Incidental Mutation 'R4380:Mcfd2'
ID 325312
Institutional Source Beutler Lab
Gene Symbol Mcfd2
Ensembl Gene ENSMUSG00000024150
Gene Name multiple coagulation factor deficiency 2
Synonyms LMAN1IP, 1810021C21Rik, F5F8D
MMRRC Submission 041678-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R4380 (G1)
Quality Score 223
Status Validated
Chromosome 17
Chromosomal Location 87561871-87573363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 87565387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 39 (G39R)
Ref Sequence ENSEMBL: ENSMUSP00000114354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024963] [ENSMUST00000129616] [ENSMUST00000144236] [ENSMUST00000145895] [ENSMUST00000151155] [ENSMUST00000155904]
AlphaFold Q8K5B2
Predicted Effect probably benign
Transcript: ENSMUST00000024963
AA Change: G39R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000024963
Gene: ENSMUSG00000024150
AA Change: G39R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:EF-hand_7 45 144 6.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129616
AA Change: G39R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000123352
Gene: ENSMUSG00000024150
AA Change: G39R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:EF-hand_7 40 144 2.5e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139258
Predicted Effect probably benign
Transcript: ENSMUST00000144236
AA Change: G39R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121820
Gene: ENSMUSG00000024150
AA Change: G39R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:EF-hand_7 40 144 2.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145895
AA Change: G39R

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000117105
Gene: ENSMUSG00000024150
AA Change: G39R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
PDB:2VRG|A 36 104 8e-40 PDB
Blast:EFh 71 99 3e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000151155
AA Change: G39R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000119856
Gene: ENSMUSG00000024150
AA Change: G39R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
PDB:2VRG|A 36 131 8e-60 PDB
Blast:EFh 71 99 2e-10 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000155904
AA Change: G39R

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114354
Gene: ENSMUSG00000024150
AA Change: G39R

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
PDB:2VRG|A 36 74 8e-19 PDB
Meta Mutation Damage Score 0.0599 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (45/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik T C 7: 44,326,580 (GRCm39) noncoding transcript Het
Casc3 C A 11: 98,713,857 (GRCm39) P363Q possibly damaging Het
Cep162 C A 9: 87,082,056 (GRCm39) R1283L probably damaging Het
Clk3 C A 9: 57,659,075 (GRCm39) W562L probably damaging Het
Col17a1 G A 19: 47,645,529 (GRCm39) T844M possibly damaging Het
Dntt G C 19: 41,041,672 (GRCm39) G452A probably damaging Het
Dop1b G A 16: 93,513,120 (GRCm39) V20I possibly damaging Het
Dst T C 1: 34,202,316 (GRCm39) S215P probably damaging Het
Dync1li2 A T 8: 105,154,798 (GRCm39) I270N probably damaging Het
Egflam A T 15: 7,273,350 (GRCm39) I575N possibly damaging Het
Gldc G T 19: 30,138,168 (GRCm39) probably benign Het
Gm17067 C A 7: 42,357,462 (GRCm39) V347L probably benign Het
Gmds T A 13: 32,101,679 (GRCm39) N304I probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Igfn1 T C 1: 135,895,509 (GRCm39) T1686A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lamb3 A T 1: 193,013,683 (GRCm39) Q519L probably benign Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Macf1 A G 4: 123,248,285 (GRCm39) probably benign Het
Mecom T C 3: 30,041,219 (GRCm39) H125R probably damaging Het
Nme7 A G 1: 164,172,807 (GRCm39) T173A probably benign Het
Or4s2b A G 2: 88,508,615 (GRCm39) T132A possibly damaging Het
Or5ac15 C T 16: 58,940,027 (GRCm39) M135I probably benign Het
Pde1c T A 6: 56,049,263 (GRCm39) R683S probably null Het
Pkn2 A T 3: 142,536,217 (GRCm39) probably benign Het
Plppr4 T G 3: 117,116,046 (GRCm39) T604P probably benign Het
Pramel23 T A 4: 143,424,856 (GRCm39) I196F probably benign Het
Slc34a2 C T 5: 53,226,628 (GRCm39) P584S probably damaging Het
Slco5a1 A T 1: 13,009,392 (GRCm39) M361K probably damaging Het
Snx4 T A 16: 33,084,666 (GRCm39) I60N probably damaging Het
Sp6 T C 11: 96,912,572 (GRCm39) L95P probably damaging Het
Stat5b A G 11: 100,678,175 (GRCm39) F646S probably damaging Het
Tbc1d1 T C 5: 64,490,891 (GRCm39) M785T probably benign Het
Tbc1d22a T A 15: 86,235,935 (GRCm39) C365S probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Tnfsf8 A T 4: 63,779,264 (GRCm39) C11* probably null Het
Ttn A T 2: 76,748,485 (GRCm39) V4188E probably damaging Het
Ugt2b5 T A 5: 87,275,753 (GRCm39) H366L probably damaging Het
Wdr17 T C 8: 55,101,442 (GRCm39) probably benign Het
Zfhx3 A G 8: 109,683,022 (GRCm39) Y3487C unknown Het
Zfp28 C T 7: 6,396,441 (GRCm39) T292I probably benign Het
Other mutations in Mcfd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02401:Mcfd2 APN 17 87,564,592 (GRCm39) missense probably damaging 0.98
R2061:Mcfd2 UTSW 17 87,563,404 (GRCm39) missense probably damaging 1.00
R6461:Mcfd2 UTSW 17 87,565,494 (GRCm39) missense probably benign 0.23
R9614:Mcfd2 UTSW 17 87,565,421 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTACTACCAGGAGTCCCAAGG -3'
(R):5'- CTCAGTGCTCTTGTCTGCAG -3'

Sequencing Primer
(F):5'- TCCCAAGGGATAATGTTGAGCACTG -3'
(R):5'- TCCCAGGATTCCAGAAGCTCTG -3'
Posted On 2015-07-06