Incidental Mutation 'R3822:Anp32e'
ID 275217
Institutional Source Beutler Lab
Gene Symbol Anp32e
Ensembl Gene ENSMUSG00000015749
Gene Name acidic nuclear phosphoprotein 32 family member E
Synonyms LANP-L, CPD1, 2810018A15Rik
MMRRC Submission 040884-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3822 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 95836557-95854699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95842181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 100 (I100L)
Ref Sequence ENSEMBL: ENSMUSP00000128483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015893] [ENSMUST00000165307] [ENSMUST00000167876] [ENSMUST00000168106] [ENSMUST00000169426] [ENSMUST00000170125] [ENSMUST00000171035] [ENSMUST00000170213] [ENSMUST00000171368]
AlphaFold P97822
Predicted Effect probably benign
Transcript: ENSMUST00000015893
AA Change: I100L

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000015893
Gene: ENSMUSG00000015749
AA Change: I100L

DomainStartEndE-ValueType
Pfam:LRR_8 64 125 5.2e-11 PFAM
Pfam:LRR_6 87 111 4.6e-6 PFAM
Pfam:LRR_7 88 104 5.6e-4 PFAM
Pfam:LRR_1 89 112 4e-4 PFAM
LRRcap 128 146 1.59e-2 SMART
low complexity region 157 229 N/A INTRINSIC
low complexity region 238 248 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165307
AA Change: I100L

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000128483
Gene: ENSMUSG00000015749
AA Change: I100L

DomainStartEndE-ValueType
Pfam:LRR_8 64 125 1.8e-9 PFAM
LRRcap 128 146 1.59e-2 SMART
low complexity region 151 209 N/A INTRINSIC
low complexity region 216 240 N/A INTRINSIC
low complexity region 250 260 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167876
AA Change: I52L

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000132580
Gene: ENSMUSG00000015749
AA Change: I52L

DomainStartEndE-ValueType
Pfam:LRR_8 16 77 7.4e-11 PFAM
Pfam:LRR_6 39 63 9.8e-6 PFAM
Pfam:LRR_7 40 56 1.5e-3 PFAM
Pfam:LRR_1 41 64 9.1e-4 PFAM
LRRcap 80 98 1.59e-2 SMART
low complexity region 103 161 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168106
SMART Domains Protein: ENSMUSP00000132357
Gene: ENSMUSG00000015749

DomainStartEndE-ValueType
low complexity region 63 75 N/A INTRINSIC
LRRcap 87 105 1.59e-2 SMART
low complexity region 110 168 N/A INTRINSIC
low complexity region 175 199 N/A INTRINSIC
low complexity region 209 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169426
SMART Domains Protein: ENSMUSP00000142810
Gene: ENSMUSG00000015749

DomainStartEndE-ValueType
low complexity region 27 51 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170125
SMART Domains Protein: ENSMUSP00000129931
Gene: ENSMUSG00000015749

DomainStartEndE-ValueType
PDB:2JQD|A 1 58 6e-17 PDB
low complexity region 68 109 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171035
AA Change: I52L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000128298
Gene: ENSMUSG00000015749
AA Change: I52L

DomainStartEndE-ValueType
Pfam:LRR_8 16 77 2.2e-11 PFAM
Pfam:LRR_6 39 63 3.4e-6 PFAM
Pfam:LRR_7 40 56 4.8e-4 PFAM
Pfam:LRR_1 41 64 2.9e-4 PFAM
LRRcap 80 98 1.59e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170213
Predicted Effect probably benign
Transcript: ENSMUST00000171368
SMART Domains Protein: ENSMUSP00000130599
Gene: ENSMUSG00000015749

DomainStartEndE-ValueType
low complexity region 28 86 N/A INTRINSIC
low complexity region 93 117 N/A INTRINSIC
low complexity region 127 137 N/A INTRINSIC
Meta Mutation Damage Score 0.2017 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (34/34)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit mild neurological deficits. Mice homozygous for a knock-out allele are phenotypically normal. [provided by MGI curators]
Allele List at MGI

All alleles(28) : Targeted, other(2) Gene trapped(26)

