Incidental Mutation 'R5382:Mro'
ID 424816
Institutional Source Beutler Lab
Gene Symbol Mro
Ensembl Gene ENSMUSG00000064036
Gene Name maestro
Synonyms 4930507C04Rik, 4933435E20Rik
MMRRC Submission 042957-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5382 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 73992465-74014405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 74009893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 187 (S187N)
Ref Sequence ENSEMBL: ENSMUSP00000113392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119239] [ENSMUST00000120033] [ENSMUST00000134847] [ENSMUST00000179472]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000119239
AA Change: S187N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113392
Gene: ENSMUSG00000064036
AA Change: S187N

DomainStartEndE-ValueType
SCOP:d1gw5a_ 23 239 9e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120033
AA Change: S188N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113434
Gene: ENSMUSG00000064036
AA Change: S188N

DomainStartEndE-ValueType
SCOP:d1gw5a_ 23 240 3e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136473
Predicted Effect probably benign
Transcript: ENSMUST00000179472
AA Change: S188N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136775
Gene: ENSMUSG00000064036
AA Change: S188N

DomainStartEndE-ValueType
SCOP:d1gw5a_ 23 240 3e-10 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal reproductive morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,314,844 (GRCm39) P250S possibly damaging Het
Actn2 T A 13: 12,323,837 (GRCm39) M133L probably benign Het
Arhgap32 A T 9: 32,063,306 (GRCm39) K105M probably damaging Het
BC034090 A G 1: 155,101,349 (GRCm39) V305A probably benign Het
Brd1 G A 15: 88,613,767 (GRCm39) T376M probably damaging Het
Cbl C T 9: 44,070,318 (GRCm39) A505T probably benign Het
Cga G T 4: 34,904,048 (GRCm39) M14I probably benign Het
Ciao3 A G 17: 25,995,894 (GRCm39) probably benign Het
Cluh T C 11: 74,555,935 (GRCm39) probably benign Het
Col14a1 A T 15: 55,225,832 (GRCm39) D165V unknown Het
Cp T C 3: 20,033,089 (GRCm39) W639R probably damaging Het
Cyp7b1 T A 3: 18,151,385 (GRCm39) D276V possibly damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Ecpas A T 4: 58,850,934 (GRCm39) M413K probably benign Het
Erc1 T A 6: 119,738,233 (GRCm39) M509L probably benign Het
Evi5l A G 8: 4,228,653 (GRCm39) probably benign Het
Exoc6 T C 19: 37,587,127 (GRCm39) probably null Het
Gm38706 C T 6: 130,460,744 (GRCm39) noncoding transcript Het
Gpr183 T C 14: 122,192,333 (GRCm39) T63A possibly damaging Het
Gpr63 T A 4: 25,007,952 (GRCm39) D225E probably benign Het
Grb14 T A 2: 64,745,078 (GRCm39) K93N probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kif28 C T 1: 179,527,847 (GRCm39) G768D probably damaging Het
Krt79 A T 15: 101,839,875 (GRCm39) D373E probably benign Het
Ms4a14 G T 19: 11,280,421 (GRCm39) D712E possibly damaging Het
Ndufaf1 T C 2: 119,490,893 (GRCm39) T56A possibly damaging Het
Nell2 A T 15: 95,127,091 (GRCm39) D761E probably damaging Het
Numb A G 12: 83,854,979 (GRCm39) F116L probably damaging Het
Or3a1 T A 11: 74,225,806 (GRCm39) M84L probably benign Het
Or4c114 A G 2: 88,905,079 (GRCm39) Y119H probably damaging Het
Or5an11 A T 19: 12,245,773 (GRCm39) M60L possibly damaging Het
Or6c66 T A 10: 129,461,876 (GRCm39) D18V probably damaging Het
Or8k27 A G 2: 86,275,660 (GRCm39) L222P probably damaging Het
Or9g20 T C 2: 85,630,492 (GRCm39) N41D probably damaging Het
Otog A C 7: 45,898,428 (GRCm39) N182T probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Padi6 A T 4: 140,458,521 (GRCm39) V457E probably damaging Het
Pex16 G A 2: 92,207,875 (GRCm39) R109H possibly damaging Het
Phactr1 T C 13: 43,288,695 (GRCm39) probably benign Het
Phf20 G A 2: 156,109,417 (GRCm39) E255K probably damaging Het
Pim1 A G 17: 29,710,457 (GRCm39) probably benign Het
Prr23a2 T A 9: 98,739,229 (GRCm39) Y196N probably damaging Het
Prune2 A T 19: 16,981,023 (GRCm39) N60I probably damaging Het
Ptprb T A 10: 116,189,776 (GRCm39) Y1812N probably damaging Het
Rab11fip4 A G 11: 79,581,541 (GRCm39) Y512C possibly damaging Het
Resf1 G T 6: 149,227,958 (GRCm39) E335* probably null Het
Rft1 T C 14: 30,388,739 (GRCm39) V221A probably benign Het
Tacr2 T C 10: 62,097,276 (GRCm39) M252T probably damaging Het
Tgfbrap1 A G 1: 43,115,025 (GRCm39) I25T probably benign Het
Th A G 7: 142,449,177 (GRCm39) F191S probably damaging Het
Trim3 C A 7: 105,267,554 (GRCm39) R275L probably benign Het
Trpm3 A G 19: 22,862,705 (GRCm39) probably null Het
Wars1 A T 12: 108,848,706 (GRCm39) D80E probably benign Het
Wdr90 T A 17: 26,064,572 (GRCm39) Y1806F probably damaging Het
Zfp644 A T 5: 106,782,735 (GRCm39) I1182N possibly damaging Het
Other mutations in Mro
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0471:Mro UTSW 18 74,009,860 (GRCm39) missense probably benign 0.04
R1671:Mro UTSW 18 74,003,126 (GRCm39) splice site probably benign
R1720:Mro UTSW 18 74,009,806 (GRCm39) missense probably benign 0.36
R2267:Mro UTSW 18 74,006,368 (GRCm39) missense probably benign 0.19
R4691:Mro UTSW 18 74,006,397 (GRCm39) missense probably benign
R6178:Mro UTSW 18 74,006,295 (GRCm39) missense possibly damaging 0.62
R6427:Mro UTSW 18 74,005,104 (GRCm39) missense probably damaging 1.00
R6833:Mro UTSW 18 73,997,003 (GRCm39) start gained probably benign
R7354:Mro UTSW 18 74,006,385 (GRCm39) missense probably benign 0.00
R7686:Mro UTSW 18 74,010,510 (GRCm39) missense probably benign 0.00
R8006:Mro UTSW 18 74,010,577 (GRCm39) missense possibly damaging 0.88
R8277:Mro UTSW 18 73,997,132 (GRCm39) splice site probably benign
R9031:Mro UTSW 18 74,009,911 (GRCm39) critical splice donor site probably null
RF016:Mro UTSW 18 74,003,035 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AGACCTGGCTCTGTTTTCTG -3'
(R):5'- TAGCATCCGTCTAGCACTGG -3'

Sequencing Primer
(F):5'- GCTCTGTTTTCTGGTTATGAAAAC -3'
(R):5'- CTAGCACTGGCAGGAGTTG -3'
Posted On 2016-08-04