Incidental Mutation 'R2093:Pmaip1'
ID 231948
Institutional Source Beutler Lab
Gene Symbol Pmaip1
Ensembl Gene ENSMUSG00000024521
Gene Name phorbol-12-myristate-13-acetate-induced protein 1
Synonyms Noxa
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R2093 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 66591675-66598629 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 66594052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 64 (P64Q)
Ref Sequence ENSEMBL: ENSMUSP00000025399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025399]
AlphaFold Q9JM54
PDB Structure Solution structure of MCL-1 complexed with NOXAB [SOLUTION NMR]
Crystal structure of the Mcl-1:mNoxaB BH3 complex [X-RAY DIFFRACTION]
Solution Structure of MCL-1 Complexed with NoxaA [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000025399
AA Change: P64Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025399
Gene: ENSMUSG00000024521
AA Change: P64Q

DomainStartEndE-ValueType
Pfam:PMAIP1 1 37 3.6e-13 PFAM
Pfam:PMAIP1 50 103 3.4e-33 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Though inactivation of this gene results in apoptotic abnormalities, homozygous null mice develop normally and show no evidence of tumorigenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 A G 1: 130,671,041 (GRCm39) D421G probably benign Het
Adamts1 T G 16: 85,599,333 (GRCm39) Q89P probably benign Het
Arhgef10l T G 4: 140,297,601 (GRCm39) N277T possibly damaging Het
Atp2c1 G A 9: 105,295,320 (GRCm39) R669* probably null Het
Brip1 T C 11: 86,029,971 (GRCm39) T558A possibly damaging Het
Cbr2 G A 11: 120,621,255 (GRCm39) T148I probably benign Het
Ccdc110 C A 8: 46,395,114 (GRCm39) T335K probably damaging Het
Cd44 T G 2: 102,644,629 (GRCm39) D731A probably damaging Het
Cnot1 T C 8: 96,501,986 (GRCm39) D44G probably damaging Het
Cnrip1 T C 11: 17,002,237 (GRCm39) V23A probably damaging Het
Cntnap5c A T 17: 58,505,995 (GRCm39) H673L probably benign Het
Col3a1 C T 1: 45,372,150 (GRCm39) A493V probably damaging Het
Crem A T 18: 3,299,256 (GRCm39) V19E probably damaging Het
Cyp2g1 A G 7: 26,518,858 (GRCm39) D418G probably benign Het
Dmrta1 A T 4: 89,579,742 (GRCm39) H234L probably benign Het
Drc3 C T 11: 60,261,310 (GRCm39) R154W probably damaging Het
Drgx C T 14: 32,369,112 (GRCm39) probably benign Het
Eef1d A G 15: 75,774,550 (GRCm39) S370P probably benign Het
Fdx2 T C 9: 20,984,720 (GRCm39) H28R probably benign Het
Fmo5 A G 3: 97,553,194 (GRCm39) I381V probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fras1 T C 5: 96,929,062 (GRCm39) L3822P probably damaging Het
Gm3604 G T 13: 62,517,420 (GRCm39) H313N possibly damaging Het
Heatr4 T C 12: 84,021,855 (GRCm39) E460G possibly damaging Het
Ino80 T A 2: 119,257,151 (GRCm39) H834L possibly damaging Het
Insr A T 8: 3,254,762 (GRCm39) C331S probably damaging Het
Itih4 C T 14: 30,613,694 (GRCm39) L304F probably damaging Het
Klhdc3 C T 17: 46,988,879 (GRCm39) V104I probably benign Het
Lrp2 C T 2: 69,366,365 (GRCm39) D245N probably benign Het
Map1b T C 13: 99,566,178 (GRCm39) E2181G unknown Het
Map2 T C 1: 66,438,599 (GRCm39) V41A probably damaging Het
Mical3 A T 6: 121,017,347 (GRCm39) H156Q probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Myo5b T A 18: 74,892,263 (GRCm39) L1669Q probably damaging Het
Nme8 G A 13: 19,835,042 (GRCm39) S548F probably damaging Het
Npas1 A T 7: 16,193,202 (GRCm39) N408K probably benign Het
Or1j11 A T 2: 36,311,941 (GRCm39) Y177F probably benign Het
Or8k30 A C 2: 86,339,587 (GRCm39) Q261H probably damaging Het
Pcnx4 T C 12: 72,626,216 (GRCm39) Y1141H probably damaging Het
Ranbp3 T A 17: 57,017,145 (GRCm39) M387K probably damaging Het
Rbm4 A G 19: 4,837,792 (GRCm39) Y231H probably damaging Het
Rpgrip1l T C 8: 91,996,760 (GRCm39) S105G possibly damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Rtn3 A T 19: 7,434,215 (GRCm39) D573E probably damaging Het
Rxrg T C 1: 167,454,893 (GRCm39) C159R probably damaging Het
Sdk2 T C 11: 113,833,948 (GRCm39) Y78C probably damaging Het
Smu1 A G 4: 40,738,438 (GRCm39) V432A probably benign Het
Spag1 T C 15: 36,224,276 (GRCm39) L609P probably damaging Het
Spata21 T G 4: 140,824,277 (GRCm39) V180G probably benign Het
Spata31e2 G T 1: 26,721,222 (GRCm39) Y1319* probably null Het
Sptlc3 A T 2: 139,467,794 (GRCm39) I451F possibly damaging Het
Srl A G 16: 4,340,896 (GRCm39) C8R unknown Het
Tmprss13 A G 9: 45,256,340 (GRCm39) R485G probably damaging Het
Trpv4 C T 5: 114,773,565 (GRCm39) A266T probably damaging Het
Vmn1r198 A G 13: 22,538,855 (GRCm39) T25A probably benign Het
Vmn2r77 T C 7: 86,450,702 (GRCm39) V196A probably benign Het
Vmn2r82 C T 10: 79,231,813 (GRCm39) T604I probably benign Het
Zfp268 C A 4: 145,349,139 (GRCm39) T192N probably benign Het
Zfp354a C T 11: 50,960,551 (GRCm39) T254I probably damaging Het
Other mutations in Pmaip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02496:Pmaip1 APN 18 66,596,370 (GRCm39) missense probably damaging 0.97
R5685:Pmaip1 UTSW 18 66,594,055 (GRCm39) missense probably benign 0.27
R7335:Pmaip1 UTSW 18 66,591,885 (GRCm39) critical splice donor site probably null
R9218:Pmaip1 UTSW 18 66,596,370 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GCGAGTAGGATTGCTTTCAATG -3'
(R):5'- CAGTCTTCTGAGCTGAGCTGAG -3'

Sequencing Primer
(F):5'- GCTTTCAATGTTAATTTCCAGGTG -3'
(R):5'- CAGTGACTCTCTGGGGTAGC -3'
Posted On 2014-09-18