Incidental Mutation 'R6495:Nubp2'
ID 520477
Institutional Source Beutler Lab
Gene Symbol Nubp2
Ensembl Gene ENSMUSG00000039183
Gene Name nucleotide binding protein 2
Synonyms D17Wsu11e
MMRRC Submission 044627-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6495 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 25101585-25105323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25104577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 54 (D54E)
Ref Sequence ENSEMBL: ENSMUSP00000049319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024976] [ENSMUST00000044252] [ENSMUST00000050714] [ENSMUST00000068508] [ENSMUST00000117890] [ENSMUST00000119829] [ENSMUST00000120943] [ENSMUST00000130194] [ENSMUST00000168265] [ENSMUST00000144430] [ENSMUST00000119848]
AlphaFold Q9R061
Predicted Effect probably benign
Transcript: ENSMUST00000024976
SMART Domains Protein: ENSMUSP00000024976
Gene: ENSMUSG00000024160

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
low complexity region 52 65 N/A INTRINSIC
low complexity region 73 84 N/A INTRINSIC
low complexity region 133 144 N/A INTRINSIC
Pfam:SPRY 181 304 5.7e-18 PFAM
SOCS_box 309 347 2.8e0 SMART
low complexity region 364 373 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000044252
AA Change: D54E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049319
Gene: ENSMUSG00000039183
AA Change: D54E

DomainStartEndE-ValueType
Pfam:ParA 16 267 3.2e-99 PFAM
Pfam:ArsA_ATPase 19 66 1.7e-8 PFAM
Pfam:AAA_31 19 79 1.5e-8 PFAM
Pfam:MipZ 19 155 2.1e-10 PFAM
Pfam:CbiA 21 199 2.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050714
SMART Domains Protein: ENSMUSP00000060169
Gene: ENSMUSG00000046070

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
LRRNT 40 78 9.37e-10 SMART
LRR 77 96 1.62e1 SMART
LRR 97 120 1.41e1 SMART
LRR_TYP 121 144 6.78e-3 SMART
LRR 145 168 1.03e1 SMART
LRR_TYP 169 192 1.1e-2 SMART
LRR 193 216 2.17e-1 SMART
LRR_TYP 217 240 2.4e-3 SMART
LRR_TYP 241 264 1.82e-3 SMART
LRR 265 288 5.72e-1 SMART
LRR_TYP 289 312 6.23e-2 SMART
LRR_TYP 313 336 6.32e-3 SMART
LRR_TYP 337 360 2.2e-2 SMART
LRR 361 384 1.89e-1 SMART
LRR 385 408 3.87e1 SMART
LRR 409 432 2.67e-1 SMART
LRR_TYP 433 456 1.06e-4 SMART
LRR_TYP 457 480 6.78e-3 SMART
LRR 481 504 1.09e2 SMART
LRR 505 530 2.68e1 SMART
LRRCT 535 582 5.11e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068508
SMART Domains Protein: ENSMUSP00000068567
Gene: ENSMUSG00000024160

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 38 49 N/A INTRINSIC
low complexity region 98 109 N/A INTRINSIC
Pfam:SPRY 146 252 1.3e-13 PFAM
low complexity region 295 308 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117890
SMART Domains Protein: ENSMUSP00000112380
Gene: ENSMUSG00000024160

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 38 49 N/A INTRINSIC
low complexity region 98 109 N/A INTRINSIC
Pfam:SPRY 146 269 1.6e-18 PFAM
SOCS_box 274 312 2.8e0 SMART
low complexity region 329 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119829
SMART Domains Protein: ENSMUSP00000112589
Gene: ENSMUSG00000024160

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 38 49 N/A INTRINSIC
low complexity region 98 109 N/A INTRINSIC
Pfam:SPRY 146 294 6.9e-16 PFAM
SOCS_box 299 337 2.8e0 SMART
low complexity region 354 363 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120943
SMART Domains Protein: ENSMUSP00000112492
Gene: ENSMUSG00000024160

