Incidental Mutation 'R6722:Nt5c1b'
ID 529652
Institutional Source Beutler Lab
Gene Symbol Nt5c1b
Ensembl Gene ENSMUSG00000020622
Gene Name 5'-nucleotidase, cytosolic IB
Synonyms 4921514H13Rik, CN-IB
MMRRC Submission 044840-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6722 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 10419973-10440175 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10422874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 56 (Y56N)
Ref Sequence ENSEMBL: ENSMUSP00000151771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002456] [ENSMUST00000118657] [ENSMUST00000143739] [ENSMUST00000147323] [ENSMUST00000217944] [ENSMUST00000218026] [ENSMUST00000218287] [ENSMUST00000218327] [ENSMUST00000218339] [ENSMUST00000218417] [ENSMUST00000218551] [ENSMUST00000219049] [ENSMUST00000219292] [ENSMUST00000219826] [ENSMUST00000220257] [ENSMUST00000220611] [ENSMUST00000223534]
AlphaFold Q91YE9
Predicted Effect probably benign
Transcript: ENSMUST00000002456
AA Change: Y56N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
AA Change: Y56N

DomainStartEndE-ValueType
low complexity region 93 105 N/A INTRINSIC
low complexity region 137 145 N/A INTRINSIC
low complexity region 227 233 N/A INTRINSIC
Pfam:5-nucleotidase 298 570 1.6e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118657
AA Change: Y56N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
AA Change: Y56N

DomainStartEndE-ValueType
low complexity region 91 103 N/A INTRINSIC
low complexity region 135 143 N/A INTRINSIC
low complexity region 225 231 N/A INTRINSIC
Pfam:5-nucleotidase 280 553 7e-112 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000143739
AA Change: Y56N
SMART Domains Protein: ENSMUSP00000123105
Gene: ENSMUSG00000020622
AA Change: Y56N

DomainStartEndE-ValueType
low complexity region 151 163 N/A INTRINSIC
low complexity region 195 203 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147323
AA Change: Y56N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622
AA Change: Y56N

DomainStartEndE-ValueType
low complexity region 93 105 N/A INTRINSIC
low complexity region 137 145 N/A INTRINSIC
low complexity region 227 233 N/A INTRINSIC
Pfam:5-nucleotidase 298 466 4.8e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217944
AA Change: Y114N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000218026
AA Change: Y56N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000218287
AA Change: Y114N

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect unknown
Transcript: ENSMUST00000218288
AA Change: Y1N
Predicted Effect probably benign
Transcript: ENSMUST00000218327
AA Change: Y56N

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000218339
AA Change: Y56N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000218417
AA Change: Y114N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000218551
AA Change: Y56N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219049
AA Change: Y56N

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000219292
AA Change: Y56N

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000219826
AA Change: Y114N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000219630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218148
Predicted Effect probably benign
Transcript: ENSMUST00000220257
AA Change: Y114N

