Incidental Mutation 'R7984:Nt5dc2'
ID 651391
Institutional Source Beutler Lab
Gene Symbol Nt5dc2
Ensembl Gene ENSMUSG00000071547
Gene Name 5'-nucleotidase domain containing 2
Synonyms 2510015F01Rik
MMRRC Submission 046025-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7984 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 30853046-30861081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30860775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 317 (S317G)
Ref Sequence ENSEMBL: ENSMUSP00000087680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036618] [ENSMUST00000090212] [ENSMUST00000159249] [ENSMUST00000160024] [ENSMUST00000226588] [ENSMUST00000227096] [ENSMUST00000227794]
AlphaFold A0A2I3BR81
Predicted Effect probably benign
Transcript: ENSMUST00000036618
SMART Domains Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
EGF 112 149 6.65e-2 SMART
EGF 160 194 2.28e0 SMART
EGF 199 232 1.4e0 SMART
EGF 236 272 4.97e-1 SMART
EGF 276 319 1.95e1 SMART
EGF_like 321 357 5.03e1 SMART
low complexity region 400 413 N/A INTRINSIC
Blast:FAS1 414 501 2e-52 BLAST
FAS1 543 645 1.35e-24 SMART
EGF_like 780 817 5.45e1 SMART
EGF 822 861 1.08e-1 SMART
EGF 865 904 3.15e-3 SMART
EGF 908 947 1.3e1 SMART
EGF 951 989 1.47e1 SMART
FAS1 1023 1122 1.3e-17 SMART
FAS1 1165 1257 2.94e0 SMART
EGF 1332 1369 1.4e0 SMART
EGF 1379 1413 1.88e-1 SMART
EGF 1420 1455 6.02e0 SMART
EGF 1459 1497 3.82e-2 SMART
EGF 1501 1540 2.05e-2 SMART
EGF 1544 1583 2.25e1 SMART
FAS1 1616 1712 1.61e-22 SMART
FAS1 1763 1868 2.12e-17 SMART
EGF 1970 2007 1.26e-2 SMART
EGF 2017 2051 1.61e0 SMART
EGF 2059 2090 2.45e0 SMART
EGF 2094 2131 3.46e0 SMART
EGF 2135 2174 3.82e-2 SMART
LINK 2206 2301 8.55e-49 SMART
FAS1 2367 2462 2.06e-6 SMART
transmembrane domain 2476 2498 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000090212
AA Change: S317G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087680
Gene: ENSMUSG00000071547
AA Change: S317G

DomainStartEndE-ValueType
Pfam:5_nucleotid 1 367 1.5e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159249
SMART Domains Protein: ENSMUSP00000125542
Gene: ENSMUSG00000042286

DomainStartEndE-ValueType
EGF 110 147 1.26e-2 SMART
EGF 157 191 1.61e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160024
SMART Domains Protein: ENSMUSP00000125239
Gene: ENSMUSG00000042286

