Incidental Mutation 'R9167:Nanp'
ID 696115
Institutional Source Beutler Lab
Gene Symbol Nanp
Ensembl Gene ENSMUSG00000053916
Gene Name N-acetylneuraminic acid phosphatase
Synonyms 1600031M04Rik, Hdhd4
MMRRC Submission 068946-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R9167 (G1)
Quality Score 214.009
Status Validated
Chromosome 2
Chromosomal Location 150871605-150881299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 150872728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 67 (C67S)
Ref Sequence ENSEMBL: ENSMUSP00000063895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066640] [ENSMUST00000128627]
AlphaFold Q9CPT3
Predicted Effect probably benign
Transcript: ENSMUST00000066640
AA Change: C67S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000063895
Gene: ENSMUSG00000053916
AA Change: C67S

DomainStartEndE-ValueType
Pfam:Hydrolase 6 202 1.3e-16 PFAM
Pfam:HAD_2 9 208 8.2e-22 PFAM
Pfam:Hydrolase_like 162 233 1.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128627
SMART Domains Protein: ENSMUSP00000121872
Gene: ENSMUSG00000068115

DomainStartEndE-ValueType
SCOP:d1c07a_ 3 76 3e-7 SMART
PDB:2PMY|B 10 75 1e-6 PDB
Blast:EFh 12 40 4e-12 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C A 11: 119,901,952 (GRCm39) V815F possibly damaging Het
Abcb4 T A 5: 8,986,849 (GRCm39) L756* probably null Het
Acrbp T C 6: 125,039,942 (GRCm39) L515P probably damaging Het
Amot A T X: 144,244,745 (GRCm39) L435H Het
Atic T A 1: 71,604,040 (GRCm39) I201N probably benign Het
Avpr1b T C 1: 131,537,151 (GRCm39) S312P probably damaging Het
Cables1 T C 18: 12,039,029 (GRCm39) V314A possibly damaging Het
Cd22 G A 7: 30,575,430 (GRCm39) T204I probably benign Het
Cep250 A G 2: 155,828,920 (GRCm39) N95D Het
Ctla4 C T 1: 60,951,695 (GRCm39) R75W probably damaging Het
Cul7 A G 17: 46,966,623 (GRCm39) M649V probably benign Het
Ddx46 T A 13: 55,802,915 (GRCm39) V479E probably null Het
Dnah7a T C 1: 53,657,370 (GRCm39) N802S probably benign Het
Fmn2 G T 1: 174,331,056 (GRCm39) R482L unknown Het
Fyn T G 10: 39,402,811 (GRCm39) D194E probably benign Het
Hdac4 G A 1: 91,875,256 (GRCm39) T905M probably benign Het
Herc1 A G 9: 66,411,900 (GRCm39) I4707V possibly damaging Het
Hmgcs2 T C 3: 98,204,430 (GRCm39) I277T possibly damaging Het
Kcnj15 A G 16: 95,096,741 (GRCm39) D121G probably damaging Het
Kcnt2 A G 1: 140,506,200 (GRCm39) E899G probably benign Het
Kif16b A T 2: 142,542,840 (GRCm39) L152* probably null Het
Krt73 A G 15: 101,702,405 (GRCm39) V486A probably benign Het
Lrrc37a T A 11: 103,347,658 (GRCm39) K3012N unknown Het
Musk A T 4: 58,296,687 (GRCm39) I96F probably benign Het
Myrfl A G 10: 116,667,450 (GRCm39) V330A probably damaging Het
Nlrp4e A G 7: 23,039,951 (GRCm39) N758S probably benign Het
Nrxn3 T A 12: 89,154,068 (GRCm39) V345D probably damaging Het
Nsun7 G A 5: 66,435,994 (GRCm39) V289I possibly damaging Het
Or52d1 A G 7: 103,756,426 (GRCm39) *313W probably null Het
Pde4a T C 9: 21,102,798 (GRCm39) S161P probably benign Het
Pom121l2 C T 13: 22,167,160 (GRCm39) A477V probably damaging Het
Rest GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC 5: 77,429,651 (GRCm39) probably benign Het
Ryr3 A T 2: 112,664,398 (GRCm39) I1651N probably damaging Het
Serpinb6e A G 13: 34,023,009 (GRCm39) F125L possibly damaging Het
Slc2a9 T A 5: 38,549,092 (GRCm39) T341S probably damaging Het
Taf3 A G 2: 9,945,804 (GRCm39) V600A probably benign Het
Tasor2 A G 13: 3,624,724 (GRCm39) V1742A probably benign Het
Tlx2 T A 6: 83,046,042 (GRCm39) K211* probably null Het
Tmem266 A G 9: 55,322,231 (GRCm39) D174G probably damaging Het
Tpm3 T A 3: 89,994,824 (GRCm39) I147N probably benign Het
Unc93a T C 17: 13,335,108 (GRCm39) K313E possibly damaging Het
Vmn1r9 A C 6: 57,048,138 (GRCm39) E71A probably benign Het
Vwa2 T A 19: 56,899,063 (GRCm39) D754E probably benign Het
Zfp677 T C 17: 21,613,460 (GRCm39) V18A probably damaging Het
Other mutations in Nanp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0622:Nanp UTSW 2 150,881,164 (GRCm39) missense probably benign 0.00
R1465:Nanp UTSW 2 150,872,749 (GRCm39) missense probably benign
R1465:Nanp UTSW 2 150,872,749 (GRCm39) missense probably benign
R7612:Nanp UTSW 2 150,881,158 (GRCm39) missense probably null 0.19
R7728:Nanp UTSW 2 150,872,835 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- TCAAAGTAAGACTGGCAGGC -3'
(R):5'- TCGCTCCTTCTTAAGACATGAC -3'

Sequencing Primer
(F):5'- CTGTCACCATTTGTTAACAGGAGCAG -3'
(R):5'- CTGTTAAAGACGAGGTATGCTGACC -3'
Posted On 2022-02-07