Incidental Mutation 'R6856:Anp32a'
ID 535263
Institutional Source Beutler Lab
Gene Symbol Anp32a
Ensembl Gene ENSMUSG00000032249
Gene Name acidic (leucine-rich) nuclear phosphoprotein 32 family, member A
Synonyms pp32, Anp32
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6856 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 62341293-62378812 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62372115 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 86 (K86N)
Ref Sequence ENSEMBL: ENSMUSP00000082652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085519] [ENSMUST00000128636] [ENSMUST00000135395]
AlphaFold O35381
PDB Structure Structure of the Leucine-Rich Repeat domain of LANP [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000085519
AA Change: K86N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000082652
Gene: ENSMUSG00000032249
AA Change: K86N

DomainStartEndE-ValueType
Pfam:LRR_4 64 107 5.2e-9 PFAM
Pfam:LRR_8 64 125 1.9e-9 PFAM
LRRcap 128 146 3.19e-2 SMART
coiled coil region 167 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128636
AA Change: K89N

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123574
Gene: ENSMUSG00000032249
AA Change: K89N

DomainStartEndE-ValueType
Pfam:LRR_8 67 128 3.1e-10 PFAM
Pfam:LRR_4 77 111 3e-8 PFAM
Pfam:LRR_6 90 110 7.2e-6 PFAM
Pfam:LRR_7 91 107 9.5e-4 PFAM
Pfam:LRR_1 92 115 1.7e-4 PFAM
LRRcap 131 149 3.19e-2 SMART
coiled coil region 170 198 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135395
AA Change: K72N

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122165
Gene: ENSMUSG00000032249
AA Change: K72N

DomainStartEndE-ValueType
Pfam:LRR_8 50 111 4.9e-10 PFAM
Pfam:LRR_6 73 93 9e-6 PFAM
Pfam:LRR_7 74 90 1.2e-3 PFAM
Pfam:LRR_1 75 98 2.2e-4 PFAM
LRRcap 114 132 3.19e-2 SMART
coiled coil region 153 185 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000115293
Gene: ENSMUSG00000032249
AA Change: K81N

