Incidental Mutation 'R2248:Afp'
ID 240943
Institutional Source Beutler Lab
Gene Symbol Afp
Ensembl Gene ENSMUSG00000054932
Gene Name alpha fetoprotein
Synonyms alpha-foetoprotein
MMRRC Submission 040248-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.515) question?
Stock # R2248 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 90638596-90656766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90649429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 332 (D332G)
Ref Sequence ENSEMBL: ENSMUSP00000041006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042755]
AlphaFold P02772
Predicted Effect probably damaging
Transcript: ENSMUST00000042755
AA Change: D332G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041006
Gene: ENSMUSG00000054932
AA Change: D332G

DomainStartEndE-ValueType
ALBUMIN 20 201 5.33e-70 SMART
ALBUMIN 208 393 8.52e-69 SMART
ALBUMIN 400 591 6.39e-82 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202955
Meta Mutation Damage Score 0.3706 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Females homozygous for targeted null mutations are sterile due to impairment of the hypothalamic/pituitary system and failure of the estrus cycle resulting in anovulation. Homozygous males are fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,323,476 (GRCm39) probably benign Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aldh1a2 A T 9: 71,123,144 (GRCm39) I6F possibly damaging Het
Alg6 C T 4: 99,626,444 (GRCm39) A84V probably damaging Het
Ank T A 15: 27,562,797 (GRCm39) probably null Het
Ano5 A T 7: 51,243,537 (GRCm39) M837L probably benign Het
Arl8b A G 6: 108,760,304 (GRCm39) Y30C probably benign Het
Bfsp1 A T 2: 143,669,572 (GRCm39) probably null Het
Cdhr1 C G 14: 36,803,334 (GRCm39) V581L probably benign Het
Chst8 G T 7: 34,447,597 (GRCm39) T7K probably damaging Het
Clca3b T C 3: 144,530,980 (GRCm39) K790R probably benign Het
Clta A G 4: 44,012,852 (GRCm39) N21D probably damaging Het
Col6a4 T G 9: 105,957,158 (GRCm39) E222A probably benign Het
Dcc G T 18: 71,959,239 (GRCm39) Q178K probably benign Het
Dpysl3 T C 18: 43,491,358 (GRCm39) D140G possibly damaging Het
Dthd1 A T 5: 63,007,243 (GRCm39) D648V probably damaging Het
Eva1c A G 16: 90,628,213 (GRCm39) N18S probably benign Het
Flnc A G 6: 29,451,400 (GRCm39) H1538R probably damaging Het
Foxn3 T C 12: 99,162,815 (GRCm39) E362G probably benign Het
Frk C A 10: 34,484,527 (GRCm39) T500K probably benign Het
Glipr1l1 A G 10: 111,898,192 (GRCm39) E99G probably benign Het
Gphn T C 12: 78,501,595 (GRCm39) L120P probably damaging Het
Gpr152 T C 19: 4,193,805 (GRCm39) S449P probably benign Het
Greb1 T A 12: 16,730,379 (GRCm39) I1655F possibly damaging Het
Hectd1 G T 12: 51,853,254 (GRCm39) T89N probably damaging Het
Helz2 A C 2: 180,875,226 (GRCm39) I1756S probably benign Het
Hydin G T 8: 111,304,835 (GRCm39) R3825L probably benign Het
Ifi207 G A 1: 173,564,036 (GRCm39) probably benign Het
Itpr3 A T 17: 27,334,033 (GRCm39) E2035V probably damaging Het
Khnyn T A 14: 56,124,195 (GRCm39) S150T probably benign Het
Kif21b T C 1: 136,100,704 (GRCm39) I1595T probably damaging Het
Lgsn A T 1: 31,242,607 (GRCm39) T230S possibly damaging Het
Limch1 G T 5: 67,201,742 (GRCm39) G838V probably damaging Het
Lrp2 T A 2: 69,341,354 (GRCm39) D942V probably damaging Het
Lrrc31 T A 3: 30,744,050 (GRCm39) T153S possibly damaging Het
Mal2 T A 15: 54,451,732 (GRCm39) I51N probably damaging Het
