Incidental Mutation 'R9052:Mfap5'
ID 688445
Institutional Source Beutler Lab
Gene Symbol Mfap5
Ensembl Gene ENSMUSG00000030116
Gene Name microfibrillar associated protein 5
Synonyms MAGP-2
MMRRC Submission 068878-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R9052 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 122490543-122506249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122501463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 72 (T72A)
Ref Sequence ENSEMBL: ENSMUSP00000122863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032210] [ENSMUST00000118626] [ENSMUST00000121656] [ENSMUST00000142896] [ENSMUST00000148517]
AlphaFold Q9QZJ6
Predicted Effect
SMART Domains Protein: ENSMUSP00000032210
Gene: ENSMUSG00000030116
AA Change: T60A

DomainStartEndE-ValueType
Pfam:MAGP 2 117 1.8e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118626
SMART Domains Protein: ENSMUSP00000113742
Gene: ENSMUSG00000030116

DomainStartEndE-ValueType
Pfam:MAGP 2 121 3.5e-60 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121656
AA Change: T38A

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112596
Gene: ENSMUSG00000030116
AA Change: T38A

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:MAGP 31 69 8.5e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000142896
AA Change: T60A

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116769
Gene: ENSMUSG00000030116
AA Change: T60A

DomainStartEndE-ValueType
Pfam:MAGP 2 117 9.8e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148517
AA Change: T72A

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122863
Gene: ENSMUSG00000030116
AA Change: T72A