DomainStartEndE-ValueType
Pfam:LRR_9 5 138 8e-13 PFAM
Pfam:LRR_4 60 104 9.7e-10 PFAM
Pfam:LRR_8 60 121 8.6e-10 PFAM
Pfam:LRR_4 84 129 2.8e-9 PFAM
Pfam:LRR_1 85 106 1.4e-3 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice are viable, fertile, behaviorally normal, and show no defects of the central nervous system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A G 3: 151,500,118 M156V probably benign Het
Aire A T 10: 78,030,255 F546I probably damaging Het
Ankk1 T C 9: 49,420,020 E230G probably benign Het
Aqp4 T C 18: 15,399,896 I47V possibly damaging Het
Arap3 A G 18: 37,979,863 V1098A possibly damaging Het
Ascc3 T A 10: 50,749,062 W1652R probably damaging Het
Atad2 T A 15: 58,106,813 H464L probably damaging Het
Brca2 C A 5: 150,540,208 H1146N possibly damaging Het
Capn9 G A 8: 124,597,569 V203M probably damaging Het
Ccr6 T A 17: 8,256,049 S29T probably benign Het
Cfap99 G T 5: 34,310,217 probably null Het
Cpt1c C T 7: 44,959,918 G716S probably damaging Het
Dhx29 A T 13: 112,952,861 Q722L probably benign Het
Dmxl1 C T 18: 49,852,288 R201* probably null Het
Dsg2 G A 18: 20,601,802 G946S probably damaging Het
Erg C A 16: 95,368,651 probably null Het
Fam198b G T 3: 79,886,141 probably benign Het
Fbxo32 G A 15: 58,214,641 probably benign Het
Glis1 T G 4: 107,435,879 D66E probably damaging Het
Gm21671 A G 5: 25,950,845 I167T probably benign Het
Grm6 A T 11: 50,859,825 N605I probably damaging Het
Gtf3c6 T C 10: 40,249,672 E183G probably benign Het
Herc1 A G 9: 66,397,898 M861V probably benign Het
Igkv12-41 A T 6: 69,858,529 S80T probably damaging Het
Kcnt2 T C 1: 140,596,004 S1057P probably damaging Het
Krt36 T G 11: 100,103,390 Q287P probably damaging Het
Ldhd A G 8: 111,630,274 S13P probably benign Het
Lmtk3 T A 7: 45,794,297 probably benign Het
Lrp2 A T 2: 69,513,268 F916I probably damaging Het
Map4k1 A T 7: 28,986,834 I92F probably damaging Het
Naa25 A T 5: 121,438,804 K872M probably damaging Het
Nek3 C A 8: 22,129,447 G443V probably damaging Het
Noxred1 T C 12: 87,227,036 E77G probably benign Het
Nup210 G A 6: 91,087,913 Q202* probably null Het
Olfr1065 G T 2: 86,445,907 S25Y probably benign Het
Olfr646 A T 7: 104,106,791 M171L probably benign Het
Pax3 A G 1: 78,132,419 S201P probably damaging Het
Pcdhgb5 T A 18: 37,733,404 Y751N probably benign Het
Pign A T 1: 105,553,895 L792* probably null Het
Pkd1 T C 17: 24,573,493 F1385L probably benign Het
Plxnb2 A C 15: 89,164,320 C629G probably benign Het
Prpsap2 A T 11: 61,730,271 I328N probably benign Het
Prrc2c A G 1: 162,682,371 L2317P probably damaging Het
Ptgfrn T C 3: 101,045,446 D824G probably damaging Het
Ptpra G A 2: 130,519,381 S204N probably damaging Het
Pygm G T 19: 6,393,757 G583C probably damaging Het
Rap1a A G 3: 105,732,068 F92L probably damaging Het
Slmap A T 14: 26,430,092 probably null Het
Spdye4c A G 2: 128,596,130 probably null Het
Ssfa2 C T 2: 79,657,705 R711C probably damaging Het
Stk11 C A 10: 80,128,090 F97L probably benign Het
Tbc1d9b G A 11: 50,168,746 A992T probably benign Het
Tmem232 G A 17: 65,450,310 T296M possibly damaging Het
Trim33 C T 3: 103,352,049 T1018M probably damaging Het
Trpv2 A C 11: 62,584,615 I285L probably benign Het
Usp46 A G 5: 74,028,934 probably benign Het
Vmn1r27 T A 6: 58,215,447 M191L possibly damaging Het
Vwf G T 6: 125,642,150 E1264* probably null Het
Zfp109 A T 7: 24,229,398 N195K probably benign Het
Zfp385b T A 2: 77,415,794 L208F probably damaging Het
Zfp839 T A 12: 110,866,761 Y515* probably null Het
Other mutations in Anp32a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Anp32a APN 9 62371712 splice site probably benign
IGL01799:Anp32a APN 9 62371810 missense probably benign 0.06
IGL02066:Anp32a APN 9 62377333 unclassified probably benign
IGL02536:Anp32a APN 9 62371828 missense probably damaging 0.98
R1608:Anp32a UTSW 9 62372093 missense probably damaging 0.99
R2149:Anp32a UTSW 9 62371802 missense probably benign 0.19
R5287:Anp32a UTSW 9 62341993 missense possibly damaging 0.50
R5381:Anp32a UTSW 9 62372177 missense probably damaging 0.97
R5403:Anp32a UTSW 9 62341993 missense possibly damaging 0.50
R5427:Anp32a UTSW 9 62377316 unclassified probably benign
R6906:Anp32a UTSW 9 62377569 unclassified probably benign
R7949:Anp32a UTSW 9 62373666 missense unknown
R8134:Anp32a UTSW 9 62377581 missense unknown
R9501:Anp32a UTSW 9 62374737 missense unknown
Predicted Primers PCR Primer
(F):5'- AGGTGCTTGCTTCAACTTGC -3'
(R):5'- TGGTCCAACTGAATTCTCCGTG -3'

Sequencing Primer
(F):5'- GCTTCAACTTGCTGGCAG -3'
(R):5'- CTGAATTCTCCGTGAACTAAGCAG -3'
Posted On 2018-09-12