DomainStartEndE-ValueType
Blast:FAS1 1 32 5e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000226588
Predicted Effect probably damaging
Transcript: ENSMUST00000226975
AA Change: S390G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000227096
AA Change: S480G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227794
AA Change: S420G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1e1 G T 13: 4,645,679 (GRCm39) H226N probably damaging Het
Aldh1a7 T C 19: 20,686,764 (GRCm39) D283G probably damaging Het
Angel1 T C 12: 86,767,068 (GRCm39) D436G probably benign Het
Ank1 G A 8: 23,578,982 (GRCm39) R314Q probably damaging Het
Apbb2 T C 5: 66,465,035 (GRCm39) E629G probably damaging Het
Card9 T G 2: 26,246,784 (GRCm39) I355L probably benign Het
Cdon C T 9: 35,414,598 (GRCm39) P1158S probably benign Het
Cpne7 T G 8: 123,846,461 (GRCm39) V91G possibly damaging Het
Dlc1 T A 8: 37,405,472 (GRCm39) T106S possibly damaging Het
Dnah1 A T 14: 30,989,772 (GRCm39) F3248Y probably damaging Het
Dnah7a A T 1: 53,543,377 (GRCm39) D2264E probably benign Het
Dock7 A T 4: 98,877,303 (GRCm39) N1078K unknown Het
Emc1 T A 4: 139,102,760 (GRCm39) L973H probably damaging Het
Fer1l5 T A 1: 36,447,702 (GRCm39) L955Q possibly damaging Het
Fpr-rs7 T C 17: 20,333,671 (GRCm39) N273S probably benign Het
Gle1 T A 2: 29,828,588 (GRCm39) Y137N probably damaging Het
Grik4 G A 9: 42,582,557 (GRCm39) Q130* probably null Het
Hcn1 C T 13: 118,112,609 (GRCm39) Q858* probably null Het
Heg1 A C 16: 33,583,945 (GRCm39) S76R possibly damaging Het
Ikbke T A 1: 131,203,523 (GRCm39) E50V probably null Het
Itga5 G A 15: 103,264,379 (GRCm39) P297S probably damaging Het
Kcng1 C A 2: 168,104,406 (GRCm39) R480L possibly damaging Het
Kdm3b G T 18: 34,956,752 (GRCm39) E1236* probably null Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Lrp5 A G 19: 3,662,342 (GRCm39) F894L probably damaging Het
Lrrk1 T C 7: 65,950,477 (GRCm39) probably null Het
Man2a2 T G 7: 80,003,056 (GRCm39) T1018P probably damaging Het
Mctp2 T C 7: 71,752,937 (GRCm39) Q772R possibly damaging Het
Meioc T A 11: 102,565,432 (GRCm39) N293K possibly damaging Het
Mrps24 A T 11: 5,657,495 (GRCm39) C34S possibly damaging Het
Nek1 G T 8: 61,574,087 (GRCm39) E1112* probably null Het
Obscn G T 11: 58,997,151 (GRCm39) Q1492K possibly damaging Het
Or2a57 T G 6: 43,212,730 (GRCm39) S63A probably damaging Het
Or52e4 T C 7: 104,705,639 (GRCm39) F62S probably damaging Het
Or6c69 A G 10: 129,747,941 (GRCm39) F69L probably benign Het
Or8b36 A G 9: 37,937,155 (GRCm39) T18A probably damaging Het
Or9m1b T A 2: 87,836,969 (GRCm39) N42I probably damaging Het
Or9s23 A G 1: 92,501,144 (GRCm39) I84V probably benign Het
P2ry12 T A 3: 59,125,022 (GRCm39) I218F probably damaging Het
Paip1 C T 13: 119,566,698 (GRCm39) Q11* probably null Het
Pcdhga3 C A 18: 37,809,549 (GRCm39) D667E probably benign Het
Pcnx2 T G 8: 126,485,865 (GRCm39) E1911A probably benign Het
Pibf1 T C 14: 99,459,063 (GRCm39) L678P probably damaging Het
Pira2 A T 7: 3,844,696 (GRCm39) F445Y probably benign Het
Prickle2 T C 6: 92,387,855 (GRCm39) T516A probably benign Het
Prl2c1 G A 13: 28,039,310 (GRCm39) probably null Het
Rnf112 A G 11: 61,340,306 (GRCm39) V656A possibly damaging Het
Siglecf A C 7: 43,004,655 (GRCm39) probably null Het
Slc24a1 A T 9: 64,856,811 (GRCm39) L32* probably null Het
Slc7a1 A G 5: 148,278,920 (GRCm39) V284A possibly damaging Het
Slco5a1 T A 1: 12,951,608 (GRCm39) H565L probably damaging Het
Slit2 A G 5: 48,333,465 (GRCm39) probably benign Het
Sulf1 A G 1: 12,929,497 (GRCm39) T255A probably benign Het
Tmem130 C T 5: 144,692,237 (GRCm39) G56R possibly damaging Het
Trmt1l A C 1: 151,311,489 (GRCm39) Q116H probably benign Het
Ttn A T 2: 76,554,094 (GRCm39) W30870R probably damaging Het
Unc13b A T 4: 43,173,973 (GRCm39) L1600F unknown Het
Vmn1r233 C T 17: 21,214,417 (GRCm39) V178M probably damaging Het
Vmn2r18 G A 5: 151,485,526 (GRCm39) P656L probably damaging Het
Vmn2r33 A T 7: 7,566,862 (GRCm39) D83E probably benign Het
Vps13b G A 15: 35,880,059 (GRCm39) V3045I probably benign Het
Wdr25 A T 12: 108,976,983 (GRCm39) probably null Het
Xpo6 A G 7: 125,719,616 (GRCm39) V591A probably benign Het
Other mutations in Nt5dc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Earthen UTSW 14 30,860,832 (GRCm39) missense probably damaging 1.00
Shard UTSW 14 30,860,878 (GRCm39) missense possibly damaging 0.61
R1782:Nt5dc2 UTSW 14 30,860,158 (GRCm39) missense probably damaging 1.00
R3974:Nt5dc2 UTSW 14 30,860,832 (GRCm39) missense probably damaging 1.00
R3975:Nt5dc2 UTSW 14 30,860,832 (GRCm39) missense probably damaging 1.00
R3976:Nt5dc2 UTSW 14 30,860,832 (GRCm39) missense probably damaging 1.00
R4542:Nt5dc2 UTSW 14 30,860,095 (GRCm39) missense probably benign 0.29
R4677:Nt5dc2 UTSW 14 30,860,878 (GRCm39) missense possibly damaging 0.61
R4953:Nt5dc2 UTSW 14 30,860,878 (GRCm39) missense possibly damaging 0.61
R5092:Nt5dc2 UTSW 14 30,860,989 (GRCm39) missense possibly damaging 0.86
R6523:Nt5dc2 UTSW 14 30,857,662 (GRCm39) missense probably damaging 1.00
R8083:Nt5dc2 UTSW 14 30,856,783 (GRCm39) missense probably damaging 1.00
R8165:Nt5dc2 UTSW 14 30,860,886 (GRCm39) missense probably damaging 1.00
R9108:Nt5dc2 UTSW 14 30,857,016 (GRCm39) nonsense probably null
R9224:Nt5dc2 UTSW 14 30,857,665 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- ATCAGGATGCAGAGTCACGG -3'
(R):5'- AAGGGTGTCTTCATGCAGC -3'

Sequencing Primer
(F):5'- TGCTGGCTACCTGGATGAAG -3'
(R):5'- TGTCTTCATGCAGCCAGTG -3'
Posted On 2020-09-15