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000220611
AA Change: Y56N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000223534
AA Change: Y56N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 96% (52/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T G 12: 81,468,228 (GRCm39) D131A probably damaging Het
Ank3 T C 10: 69,826,074 (GRCm39) probably benign Het
Atp1a4 T C 1: 172,085,617 (GRCm39) probably benign Het
Bmal2 T A 6: 146,720,398 (GRCm39) D187E probably damaging Het
Castor2 T C 5: 134,164,458 (GRCm39) S140P probably benign Het
Ccdc162 T C 10: 41,520,637 (GRCm39) N673S probably benign Het
Cd84 G A 1: 171,700,344 (GRCm39) V154M probably damaging Het
Celsr1 C A 15: 85,790,115 (GRCm39) probably null Het
Cfap57 A C 4: 118,441,914 (GRCm39) L718R probably damaging Het
Cntnap5b G A 1: 100,406,211 (GRCm39) V803M probably damaging Het
Col6a2 C T 10: 76,450,392 (GRCm39) V180I probably damaging Het
Coq4 A T 2: 29,678,297 (GRCm39) probably benign Het
Cyp2a4 A G 7: 26,012,983 (GRCm39) T389A probably benign Het
Dennd1c T C 17: 57,373,802 (GRCm39) D587G probably benign Het
Dnaja4 A G 9: 54,607,038 (GRCm39) D9G probably damaging Het
Hes2 T G 4: 152,244,834 (GRCm39) L101R probably damaging Het
Icam2 A G 11: 106,273,307 (GRCm39) S2P probably damaging Het
Krt31 A G 11: 99,939,254 (GRCm39) L221P probably damaging Het
Lipm A T 19: 34,098,665 (GRCm39) N380Y probably benign Het
Lrp2bp G A 8: 46,473,600 (GRCm39) probably null Het
Mbd2 T A 18: 70,713,819 (GRCm39) M216K probably damaging Het
Mrps33 T C 6: 39,782,599 (GRCm39) probably benign Het
Nbeal2 T C 9: 110,462,060 (GRCm39) D1459G probably damaging Het
Ncapd3 T C 9: 26,998,852 (GRCm39) S1281P probably benign Het
Nthl1 A G 17: 24,853,008 (GRCm39) K71E probably benign Het
Or4f62 T A 2: 111,987,227 (GRCm39) N310K probably benign Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pde4a G A 9: 21,122,521 (GRCm39) A806T probably damaging Het
Pde4d C A 13: 109,769,432 (GRCm39) S40* probably null Het
Pde4dip G A 3: 97,625,555 (GRCm39) R1348* probably null Het
Pdx1 C T 5: 147,207,310 (GRCm39) P88S probably damaging Het
Pnisr T A 4: 21,859,165 (GRCm39) V120D probably damaging Het
Prss51 G T 14: 64,332,508 (GRCm39) C65F probably damaging Het
Pus10 G A 11: 23,652,975 (GRCm39) E195K possibly damaging Het
Pzp T A 6: 128,464,917 (GRCm39) Q1319L probably damaging Het
Rbpms G T 8: 34,324,421 (GRCm39) T101K probably damaging Het
Rundc3a A G 11: 102,290,775 (GRCm39) N281S possibly damaging Het
Scml4 C T 10: 42,736,728 (GRCm39) probably benign Het
Sez6 T C 11: 77,844,528 (GRCm39) V117A probably damaging Het
Sgsm2 A C 11: 74,756,250 (GRCm39) C366W probably damaging Het
Slc12a4 T C 8: 106,670,882 (GRCm39) probably null Het
Smg5 C T 3: 88,260,332 (GRCm39) R641C probably damaging Het
Stxbp3 A G 3: 108,723,762 (GRCm39) Y150H probably benign Het
Thoc2l T A 5: 104,668,145 (GRCm39) M889K probably damaging Het
Tkt T C 14: 30,291,041 (GRCm39) F351S probably damaging Het
Tln1 A G 4: 43,547,618 (GRCm39) L781P probably damaging Het
Triobp G A 15: 78,885,765 (GRCm39) E1823K probably damaging Het
Ttll4 T C 1: 74,720,948 (GRCm39) V538A possibly damaging Het
Uba52rt A G 4: 3,973,386 (GRCm39) Y59H probably benign Het
