Incidental Mutation 'R5229:F2'
ID 403635
Institutional Source Beutler Lab
Gene Symbol F2
Ensembl Gene ENSMUSG00000027249
Gene Name coagulation factor II
Synonyms Cf-2, FII, prothrombin, Cf2, thrombin
MMRRC Submission 042802-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5229 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 91455665-91466759 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 91460586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 301 (Y301*)
Ref Sequence ENSEMBL: ENSMUSP00000106967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028681] [ENSMUST00000111335]
AlphaFold P19221
Predicted Effect probably null
Transcript: ENSMUST00000028681
AA Change: Y302*
SMART Domains Protein: ENSMUSP00000028681
Gene: ENSMUSG00000027249
AA Change: Y302*

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GLA 25 89 1.91e-30 SMART
KR 107 189 7.47e-37 SMART
KR 213 295 5.09e-30 SMART
Tryp_SPc 360 610 9.99e-84 SMART
Predicted Effect probably null
Transcript: ENSMUST00000111335
AA Change: Y301*
SMART Domains Protein: ENSMUSP00000106967
Gene: ENSMUSG00000027249
AA Change: Y301*

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
GLA 25 89 1.91e-30 SMART
KR 107 189 8.01e-37 SMART
KR 212 294 5.09e-30 SMART
Tryp_SPc 359 609 9.99e-84 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153182
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: This gene encodes a vitamin K-dependent glycoprotein coagulation factor that plays an important role in the process of blood coagulation and hemostasis. The encoded protein is an inactive zymogen that undergoes enzymatic cleavage by the coagulation factor Xa to form an active serine protease that converts soluble fibrinogen to insoluble fibrin clot. Most of the mice lacking the encoded protein die at an embryonic stage due to defects in yolk sac vasculature, while the rare nenonates succumb to hemorrhage on the first postnatal day. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in yolk sac vasculature, internal bleeding, tissue necrosis, and die in mid- to late-gestation, or rarely, a few days after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik T C 1: 16,151,183 (GRCm39) probably benign Het
4930562C15Rik A G 16: 4,667,915 (GRCm39) I435M possibly damaging Het
Adcy5 A G 16: 35,089,440 (GRCm39) I546V probably damaging Het
Apob A G 12: 8,027,806 (GRCm39) T10A probably benign Het
Brwd1 C A 16: 95,803,409 (GRCm39) D2254Y possibly damaging Het
Bub1b C A 2: 118,460,470 (GRCm39) D600E probably damaging Het
Cnga1 A G 5: 72,766,843 (GRCm39) S199P probably damaging Het
Cyp3a11 G T 5: 145,791,945 (GRCm39) L483I probably benign Het
Depp1 T C 6: 116,628,992 (GRCm39) S112P possibly damaging Het
Dpysl3 C A 18: 43,466,016 (GRCm39) G457V probably damaging Het
Eif4g3 C A 4: 137,824,105 (GRCm39) P36T possibly damaging Het
Epb41 C A 4: 131,706,246 (GRCm39) G415C probably damaging Het
Erap1 G A 13: 74,808,494 (GRCm39) V69M possibly damaging Het
F2rl2 A T 13: 95,837,195 (GRCm39) N80I possibly damaging Het
Fam237b A T 5: 5,625,565 (GRCm39) Y87F possibly damaging Het
Gm15446 T G 5: 110,091,036 (GRCm39) H429Q probably damaging Het
Gpat3 G A 5: 101,031,290 (GRCm39) G148D probably damaging Het
Gpr26 A T 7: 131,585,976 (GRCm39) R315S probably damaging Het
Hdac9 A C 12: 34,487,163 (GRCm39) H100Q probably damaging Het
Heatr5a A T 12: 51,994,761 (GRCm39) V457D probably benign Het
Igkv10-96 A G 6: 68,609,223 (GRCm39) M24T possibly damaging Het
Igkv2-95-2 A G 6: 68,625,095 (GRCm39) noncoding transcript Het
Kdm4a G A 4: 118,003,802 (GRCm39) S758F probably damaging Het
Lrg1 A G 17: 56,427,154 (GRCm39) W273R probably damaging Het
Man2a1 A T 17: 65,017,729 (GRCm39) Q658H probably benign Het
Mapkapk5 T C 5: 121,671,454 (GRCm39) probably null Het
Mcm6 T C 1: 128,261,321 (GRCm39) D761G possibly damaging Het
Myh8 A T 11: 67,175,310 (GRCm39) Y286F probably damaging Het
Nbn C T 4: 15,963,893 (GRCm39) T98I probably damaging Het
Nrdc T C 4: 108,906,305 (GRCm39) S685P probably damaging Het
Nudcd3 A G 11: 6,143,238 (GRCm39) V80A probably benign Het
Or10al5 A G 17: 38,063,192 (GRCm39) H149R probably benign Het