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 38 49 N/A INTRINSIC
low complexity region 98 109 N/A INTRINSIC
Pfam:SPRY 146 269 1.6e-18 PFAM
SOCS_box 274 312 2.8e0 SMART
low complexity region 329 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130194
SMART Domains Protein: ENSMUSP00000119896
Gene: ENSMUSG00000024160

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 38 49 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168265
SMART Domains Protein: ENSMUSP00000126878
Gene: ENSMUSG00000024160

DomainStartEndE-ValueType
low complexity region 29 42 N/A INTRINSIC
low complexity region 55 69 N/A INTRINSIC
low complexity region 145 156 N/A INTRINSIC
low complexity region 163 176 N/A INTRINSIC
low complexity region 184 195 N/A INTRINSIC
low complexity region 244 255 N/A INTRINSIC
Pfam:SPRY 294 416 5.8e-20 PFAM
SOCS_box 420 458 2.8e0 SMART
low complexity region 475 484 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144430
SMART Domains Protein: ENSMUSP00000117226
Gene: ENSMUSG00000024160

DomainStartEndE-ValueType
low complexity region 43 58 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119848
SMART Domains Protein: ENSMUSP00000113167
Gene: ENSMUSG00000073436

DomainStartEndE-ValueType
low complexity region 13 24 N/A INTRINSIC
ERCC4 71 320 8.51e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134932
Meta Mutation Damage Score 0.9474 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 T A 12: 112,740,148 (GRCm39) E502V probably damaging Het
Apbb1ip T A 2: 22,743,132 (GRCm39) Y321* probably null Het
Apob A G 12: 8,040,394 (GRCm39) K577R probably null Het
Arfgef3 A G 10: 18,486,950 (GRCm39) probably null Het
Asap3 T A 4: 135,955,790 (GRCm39) probably null Het
Atp13a5 C T 16: 29,140,440 (GRCm39) probably null Het
Bcan C A 3: 87,903,904 (GRCm39) A194S possibly damaging Het
Cacybp T C 1: 160,036,093 (GRCm39) T32A probably benign Het
Cd82 A G 2: 93,260,357 (GRCm39) V90A probably benign Het
Chd5 C T 4: 152,451,829 (GRCm39) R714C probably damaging Het
Cpb2 T C 14: 75,512,519 (GRCm39) Y311H probably damaging Het
Cyp39a1 T C 17: 44,002,585 (GRCm39) Y267H probably benign Het
Dnajc6 C T 4: 101,492,262 (GRCm39) Q766* probably null Het
Dusp3 T C 11: 101,872,653 (GRCm39) I48V probably benign Het
Eif3c A T 7: 126,146,672 (GRCm39) F809I probably damaging Het
Exosc10 C T 4: 148,647,329 (GRCm39) P213S probably benign Het
Galns C T 8: 123,327,349 (GRCm39) G141D probably damaging Het
Gm3233 A T 10: 77,594,886 (GRCm39) probably benign Het
Hadha A T 5: 30,325,048 (GRCm39) L714H probably benign Het
Map3k20 T C 2: 72,198,763 (GRCm39) M123T probably damaging Het
Nt5dc1 A G 10: 34,200,365 (GRCm39) L217P probably damaging Het
Onecut1 C T 9: 74,770,497 (GRCm39) R307C probably damaging Het
Or5b116 T A 19: 13,422,989 (GRCm39) D204E probably benign Het
Pcdhb17 A G 18: 37,618,720 (GRCm39) Y170C probably damaging Het
Pkd2 T A 5: 104,637,159 (GRCm39) C591S probably damaging Het