DomainStartEndE-ValueType
Pfam:MAGP 3 129 1.3e-60 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (69/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,778,031 (GRCm39) E71G probably damaging Het
2610021A01Rik G T 7: 41,275,449 (GRCm39) G384V probably benign Het
4931406B18Rik T A 7: 43,147,631 (GRCm39) R247* probably null Het
Abca4 G T 3: 121,940,908 (GRCm39) V1576F possibly damaging Het
Acsl6 A T 11: 54,232,615 (GRCm39) T489S possibly damaging Het
Adcy8 C T 15: 64,792,764 (GRCm39) R64H probably benign Het
Atad2b C A 12: 5,015,982 (GRCm39) F569L probably damaging Het
Atp2c1 A T 9: 105,330,032 (GRCm39) I266N probably damaging Het
Atp8a1 A G 5: 67,936,301 (GRCm39) probably null Het
Coch T C 12: 51,640,408 (GRCm39) M1T probably null Het
Col5a3 C A 9: 20,710,733 (GRCm39) R537L unknown Het
Crb1 C T 1: 139,171,161 (GRCm39) R743Q possibly damaging Het
Crybg2 T C 4: 133,803,035 (GRCm39) F889L probably damaging Het
Cyp4f15 C T 17: 32,911,589 (GRCm39) T157I probably damaging Het
D630045J12Rik G T 6: 38,154,544 (GRCm39) Q1212K probably damaging Het
Dennd1a A G 2: 37,911,463 (GRCm39) Y175H probably damaging Het
Dhcr7 C A 7: 143,395,060 (GRCm39) T192K possibly damaging Het
Dlg1 T A 16: 31,656,942 (GRCm39) I612N probably damaging Het
Dmpk G A 7: 18,821,614 (GRCm39) V291M probably damaging Het
Dnajc6 T C 4: 101,496,617 (GRCm39) V928A probably damaging Het
Dst A G 1: 34,206,045 (GRCm39) Y859C probably damaging Het
Dst C T 1: 34,236,411 (GRCm39) Q1592* probably null Het
Gm10226 T A 17: 21,910,959 (GRCm39) C65S possibly damaging Het
Helz2 T C 2: 180,881,968 (GRCm39) K275R possibly damaging Het
Hltf A G 3: 20,152,246 (GRCm39) T581A probably damaging Het
Ighv1-24 C T 12: 114,736,555 (GRCm39) C115Y probably damaging Het
Il18 C T 9: 50,489,090 (GRCm39) L40F possibly damaging Het
Isg20 A G 7: 78,566,390 (GRCm39) D113G probably damaging Het
Itgb3 A T 11: 104,524,413 (GRCm39) D183V probably damaging Het
Kif12 C T 4: 63,090,068 (GRCm39) V28M probably damaging Het
Manbal T C 2: 157,221,107 (GRCm39) L28P probably damaging Het
Masp1 T A 16: 23,339,350 (GRCm39) probably benign Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mrps5 G A 2: 127,433,876 (GRCm39) probably benign Het
Ms4a1 T A 19: 11,233,954 (GRCm39) T101S probably benign Het
Myo3b A G 2: 70,062,747 (GRCm39) M344V probably benign Het
Naaladl1 T G 19: 6,158,716 (GRCm39) F283V probably benign Het
Nacc1 A C 8: 85,403,377 (GRCm39) V166G probably damaging Het
Nwd2 A T 5: 63,961,773 (GRCm39) R452S probably damaging Het
Or1n1b T C 2: 36,780,105 (GRCm39) T252A probably damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or5k16 T C 16: 58,736,561 (GRCm39) T148A probably benign Het
Or6c214 C G 10: 129,591,094 (GRCm39) C75S possibly damaging Het
Pik3cg T C 12: 32,245,708 (GRCm39) I847V possibly damaging Het
Plcz1 G A 6: 139,968,905 (GRCm39) H178Y probably damaging Het
Prkdc T A 16: 15,508,160 (GRCm39) M937K probably benign Het
Prr14l A T 5: 32,987,478 (GRCm39) C672* probably null Het
Rasl11a C A 5: 146,782,107 (GRCm39) D27E probably benign Het
Rbm27 T C 18: 42,465,893 (GRCm39) S860P probably damaging Het
Rfxap G A 3: 54,715,155 (GRCm39) probably benign Het
Rhbdf2 A C 11: 116,494,758 (GRCm39) L306R probably benign Het
Rigi C A 4: 40,208,459 (GRCm39) V826L probably benign Het
Rnf123 A T 9: 107,936,930 (GRCm39) V875E probably damaging Het
Sh3bp2 A G 5: 34,709,164 (GRCm39) probably benign Het
Slc7a9 A G 7: 35,153,017 (GRCm39) K145R probably benign Het
Slco5a1 A T 1: 13,060,397 (GRCm39) V108E possibly damaging Het
Stat2 A G 10: 128,117,538 (GRCm39) E352G probably damaging Het
Synj1 A T 16: 90,735,728 (GRCm39) S1408R probably benign Het
Tent5c A T 3: 100,380,618 (GRCm39) I46K probably benign Het
Tgs1 T A 4: 3,585,166 (GRCm39) M102K probably benign Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Ttc23 C A 7: 67,342,687 (GRCm39) C268* probably null Het
Uhrf2 T C 19: 30,070,236 (GRCm39) F795S probably damaging Het
Urgcp A G 11: 5,673,153 (GRCm39) W41R probably damaging Het
Uso1 G T 5: 92,328,422 (GRCm39) V340F probably damaging Het
Vta1 A C 10: 14,551,692 (GRCm39) I169R probably benign Het
Zfp317 A G 9: 19,556,568 (GRCm39) I59V probably benign Het
Zfp799 G A 17: 33,039,786 (GRCm39) T160I probably benign Het
Zfp955a G T 17: 33,461,279 (GRCm39) H284Q possibly 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
R5947:Mfap5 UTSW 6 122,502,945 (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
X0064:Mfap5 UTSW 6 122,491,344 (GRCm39) missense probably null 0.12
Predicted Primers PCR Primer
(F):5'- TGTGGGACTCCTTCTAGAAGTTAC -3'
(R):5'- TGAACAGCACATACCTCTGG -3'

Sequencing Primer
(F):5'- GGACTCCTTCTAGAAGTTACTAAGAG -3'
(R):5'- GCACATACCTCTGGCAGAG -3'
Posted On 2021-11-19