Matcap2 A G 9: 22,355,410 (GRCm39) T482A probably benign Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Mycbp2 T A 14: 103,407,295 (GRCm39) Q385L possibly damaging Het
Nav3 T A 10: 109,532,088 (GRCm39) D2117V probably damaging Het
Ntn1 T C 11: 68,168,398 (GRCm39) N353S possibly damaging Het
Oas1c T C 5: 120,940,926 (GRCm39) E289G possibly damaging Het
Or2m13 A G 16: 19,225,944 (GRCm39) V274A probably damaging Het
Or4a81 C A 2: 89,619,524 (GRCm39) M57I possibly damaging Het
Or5w17 T C 2: 87,584,287 (GRCm39) I17V probably null Het
Plk1 A G 7: 121,768,044 (GRCm39) probably benign Het
Pms2 G A 5: 143,853,324 (GRCm39) V230M probably damaging Het
Pole3 C A 4: 62,443,250 (GRCm39) probably benign Het
Ppp2r5c T C 12: 110,452,357 (GRCm39) F22S probably benign Het
Prp2rt C A 13: 97,235,406 (GRCm39) V114F possibly damaging Het
Ptcd3 A T 6: 71,871,269 (GRCm39) probably null Het
Ptprq A T 10: 107,478,931 (GRCm39) probably null Het
Rab18 T A 18: 6,788,629 (GRCm39) C199S probably damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Sacs A G 14: 61,450,251 (GRCm39) N4099S probably damaging Het
Sh3yl1 T A 12: 30,992,869 (GRCm39) probably null Het
Slco1c1 T A 6: 141,492,415 (GRCm39) I217N probably damaging Het
Syne2 C T 12: 76,143,678 (GRCm39) T6241I probably damaging Het
Tas2r119 T C 15: 32,178,297 (GRCm39) F288L possibly damaging Het
Tmod2 G T 9: 75,499,931 (GRCm39) T107N probably benign Het
Trappc6b T C 12: 59,097,167 (GRCm39) T52A probably damaging Het
Tsen54 A G 11: 115,706,232 (GRCm39) E122G probably damaging Het
Tspear A G 10: 77,709,103 (GRCm39) N443S probably damaging Het
Unc80 A G 1: 66,662,365 (GRCm39) probably benign Het
Virma T A 4: 11,518,927 (GRCm39) Y725N probably damaging Het
Vwa7 G A 17: 35,238,019 (GRCm39) D207N probably benign Het
Other mutations in Afp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03261:Afp APN 5 90,639,610 (GRCm39) critical splice donor site probably null
R0018:Afp UTSW 5 90,654,600 (GRCm39) missense probably damaging 1.00
R0387:Afp UTSW 5 90,645,150 (GRCm39) missense probably damaging 1.00
R0529:Afp UTSW 5 90,652,254 (GRCm39) missense probably damaging 1.00
R1401:Afp UTSW 5 90,649,486 (GRCm39) splice site probably benign
R1471:Afp UTSW 5 90,651,541 (GRCm39) missense possibly damaging 0.49
R1666:Afp UTSW 5 90,652,927 (GRCm39) missense probably damaging 0.99
R1800:Afp UTSW 5 90,638,655 (GRCm39) missense probably benign 0.00
R2138:Afp UTSW 5 90,647,506 (GRCm39) missense probably damaging 1.00
R4324:Afp UTSW 5 90,655,764 (GRCm39) missense probably benign 0.00
R4555:Afp UTSW 5 90,654,546 (GRCm39) missense possibly damaging 0.88
R5035:Afp UTSW 5 90,655,764 (GRCm39) missense probably benign 0.00
R5241:Afp UTSW 5 90,649,473 (GRCm39) missense probably benign 0.37
R5925:Afp UTSW 5 90,645,147 (GRCm39) missense probably damaging 1.00
R6220:Afp UTSW 5 90,652,269 (GRCm39) missense possibly damaging 0.78
R6719:Afp UTSW 5 90,651,562 (GRCm39) missense probably benign 0.01
R8211:Afp UTSW 5 90,649,345 (GRCm39) missense possibly damaging 0.73
R8496:Afp UTSW 5 90,639,572 (GRCm39) missense probably damaging 1.00
R8960:Afp UTSW 5 90,651,500 (GRCm39) missense probably benign 0.12
R9112:Afp UTSW 5 90,652,289 (GRCm39) critical splice donor site probably null
R9326:Afp UTSW 5 90,652,205 (GRCm39) missense probably damaging 0.99
Z1088:Afp UTSW 5 90,652,874 (GRCm39) missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- GGGCTCTAAGTTCCTACCTTAGAG -3'
(R):5'- TTACATCTCCTGGGTGTCACG -3'

Sequencing Primer
(F):5'- AAGTTCCTACCTTAGAGGATAAACC -3'
(R):5'- TGTCACGGCATCTAGACAGC -3'
Posted On 2014-10-15