Incidental Mutation 'R4190:Fahd2a'
ID 319903
Institutional Source Beutler Lab
Gene Symbol Fahd2a
Ensembl Gene ENSMUSG00000027371
Gene Name fumarylacetoacetate hydrolase domain containing 2A
Synonyms 1500003K14Rik, B430104H02Rik
MMRRC Submission 041021-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4190 (G1)
Quality Score 122
Status Validated
Chromosome 2
Chromosomal Location 127278135-127286485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127280486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 156 (V156I)
Ref Sequence ENSEMBL: ENSMUSP00000028848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028848] [ENSMUST00000062211]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000028848
AA Change: V156I

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000028848
Gene: ENSMUSG00000027371
AA Change: V156I

DomainStartEndE-ValueType
low complexity region 47 53 N/A INTRINSIC
Pfam:FAA_hydrolase 107 313 3.1e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000062211
SMART Domains Protein: ENSMUSP00000049619
Gene: ENSMUSG00000046338

DomainStartEndE-ValueType
PlsC 199 333 1.45e-11 SMART
Blast:PlsC 347 387 7e-13 BLAST
low complexity region 431 468 N/A INTRINSIC
low complexity region 515 528 N/A INTRINSIC
low complexity region 593 613 N/A INTRINSIC
low complexity region 664 675 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137366
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146615
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 T C 12: 84,089,948 (GRCm39) probably benign Het
Adgre1 A G 17: 57,709,811 (GRCm39) Y156C unknown Het
Ankrd13b G A 11: 77,367,201 (GRCm39) A21V probably damaging Het
Atf7ip T C 6: 136,564,499 (GRCm39) V914A probably damaging Het
C230029F24Rik AGAAAG A 1: 49,350,088 (GRCm39) noncoding transcript Het
Calcr T A 6: 3,717,106 (GRCm39) D118V possibly damaging Het
Cdc42bpg T C 19: 6,371,711 (GRCm39) V1330A probably damaging Het
Cfap54 T C 10: 92,720,885 (GRCm39) E2567G unknown Het
Ctse T A 1: 131,590,479 (GRCm39) V67D probably benign Het
Ddx19b A T 8: 111,737,980 (GRCm39) L256Q probably damaging Het
Dipk1b T C 2: 26,526,193 (GRCm39) Y376H probably damaging Het
Fam185a T A 5: 21,630,122 (GRCm39) probably benign Het
Fam234a A T 17: 26,432,834 (GRCm39) L467Q probably damaging Het
Gabra2 G A 5: 71,165,341 (GRCm39) P210S probably benign Het
Heatr3 T C 8: 88,864,888 (GRCm39) probably benign Het
Herc2 T C 7: 55,772,196 (GRCm39) V1125A probably benign Het
Itga11 T A 9: 62,639,391 (GRCm39) C129S probably damaging Het
Lama2 A G 10: 27,142,660 (GRCm39) L606P probably damaging Het
Macf1 A G 4: 123,366,835 (GRCm39) F1077S possibly damaging Het
Mtmr10 G T 7: 63,963,934 (GRCm39) W223L probably benign Het
Nlgn1 T A 3: 25,488,062 (GRCm39) T758S probably benign Het
Nr4a1 T C 15: 101,171,993 (GRCm39) S556P probably damaging Het
Or4c126 C A 2: 89,823,918 (GRCm39) Y60* probably null Het
Or5p64 T C 7: 107,855,330 (GRCm39) D5G probably benign Het
Or6c201 T C 10: 128,968,836 (GRCm39) N267S possibly damaging Het
Or6c33 A T 10: 129,853,847 (GRCm39) I206F probably damaging Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Plscr5 T C 9: 92,080,651 (GRCm39) S46P probably benign Het
Ppp2r3d T C 9: 124,424,123 (GRCm38) probably benign Het
Prodh C T 16: 17,891,504 (GRCm39) V480I probably benign Het
Senp2 G T 16: 21,865,417 (GRCm39) W580L probably damaging Het
Sorcs3 T C 19: 48,737,812 (GRCm39) V743A possibly damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Stab2 G T 10: 86,714,808 (GRCm39) N119K probably damaging Het
Telo2 T C 17: 25,320,987 (GRCm39) T743A probably benign Het
Trav6-1 A G 14: 52,875,976 (GRCm39) N2S probably benign Het
Trmt44 C A 5: 35,732,314 (GRCm39) V26L possibly damaging Het
Ttbk1 A T 17: 46,790,173 (GRCm39) C91S probably damaging Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Vmn2r84 A T 10: 130,227,163 (GRCm39) L225* probably null Het
Vmn2r87 A G 10: 130,308,556 (GRCm39) Y561H probably damaging Het
Yars1 T A 4: 129,093,820 (GRCm39) C60* probably null Het
Zfp202 T C 9: 40,122,633 (GRCm39) V465A probably benign Het
Other mutations in Fahd2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01344:Fahd2a APN 2 127,283,987 (GRCm39) missense probably benign 0.30
R1897:Fahd2a UTSW 2 127,278,530 (GRCm39) missense probably damaging 1.00
R4993:Fahd2a UTSW 2 127,278,284 (GRCm39) missense probably benign 0.08
R5327:Fahd2a UTSW 2 127,283,878 (GRCm39) missense possibly damaging 0.92
R7473:Fahd2a UTSW 2 127,282,376 (GRCm39) missense probably damaging 0.97
R9197:Fahd2a UTSW 2 127,278,284 (GRCm39) missense possibly damaging 0.70
R9725:Fahd2a UTSW 2 127,278,304 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- AAGGTGGTATGTGAAAGCCC -3'
(R):5'- CACTCTTCACTGCAGGTGTC -3'

Sequencing Primer
(F):5'- CCCAGTGTGTTCCAGTGTAGAAC -3'
(R):5'- TGAGTGTAAATTCAGGGCCCC -3'
Posted On 2015-06-10