Incidental Mutation 'R9391:Npdc1'
ID 710579
Institutional Source Beutler Lab
Gene Symbol Npdc1
Ensembl Gene ENSMUSG00000015094
Gene Name neural proliferation, differentiation and control 1
Synonyms NPDC-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9391 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 25293062-25299506 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25297979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 176 (M176K)
Ref Sequence ENSEMBL: ENSMUSP00000071387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055921] [ENSMUST00000071442] [ENSMUST00000133409] [ENSMUST00000141567] [ENSMUST00000154809]
AlphaFold Q64322
Predicted Effect probably damaging
Transcript: ENSMUST00000055921
AA Change: M185K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049602
Gene: ENSMUSG00000015094
AA Change: M185K

DomainStartEndE-ValueType
Pfam:NPDC1 1 341 9.1e-234 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000071442
AA Change: M176K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000071387
Gene: ENSMUSG00000015094
AA Change: M176K

DomainStartEndE-ValueType
Pfam:NPDC1 1 332 7.2e-217 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000133409
AA Change: M108K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117773
Gene: ENSMUSG00000015094
AA Change: M108K

DomainStartEndE-ValueType
Pfam:NPDC1 1 274 3.4e-163 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000141567
AA Change: M175K

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116275
Gene: ENSMUSG00000015094
AA Change: M175K

DomainStartEndE-ValueType
Pfam:NPDC1 1 231 7.8e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154809
SMART Domains Protein: ENSMUSP00000123386
Gene: ENSMUSG00000015094

