Incidental Mutation 'R5150:Nipsnap2'
ID 395299
Institutional Source Beutler Lab
Gene Symbol Nipsnap2
Ensembl Gene ENSMUSG00000029432
Gene Name nipsnap homolog 2
Synonyms Gbas, Nipsnap2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5150 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 129802127-129835391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 129834175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 272 (M272L)
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 benign
Transcript: ENSMUST00000086046
AA Change: M272L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000083211
Gene: ENSMUSG00000029432
AA Change: M272L

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:NIPSNAP 182 279 2.6e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124342
AA Change: M272L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000117705
Gene: ENSMUSG00000029432
AA Change: M272L

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 benign
Transcript: ENSMUST00000186265
AA Change: M272L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141131
Gene: ENSMUSG00000029432
AA Change: M272L

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
Meta Mutation Damage Score 0.0946 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 93% (57/61)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam33 T C 2: 130,895,117 (GRCm39) probably benign Het
Ahnak T C 19: 8,988,268 (GRCm39) V3184A possibly damaging Het
Aoc1 A G 6: 48,883,084 (GRCm39) N320S possibly damaging Het
Bin2 T C 15: 100,543,244 (GRCm39) E313G probably damaging Het
Brd10 C A 19: 29,782,950 (GRCm39) A109S probably damaging Het
C9orf72 A G 4: 35,193,270 (GRCm39) S228P possibly damaging Het
Ccdc47 T C 11: 106,096,265 (GRCm39) D253G possibly damaging Het
Ccdc73 A G 2: 104,822,384 (GRCm39) T778A probably benign Het
Cops3 C A 11: 59,710,839 (GRCm39) D377Y probably damaging Het
Cyp4a14 A C 4: 115,350,806 (GRCm39) V156G probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Disp1 C A 1: 182,871,063 (GRCm39) M452I probably damaging Het
Fam210b T C 2: 172,193,468 (GRCm39) Y94H probably damaging Het
Fbxo45 C A 16: 32,065,524 (GRCm39) probably benign Het
Flrt2 T A 12: 95,745,977 (GRCm39) M105K possibly damaging Het
Gm26558 G A 2: 70,491,656 (GRCm39) probably benign Het
Gpr83 T G 9: 14,772,101 (GRCm39) L91R probably damaging Het
Greb1l TTTAATAACTT TTT 18: 10,555,950 (GRCm39) probably null Het
Hmces T A 6: 87,910,217 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Ksr2 A C 5: 117,693,074 (GRCm39) E174A probably damaging Het
Lats1 A G 10: 7,588,415 (GRCm39) T1011A probably benign Het
Lrrc46 T C 11: 96,926,957 (GRCm39) D120G probably damaging Het
Ncstn C A 1: 171,895,151 (GRCm39) probably benign Het
Neb T C 2: 52,059,130 (GRCm39) T6118A probably benign Het
Nlgn2 C T 11: 69,716,216 (GRCm39) R775H probably damaging Het
Or13c7c A G 4: 43,836,301 (GRCm39) L63P probably damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or4f15 T A 2: 111,814,366 (GRCm39) T18S probably benign Het
Or4f61 T A 2: 111,922,880 (GRCm39) L55F possibly damaging Het
Or4g17 T A 2: 111,209,598 (GRCm39) D84E probably damaging Het
Or5b118 A T 19: 13,448,794 (GRCm39) Q153H probably benign Het
Pold1 A G 7: 44,185,256 (GRCm39) V750A possibly damaging Het
Prdm11 C T 2: 92,805,817 (GRCm39) E378K probably damaging Het
Ptpn9 A G 9: 56,943,954 (GRCm39) D276G probably benign Het
Rlf A T 4: 121,005,369 (GRCm39) F1204I probably damaging Het
Robo1 C A 16: 72,769,192 (GRCm39) T537K possibly damaging Het
Sec31b T A 19: 44,508,970 (GRCm39) M670L probably benign Het
Sephs1 T A 2: 4,904,321 (GRCm39) V233E possibly damaging Het
Serpinb2 T C 1: 107,450,939 (GRCm39) probably null Het
Sf3b3 T C 8: 111,550,008 (GRCm39) Q670R possibly damaging Het
Slc8a2 A C 7: 15,879,101 (GRCm39) D529A possibly damaging Het
Sva A G 6: 42,019,093 (GRCm39) N88D probably benign Het
Tcf15 G T 2: 151,986,051 (GRCm39) R169L probably damaging Het
Tfr2 A G 5: 137,572,752 (GRCm39) T188A probably benign Het
Tshz1 T A 18: 84,031,340 (GRCm39) K1023* probably null Het
Ttc28 A G 5: 111,373,555 (GRCm39) N966S probably damaging Het
Unc5c T A 3: 141,463,554 (GRCm39) I225N probably damaging Het
Ush2a T C 1: 188,184,067 (GRCm39) L1457S possibly damaging Het
Zbtb34 G T 2: 33,301,133 (GRCm39) H469Q probably damaging Het
Zfp692 T C 11: 58,198,413 (GRCm39) M1T probably null 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
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'- CTGTAACATCCTTGTTGATGGAG -3'
(R):5'- CCGCTTCTGGTAGTTCAACC -3'

Sequencing Primer
(F):5'- AACATCCTTGTTGATGGAGTTGGG -3'
(R):5'- TGGTAGTTCAACCCTCCTGAG -3'
Posted On 2016-06-21