Incidental Mutation 'IGL02836:Nacc2'
ID361650
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nacc2
Ensembl Gene ENSMUSG00000026932
Gene Namenucleus accumbens associated 2, BEN and BTB (POZ) domain containing
Synonyms0610020I02Rik, C030048H19Rik, Btbd14a
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.235) question?
Stock #IGL02836
Quality Score
Status
Chromosome2
Chromosomal Location26055535-26123220 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 26090317 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 36 (V36I)
Ref Sequence ENSEMBL: ENSMUSP00000120198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028300] [ENSMUST00000114159] [ENSMUST00000140993]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028300
AA Change: V36I

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028300
Gene: ENSMUSG00000026932
AA Change: V36I

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 possibly damaging
Transcript: ENSMUST00000114159
AA Change: V36I

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109796
Gene: ENSMUSG00000026932
AA Change: V36I

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 damaging
Transcript: ENSMUST00000140993
AA Change: V36I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120198
Gene: ENSMUSG00000026932
AA Change: V36I

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T A 4: 144,623,212 N346K possibly damaging Het
Abca15 A G 7: 120,388,216 M1242V probably benign Het
Abca6 T A 11: 110,248,548 E33D probably damaging Het
Abca8a T C 11: 110,070,351 K582E possibly damaging Het
Abcb6 A G 1: 75,178,002 L263P probably damaging Het
Adamts2 A C 11: 50,787,279 E795A probably damaging Het
Avil T A 10: 127,008,995 I292N probably damaging Het
Ccdc129 T A 6: 55,898,090 W342R probably damaging Het
Cd300ld2 T C 11: 115,013,750 D97G probably benign Het
Cfh A C 1: 140,102,399 I912R probably damaging Het
Cyp26c1 A T 19: 37,687,156 Q156L probably benign Het
Dhx57 T C 17: 80,267,549 I614V probably damaging Het
Dip2c T A 13: 9,610,790 S896T probably damaging Het
Dmtn G T 14: 70,616,078 P97Q probably damaging Het
Dock6 A T 9: 21,801,864 V1931E probably damaging Het
Dpep2 C A 8: 105,990,595 probably null Het
Dsg1c T A 18: 20,267,929 L163Q probably benign Het
Esyt3 A G 9: 99,320,907 probably benign Het
Fcgbp T A 7: 28,117,358 I2415N possibly damaging Het
Fpr-rs6 T C 17: 20,183,045 D18G probably benign Het
Fras1 T C 5: 96,534,866 V74A possibly damaging Het
Frem3 T C 8: 80,614,381 V1101A probably benign Het
Fut8 T A 12: 77,450,213 V399E probably benign Het
Galntl5 G T 5: 25,186,239 K45N probably benign Het
Gbe1 A G 16: 70,561,095 Y669C possibly damaging Het
Gcnt1 T C 19: 17,330,129 I77M probably benign Het
Mark2 A G 19: 7,278,040 probably null Het
Muc2 A T 7: 141,746,713 probably benign Het
Nphp1 T C 2: 127,769,623 I268V probably benign Het
Olfr1154 T G 2: 87,903,380 T99P possibly damaging Het
Oosp3 A G 19: 11,700,968 I5V probably benign Het
Pex7 A G 10: 19,894,244 probably benign Het
Prr14l T C 5: 32,831,096 K352E probably benign Het
Rheb T A 5: 24,803,711 I170F probably benign Het
Rpgrip1 A G 14: 52,145,257 probably null Het
Rps2 T A 17: 24,720,676 L107Q probably damaging Het
Rrp1 A T 10: 78,405,040 probably benign Het
Rtcb A T 10: 85,943,942 V288D possibly damaging Het
Sec14l3 T C 11: 4,070,084 F174L probably benign Het
Slc28a1 G A 7: 81,126,161 V202M probably damaging Het
Slc44a3 A T 3: 121,531,717 C32S probably damaging Het
Syne1 G A 10: 5,409,875 probably benign Het
Synrg C A 11: 84,001,978 probably benign Het
Tmem219 A T 7: 126,888,949 F265I probably benign Het
Tmem94 T C 11: 115,792,939 I726T probably damaging Het
Trim37 T C 11: 87,196,959 M632T probably benign Het
Trpm6 A T 19: 18,813,482 Q627L probably damaging Het
Uvrag A G 7: 98,979,777 V361A possibly damaging Het
Yipf3 C A 17: 46,251,594 N308K possibly damaging Het
Zfp438 A G 18: 5,245,427 probably benign Het
Zmiz1 T A 14: 25,656,742 probably benign Het
Zranb3 A G 1: 127,960,825 V841A probably benign Het
Other mutations in Nacc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Nacc2 APN 2 26089690 missense probably benign
IGL00906:Nacc2 APN 2 26061666 missense probably damaging 1.00
IGL02122:Nacc2 APN 2 26089948 missense probably benign 0.04
IGL03355:Nacc2 APN 2 26062237 missense probably damaging 1.00
R0239:Nacc2 UTSW 2 26062261 missense probably damaging 1.00
R0239:Nacc2 UTSW 2 26062261 missense probably damaging 1.00
R0326:Nacc2 UTSW 2 26060333 missense probably damaging 1.00
R0553:Nacc2 UTSW 2 26089590 missense possibly damaging 0.75
R1743:Nacc2 UTSW 2 26060143 missense probably benign
R2172:Nacc2 UTSW 2 26060223 missense probably benign 0.00
R2497:Nacc2 UTSW 2 26089568 nonsense probably null
R4027:Nacc2 UTSW 2 26060336 missense probably benign 0.11
R4724:Nacc2 UTSW 2 26090173 missense probably damaging 1.00
R5045:Nacc2 UTSW 2 26090138 synonymous probably null
R5151:Nacc2 UTSW 2 26090353 missense probably damaging 1.00
R5198:Nacc2 UTSW 2 26060334 missense probably benign 0.22
R5905:Nacc2 UTSW 2 26061578 missense probably damaging 1.00
R6028:Nacc2 UTSW 2 26061578 missense probably damaging 1.00
R6257:Nacc2 UTSW 2 26060408 missense probably damaging 1.00
R6924:Nacc2 UTSW 2 26090029 missense probably damaging 0.97
Posted On2015-12-18