Incidental Mutation 'IGL00571:Nacc2'
ID 7258
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nacc2
Ensembl Gene ENSMUSG00000026932
Gene Name nucleus accumbens associated 2, BEN and BTB (POZ) domain containing
Synonyms 0610020I02Rik, Btbd14a, C030048H19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00571
Quality Score
Status
Chromosome 2
Chromosomal Location 25945547-26012823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25979702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 245 (T245A)
Ref Sequence ENSEMBL: ENSMUSP00000109796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028300] [ENSMUST00000114159] [ENSMUST00000140993]
AlphaFold Q9DCM7
Predicted Effect probably benign
Transcript: ENSMUST00000028300
AA Change: T245A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028300
Gene: ENSMUSG00000026932
AA Change: T245A

DomainStartEndE-ValueType
BTB 30 124 8.41e-23 SMART
low complexity region 198 213 N/A INTRINSIC
low complexity region 264 271 N/A INTRINSIC
BEN 371 449 4.33e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114159
AA Change: T245A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109796
Gene: ENSMUSG00000026932
AA Change: T245A

DomainStartEndE-ValueType
BTB 30 124 8.41e-23 SMART
low complexity region 198 213 N/A INTRINSIC
low complexity region 264 271 N/A INTRINSIC
BEN 371 449 4.33e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133212
Predicted Effect probably benign
Transcript: ENSMUST00000140993
SMART Domains Protein: ENSMUSP00000120198
Gene: ENSMUSG00000026932

DomainStartEndE-ValueType
Pfam:BTB 20 85 1.3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152133
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T G 11: 76,359,566 (GRCm39) S180R probably benign Het
Atrn G T 2: 130,836,968 (GRCm39) R1144L probably damaging Het
Dsc1 G T 18: 20,243,195 (GRCm39) S86Y probably damaging Het
Ets2 C A 16: 95,513,185 (GRCm39) N120K probably benign Het
Fas A T 19: 34,296,018 (GRCm39) T154S probably damaging Het
Fbxo41 T C 6: 85,455,084 (GRCm39) probably null Het
Fzd8 A T 18: 9,213,068 (GRCm39) Y50F unknown Het
Hmcn1 C T 1: 150,514,750 (GRCm39) V3541I probably benign Het
Il6st G A 13: 112,624,394 (GRCm39) V215M probably damaging Het
Kif13b G A 14: 64,983,866 (GRCm39) V581M probably damaging Het
Liph A G 16: 21,786,890 (GRCm39) F242S probably damaging Het
Nlrp1b C T 11: 71,054,799 (GRCm39) D889N probably null Het
Parp4 T A 14: 56,884,810 (GRCm39) S1296R unknown Het
Prr23a4 A C 9: 98,785,739 (GRCm39) T135P possibly damaging Het
Sec24a G A 11: 51,627,331 (GRCm39) Q194* probably null Het
Slco6c1 T C 1: 97,015,676 (GRCm39) N372D probably benign Het
Sprr2a3 T A 3: 92,196,074 (GRCm39) Y60* probably null Het
Tdrd6 T A 17: 43,939,051 (GRCm39) I666F probably damaging Het
Tlr1 T C 5: 65,083,777 (GRCm39) I267V probably benign Het
Tmtc2 A G 10: 105,157,307 (GRCm39) I633T possibly damaging Het
Ttc33 A G 15: 5,246,809 (GRCm39) D205G probably damaging Het
Uspl1 A G 5: 149,125,170 (GRCm39) K26E probably damaging Het
Zfp639 A G 3: 32,574,068 (GRCm39) D231G probably damaging Het
Other mutations in Nacc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Nacc2 APN 2 25,951,678 (GRCm39) missense probably damaging 1.00
IGL02122:Nacc2 APN 2 25,979,960 (GRCm39) missense probably benign 0.04
IGL02836:Nacc2 APN 2 25,980,329 (GRCm39) missense probably damaging 1.00
IGL03355:Nacc2 APN 2 25,952,249 (GRCm39) missense probably damaging 1.00
R0239:Nacc2 UTSW 2 25,952,273 (GRCm39) missense probably damaging 1.00
R0239:Nacc2 UTSW 2 25,952,273 (GRCm39) missense probably damaging 1.00
R0326:Nacc2 UTSW 2 25,950,345 (GRCm39) missense probably damaging 1.00
R0553:Nacc2 UTSW 2 25,979,602 (GRCm39) missense possibly damaging 0.75
R1743:Nacc2 UTSW 2 25,950,155 (GRCm39) missense probably benign
R2172:Nacc2 UTSW 2 25,950,235 (GRCm39) missense probably benign 0.00
R2497:Nacc2 UTSW 2 25,979,580 (GRCm39) nonsense probably null
R4027:Nacc2 UTSW 2 25,950,348 (GRCm39) missense probably benign 0.11
R4724:Nacc2 UTSW 2 25,980,185 (GRCm39) missense probably damaging 1.00
R5045:Nacc2 UTSW 2 25,980,150 (GRCm39) splice site probably null
R5151:Nacc2 UTSW 2 25,980,365 (GRCm39) missense probably damaging 1.00
R5198:Nacc2 UTSW 2 25,950,346 (GRCm39) missense probably benign 0.22
R5905:Nacc2 UTSW 2 25,951,590 (GRCm39) missense probably damaging 1.00
R6028:Nacc2 UTSW 2 25,951,590 (GRCm39) missense probably damaging 1.00
R6257:Nacc2 UTSW 2 25,950,420 (GRCm39) missense probably damaging 1.00
R6924:Nacc2 UTSW 2 25,980,041 (GRCm39) missense probably damaging 0.97
R8263:Nacc2 UTSW 2 25,952,240 (GRCm39) missense probably damaging 0.99
R8936:Nacc2 UTSW 2 25,952,216 (GRCm39) missense probably benign 0.16
R9035:Nacc2 UTSW 2 25,951,605 (GRCm39) missense probably damaging 1.00
R9200:Nacc2 UTSW 2 25,980,118 (GRCm39) missense probably damaging 0.98
R9395:Nacc2 UTSW 2 25,950,128 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20