Incidental Mutation 'R5947:Mfap5'
ID 472227
Institutional Source Beutler Lab
Gene Symbol Mfap5
Ensembl Gene ENSMUSG00000030116
Gene Name microfibrillar associated protein 5
Synonyms MAGP-2
MMRRC Submission 044138-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R5947 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 122490543-122506249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122502945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 52 (Y52H)
Ref Sequence ENSEMBL: ENSMUSP00000112596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032210] [ENSMUST00000118626] [ENSMUST00000121656] [ENSMUST00000142896] [ENSMUST00000148517]
AlphaFold Q9QZJ6
Predicted Effect probably benign
Transcript: ENSMUST00000032210
AA Change: Y74H

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000032210
Gene: ENSMUSG00000030116
AA Change: Y74H

DomainStartEndE-ValueType
Pfam:MAGP 2 117 1.8e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118626
AA Change: Y78H

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113742
Gene: ENSMUSG00000030116
AA Change: Y78H

DomainStartEndE-ValueType
Pfam:MAGP 2 121 3.5e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121656
AA Change: Y52H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112596
Gene: ENSMUSG00000030116
AA Change: Y52H

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:MAGP 31 69 8.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126357
Predicted Effect probably benign
Transcript: ENSMUST00000142896
AA Change: Y74H

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000116769
Gene: ENSMUSG00000030116
AA Change: Y74H

DomainStartEndE-ValueType
Pfam:MAGP 2 117 9.8e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148517
AA Change: Y86H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000122863
Gene: ENSMUSG00000030116
AA Change: Y86H

