Incidental Mutation 'R1691:Nt5c1b'
ID 191814
Institutional Source Beutler Lab
Gene Symbol Nt5c1b
Ensembl Gene ENSMUSG00000020622
Gene Name 5'-nucleotidase, cytosolic IB
Synonyms 4921514H13Rik, CN-IB
MMRRC Submission 039724-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1691 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 10419973-10440175 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 10425537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 360 (T360I)
Ref Sequence ENSEMBL: ENSMUSP00000151984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002456] [ENSMUST00000118657] [ENSMUST00000143739] [ENSMUST00000147323] [ENSMUST00000217944] [ENSMUST00000218026] [ENSMUST00000218327] [ENSMUST00000218417] [ENSMUST00000219292] [ENSMUST00000218551] [ENSMUST00000219826] [ENSMUST00000218287] [ENSMUST00000220257] [ENSMUST00000218339] [ENSMUST00000219049] [ENSMUST00000220611] [ENSMUST00000223534]
AlphaFold Q91YE9
Predicted Effect possibly damaging
Transcript: ENSMUST00000002456
AA Change: T302I

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
AA Change: T302I

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: T284I

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
AA Change: T284I

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 probably benign
Transcript: ENSMUST00000143739
SMART Domains Protein: ENSMUSP00000123105
Gene: ENSMUSG00000020622

DomainStartEndE-ValueType
low complexity region 151 163 N/A INTRINSIC
low complexity region 195 203 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000147323
AA Change: T302I

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622
AA Change: T302I

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: T344I

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000218026
Predicted Effect possibly damaging
Transcript: ENSMUST00000218327
AA Change: T284I

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218417
AA Change: T344I

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219292
AA Change: T302I

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218551
AA Change: T286I

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219826
AA Change: T360I

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218287
AA Change: T360I

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220257
AA Change: T360I

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000218339
AA Change: T300I

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
Predicted Effect unknown
Transcript: ENSMUST00000219630
AA Change: T191I
Predicted Effect unknown
Transcript: ENSMUST00000218288
AA Change: T223I
Predicted Effect probably benign
Transcript: ENSMUST00000219049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218148
Predicted Effect possibly damaging
Transcript: ENSMUST00000220611
AA Change: T286I

