Incidental Mutation 'R1649:Nipsnap2'
ID 174088
Institutional Source Beutler Lab
Gene Symbol Nipsnap2
Ensembl Gene ENSMUSG00000029432
Gene Name nipsnap homolog 2
Synonyms Gbas, Nipsnap2
MMRRC Submission 039685-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1649 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 129802127-129835391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129830301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 205 (I205N)
Ref Sequence ENSEMBL: ENSMUSP00000141131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086046] [ENSMUST00000124342] [ENSMUST00000186265] [ENSMUST00000195946]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000086046
AA Change: I205N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000083211
Gene: ENSMUSG00000029432
AA Change: I205N

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:NIPSNAP 182 279 2.6e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124342
AA Change: I205N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117705
Gene: ENSMUSG00000029432
AA Change: I205N

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:NIPSNAP 182 279 2.8e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137604
Predicted Effect probably damaging
Transcript: ENSMUST00000186265
AA Change: I205N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141131
Gene: ENSMUSG00000029432
AA Change: I205N

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: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 88.1%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1a1 T A 4: 116,495,217 (GRCm39) I261F probably damaging Het
Aldh1l1 T C 6: 90,541,371 (GRCm39) V255A probably benign Het
Ambn T A 5: 88,612,340 (GRCm39) M172K probably benign Het
Arhgef18 A G 8: 3,439,094 (GRCm39) probably benign Het
BC034090 T C 1: 155,101,319 (GRCm39) H315R possibly damaging Het
Btaf1 T A 19: 36,959,122 (GRCm39) D707E probably benign Het
C6 T C 15: 4,764,739 (GRCm39) L145P possibly damaging Het
Cav3 T A 6: 112,449,207 (GRCm39) L75Q probably damaging Het
Cavin2 T A 1: 51,339,939 (GRCm39) D205E probably benign Het
Cdadc1 T C 14: 59,811,242 (GRCm39) T423A probably damaging Het
Cep120 A T 18: 53,857,648 (GRCm39) H272Q probably damaging Het
Chd9 A T 8: 91,659,229 (GRCm39) Q63L possibly damaging Het
Clspn T C 4: 126,460,228 (GRCm39) probably benign Het
Cramp1 G T 17: 25,202,217 (GRCm39) H422N probably damaging Het
Csn1s2b A T 5: 87,966,943 (GRCm39) M71L probably benign Het
D630045J12Rik C A 6: 38,158,366 (GRCm39) A1104S probably damaging Het
D930048N14Rik A G 11: 51,545,663 (GRCm39) probably benign Het
Ern2 G A 7: 121,776,623 (GRCm39) P366S probably damaging Het
Gm1527 T C 3: 28,952,880 (GRCm39) I60T probably damaging Het
Gse1 T C 8: 121,305,254 (GRCm39) probably benign Het
Ildr1 T C 16: 36,528,681 (GRCm39) L42P probably damaging Het
Itih2 G A 2: 10,110,546 (GRCm39) T515I probably benign Het
Jcad C A 18: 4,673,309 (GRCm39) P357Q probably damaging Het
Kitl A G 10: 99,899,976 (GRCm39) T94A probably benign Het
Klri1 C T 6: 129,675,204 (GRCm39) M185I probably benign Het
Lsamp A T 16: 41,775,661 (GRCm39) M171L probably benign Het
Macf1 T G 4: 123,377,846 (GRCm39) I1460L probably damaging Het
Map1b C G 13: 99,652,986 (GRCm39) V4L probably benign Het
Mboat7 A T 7: 3,688,817 (GRCm39) V237D probably benign Het
Mctp2 A T 7: 71,811,006 (GRCm39) I656K probably damaging Het
Ms4a6b A G 19: 11,497,806 (GRCm39) D35G possibly damaging Het
Nsd2 T C 5: 34,011,984 (GRCm39) V264A probably damaging Het
Oacyl C T 18: 65,883,167 (GRCm39) T582I probably damaging Het
Olfm1 A T 2: 28,119,279 (GRCm39) T333S possibly damaging Het
Olfm4 G A 14: 80,249,422 (GRCm39) E180K probably damaging Het
Or14j6 T C 17: 38,215,060 (GRCm39) F208L probably benign Het
Or2ad1 A T 13: 21,326,912 (GRCm39) L105Q probably damaging Het
Or8g17 T G 9: 38,930,776 (GRCm39) Q20H probably benign Het
Parp4 T A 14: 56,827,885 (GRCm39) V212E possibly damaging Het
Pcdhb21 T A 18: 37,648,666 (GRCm39) N598K probably damaging Het
Piezo2 C A 18: 63,250,743 (GRCm39) W452L probably benign Het
Plec C A 15: 76,090,011 (GRCm39) A110S possibly damaging Het
Popdc3 T C 10: 45,191,320 (GRCm39) Y144H probably damaging Het
Ptgdr T C 14: 45,095,959 (GRCm39) H251R probably benign Het
Ptpro T A 6: 137,421,015 (GRCm39) Y246* probably null Het
Pyroxd2 T C 19: 42,726,573 (GRCm39) D247G probably damaging Het
Robo2 T C 16: 73,695,889 (GRCm39) E1418G probably benign Het
Rtp3 T C 9: 110,815,772 (GRCm39) T198A probably benign Het
Sec16a A T 2: 26,315,536 (GRCm39) V1767D probably damaging Het
Septin14 T C 5: 129,774,819 (GRCm39) N119D probably benign Het
Serpina5 A T 12: 104,071,484 (GRCm39) T364S possibly damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Sh3bp2 C T 5: 34,716,348 (GRCm39) A253V possibly damaging Het
Slc6a5 G T 7: 49,586,010 (GRCm39) G443C probably damaging Het
Spag9 T A 11: 93,999,278 (GRCm39) probably null Het
Sptbn1 T C 11: 30,087,301 (GRCm39) E1033G probably damaging Het
Timm17a T G 1: 135,237,540 (GRCm39) Q39P probably damaging Het
Tmem26 A T 10: 68,587,103 (GRCm39) T184S probably damaging Het
Tpi1 A T 6: 124,789,891 (GRCm39) probably null Het
Tssk5 T C 15: 76,258,003 (GRCm39) Y118C possibly damaging Het
Ttll4 T A 1: 74,736,629 (GRCm39) L1118Q possibly damaging Het
Ttll5 T A 12: 85,969,788 (GRCm39) L691Q probably damaging Het
Vmn1r49 A T 6: 90,049,623 (GRCm39) H126Q possibly damaging Het
Zfp518b A T 5: 38,829,224 (GRCm39) V927E probably damaging Het
Zfp618 T C 4: 63,013,774 (GRCm39) F213S probably damaging Het
Zfp759 T A 13: 67,287,668 (GRCm39) N406K probably benign 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
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
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'- ACATAGTCTGACTCTTTGCTGTGCC -3'
(R):5'- ATAAGCTGTGAATCCGCCGACC -3'

Sequencing Primer
(F):5'- ttgctgtgcctagaaaggg -3'
(R):5'- CCTATAGTGTCCAAGGTTCTCAAGAG -3'
Posted On 2014-04-24