DomainStartEndE-ValueType
Pfam:MAGP 3 129 1.3e-60 PFAM
Meta Mutation Damage Score 0.7473 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (70/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating neutrophils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 T C 8: 124,694,737 (GRCm39) probably null Het
Abt1 T C 13: 23,606,225 (GRCm39) E243G possibly damaging Het
Afap1l1 A G 18: 61,876,771 (GRCm39) S361P probably damaging Het
Alms1 T C 6: 85,596,694 (GRCm39) S507P probably benign Het
Atp13a3 A G 16: 30,181,518 (GRCm39) V34A probably benign Het
Atpaf2 A T 11: 60,296,708 (GRCm39) probably benign Het
Bbs1 A C 19: 4,943,022 (GRCm39) L456R probably benign Het
Bri3bp G T 5: 125,529,217 (GRCm39) G84* probably null Het
Bri3bp G C 5: 125,529,218 (GRCm39) probably benign Het
Car10 A C 11: 93,381,439 (GRCm39) H134P probably damaging Het
Cntrl A G 2: 35,006,691 (GRCm39) E119G probably damaging Het
Cxcl3 C T 5: 90,934,175 (GRCm39) probably benign Het
Dppa4 T C 16: 48,111,471 (GRCm39) V100A possibly damaging Het
Elmo1 G T 13: 20,474,553 (GRCm39) E105* probably null Het
Esrp2 T G 8: 106,859,565 (GRCm39) probably benign Het
Exoc3l4 A G 12: 111,388,835 (GRCm39) K108R possibly damaging Het
Exph5 G A 9: 53,286,522 (GRCm39) R1201H probably benign Het
Galnt3 A C 2: 65,914,500 (GRCm39) probably benign Het
Gm14486 C T 2: 30,548,813 (GRCm39) noncoding transcript Het
Gna12 T A 5: 140,746,717 (GRCm39) I243F probably damaging Het
Itga5 A T 15: 103,265,212 (GRCm39) W232R probably damaging Het
Lekr1 A T 3: 65,680,498 (GRCm39) noncoding transcript Het
Lrp1 C T 10: 127,425,423 (GRCm39) probably null Het
Mast4 T C 13: 102,872,148 (GRCm39) M2215V probably benign Het
Mrps31 A G 8: 22,904,991 (GRCm39) K127E possibly damaging Het
Mto1 C T 9: 78,368,311 (GRCm39) T485M probably damaging Het
Mybbp1a G A 11: 72,333,257 (GRCm39) C107Y probably damaging Het
Nedd4 G A 9: 72,638,132 (GRCm39) probably benign Het
Nek2 A G 1: 191,561,597 (GRCm39) E360G probably benign Het
Notch1 T A 2: 26,352,540 (GRCm39) probably benign Het
Nubp1 T C 16: 10,238,050 (GRCm39) probably benign Het
Pcdhb1 G A 18: 37,399,726 (GRCm39) R559H possibly damaging Het
Pdcd11 G A 19: 47,117,702 (GRCm39) V1684I probably benign Het
Pggt1b G T 18: 46,382,007 (GRCm39) N258K probably benign Het
Pou6f1 C T 15: 100,484,001 (GRCm39) V166M possibly damaging Het
Pprc1 A G 19: 46,052,111 (GRCm39) D546G possibly damaging Het
Psapl1 T C 5: 36,361,651 (GRCm39) V81A probably benign Het
Rin2 T A 2: 145,686,863 (GRCm39) probably benign Het
Rpf1 A G 3: 146,212,299 (GRCm39) F347S probably damaging Het
Rrp12 A T 19: 41,859,247 (GRCm39) probably null Het
Ryr1 A T 7: 28,771,349 (GRCm39) L2557Q probably null Het
Slc1a7 T C 4: 107,867,497 (GRCm39) probably benign Het
Slc35e2 T A 4: 155,696,171 (GRCm39) M186K possibly damaging Het
Slc49a4 T C 16: 35,550,676 (GRCm39) T308A probably benign Het
Snx6 G T 12: 54,817,549 (GRCm39) S116* probably null Het
Sptan1 T C 2: 29,884,379 (GRCm39) probably null Het
Sucla2 T A 14: 73,830,109 (GRCm39) M382K probably damaging Het
Susd5 T C 9: 113,886,659 (GRCm39) L16P possibly damaging Het
Tmem260 G A 14: 48,724,258 (GRCm39) A369T possibly damaging Het
Tmprss6 A G 15: 78,336,722 (GRCm39) Y393H probably damaging Het
Tnrc6c A T 11: 117,613,345 (GRCm39) Q501L probably damaging Het
Trim17 A G 11: 58,856,369 (GRCm39) Y142C probably damaging Het
Trim65 T C 11: 116,019,108 (GRCm39) R144G probably damaging Het
Trpm1 A G 7: 63,873,547 (GRCm39) T601A probably benign Het
Ttn A T 2: 76,564,688 (GRCm39) V28483E probably damaging Het
Ube2l3 T C 16: 17,019,340 (GRCm39) probably null Het
Ube2l3 G T 16: 17,019,336 (GRCm39) probably benign Het
Yme1l1 T C 2: 23,085,318 (GRCm39) probably benign Het
Zfat A G 15: 68,051,806 (GRCm39) S663P probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Mfap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Mfap5 APN 6 122,502,975 (GRCm39) missense probably damaging 0.97
IGL02348:Mfap5 APN 6 122,503,746 (GRCm39) missense possibly damaging 0.95
R0094:Mfap5 UTSW 6 122,502,951 (GRCm39) missense probably damaging 0.98
R0094:Mfap5 UTSW 6 122,502,951 (GRCm39) missense probably damaging 0.98
R0827:Mfap5 UTSW 6 122,497,879 (GRCm39) missense probably damaging 0.98
R1279:Mfap5 UTSW 6 122,503,722 (GRCm39) splice site probably null
R2519:Mfap5 UTSW 6 122,502,948 (GRCm39) missense probably damaging 1.00
R6644:Mfap5 UTSW 6 122,497,555 (GRCm39) missense probably damaging 0.99
R7296:Mfap5 UTSW 6 122,505,381 (GRCm39) missense probably benign 0.01
R7479:Mfap5 UTSW 6 122,503,821 (GRCm39) critical splice donor site probably null
R7548:Mfap5 UTSW 6 122,502,993 (GRCm39) missense probably benign 0.07
R7820:Mfap5 UTSW 6 122,497,880 (GRCm39) missense probably damaging 0.99
R8270:Mfap5 UTSW 6 122,498,889 (GRCm39) critical splice donor site probably null
R9052:Mfap5 UTSW 6 122,501,463 (GRCm39) missense probably benign 0.37
X0064:Mfap5 UTSW 6 122,491,344 (GRCm39) missense probably null 0.12
Predicted Primers PCR Primer
(F):5'- ACTTACTTCTGCTTCCAGGTAGG -3'
(R):5'- GGTTACACTAACAACCTCTGTCC -3'

Sequencing Primer
(F):5'- CCATCTGTTTTTGGCAAGCAAGAG -3'
(R):5'- CCATCAAAGACTGCCATTCTGTG -3'
Posted On 2017-03-31