Incidental Mutation 'R2924:Mtbp'
ID 255676
Institutional Source Beutler Lab
Gene Symbol Mtbp
Ensembl Gene ENSMUSG00000022369
Gene Name Mdm2, transformed 3T3 cell double minute p53 binding protein
Synonyms MDM2BP
MMRRC Submission 040509-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2924 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 55420804-55489819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55483210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 429 (R429Q)
Ref Sequence ENSEMBL: ENSMUSP00000128615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022998] [ENSMUST00000169667]
AlphaFold Q8BJS8
Predicted Effect probably benign
Transcript: ENSMUST00000022998
AA Change: R802Q

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022998
Gene: ENSMUSG00000022369
AA Change: R802Q

DomainStartEndE-ValueType
Pfam:MTBP_N 1 270 1.2e-116 PFAM
Pfam:MTBP_mid 287 626 1.4e-161 PFAM
Pfam:MTBP_C 630 884 1.3e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166449
Predicted Effect probably benign
Transcript: ENSMUST00000169667
AA Change: R429Q

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128615
Gene: ENSMUSG00000022369
AA Change: R429Q

DomainStartEndE-ValueType
Pfam:MTBP_mid 1 253 2.3e-119 PFAM
Pfam:MTBP_C 257 511 2.5e-129 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171146
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the oncoprotein mouse double minute 2. The encoded protein regulates progression through the cell cycle and may be involved in tumor formation. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a reporter allele exhibit early embryonic lethality; interestingly, heterozygous mice are not tumor prone. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9 A G 3: 97,117,069 (GRCm39) S542P probably benign Het
Cass4 A G 2: 172,268,592 (GRCm39) R225G possibly damaging Het
Ddx50 A T 10: 62,463,373 (GRCm39) V440E probably damaging Het
Dmrtc2 G A 7: 24,571,941 (GRCm39) C12Y probably damaging Het
Dock6 A T 9: 21,720,926 (GRCm39) I1693N probably damaging Het
Fuom T C 7: 139,679,862 (GRCm39) T110A probably benign Het
Gli2 C T 1: 118,764,089 (GRCm39) R1354H probably benign Het
Gm5478 A T 15: 101,552,229 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Il2rb T C 15: 78,376,049 (GRCm39) M1V probably null Het
Ints6l A G X: 55,550,196 (GRCm39) E483G probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Man2b2 A G 5: 36,981,446 (GRCm39) F224L probably benign Het
Mrgpra1 G A 7: 46,984,618 (GRCm39) probably null Het
Ncapg2 C A 12: 116,402,349 (GRCm39) T727K probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Nup214 A G 2: 31,888,015 (GRCm39) K15E probably damaging Het
Or1e34 A G 11: 73,778,337 (GRCm39) I287T probably damaging Het
Oxr1 T C 15: 41,689,353 (GRCm39) Y526H probably benign Het
Plec A G 15: 76,062,452 (GRCm39) F2563S probably damaging Het
Prex2 A G 1: 11,168,711 (GRCm39) T236A probably damaging Het
Rbbp5 G C 1: 132,420,401 (GRCm39) probably null Het
Slc24a2 A G 4: 86,929,961 (GRCm39) S512P probably benign Het
Srd5a1 A G 13: 69,734,834 (GRCm39) S191P probably damaging Het
Syt3 T A 7: 44,045,222 (GRCm39) V518E probably damaging Het
Tmem132e T C 11: 82,335,149 (GRCm39) S652P probably damaging Het
Uba6 A T 5: 86,307,130 (GRCm39) V102D probably damaging Het
Unc13a A G 8: 72,097,596 (GRCm39) V1158A possibly damaging Het
Upk3a A G 15: 84,902,350 (GRCm39) Y59C probably benign Het
Zc3hav1 T C 6: 38,331,045 (GRCm39) Y38C probably damaging Het
Zfp119a C A 17: 56,175,343 (GRCm39) D51Y possibly damaging Het
Other mutations in Mtbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Mtbp APN 15 55,480,904 (GRCm39) nonsense probably null
