 (GRCm39) I112T probably damaging Het
Slc35d2 A G 13: 64,268,419 (GRCm39) I78T probably damaging Het
Slc9a4 T A 1: 40,658,277 (GRCm39) M600K probably damaging Het
Slfn8 A G 11: 82,907,562 (GRCm39) I327T probably benign Het
Tas2r118 A G 6: 23,969,470 (GRCm39) I197T probably benign Het
Tex15 A G 8: 34,060,962 (GRCm39) I405V possibly damaging Het
Thsd7b T C 1: 129,605,821 (GRCm39) S521P probably benign Het
Trim36 A G 18: 46,302,407 (GRCm39) L535P probably damaging Het
Trim63 A T 4: 134,043,842 (GRCm39) I102F probably damaging Het
Wdr47 G A 3: 108,550,401 (GRCm39) V809M probably damaging Het
Other mutations in Nipsnap2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R3124:Nipsnap2 UTSW 5 129,825,098 (GRCm39) critical splice donor site probably null
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
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'- GACGAGCAGTCTGTACAAGTTAC -3'
(R):5'- GTCCCGATTGAGCAAACTGTG -3'

Sequencing Primer
(F):5'- TTACAGTGTGAGTAGCGGCCC -3'
(R):5'- TGAGTGCTTAAAGGTGCCCC -3'
Posted On 2016-12-20