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T A 11: 101,301,971 (GRCm39) I332F probably damaging Het
Acp3 G T 9: 104,201,916 (GRCm39) Q76K probably damaging Het
Ccdc13 C A 9: 121,660,085 (GRCm39) L76F probably damaging Het
Cd44 T C 2: 102,731,738 (GRCm39) probably null Het
Chka A G 19: 3,932,038 (GRCm39) probably benign Het
Cnot6 A T 11: 49,579,999 (GRCm39) S98T probably benign Het
Cth A G 3: 157,624,136 (GRCm39) F127S probably benign Het
Dnah9 C A 11: 65,741,829 (GRCm39) probably null Het
Dysf T C 6: 84,184,070 (GRCm39) probably benign Het
Flad1 T A 3: 89,318,494 (GRCm39) I20F probably damaging Het
Gm20730 C T 6: 43,058,656 (GRCm39) S52N probably benign Het
Gpr89 A G 3: 96,800,260 (GRCm39) S113P probably benign Het
Herpud2 G A 9: 25,036,220 (GRCm39) Q147* probably null Het
Hivep1 A T 13: 42,337,787 (GRCm39) H2622L possibly damaging Het
Hlcs T C 16: 94,068,840 (GRCm39) N274D probably benign Het
Ido2 T C 8: 25,023,771 (GRCm39) I356V probably benign Het
Insyn2b T C 11: 34,353,007 (GRCm39) S350P probably benign Het
Itgam A G 7: 127,711,458 (GRCm39) probably null Het
Lama1 C A 17: 68,086,041 (GRCm39) probably null Het
Lrrc4b T A 7: 44,111,982 (GRCm39) V618E probably damaging Het
Man1a2 A G 3: 100,539,913 (GRCm39) I176T possibly damaging Het
Mns1 A G 9: 72,346,730 (GRCm39) E71G probably damaging Het
Ncoa6 T A 2: 155,248,858 (GRCm39) N1482I probably damaging Het
Neto2 C A 8: 86,389,924 (GRCm39) E180* probably null Het
Psmb7 A T 2: 38,503,440 (GRCm39) probably benign Het
Rin2 C T 2: 145,664,550 (GRCm39) T60M probably benign Het
Slc28a3 A G 13: 58,706,092 (GRCm39) V639A probably benign Het
Tenm2 A T 11: 35,915,147 (GRCm39) I2129N probably damaging Het
Topaz1 A G 9: 122,626,848 (GRCm39) D1492G possibly damaging Het
Trank1 G A 9: 111,207,887 (GRCm39) G1711R probably damaging Het
Trpm1 A G 7: 63,867,451 (GRCm39) probably benign Het
Ugt1a6a T A 1: 88,066,251 (GRCm39) V19E probably benign Het
Vmn2r60 A T 7: 41,785,125 (GRCm39) E112D probably damaging Het
Wdr4 T G 17: 31,731,195 (GRCm39) Q55P probably damaging Het
Xpnpep1 G A 19: 52,992,250 (GRCm39) probably benign Het
Zfyve16 A T 13: 92,657,769 (GRCm39) L714Q probably damaging Het
Other mutations in Anp32e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02719:Anp32e APN 3 95,845,224 (GRCm39) unclassified probably benign
IGL03197:Anp32e APN 3 95,844,364 (GRCm39) missense probably damaging 1.00
3-1:Anp32e UTSW 3 95,852,551 (GRCm39) utr 3 prime probably benign
R0926:Anp32e UTSW 3 95,844,454 (GRCm39) missense probably damaging 1.00
R3821:Anp32e UTSW 3 95,842,181 (GRCm39) missense probably benign 0.19
R6645:Anp32e UTSW 3 95,844,414 (GRCm39) missense probably damaging 1.00
R8193:Anp32e UTSW 3 95,836,710 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GGAGCCATGCCACAGATAAG -3'
(R):5'- AGCCCAGCTGGACAGTTTAG -3'

Sequencing Primer
(F):5'- TGCCACAGATAAGCCACTG -3'
(R):5'- CCCAGCTGGACAGTTTAGTTAAAG -3'
Posted On 2015-04-02