Or5p54 A G 7: 107,554,376 (GRCm39) H176R probably damaging Het
Pdcd6ip A T 9: 113,507,401 (GRCm39) M390K probably damaging Het
Pon1 C T 6: 5,177,295 (GRCm39) V205I possibly damaging Het
Ppp4r2 C A 6: 100,842,176 (GRCm39) H212Q probably benign Het
Pramel32 T C 4: 88,548,372 (GRCm39) D11G possibly damaging Het
Prl2c5 G A 13: 13,360,441 (GRCm39) C33Y probably damaging Het
Rbak A G 5: 143,159,917 (GRCm39) F379L probably damaging Het
Rcc2 G A 4: 140,444,340 (GRCm39) D344N probably damaging Het
Rgs3 T C 4: 62,620,424 (GRCm39) L550P probably damaging Het
Rnasek A T 11: 70,130,486 (GRCm39) M25K probably damaging Het
Scgb1b24 A T 7: 33,443,520 (GRCm39) T60S possibly damaging Het
Scn5a A G 9: 119,365,042 (GRCm39) F392S probably damaging Het
Scpep1 A T 11: 88,827,871 (GRCm39) V209E probably damaging Het
Slc35g1 A G 19: 38,391,080 (GRCm39) probably null Het
Sorbs1 A G 19: 40,329,151 (GRCm39) I554T probably damaging Het
Spats1 A G 17: 45,777,059 (GRCm39) probably benign Het
Tdp1 A G 12: 99,859,919 (GRCm39) Q202R probably damaging Het
Trav6-5 T G 14: 53,729,045 (GRCm39) S102A probably damaging Het
Tspan2 T C 3: 102,676,215 (GRCm39) M208T probably damaging Het
Ube4b A G 4: 149,471,635 (GRCm39) S84P probably damaging Het
Vmn1r237 C A 17: 21,534,633 (GRCm39) Q119K probably benign Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Zfp65 A T 13: 67,856,929 (GRCm39) S117T probably benign Het
Other mutations in F2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02334:F2 APN 2 91,463,439 (GRCm39) missense probably benign 0.16
IGL02390:F2 APN 2 91,463,332 (GRCm39) missense possibly damaging 0.81
IGL02859:F2 APN 2 91,456,087 (GRCm39) missense probably damaging 1.00
IGL02970:F2 APN 2 91,455,896 (GRCm39) missense possibly damaging 0.95
IGL03278:F2 APN 2 91,465,527 (GRCm39) missense probably benign 0.01
Sarode UTSW 2 91,465,539 (GRCm39) missense probably benign 0.35
R0007:F2 UTSW 2 91,460,952 (GRCm39) missense probably benign 0.00
R0015:F2 UTSW 2 91,460,952 (GRCm39) missense probably benign 0.00
R0137:F2 UTSW 2 91,456,075 (GRCm39) missense probably damaging 1.00
R0211:F2 UTSW 2 91,460,503 (GRCm39) missense probably damaging 1.00
R0304:F2 UTSW 2 91,463,578 (GRCm39) missense probably damaging 0.99
R0601:F2 UTSW 2 91,463,656 (GRCm39) splice site probably null
R0830:F2 UTSW 2 91,460,545 (GRCm39) missense probably benign 0.34
R1693:F2 UTSW 2 91,459,524 (GRCm39) missense probably damaging 1.00
R1720:F2 UTSW 2 91,459,175 (GRCm39) nonsense probably null
R1763:F2 UTSW 2 91,465,251 (GRCm39) missense probably damaging 1.00
R1865:F2 UTSW 2 91,465,539 (GRCm39) missense probably benign 0.35
R1955:F2 UTSW 2 91,463,440 (GRCm39) missense probably benign 0.01
R2055:F2 UTSW 2 91,458,787 (GRCm39) missense probably benign 0.00
R2168:F2 UTSW 2 91,458,693 (GRCm39) missense probably damaging 0.98
R2230:F2 UTSW 2 91,456,102 (GRCm39) missense probably benign 0.01
R3916:F2 UTSW 2 91,455,833 (GRCm39) missense probably damaging 1.00
R4004:F2 UTSW 2 91,458,741 (GRCm39) missense possibly damaging 0.88
R4134:F2 UTSW 2 91,459,553 (GRCm39) missense possibly damaging 0.93
R4298:F2 UTSW 2 91,459,665 (GRCm39) critical splice acceptor site probably null
R4626:F2 UTSW 2 91,461,015 (GRCm39) missense probably benign 0.07
R4902:F2 UTSW 2 91,465,316 (GRCm39) intron probably benign
R5093:F2 UTSW 2 91,465,302 (GRCm39) splice site probably benign
R5095:F2 UTSW 2 91,465,302 (GRCm39) splice site probably benign
R5140:F2 UTSW 2 91,465,302 (GRCm39) splice site probably benign
R5271:F2 UTSW 2 91,465,466 (GRCm39) intron probably benign
R5335:F2 UTSW 2 91,465,277 (GRCm39) missense possibly damaging 0.68
R7650:F2 UTSW 2 91,458,741 (GRCm39) missense possibly damaging 0.88
R7762:F2 UTSW 2 91,459,041 (GRCm39) missense possibly damaging 0.61
R8178:F2 UTSW 2 91,460,618 (GRCm39) splice site probably null
R8976:F2 UTSW 2 91,466,738 (GRCm39) missense probably benign
R9458:F2 UTSW 2 91,461,113 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAGTCTGCAGAGCAAGACAG -3'
(R):5'- ACCTCAACTACTGCGGTGAG -3'

Sequencing Primer
(F):5'- ACAGACGGTGAGGGGCC -3'
(R):5'- ACAAGTGGGTTCATTACAGCC -3'
Posted On 2016-07-22