Incidental Mutation 'R5425:Mcrs1'
ID 426843
Institutional Source Beutler Lab
Gene Symbol Mcrs1
Ensembl Gene ENSMUSG00000037570
Gene Name microspherule protein 1
Synonyms MSP58, P78, C78274, ICP22BP
MMRRC Submission 042991-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5425 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 99140698-99149838 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 99141569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 376 (R376L)
Ref Sequence ENSEMBL: ENSMUSP00000131407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041190] [ENSMUST00000041415] [ENSMUST00000163506] [ENSMUST00000229671]
AlphaFold Q99L90
Predicted Effect probably damaging
Transcript: ENSMUST00000041190
AA Change: R389L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043901
Gene: ENSMUSG00000037570
AA Change: R389L

DomainStartEndE-ValueType
low complexity region 44 57 N/A INTRINSIC
low complexity region 81 113 N/A INTRINSIC
Pfam:MCRS_N 134 331 5.7e-98 PFAM
FHA 362 419 2.04e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041415
SMART Domains Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579

DomainStartEndE-ValueType
PAS 20 88 3.94e0 SMART
PAC 94 136 9.92e-6 SMART
low complexity region 148 159 N/A INTRINSIC
Pfam:Ion_trans 224 523 3.8e-34 PFAM
Pfam:Ion_trans_2 453 517 1e-12 PFAM
cNMP 593 708 2.04e-16 SMART
low complexity region 781 800 N/A INTRINSIC
low complexity region 857 872 N/A INTRINSIC
coiled coil region 886 918 N/A INTRINSIC
low complexity region 977 993 N/A INTRINSIC
low complexity region 1022 1035 N/A INTRINSIC
low complexity region 1054 1062 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163506
AA Change: R376L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131407
Gene: ENSMUSG00000037570
AA Change: R376L