DomainStartEndE-ValueType
Pfam:NPDC1 1 142 1.8e-88 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display no obvious abnormalities in viability, fertility, behavior, or brain morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,178,542 (GRCm39) T1144A probably benign Het
Adam32 C T 8: 25,374,472 (GRCm39) E507K probably damaging Het
Adgrf3 T C 5: 30,400,071 (GRCm39) E974G possibly damaging Het
Agbl1 A G 7: 76,071,602 (GRCm39) E560G unknown Het
Ank2 A T 3: 126,731,394 (GRCm39) H671Q probably damaging Het
Asic5 C T 3: 81,928,366 (GRCm39) T485M probably benign Het
Bco2 T C 9: 50,446,022 (GRCm39) probably null Het
C1qtnf6 A G 15: 78,415,516 (GRCm39) C23R unknown Het
Ccdc18 T C 5: 108,376,770 (GRCm39) F1404L probably benign Het
Cfap46 A T 7: 139,198,027 (GRCm39) I2107N unknown Het
Cfap97d1 G T 11: 101,881,655 (GRCm39) R117I probably benign Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Cpb2 A C 14: 75,508,136 (GRCm39) Q199P probably damaging Het
Dnah7b T A 1: 46,272,914 (GRCm39) Y2347* probably null Het
Dyrk1a T A 16: 94,460,373 (GRCm39) C10S possibly damaging Het
F2r A T 13: 95,740,656 (GRCm39) V293D probably damaging Het
Gm28363 G A 1: 117,626,629 (GRCm39) W22* probably null Het
Hira T C 16: 18,767,892 (GRCm39) S696P possibly damaging Het
Klhl2 A G 8: 65,275,684 (GRCm39) V73A probably damaging Het
Lalba A T 15: 98,380,417 (GRCm39) W46R probably damaging Het
Map3k13 C A 16: 21,740,665 (GRCm39) T664N probably benign Het
Ncor1 T A 11: 62,216,376 (GRCm39) K1166* probably null Het
Obscn A G 11: 58,964,408 (GRCm39) S3045P probably damaging Het
Or13a20 G A 7: 140,232,272 (GRCm39) A127T probably damaging Het
Plekhg4 G C 8: 106,106,043 (GRCm39) K813N probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prdm12 G A 2: 31,544,162 (GRCm39) R255H probably benign Het
Rbbp8 T C 18: 11,854,990 (GRCm39) I405T possibly damaging Het
Sctr A G 1: 119,983,178 (GRCm39) T328A probably benign Het
Sec63 T A 10: 42,681,101 (GRCm39) S362T probably benign Het
Sgsm2 A G 11: 74,744,630 (GRCm39) L818P probably damaging Het
Shprh G A 10: 11,038,633 (GRCm39) V463I probably benign Het
Smyd5 T C 6: 85,418,739 (GRCm39) F241S probably damaging Het
Tax1bp1 T A 6: 52,735,220 (GRCm39) Y680* probably null Het
Tbc1d17 A G 7: 44,494,683 (GRCm39) S212P probably damaging Het
Tle1 A T 4: 72,116,159 (GRCm39) V62E probably damaging Het
Tnfaip3 G T 10: 18,883,075 (GRCm39) N163K probably damaging Het
Trim8 T A 19: 46,503,955 (GRCm39) Y502* probably null Het
Trip12 A T 1: 84,773,473 (GRCm39) F54L probably benign Het
Trpc2 T A 7: 101,745,067 (GRCm39) L761Q probably damaging Het
Vps41 A T 13: 18,994,616 (GRCm39) E154D probably benign Het
Other mutations in Npdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01654:Npdc1 APN 2 25,297,649 (GRCm39) missense possibly damaging 0.61
IGL02023:Npdc1 APN 2 25,298,032 (GRCm39) unclassified probably benign
IGL02894:Npdc1 APN 2 25,298,007 (GRCm39) missense probably benign 0.04
danke UTSW 2 25,296,257 (GRCm39) missense probably damaging 1.00
R0650:Npdc1 UTSW 2 25,298,021 (GRCm39) missense probably benign 0.16
R1136:Npdc1 UTSW 2 25,297,727 (GRCm39) missense probably benign 0.09
R4008:Npdc1 UTSW 2 25,298,992 (GRCm39) nonsense probably null
R4724:Npdc1 UTSW 2 25,298,957 (GRCm39) missense probably damaging 1.00
R4725:Npdc1 UTSW 2 25,298,957 (GRCm39) missense probably damaging 1.00
R4726:Npdc1 UTSW 2 25,298,957 (GRCm39) missense probably damaging 1.00
R4728:Npdc1 UTSW 2 25,298,957 (GRCm39) missense probably damaging 1.00
R4836:Npdc1 UTSW 2 25,298,957 (GRCm39) missense probably damaging 1.00
R4843:Npdc1 UTSW 2 25,298,957 (GRCm39) missense probably damaging 1.00
R4882:Npdc1 UTSW 2 25,298,957 (GRCm39) missense probably damaging 1.00
R5108:Npdc1 UTSW 2 25,298,667 (GRCm39) missense probably damaging 1.00
R5393:Npdc1 UTSW 2 25,298,682 (GRCm39) missense probably damaging 1.00
R5572:Npdc1 UTSW 2 25,298,957 (GRCm39) missense probably damaging 1.00
R5573:Npdc1 UTSW 2 25,298,957 (GRCm39) missense probably damaging 1.00
R5574:Npdc1 UTSW 2 25,298,957 (GRCm39) missense probably damaging 1.00
R5605:Npdc1 UTSW 2 25,298,957 (GRCm39) missense probably damaging 1.00
R5630:Npdc1 UTSW 2 25,298,957 (GRCm39) missense probably damaging 1.00
R5632:Npdc1 UTSW 2 25,298,957 (GRCm39) missense probably damaging 1.00
R5655:Npdc1 UTSW 2 25,297,692 (GRCm39) missense possibly damaging 0.71
R6823:Npdc1 UTSW 2 25,299,121 (GRCm39) missense probably damaging 1.00
R7151:Npdc1 UTSW 2 25,299,120 (GRCm39) missense probably damaging 0.98
R7400:Npdc1 UTSW 2 25,296,257 (GRCm39) missense probably damaging 1.00
R8777:Npdc1 UTSW 2 25,298,129 (GRCm39) missense probably damaging 0.98
R8777-TAIL:Npdc1 UTSW 2 25,298,129 (GRCm39) missense probably damaging 0.98
R9233:Npdc1 UTSW 2 25,296,329 (GRCm39) missense probably damaging 1.00
R9570:Npdc1 UTSW 2 25,298,312 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- AAAGGCCAAGTCCTGCTGAC -3'
(R):5'- AACTGGAGTCTGAAGCTCAC -3'

Sequencing Primer
(F):5'- TGCTGACTACATGTATATACCCGAC -3'
(R):5'- TGGAGTCTGAAGCTCACCTACAC -3'
Posted On 2022-04-18