IGL00988:Mtbp APN 15 55,421,894 (GRCm39) unclassified probably benign
IGL01608:Mtbp APN 15 55,421,085 (GRCm39) nonsense probably null
IGL02422:Mtbp APN 15 55,426,439 (GRCm39) missense possibly damaging 0.59
IGL02664:Mtbp APN 15 55,483,039 (GRCm39) missense probably benign 0.01
IGL03160:Mtbp APN 15 55,484,013 (GRCm39) splice site probably benign
R0008:Mtbp UTSW 15 55,449,889 (GRCm39) splice site probably benign
R0008:Mtbp UTSW 15 55,449,889 (GRCm39) splice site probably benign
R0242:Mtbp UTSW 15 55,440,882 (GRCm39) missense possibly damaging 0.60
R0242:Mtbp UTSW 15 55,440,882 (GRCm39) missense possibly damaging 0.60
R0280:Mtbp UTSW 15 55,449,857 (GRCm39) missense probably benign 0.04
R0302:Mtbp UTSW 15 55,488,820 (GRCm39) missense probably damaging 0.99
R0387:Mtbp UTSW 15 55,474,425 (GRCm39) missense possibly damaging 0.82
R0402:Mtbp UTSW 15 55,432,466 (GRCm39) nonsense probably null
R0648:Mtbp UTSW 15 55,466,597 (GRCm39) missense probably benign
R0735:Mtbp UTSW 15 55,426,338 (GRCm39) nonsense probably null
R0845:Mtbp UTSW 15 55,426,486 (GRCm39) critical splice donor site probably null
R1186:Mtbp UTSW 15 55,428,067 (GRCm39) missense probably null 1.00
R1398:Mtbp UTSW 15 55,440,933 (GRCm39) nonsense probably null
R1500:Mtbp UTSW 15 55,480,951 (GRCm39) missense probably damaging 0.99
R1712:Mtbp UTSW 15 55,434,690 (GRCm39) critical splice acceptor site probably null
R1893:Mtbp UTSW 15 55,421,064 (GRCm39) missense probably benign 0.37
R1902:Mtbp UTSW 15 55,470,111 (GRCm39) missense probably damaging 0.99
R1917:Mtbp UTSW 15 55,428,073 (GRCm39) splice site probably benign
R2267:Mtbp UTSW 15 55,432,556 (GRCm39) critical splice donor site probably null
R2268:Mtbp UTSW 15 55,432,556 (GRCm39) critical splice donor site probably null
R2269:Mtbp UTSW 15 55,432,556 (GRCm39) critical splice donor site probably null
R2383:Mtbp UTSW 15 55,429,590 (GRCm39) missense probably damaging 1.00
R2512:Mtbp UTSW 15 55,440,932 (GRCm39) missense probably damaging 0.98
R2925:Mtbp UTSW 15 55,483,210 (GRCm39) missense probably benign 0.21
R4164:Mtbp UTSW 15 55,472,917 (GRCm39) missense probably benign
R4232:Mtbp UTSW 15 55,484,073 (GRCm39) nonsense probably null
R4255:Mtbp UTSW 15 55,484,081 (GRCm39) missense possibly damaging 0.66
R4438:Mtbp UTSW 15 55,466,611 (GRCm39) missense probably benign 0.41
R5009:Mtbp UTSW 15 55,466,583 (GRCm39) missense probably benign
R5132:Mtbp UTSW 15 55,421,965 (GRCm39) missense possibly damaging 0.92
R5685:Mtbp UTSW 15 55,426,168 (GRCm39) missense probably damaging 1.00
R5933:Mtbp UTSW 15 55,434,723 (GRCm39) missense possibly damaging 0.92
R6377:Mtbp UTSW 15 55,421,016 (GRCm39) start codon destroyed probably null 0.32
R6554:Mtbp UTSW 15 55,430,645 (GRCm39) missense probably damaging 0.99
R6811:Mtbp UTSW 15 55,469,942 (GRCm39) splice site probably null
R6942:Mtbp UTSW 15 55,430,596 (GRCm39) missense probably damaging 0.99
R7134:Mtbp UTSW 15 55,421,961 (GRCm39) missense probably benign 0.00
R7374:Mtbp UTSW 15 55,426,355 (GRCm39) missense possibly damaging 0.95
R7397:Mtbp UTSW 15 55,432,547 (GRCm39) missense probably benign 0.06
R7520:Mtbp UTSW 15 55,440,742 (GRCm39) intron probably benign
R7655:Mtbp UTSW 15 55,472,922 (GRCm39) missense unknown
R7656:Mtbp UTSW 15 55,472,922 (GRCm39) missense unknown
R8472:Mtbp UTSW 15 55,449,748 (GRCm39) missense probably damaging 0.99
R9215:Mtbp UTSW 15 55,484,035 (GRCm39) missense possibly damaging 0.92
R9786:Mtbp UTSW 15 55,481,032 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CGAAAAGTAGGCTCCATTGTTG -3'
(R):5'- GCTCCTAGCATCTGATGATCTTAG -3'

Sequencing Primer
(F):5'- CTCCTTACAGACTTACGAGATCAG -3'
(R):5'- GAAAGCAGGAAGTCCTTAC -3'
Posted On 2014-12-29