Incidental Mutation 'R5425:Faah'
ID 426804
Institutional Source Beutler Lab
Gene Symbol Faah
Ensembl Gene ENSMUSG00000034171
Gene Name fatty acid amide hydrolase
Synonyms
MMRRC Submission 042991-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R5425 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 115853865-115876034 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115857993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 436 (M436K)
Ref Sequence ENSEMBL: ENSMUSP00000041543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049095]
AlphaFold O08914
Predicted Effect probably null
Transcript: ENSMUST00000049095
AA Change: M436K

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000041543
Gene: ENSMUSG00000034171
AA Change: M436K

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 74 87 N/A INTRINSIC
Pfam:Amidase 95 562 1.4e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156126
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show high brain anandamide (AEA) levels, reduced pain sensation, altered behavioral responses to AEA, and sex-specific changes in ethanol intake and sensitivity. Homozygotes for the C385A variant show enhanced cued fear extinction and reduced anxiety-like behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,864,254 (GRCm39) E465G probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Aida T A 1: 183,103,201 (GRCm39) C174S possibly damaging Het
Aldh1a2 G A 9: 71,160,286 (GRCm39) R104H probably benign Het
Aldh3a1 T C 11: 61,104,407 (GRCm39) L98P probably benign Het
Ankmy1 G T 1: 92,798,679 (GRCm39) Y20* probably null Het
Arhgap9 C A 10: 127,162,287 (GRCm39) N314K probably damaging Het
Atxn7l1 T C 12: 33,417,119 (GRCm39) Y427H probably damaging Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Bola3 G T 6: 83,326,534 (GRCm39) G18W probably benign Het
Carmil3 A G 14: 55,731,334 (GRCm39) T138A probably benign Het
Castor1 T A 11: 4,171,689 (GRCm39) H304Q probably damaging Het
Ccnd2 A G 6: 127,127,580 (GRCm39) Y53H probably benign Het
Cd101 T A 3: 100,926,002 (GRCm39) D239V probably damaging Het
Ces1g T A 8: 94,052,428 (GRCm39) Q287L probably benign Het
Cfap43 C T 19: 47,885,371 (GRCm39) A415T possibly damaging Het
Cfap74 A G 4: 155,540,149 (GRCm39) probably benign Het
Crnn A G 3: 93,056,456 (GRCm39) K414R probably benign Het
Csf1 A G 3: 107,656,212 (GRCm39) L273P possibly damaging Het
Dab2ip T G 2: 35,600,003 (GRCm39) H206Q probably benign Het
Dipk2a T C 9: 94,419,745 (GRCm39) S62G probably damaging Het
Diras2 A G 13: 52,662,083 (GRCm39) S75P probably damaging Het
Dst T C 1: 34,218,831 (GRCm39) V1757A probably benign Het
Dus4l A T 12: 31,690,807 (GRCm39) H281Q probably damaging Het
Fat1 T C 8: 45,478,922 (GRCm39) V2656A possibly damaging Het
Ffar1 A C 7: 30,560,204 (GRCm39) L231R probably damaging Het
Gab1 T C 8: 81,527,018 (GRCm39) K27E probably damaging Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
H2-T5 A C 17: 36,479,377 (GRCm39) L8R probably damaging Het
Irx6 T C 8: 93,404,145 (GRCm39) probably null Het
Mcrs1 C A 15: 99,141,569 (GRCm39) R376L probably damaging Het
Mrgprb1 T A 7: 48,097,719 (GRCm39) L64F possibly damaging Het
Nck2 T G 1: 43,593,552 (GRCm39) V253G probably benign Het
Paip1 C T 13: 119,566,702 (GRCm39) T12M possibly damaging Het
Pdpk1 A T 17: 24,317,095 (GRCm39) L256Q probably damaging Het
Perm1 A G 4: 156,302,752 (GRCm39) D432G probably benign Het
Psg25 A T 7: 18,258,709 (GRCm39) Y322* probably null Het
Pzp G A 6: 128,466,011 (GRCm39) A1223V probably damaging Het
Rassf8 A T 6: 145,761,268 (GRCm39) Y198F probably benign Het
Repin1 A G 6: 48,573,365 (GRCm39) Q42R probably benign Het
Sirpb1b A C 3: 15,613,729 (GRCm39) C51G probably damaging Het
Snx13 C T 12: 35,150,643 (GRCm39) Q316* probably null Het
Spesp1 A G 9: 62,189,331 (GRCm39) V5A possibly damaging Het
Sprr2e G A 3: 92,260,370 (GRCm39) C67Y unknown Het
Tcaf3 G A 6: 42,573,697 (GRCm39) P172S probably damaging Het
Tmem126b A G 7: 90,120,155 (GRCm39) I72T probably benign Het
Tmem17 G T 11: 22,468,624 (GRCm39) V188L probably benign Het
Tnfrsf1b T C 4: 144,955,678 (GRCm39) probably null Het
Tshz2 A T 2: 169,725,944 (GRCm39) Q180L probably damaging Het
Ttc41 A T 10: 86,612,494 (GRCm39) I1256F probably damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Ywhag G T 5: 135,940,119 (GRCm39) H158Q probably benign Het
Other mutations in Faah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Faah APN 4 115,865,480 (GRCm39) missense possibly damaging 0.85
IGL03355:Faah APN 4 115,859,725 (GRCm39) missense probably benign 0.28
R0013:Faah UTSW 4 115,861,588 (GRCm39) missense probably damaging 1.00
R0387:Faah UTSW 4 115,862,889 (GRCm39) nonsense probably null
R0727:Faah UTSW 4 115,862,257 (GRCm39) missense probably damaging 1.00
R1405:Faah UTSW 4 115,858,345 (GRCm39) missense probably damaging 1.00
R1405:Faah UTSW 4 115,858,345 (GRCm39) missense probably damaging 1.00
R1465:Faah UTSW 4 115,856,755 (GRCm39) missense probably damaging 1.00
R1465:Faah UTSW 4 115,856,755 (GRCm39) missense probably damaging 1.00
R1861:Faah UTSW 4 115,865,432 (GRCm39) missense probably benign 0.45
R2062:Faah UTSW 4 115,855,770 (GRCm39) missense probably damaging 1.00
R4926:Faah UTSW 4 115,856,823 (GRCm39) intron probably benign
R5162:Faah UTSW 4 115,857,938 (GRCm39) intron probably benign
R5449:Faah UTSW 4 115,856,692 (GRCm39) splice site probably null
R6236:Faah UTSW 4 115,856,786 (GRCm39) missense probably benign 0.03
R6370:Faah UTSW 4 115,860,253 (GRCm39) missense probably damaging 1.00
R6569:Faah UTSW 4 115,874,829 (GRCm39) missense probably benign
R7384:Faah UTSW 4 115,862,364 (GRCm39) missense probably damaging 1.00
R9432:Faah UTSW 4 115,874,772 (GRCm39) missense probably benign
X0024:Faah UTSW 4 115,860,176 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- ATATGAAGCTTCAGGGCCCC -3'
(R):5'- ACACTACCTTGTGGTCTCTGG -3'

Sequencing Primer
(F):5'- ACCACGTGAACTCAGACT -3'
(R):5'- GGCAGGCATGGTCTCTTCATC -3'
Posted On 2016-09-01