Pramel15 T C 4: 144,103,409 (GRCm39) N239S probably benign Het
Pwp2 A T 10: 78,012,961 (GRCm39) V549E probably damaging Het
Rapsn A T 2: 90,866,973 (GRCm39) S92C probably damaging Het
Rbm19 A G 5: 120,257,745 (GRCm39) S90G probably damaging Het
Rfc1 G A 5: 65,431,158 (GRCm39) probably null Het
Rims2 T A 15: 39,381,208 (GRCm39) F1046L probably benign Het
S100a16 C T 3: 90,449,735 (GRCm39) R73C probably benign Het
Shroom3 T C 5: 93,089,928 (GRCm39) Y893H possibly damaging Het
Stt3b T A 9: 115,096,388 (GRCm39) Y253F possibly damaging Het
Taar8b A G 10: 23,967,160 (GRCm39) *345Q probably null Het
Tas2r119 G A 15: 32,177,676 (GRCm39) V81I probably benign Het
Tas2r129 A G 6: 132,928,128 (GRCm39) I22V probably benign Het
Tbc1d19 T G 5: 54,046,555 (GRCm39) probably null Het
Tnip3 A T 6: 65,582,846 (GRCm39) I218F probably benign Het
Tnks A T 8: 35,307,120 (GRCm39) probably null Het
Ttc29 T C 8: 79,008,963 (GRCm39) Y278H possibly damaging Het
Tut7 T C 13: 59,947,753 (GRCm39) E454G possibly damaging Het
Uba7 T A 9: 107,854,213 (GRCm39) C214* probably null Het
Vmn2r115 A T 17: 23,578,572 (GRCm39) I682F probably benign Het
Vmn2r75 A T 7: 85,813,287 (GRCm39) M505K probably benign Het
Wdr19 A T 5: 65,415,466 (GRCm39) T1313S probably benign Het
Zbtb22 A G 17: 34,136,224 (GRCm39) D123G probably damaging Het
Zdhhc7 A G 8: 120,813,395 (GRCm39) I138T probably benign Het
Zfp706 T C 15: 37,004,045 (GRCm39) K7R unknown Het
Zkscan3 G A 13: 21,572,075 (GRCm39) P519L probably damaging Het
Other mutations in Nubp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02706:Nubp2 APN 17 25,102,171 (GRCm39) missense probably benign 0.06
R0238:Nubp2 UTSW 17 25,103,445 (GRCm39) missense probably damaging 1.00
R0238:Nubp2 UTSW 17 25,103,445 (GRCm39) missense probably damaging 1.00
R0239:Nubp2 UTSW 17 25,103,445 (GRCm39) missense probably damaging 1.00
R0239:Nubp2 UTSW 17 25,103,445 (GRCm39) missense probably damaging 1.00
R1329:Nubp2 UTSW 17 25,102,838 (GRCm39) missense possibly damaging 0.91
R1528:Nubp2 UTSW 17 25,103,388 (GRCm39) missense probably damaging 1.00
R4270:Nubp2 UTSW 17 25,104,567 (GRCm39) missense probably damaging 1.00
R4860:Nubp2 UTSW 17 25,103,430 (GRCm39) missense probably benign
R4860:Nubp2 UTSW 17 25,103,430 (GRCm39) missense probably benign
R5799:Nubp2 UTSW 17 25,104,772 (GRCm39) missense probably damaging 0.96
R8400:Nubp2 UTSW 17 25,103,439 (GRCm39) missense probably damaging 0.96
R9250:Nubp2 UTSW 17 25,103,373 (GRCm39) critical splice donor site probably null
R9396:Nubp2 UTSW 17 25,103,476 (GRCm39) missense probably benign 0.00
R9626:Nubp2 UTSW 17 25,103,374 (GRCm39) critical splice donor site probably null
R9651:Nubp2 UTSW 17 25,103,382 (GRCm39) missense probably damaging 1.00
R9652:Nubp2 UTSW 17 25,103,382 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCATGTTTCTTGGGACCTC -3'
(R):5'- GTGCGACACATCATCCTTGTTC -3'

Sequencing Primer
(F):5'- TGGGACCTCTCCACACC -3'
(R):5'- ATCATCCTTGTTCTTTCTGGAAAGG -3'
Posted On 2018-06-06