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000223534
AA Change: T286I

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T C 7: 82,148,814 (GRCm39) S283P probably damaging Het
Adck2 T A 6: 39,551,902 (GRCm39) L223* probably null Het
Ank T C 15: 27,591,030 (GRCm39) W390R probably damaging Het
Ano5 T C 7: 51,240,327 (GRCm39) Y752H probably damaging Het
Apcs T A 1: 172,722,160 (GRCm39) D62V probably damaging Het
Atad5 A G 11: 79,986,358 (GRCm39) T482A probably benign Het
Atp7b A G 8: 22,501,039 (GRCm39) Y955H possibly damaging Het
Ccdc13 A T 9: 121,654,134 (GRCm39) probably null Het
Ccdc157 G A 11: 4,099,030 (GRCm39) P159S probably benign Het
Cdhr3 C T 12: 33,132,246 (GRCm39) V126M probably damaging Het
Cdr1 T C X: 60,227,780 (GRCm39) D462G possibly damaging Het
Cisd1 A G 10: 71,180,559 (GRCm39) V9A probably benign Het
Col19a1 T C 1: 24,576,022 (GRCm39) R107G unknown Het
Col1a2 C A 6: 4,536,038 (GRCm39) H972Q unknown Het
Col3a1 T A 1: 45,387,776 (GRCm39) probably benign Het
Dbnl A G 11: 5,747,174 (GRCm39) S235G probably null Het
Dock4 T A 12: 40,775,754 (GRCm39) S566T probably benign Het
Efcab6 T C 15: 83,817,407 (GRCm39) D722G probably benign Het
Esyt1 T C 10: 128,361,403 (GRCm39) Q97R probably benign Het
Fat2 G A 11: 55,202,678 (GRCm39) T132I probably damaging Het
Fgd2 C T 17: 29,597,918 (GRCm39) Q618* probably null Het
Flnc T A 6: 29,441,213 (GRCm39) V389E probably benign Het
Garnl3 A T 2: 32,887,675 (GRCm39) Y778* probably null Het
Gpaa1 A T 15: 76,216,416 (GRCm39) Y45F probably damaging Het
Grid1 A T 14: 35,174,286 (GRCm39) I643F probably damaging Het
Gsdmc2 T C 15: 63,705,314 (GRCm39) D133G probably damaging Het
Hp T C 8: 110,302,204 (GRCm39) D248G probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifna13 T C 4: 88,562,291 (GRCm39) D111G probably benign Het
Il9r T A 11: 32,141,829 (GRCm39) Q309L possibly damaging Het
Insyn2a C T 7: 134,520,015 (GRCm39) A172T probably damaging Het
Ints1 A T 5: 139,754,687 (GRCm39) D617E probably damaging Het
Kcnj12 A T 11: 60,961,103 (GRCm39) N467I possibly damaging Het
Kmt2e T A 5: 23,669,847 (GRCm39) D111E probably damaging Het
Lama4 A G 10: 38,956,559 (GRCm39) K1161E probably benign Het
Lamc1 C T 1: 153,122,995 (GRCm39) D732N probably benign Het
Larp1 A G 11: 57,938,874 (GRCm39) T517A probably benign Het
Lrp12 A G 15: 39,735,661 (GRCm39) I757T probably damaging Het
Max T C 12: 77,000,046 (GRCm39) D23G possibly damaging Het
Nars1 A T 18: 64,649,485 (GRCm39) probably null Het
Nipsnap3a G A 4: 52,994,185 (GRCm39) D91N probably null Het
Nphp3 A G 9: 103,880,010 (GRCm39) T11A probably benign Het
Nr2c2 C A 6: 92,133,673 (GRCm39) T226K probably damaging Het
Nrxn1 A G 17: 90,469,717 (GRCm39) I1288T probably damaging Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or10a3b A G 7: 108,444,348 (GRCm39) Y290H possibly damaging Het
Or13a21 A T 7: 139,998,855 (GRCm39) L277Q probably damaging Het
Or4e1 A T 14: 52,701,288 (GRCm39) H59Q possibly damaging Het
Or4k37 G A 2: 111,159,198 (GRCm39) V145I probably benign Het
Or6d14 A G 6: 116,533,538 (GRCm39) T51A probably benign Het
Or9i1b C T 19: 13,896,783 (GRCm39) T133I probably benign Het
Pcsk1 A G 13: 75,280,344 (GRCm39) D723G possibly damaging Het
Phrf1 C A 7: 140,841,787 (GRCm39) Y715* probably null Het
Pigm T C 1: 172,204,354 (GRCm39) V30A probably benign Het
Pkd1l2 A T 8: 117,783,158 (GRCm39) F721I possibly damaging Het
Pla2g15 A G 8: 106,881,581 (GRCm39) D70G possibly damaging Het
Prl7d1 A T 13: 27,893,365 (GRCm39) I182N probably damaging Het
Prss23 T C 7: 89,159,922 (GRCm39) K49R probably benign Het
Rps6 A T 4: 86,775,046 (GRCm39) D19E probably benign Het
Slco6d1 A T 1: 98,435,292 (GRCm39) H669L probably benign Het
Svil G T 18: 5,056,336 (GRCm39) C490F probably benign Het
Tom1 T C 8: 75,778,227 (GRCm39) I103T probably damaging Het
Trim10 T A 17: 37,187,791 (GRCm39) Y336N probably damaging Het
Trim43c G T 9: 88,722,752 (GRCm39) V133F probably damaging Het
Tvp23a A G 16: 10,246,551 (GRCm39) L78P possibly damaging Het
Ugt2b38 T A 5: 87,571,991 (GRCm39) I14L probably benign Het
Unc5a A C 13: 55,150,737 (GRCm39) M520L probably damaging Het
Vmn1r174 T A 7: 23,453,337 (GRCm39) M1K probably null Het
Vmn2r58 C T 7: 41,486,913 (GRCm39) G661R possibly damaging Het
Vps41 A C 13: 19,025,413 (GRCm39) D471A probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp462 T A 4: 55,013,489 (GRCm39) F1818L possibly damaging Het
Zp3 G A 5: 136,009,135 (GRCm39) E50K possibly damaging 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
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
R6722:Nt5c1b UTSW 12 10,422,874 (GRCm39) missense possibly damaging 0.48
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'- AGAAGTCCTTCTCAGCCTTACCACC -3'
(R):5'- GCTCCATTGAAGAAAGCCACGATTC -3'

Sequencing Primer
(F):5'- CAGCCTTACCACCTTAGTCC -3'
(R):5'- GCCACGATTCATAATGGCAGATTC -3'
Posted On 2014-05-14