Incidental Mutation 'IGL00090:Nr2c2ap'
ID1395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nr2c2ap
Ensembl Gene ENSMUSG00000071078
Gene Namenuclear receptor 2C2-associated protein
Synonyms2310073E15Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.927) question?
Stock #IGL00090
Quality Score
Status
Chromosome8
Chromosomal Location70131333-70133749 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70132629 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 93 (Y93C)
Ref Sequence ENSEMBL: ENSMUSP00000092907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075724] [ENSMUST00000095273] [ENSMUST00000211898] [ENSMUST00000212320]
Predicted Effect probably benign
Transcript: ENSMUST00000075724
SMART Domains Protein: ENSMUSP00000075140
Gene: ENSMUSG00000036120

DomainStartEndE-ValueType
ANK 132 161 1.36e-2 SMART
ANK 165 194 5.16e-3 SMART
ANK 198 227 7.42e-4 SMART
ANK 231 260 2.35e3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000095273
AA Change: Y93C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092907
Gene: ENSMUSG00000071078
AA Change: Y93C

DomainStartEndE-ValueType
SCOP:d1jhja_ 22 64 6e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000211898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211970
Predicted Effect probably benign
Transcript: ENSMUST00000212320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212851
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T G 10: 82,283,752 M4475L probably benign Het
Abcb5 T C 12: 118,890,610 T857A probably benign Het
Abcc9 A T 6: 142,633,190 probably benign Het
Adam11 A G 11: 102,776,831 T709A probably benign Het
Adgre1 A G 17: 57,450,055 I771V probably benign Het
Adgrv1 T G 13: 81,405,408 probably null Het
Adgrv1 C T 13: 81,578,101 D602N probably damaging Het
Adra1d G T 2: 131,561,677 D164E possibly damaging Het
Ago3 A G 4: 126,371,541 L319P probably damaging Het
Aim2 A G 1: 173,455,465 S38G probably benign Het
Apoh A G 11: 108,395,834 D28G probably benign Het
Atm C T 9: 53,524,443 R189K probably damaging Het
Bbs1 T C 19: 4,893,010 T451A probably benign Het
BC034090 T C 1: 155,225,447 D719G possibly damaging Het
Bcr T C 10: 75,157,071 probably benign Het
Bmp2 A T 2: 133,561,027 Q166L probably benign Het
Bms1 A T 6: 118,404,583 S665T probably benign Het
Ccser1 A T 6: 62,380,142 T855S possibly damaging Het
Cfap36 C T 11: 29,222,875 V217M probably benign Het
Clca3b T C 3: 144,836,632 N470D probably damaging Het
Cort A G 4: 149,125,295 F100S probably damaging Het
Cyp4f14 G T 17: 32,914,566 D105E probably benign Het
Dnah1 A G 14: 31,287,873 S1913P probably benign Het
Fam91a1 A T 15: 58,430,735 H308L probably damaging Het
Fbn1 A C 2: 125,324,947 I2016M probably damaging Het
Fibcd1 T A 2: 31,833,874 Q251L possibly damaging Het
Flg2 T A 3: 93,202,109 Y481* probably null Het
Ly9 A T 1: 171,593,451 I624N probably damaging Het
Mapt C T 11: 104,322,485 S301L probably damaging Het
Meiob G A 17: 24,823,629 V144I probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myo5a T A 9: 75,161,497 C660* probably null Het
Necab3 G T 2: 154,547,568 probably benign Het
Nxpe5 A G 5: 138,248,834 D356G probably benign Het
Olfr1331 T A 4: 118,869,287 Y168N probably damaging Het
Olfr225 A T 11: 59,613,321 Y119F possibly damaging Het
Plce1 A G 19: 38,745,788 Q1544R probably damaging Het
Plppr4 T A 3: 117,322,220 T605S probably benign Het
Poglut1 C A 16: 38,542,916 W167L possibly damaging Het
Pou2f1 G T 1: 165,902,298 R162S probably damaging Het
Ptprf A G 4: 118,223,220 probably benign Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Rexo2 A G 9: 48,474,447 S126P probably damaging Het
Robo4 A G 9: 37,411,104 S844G probably damaging Het
Scn7a A G 2: 66,683,327 probably benign Het
Sdc1 A G 12: 8,790,459 T75A possibly damaging Het
Slc38a4 C T 15: 97,019,809 E12K probably benign Het
Tbck T C 3: 132,743,093 probably null Het
Tex2 A T 11: 106,568,535 V23E probably damaging Het
Zfp770 A G 2: 114,195,932 V552A probably benign Het
Zfyve26 T C 12: 79,249,460 probably benign Het
Other mutations in Nr2c2ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0245:Nr2c2ap UTSW 8 70131578 missense possibly damaging 0.89
R0386:Nr2c2ap UTSW 8 70131587 missense probably benign 0.00
R1474:Nr2c2ap UTSW 8 70133115 missense probably benign 0.00
R5279:Nr2c2ap UTSW 8 70132003 missense probably damaging 1.00
Posted On2011-07-12