Incidental Mutation 'R7296:Mfap5'
ID 571618
Institutional Source Beutler Lab
Gene Symbol Mfap5
Ensembl Gene ENSMUSG00000030116
Gene Name microfibrillar associated protein 5
Synonyms MAGP-2
MMRRC Submission 045400-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R7296 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 122505845-122529290 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122528422 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 162 (D162E)
Ref Sequence ENSEMBL: ENSMUSP00000122863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032210] [ENSMUST00000118626] [ENSMUST00000121656] [ENSMUST00000142896] [ENSMUST00000148517]
AlphaFold Q9QZJ6
Predicted Effect probably benign
Transcript: ENSMUST00000032210
AA Change: D150E

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032210
Gene: ENSMUSG00000030116
AA Change: D150E

Pfam:MAGP 2 117 1.8e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118626
AA Change: D154E

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000113742
Gene: ENSMUSG00000030116
AA Change: D154E

Pfam:MAGP 2 121 3.5e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121656
SMART Domains Protein: ENSMUSP00000112596
Gene: ENSMUSG00000030116

signal peptide 1 28 N/A INTRINSIC
Pfam:MAGP 31 69 8.5e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142896
SMART Domains Protein: ENSMUSP00000116769
Gene: ENSMUSG00000030116

Pfam:MAGP 2 117 9.8e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148517
AA Change: D162E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000122863
Gene: ENSMUSG00000030116
AA Change: D162E

