Incidental Mutation 'R0392:Pafah1b2'
ID 31762
Institutional Source Beutler Lab
Gene Symbol Pafah1b2
Ensembl Gene ENSMUSG00000003131
Gene Name platelet-activating factor acetylhydrolase, isoform 1b, subunit 2
Synonyms Pafahb, mus[b], PAF-AH 30
MMRRC Submission 038598-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.635) question?
Stock # R0392 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 45876609-45923988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45880151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 175 (I175M)
Ref Sequence ENSEMBL: ENSMUSP00000149819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172450] [ENSMUST00000213853] [ENSMUST00000214179] [ENSMUST00000215060]
AlphaFold Q61206
Predicted Effect probably benign
Transcript: ENSMUST00000172450
AA Change: I175M

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000127851
Gene: ENSMUSG00000003131
AA Change: I175M

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
Predicted Effect probably benign
Transcript: ENSMUST00000214179
AA Change: I175M

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000215060
AA Change: I175M

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.6%
Validation Efficiency 100% (31/31)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930527J03Rik ACCC ACC 1: 178,276,503 (GRCm38) noncoding transcript Het
Bcan T A 3: 87,900,869 (GRCm39) K455* probably null Het
Casp12 T A 9: 5,348,973 (GRCm39) probably benign Het
Ccdc61 T C 7: 18,625,027 (GRCm39) M504V probably benign Het
Cd53 A T 3: 106,670,592 (GRCm39) V147E probably damaging Het
Cyp2b13 T C 7: 25,785,308 (GRCm39) Y226H probably benign Het
Cyp2j7 T C 4: 96,087,671 (GRCm39) D413G probably damaging Het
Dcbld1 T C 10: 52,193,230 (GRCm39) I254T possibly damaging Het
Ddx39a T G 8: 84,448,366 (GRCm39) M206R probably damaging Het
Dgki T A 6: 36,977,113 (GRCm39) T666S probably damaging Het
Dnaaf8 T C 16: 4,795,363 (GRCm39) noncoding transcript Het
Dnah7a C A 1: 53,543,357 (GRCm39) C2271F probably damaging Het
Emilin3 A G 2: 160,752,799 (GRCm39) probably benign Het
Epha4 T C 1: 77,483,610 (GRCm39) K133R probably benign Het
Gm11146 T A 16: 77,394,054 (GRCm39) probably benign Het
Ift88 A T 14: 57,733,617 (GRCm39) probably benign Het
Ighv10-3 A G 12: 114,487,460 (GRCm39) probably benign Het
Lamp5 T C 2: 135,902,817 (GRCm39) S179P probably damaging Het
Map4 T C 9: 109,907,113 (GRCm39) S788P probably damaging Het
Or5m13 T A 2: 85,749,106 (GRCm39) I279N possibly damaging Het
Otog T C 7: 45,899,499 (GRCm39) W267R probably benign Het
Pcdhb12 A G 18: 37,570,011 (GRCm39) K386E possibly damaging Het
Pcnt T C 10: 76,220,660 (GRCm39) N2056S probably benign Het
Pold2 T C 11: 5,826,776 (GRCm39) I53V possibly damaging Het
Rsf1 T A 7: 97,328,212 (GRCm39) D1071E probably benign Het
Rtp3 A T 9: 110,818,621 (GRCm39) M20K probably damaging Het
S1pr5 T A 9: 21,156,277 (GRCm39) I50F probably damaging Het
Slc47a1 A G 11: 61,262,608 (GRCm39) S94P probably damaging Het
Slitrk5 G A 14: 111,916,465 (GRCm39) V30I probably benign Het
St8sia5 G A 18: 77,342,102 (GRCm39) V271M probably damaging Het
Sult2b1 G T 7: 45,383,062 (GRCm39) T240N probably damaging Het
Other mutations in Pafah1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02337:Pafah1b2 APN 9 45,884,287 (GRCm39) missense probably benign 0.00
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
Predicted Primers PCR Primer
(F):5'- AGCAATGGTGGTCTGCTTCTCCTC -3'
(R):5'- GCACTGCTTTAGAACAGGCTGACG -3'

Sequencing Primer
(F):5'- CCGGTGTTTCCTCCAGC -3'
(R):5'- TTTAGAACAGGCTGACGAGACC -3'
Posted On 2013-04-24