Vmn1r61 T A 7: 5,613,687 (GRCm39) N209I possibly damaging Het
Wdr75 T A 1: 45,844,512 (GRCm39) probably null Het
Zfp985 T C 4: 147,667,528 (GRCm39) V132A probably benign Het
Zswim3 T A 2: 164,662,544 (GRCm39) probably null Het
Other mutations in Nt5c1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Nt5c1b APN 12 10,424,798 (GRCm39) missense probably benign 0.00
IGL01737:Nt5c1b APN 12 10,440,108 (GRCm39) missense possibly damaging 0.93
IGL02114:Nt5c1b APN 12 10,425,444 (GRCm39) missense probably damaging 1.00
IGL02131:Nt5c1b APN 12 10,425,491 (GRCm39) missense possibly damaging 0.75
IGL02135:Nt5c1b APN 12 10,427,194 (GRCm39) missense probably damaging 1.00
IGL02871:Nt5c1b APN 12 10,431,325 (GRCm39) missense probably damaging 1.00
IGL03003:Nt5c1b APN 12 10,424,910 (GRCm39) missense possibly damaging 0.90
IGL03327:Nt5c1b APN 12 10,424,861 (GRCm39) nonsense probably null
R0838:Nt5c1b UTSW 12 10,425,071 (GRCm39) nonsense probably null
R1340:Nt5c1b UTSW 12 10,427,276 (GRCm39) missense probably damaging 1.00
R1480:Nt5c1b UTSW 12 10,424,886 (GRCm39) missense probably damaging 1.00
R1599:Nt5c1b UTSW 12 10,440,024 (GRCm39) missense probably damaging 1.00
R1674:Nt5c1b UTSW 12 10,420,055 (GRCm39) start gained probably benign
R1691:Nt5c1b UTSW 12 10,425,537 (GRCm39) missense possibly damaging 0.95
R2237:Nt5c1b UTSW 12 10,425,558 (GRCm39) missense probably damaging 0.96
R2238:Nt5c1b UTSW 12 10,440,108 (GRCm39) missense probably damaging 1.00
R2238:Nt5c1b UTSW 12 10,425,558 (GRCm39) missense probably damaging 0.96
R2239:Nt5c1b UTSW 12 10,425,558 (GRCm39) missense probably damaging 0.96
R2260:Nt5c1b UTSW 12 10,424,965 (GRCm39) missense probably damaging 1.00
R2424:Nt5c1b UTSW 12 10,420,072 (GRCm39) missense probably damaging 1.00
R3607:Nt5c1b UTSW 12 10,427,236 (GRCm39) missense probably damaging 1.00
R4276:Nt5c1b UTSW 12 10,424,886 (GRCm39) missense probably damaging 1.00
R4582:Nt5c1b UTSW 12 10,440,054 (GRCm39) missense probably damaging 1.00
R4711:Nt5c1b UTSW 12 10,420,093 (GRCm39) missense probably damaging 1.00
R4775:Nt5c1b UTSW 12 10,425,449 (GRCm39) missense probably damaging 1.00
R5840:Nt5c1b UTSW 12 10,427,171 (GRCm39) missense probably damaging 1.00
R5940:Nt5c1b UTSW 12 10,425,515 (GRCm39) missense probably damaging 1.00
R6104:Nt5c1b UTSW 12 10,422,955 (GRCm39) missense probably damaging 1.00
R6329:Nt5c1b UTSW 12 10,422,138 (GRCm39) nonsense probably null
R6626:Nt5c1b UTSW 12 10,424,837 (GRCm39) nonsense probably null
R7424:Nt5c1b UTSW 12 10,431,391 (GRCm39) splice site probably null
R7491:Nt5c1b UTSW 12 10,424,903 (GRCm39) missense probably benign 0.00
R7714:Nt5c1b UTSW 12 10,425,472 (GRCm39) missense probably damaging 1.00
R8008:Nt5c1b UTSW 12 10,425,000 (GRCm39) missense possibly damaging 0.59
R8711:Nt5c1b UTSW 12 10,431,450 (GRCm39) missense probably damaging 1.00
R9302:Nt5c1b UTSW 12 10,430,882 (GRCm39) missense probably damaging 1.00
R9661:Nt5c1b UTSW 12 10,425,450 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATGCTGAAGTTAGGATTGAGCC -3'
(R):5'- CCAGAACAGGGTCTAAACACTTTG -3'

Sequencing Primer
(F):5'- CCTAGACTGAATCAAGGGTCG -3'
(R):5'- GATGGCAGTATTCCTGCT -3'
Posted On 2018-08-01