Pfam:MAGP 3 129 1.3e-60 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (85/87)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik T A 1: 57,383,143 (GRCm38) M226K probably benign Het
2010300C02Rik T C 1: 37,614,618 (GRCm38) T1036A possibly damaging Het
4921524L21Rik T G 18: 6,626,385 (GRCm38) S132R probably damaging Het
A4gnt T G 9: 99,620,282 (GRCm38) I165S probably damaging Het
Abca14 G A 7: 120,278,311 (GRCm38) D1061N probably benign Het
Abcc9 G A 6: 142,671,593 (GRCm38) P582S probably damaging Het
Abhd5 G A 9: 122,379,573 (GRCm38) V343I probably benign Het
Adam6a C T 12: 113,545,572 (GRCm38) R522C probably damaging Het
Ankle2 G A 5: 110,237,724 (GRCm38) R313H probably damaging Het
Aplf G A 6: 87,646,215 (GRCm38) T315I probably damaging Het
Arntl2 G A 6: 146,822,134 (GRCm38) V321I not run Het
Asic5 C T 3: 82,021,076 (GRCm38) P491S probably benign Het
Atp5b T C 10: 128,085,522 (GRCm38) Y230H probably benign Het
B4galt6 A T 18: 20,728,042 (GRCm38) I51N probably damaging Het
C4b A G 17: 34,743,659 (GRCm38) L23S probably damaging Het
C77080 A G 4: 129,225,418 (GRCm38) Y170H probably damaging Het
Cables2 A G 2: 180,260,336 (GRCm38) V410A Het
Cdyl A G 13: 35,863,395 (GRCm38) M489V probably damaging Het
Clip4 T C 17: 71,790,001 (GRCm38) M40T probably damaging Het
Col12a1 T C 9: 79,682,066 (GRCm38) Y1069C probably damaging Het
Col6a3 T C 1: 90,827,986 (GRCm38) M194V probably benign Het
Colec11 T A 12: 28,594,715 (GRCm38) D260V probably damaging Het
Cux2 T C 5: 121,861,256 (GRCm38) D1207G probably benign Het
Cyp2d34 G T 15: 82,617,235 (GRCm38) N297K possibly damaging Het
Dmbt1 A G 7: 131,112,132 (GRCm38) Y1643C unknown Het
Dnmt3c A G 2: 153,715,026 (GRCm38) T288A probably benign Het
Dock8 T A 19: 25,184,881 (GRCm38) F1842I probably benign Het
Dysf A G 6: 84,106,898 (GRCm38) I740V probably benign Het
Epha6 T A 16: 59,915,838 (GRCm38) M778L probably benign Het
Eri2 A T 7: 119,786,516 (GRCm38) L254* probably null Het
Fam129b T C 2: 32,922,642 (GRCm38) S468P possibly damaging Het
Fam43b A G 4: 138,395,841 (GRCm38) F56S probably damaging Het
Fat4 C A 3: 38,889,145 (GRCm38) S729* probably null Het
Fbxw22 C A 9: 109,382,075 (GRCm38) W386L probably benign Het
Fgd6 C A 10: 94,139,881 (GRCm38) T1386K probably benign Het
Fgd6 T A 10: 94,044,047 (GRCm38) C254* probably null Het
Fkbp7 G T 2: 76,671,764 (GRCm38) D98E possibly damaging Het
Gm8251 T A 1: 44,060,916 (GRCm38) K341* probably null Het
Hectd1 C T 12: 51,785,852 (GRCm38) C913Y possibly damaging Het
Hgf T A 5: 16,564,843 (GRCm38) M105K probably benign Het
Icam1 A C 9: 21,019,015 (GRCm38) D55A probably benign Het
Itga2 A C 13: 114,857,394 (GRCm38) probably null Het
Kcnj5 A C 9: 32,322,749 (GRCm38) L90R probably damaging Het
Klra17 T A 6: 129,831,592 (GRCm38) N226I possibly damaging Het
Krt1 T A 15: 101,850,629 (GRCm38) R33S unknown Het
L3mbtl3 T A 10: 26,282,830 (GRCm38) D615V unknown Het
Lrp2 T A 2: 69,482,381 (GRCm38) Y2521F probably benign Het
Megf10 A T 18: 57,275,753 (GRCm38) N589I probably damaging Het
Metap1d G C 2: 71,506,785 (GRCm38) G14A probably benign Het
Mixl1 T C 1: 180,696,958 (GRCm38) I19V probably benign Het
Mtrr G T 13: 68,568,860 (GRCm38) Y411* probably null Het
Myh7 T C 14: 54,990,025 (GRCm38) T318A probably benign Het
Nbeal1 T A 1: 60,310,224 (GRCm38) Y2348* probably null Het
Nlrc3 T C 16: 3,963,590 (GRCm38) S668G probably damaging Het
Nutm1 G A 2: 112,250,056 (GRCm38) R505C probably damaging Het
Olfr1129 T A 2: 87,575,708 (GRCm38) V208E probably damaging Het
Olfr1222 C A 2: 89,124,836 (GRCm38) R298S probably benign Het
Olfr527 A T 7: 140,336,741 (GRCm38) D293V possibly damaging Het
Pcna A G 2: 132,252,877 (GRCm38) S54P probably benign Het
Pde6a A G 18: 61,258,293 (GRCm38) T570A probably damaging Het
Phf21b A T 15: 84,855,717 (GRCm38) M1K probably null Het
Prob1 A G 18: 35,653,299 (GRCm38) F634S possibly damaging Het
Prss50 A G 9: 110,861,289 (GRCm38) T167A probably damaging Het
Ptpn1 T C 2: 167,974,772 (GRCm38) V249A probably damaging Het
Rai1 G A 11: 60,188,673 (GRCm38) V1188I probably benign Het
Ric1 G A 19: 29,584,578 (GRCm38) probably null Het
Robo1 C T 16: 72,989,631 (GRCm38) Q844* probably null Het
Rpn1 A G 6: 88,084,637 (GRCm38) D36G possibly damaging Het
Serpinb1b A T 13: 33,093,827 (GRCm38) M348L probably benign Het
Setd4 T C 16: 93,583,942 (GRCm38) probably null Het
Setd5 T G 6: 113,147,557 (GRCm38) S1124A probably benign Het
Slc35c1 C A 2: 92,458,739 (GRCm38) V154F probably damaging Het
Slc7a6os G T 8: 106,210,489 (GRCm38) S113* probably null Het
Syne2 T A 12: 76,103,036 (GRCm38) D1787E probably benign Het
Tas2r144 A C 6: 42,215,439 (GRCm38) I38L probably damaging Het
Tepsin G T 11: 120,091,708 (GRCm38) T512K possibly damaging Het
Utp20 A G 10: 88,770,724 (GRCm38) V1662A probably benign Het
Vmn1r201 C T 13: 22,475,339 (GRCm38) A241V possibly damaging Het
Vmn2r60 T A 7: 42,136,402 (GRCm38) S210T probably benign Het
Wdr6 G T 9: 108,574,585 (GRCm38) H700N probably damaging Het
Zdhhc8 T C 16: 18,234,926 (GRCm38) T29A probably benign Het
Zfp335 A G 2: 164,900,132 (GRCm38) I614T probably damaging Het
Zfp54 T A 17: 21,433,582 (GRCm38) S113T probably benign Het
Zfp873 T A 10: 82,061,237 (GRCm38) C601S probably damaging Het
Zfyve26 T C 12: 79,278,372 (GRCm38) probably null Het
Zmynd8 T C 2: 165,840,009 (GRCm38) T201A probably damaging Het
Other mutations in Mfap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Mfap5 APN 6 122,526,016 (GRCm38) missense probably damaging 0.97
IGL02348:Mfap5 APN 6 122,526,787 (GRCm38) missense possibly damaging 0.95
R0094:Mfap5 UTSW 6 122,525,992 (GRCm38) missense probably damaging 0.98
R0094:Mfap5 UTSW 6 122,525,992 (GRCm38) missense probably damaging 0.98
R0827:Mfap5 UTSW 6 122,520,920 (GRCm38) missense probably damaging 0.98
R1279:Mfap5 UTSW 6 122,526,763 (GRCm38) splice site probably null
R2519:Mfap5 UTSW 6 122,525,989 (GRCm38) missense probably damaging 1.00
R5947:Mfap5 UTSW 6 122,525,986 (GRCm38) missense probably damaging 1.00
R6644:Mfap5 UTSW 6 122,520,596 (GRCm38) missense probably damaging 0.99
R7479:Mfap5 UTSW 6 122,526,862 (GRCm38) critical splice donor site probably null
R7548:Mfap5 UTSW 6 122,526,034 (GRCm38) missense probably benign 0.07
R7820:Mfap5 UTSW 6 122,520,921 (GRCm38) missense probably damaging 0.99
R8270:Mfap5 UTSW 6 122,521,930 (GRCm38) critical splice donor site probably null
R9052:Mfap5 UTSW 6 122,524,504 (GRCm38) missense probably benign 0.37
X0064:Mfap5 UTSW 6 122,514,385 (GRCm38) missense probably null 0.12
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-09-13