Incidental Mutation 'IGL02337:Pafah1b2'
ID 288908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pafah1b2
Ensembl Gene ENSMUSG00000003131
Gene Name platelet-activating factor acetylhydrolase, isoform 1b, subunit 2
Synonyms Pafahb, mus[b], PAF-AH 30
Accession Numbers
Essential gene? Possibly essential (E-score: 0.571) question?
Stock # IGL02337
Quality Score
Status
Chromosome 9
Chromosomal Location 45876609-45923988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45884287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 122 (V122I)
Ref Sequence ENSEMBL: ENSMUSP00000149819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172450] [ENSMUST00000213853] [ENSMUST00000214179] [ENSMUST00000215060] [ENSMUST00000215427] [ENSMUST00000217514] [ENSMUST00000217636]
AlphaFold Q61206
Predicted Effect probably benign
Transcript: ENSMUST00000172450
AA Change: V122I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000127851
Gene: ENSMUSG00000003131
AA Change: V122I

DomainStartEndE-ValueType
Pfam:Lipase_GDSL 42 209 6.6e-9 PFAM
Pfam:Lipase_GDSL_2 43 205 3.6e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213853
AA Change: V83I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000214179
AA Change: V122I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000215060
AA Change: V122I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215427
Predicted Effect probably benign
Transcript: ENSMUST00000217514
Predicted Effect probably benign
Transcript: ENSMUST00000217636
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Male homozygous null mice exhibit a significant reduction in testis size. In one allele, abnormal spermatogenesis and male infertility has been reported. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,247,662 (GRCm39) V403A probably benign Het
Afm A G 5: 90,695,770 (GRCm39) T426A probably benign Het
Atp8a2 T C 14: 60,235,451 (GRCm39) D697G probably benign Het
Barhl1 G T 2: 28,801,431 (GRCm39) S204R probably damaging Het
Ceacam11 T A 7: 17,707,550 (GRCm39) S111R probably benign Het
Cenpe A G 3: 134,926,037 (GRCm39) probably benign Het
Cnot11 G A 1: 39,583,964 (GRCm39) probably benign Het
Ctc1 A G 11: 68,916,957 (GRCm39) T284A probably damaging Het
Ephb3 A G 16: 21,040,253 (GRCm39) probably null Het
Fsip1 T A 2: 118,082,195 (GRCm39) K80* probably null Het
Gaa G T 11: 119,168,429 (GRCm39) G220C probably damaging Het
Gna15 T C 10: 81,350,244 (GRCm39) S53G probably damaging Het
Hfm1 A T 5: 107,052,133 (GRCm39) M321K possibly damaging Het
Hgfac C A 5: 35,199,722 (GRCm39) T68K probably benign Het
Hmgxb4 C T 8: 75,726,259 (GRCm39) R35W probably damaging Het
Itfg2 T C 6: 128,390,533 (GRCm39) D184G probably benign Het
Kirrel1 G A 3: 86,996,519 (GRCm39) T360I possibly damaging Het
Lrp1 T C 10: 127,412,756 (GRCm39) Q1240R possibly damaging Het
Lrrk1 G T 7: 65,929,164 (GRCm39) T1156N possibly damaging Het
Olfm1 A G 2: 28,119,697 (GRCm39) Y429C probably damaging Het
Or4k77 T G 2: 111,199,496 (GRCm39) V173G probably benign Het
Or5t5 T A 2: 86,616,518 (GRCm39) M148K probably damaging Het
Pdcd1 T C 1: 93,968,582 (GRCm39) T151A probably benign Het
Pkd1l1 T C 11: 8,892,079 (GRCm39) S697G probably damaging Het
Rgs12 T A 5: 35,177,697 (GRCm39) F96I probably damaging Het
Sptbn4 T C 7: 27,127,672 (GRCm39) D176G probably benign Het
Tarbp2 C A 15: 102,430,428 (GRCm39) Q148K probably damaging Het
Txk T C 5: 72,864,889 (GRCm39) R329G possibly damaging Het
Unc79 T A 12: 103,122,705 (GRCm39) probably benign Het
Vmn1r73 C A 7: 11,490,640 (GRCm39) P153T possibly damaging Het
Zeb2 G A 2: 44,887,242 (GRCm39) T605I probably damaging Het
Zfp654 A G 16: 64,605,512 (GRCm39) S897P probably benign Het
Other mutations in Pafah1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0392:Pafah1b2 UTSW 9 45,880,151 (GRCm39) missense probably benign 0.04
R0579:Pafah1b2 UTSW 9 45,880,011 (GRCm39) missense probably benign 0.00
R2078:Pafah1b2 UTSW 9 45,880,127 (GRCm39) missense probably damaging 0.96
R4563:Pafah1b2 UTSW 9 45,887,404 (GRCm39) missense probably damaging 1.00
R5941:Pafah1b2 UTSW 9 45,887,405 (GRCm39) nonsense probably null
R6306:Pafah1b2 UTSW 9 45,886,425 (GRCm39) missense probably damaging 1.00
R7383:Pafah1b2 UTSW 9 45,880,147 (GRCm39) missense probably benign 0.00
R8147:Pafah1b2 UTSW 9 45,895,147 (GRCm39) critical splice donor site probably null
R9481:Pafah1b2 UTSW 9 45,884,284 (GRCm39) nonsense probably null
Posted On 2015-04-16