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 68 100 N/A INTRINSIC
Pfam:MCRS_N 121 318 2.4e-97 PFAM
FHA 349 406 2.04e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229143
Predicted Effect probably benign
Transcript: ENSMUST00000229399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229656
Predicted Effect probably benign
Transcript: ENSMUST00000229671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231020
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,864,254 (GRCm39) E465G probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Aida T A 1: 183,103,201 (GRCm39) C174S possibly damaging Het
Aldh1a2 G A 9: 71,160,286 (GRCm39) R104H probably benign Het
Aldh3a1 T C 11: 61,104,407 (GRCm39) L98P probably benign Het
Ankmy1 G T 1: 92,798,679 (GRCm39) Y20* probably null Het
Arhgap9 C A 10: 127,162,287 (GRCm39) N314K probably damaging Het
Atxn7l1 T C 12: 33,417,119 (GRCm39) Y427H probably damaging Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Bola3 G T 6: 83,326,534 (GRCm39) G18W probably benign Het
Carmil3 A G 14: 55,731,334 (GRCm39) T138A probably benign Het
Castor1 T A 11: 4,171,689 (GRCm39) H304Q probably damaging Het
Ccnd2 A G 6: 127,127,580 (GRCm39) Y53H probably benign Het
Cd101 T A 3: 100,926,002 (GRCm39) D239V probably damaging Het
Ces1g T A 8: 94,052,428 (GRCm39) Q287L probably benign Het
Cfap43 C T 19: 47,885,371 (GRCm39) A415T possibly damaging Het
Cfap74 A G 4: 155,540,149 (GRCm39) probably benign Het
Crnn A G 3: 93,056,456 (GRCm39) K414R probably benign Het
Csf1 A G 3: 107,656,212 (GRCm39) L273P possibly damaging Het
Dab2ip T G 2: 35,600,003 (GRCm39) H206Q probably benign Het
Dipk2a T C 9: 94,419,745 (GRCm39) S62G probably damaging Het
Diras2 A G 13: 52,662,083 (GRCm39) S75P probably damaging Het
Dst T C 1: 34,218,831 (GRCm39) V1757A probably benign Het
Dus4l A T 12: 31,690,807 (GRCm39) H281Q probably damaging Het
Faah A T 4: 115,857,993 (GRCm39) M436K probably null Het
Fat1 T C 8: 45,478,922 (GRCm39) V2656A possibly damaging Het
Ffar1 A C 7: 30,560,204 (GRCm39) L231R probably damaging Het
Gab1 T C 8: 81,527,018 (GRCm39) K27E probably damaging Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
H2-T5 A C 17: 36,479,377 (GRCm39) L8R probably damaging Het
Irx6 T C 8: 93,404,145 (GRCm39) probably null Het
Mrgprb1 T A 7: 48,097,719 (GRCm39) L64F possibly damaging Het
Nck2 T G 1: 43,593,552 (GRCm39) V253G probably benign Het
Paip1 C T 13: 119,566,702 (GRCm39) T12M possibly damaging Het
Pdpk1 A T 17: 24,317,095 (GRCm39) L256Q probably damaging Het
Perm1 A G 4: 156,302,752 (GRCm39) D432G probably benign Het
Psg25 A T 7: 18,258,709 (GRCm39) Y322* probably null Het
Pzp G A 6: 128,466,011 (GRCm39) A1223V probably damaging Het
Rassf8 A T 6: 145,761,268 (GRCm39) Y198F probably benign Het
Repin1 A G 6: 48,573,365 (GRCm39) Q42R probably benign Het
Sirpb1b A C 3: 15,613,729 (GRCm39) C51G probably damaging Het
Snx13 C T 12: 35,150,643 (GRCm39) Q316* probably null Het
Spesp1 A G 9: 62,189,331 (GRCm39) V5A possibly damaging Het
Sprr2e G A 3: 92,260,370 (GRCm39) C67Y unknown Het
Tcaf3 G A 6: 42,573,697 (GRCm39) P172S probably damaging Het
Tmem126b A G 7: 90,120,155 (GRCm39) I72T probably benign Het
Tmem17 G T 11: 22,468,624 (GRCm39) V188L probably benign Het
Tnfrsf1b T C 4: 144,955,678 (GRCm39) probably null Het
Tshz2 A T 2: 169,725,944 (GRCm39) Q180L probably damaging Het
Ttc41 A T 10: 86,612,494 (GRCm39) I1256F probably damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Ywhag G T 5: 135,940,119 (GRCm39) H158Q probably benign Het
Other mutations in Mcrs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Mcrs1 APN 15 99,141,266 (GRCm39) missense probably damaging 0.97
IGL01338:Mcrs1 APN 15 99,147,382 (GRCm39) missense probably damaging 1.00
IGL01975:Mcrs1 APN 15 99,141,559 (GRCm39) critical splice donor site probably null
PIT4651001:Mcrs1 UTSW 15 99,144,832 (GRCm39) missense probably damaging 1.00
R0125:Mcrs1 UTSW 15 99,142,608 (GRCm39) unclassified probably benign
R0520:Mcrs1 UTSW 15 99,146,336 (GRCm39) splice site probably null
R0744:Mcrs1 UTSW 15 99,141,330 (GRCm39) unclassified probably benign
R0833:Mcrs1 UTSW 15 99,141,330 (GRCm39) unclassified probably benign
R0836:Mcrs1 UTSW 15 99,141,330 (GRCm39) unclassified probably benign
R2099:Mcrs1 UTSW 15 99,147,827 (GRCm39) missense probably benign 0.00
R2133:Mcrs1 UTSW 15 99,141,256 (GRCm39) missense probably damaging 1.00
R4557:Mcrs1 UTSW 15 99,141,028 (GRCm39) missense probably benign 0.01
R5517:Mcrs1 UTSW 15 99,144,876 (GRCm39) missense possibly damaging 0.88
R7129:Mcrs1 UTSW 15 99,146,609 (GRCm39) missense probably damaging 1.00
R8012:Mcrs1 UTSW 15 99,147,766 (GRCm39) missense probably damaging 1.00
R8015:Mcrs1 UTSW 15 99,146,735 (GRCm39) nonsense probably null
R8025:Mcrs1 UTSW 15 99,144,814 (GRCm39) nonsense probably null
R8171:Mcrs1 UTSW 15 99,146,613 (GRCm39) missense probably damaging 1.00
R8191:Mcrs1 UTSW 15 99,141,206 (GRCm39) missense probably damaging 1.00
R8420:Mcrs1 UTSW 15 99,141,575 (GRCm39) missense probably damaging 1.00
R8486:Mcrs1 UTSW 15 99,146,349 (GRCm39) nonsense probably null
R8777:Mcrs1 UTSW 15 99,141,237 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Mcrs1 UTSW 15 99,141,237 (GRCm39) missense probably damaging 1.00
R9626:Mcrs1 UTSW 15 99,146,353 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTATGAAGGCGTGCAAGCAC -3'
(R):5'- TAATGCGCTCTCGTGAGGTG -3'

Sequencing Primer
(F):5'- CTTGAGGTCCCAAGGTAGAGATCTC -3'
(R):5'- GCTCTCGTGAGGTGAGACAG -3'
Posted On 2016-09-01