Incidental Mutation 'R4563:Pafah1b2'
ID 343202
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 041788-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.635) question?
Stock # R4563 (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 45887404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 36 (K36E)
Ref Sequence ENSEMBL: ENSMUSP00000148931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172450] [ENSMUST00000213853] [ENSMUST00000214179] [ENSMUST00000215060] [ENSMUST00000215427] [ENSMUST00000216334] [ENSMUST00000217514] [ENSMUST00000217636]
AlphaFold Q61206
Predicted Effect probably benign
Transcript: ENSMUST00000172450
AA Change: K36E

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127851
Gene: ENSMUSG00000003131
AA Change: K36E

DomainStartEndE-ValueType
Pfam:Lipase_GDSL 42 209 6.6e-9 PFAM
Pfam:Lipase_GDSL_2 43 205 3.6e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213853
AA Change: K36E

PolyPhen 2 Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000214179
AA Change: K36E

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000215060
AA Change: K36E

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000215427
AA Change: K36E

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000216334
Predicted Effect probably damaging
Transcript: ENSMUST00000217514
AA Change: K36E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217636
AA Change: K36E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.2659 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (40/40)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A G 12: 21,382,089 (GRCm39) C591R probably damaging Het
Bace2 G A 16: 97,223,180 (GRCm39) R368Q probably damaging Het
Calm5 C A 13: 3,904,402 (GRCm39) S32* probably null Het
Ccdc198 T A 14: 49,471,955 (GRCm39) M152L probably benign Het
Cln3 G T 7: 126,171,730 (GRCm39) S346R probably damaging Het
G6pd2 G A 5: 61,967,686 (GRCm39) R487H possibly damaging Het
Glipr2 A T 4: 43,977,600 (GRCm39) N77Y probably damaging Het
Huwe1 A T X: 150,646,955 (GRCm39) I682F probably damaging Het
Kbtbd2 A G 6: 56,766,264 (GRCm39) V37A probably benign Het
Kdm7a C T 6: 39,129,757 (GRCm39) R473Q probably damaging Het
Lrrc71 T A 3: 87,652,715 (GRCm39) probably benign Het
Mcm3 G T 1: 20,879,869 (GRCm39) R543S probably benign Het
Mgat4a T C 1: 37,505,660 (GRCm39) D43G probably damaging Het
Mphosph8 T C 14: 56,928,457 (GRCm39) Y703H probably benign Het
Ncf2 T C 1: 152,683,976 (GRCm39) probably benign Het
Nek6 T G 2: 38,475,305 (GRCm39) V282G probably damaging Het
Nhlrc1 T C 13: 47,167,666 (GRCm39) D197G possibly damaging Het
Nup93 G T 8: 95,034,520 (GRCm39) V612F probably damaging Het
Or5be3 C T 2: 86,864,028 (GRCm39) C179Y probably damaging Het
Or9i14 A G 19: 13,792,646 (GRCm39) F103L probably benign Het
Paqr9 A G 9: 95,442,997 (GRCm39) E329G probably benign Het
Pclo A G 5: 14,571,383 (GRCm39) Q256R probably damaging Het
Pctp A T 11: 89,879,578 (GRCm39) D94E probably benign Het
Pde8a T A 7: 80,958,568 (GRCm39) Y315* probably null Het
Pex14 A T 4: 149,126,225 (GRCm39) V41D probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rasal2 T C 1: 157,003,561 (GRCm39) K366R probably damaging Het
Rprd1a A C 18: 24,640,160 (GRCm39) probably null Het
Senp8 A C 9: 59,657,546 (GRCm39) M1R probably null Het
Slc49a4 T C 16: 35,518,312 (GRCm39) Y467C probably damaging Het
Slco1b2 A G 6: 141,616,893 (GRCm39) T409A probably benign Het
Strc T C 2: 121,196,286 (GRCm39) T1581A probably benign Het
Tmem117 T C 15: 94,536,035 (GRCm39) I23T possibly damaging Het
Ttc13 A G 8: 125,402,016 (GRCm39) L657P probably damaging Het
Ube4b A G 4: 149,443,622 (GRCm39) probably benign Het
Vmn1r125 A G 7: 21,006,308 (GRCm39) T69A probably damaging Het
Other mutations in Pafah1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02337:Pafah1b2 APN 9 45,884,287 (GRCm39) missense probably benign 0.00
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
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'- GGATCGGCTTCCCTTGTACTTG -3'
(R):5'- ATTAATTTGCAGTCAGCTCCAG -3'

Sequencing Primer
(F):5'- GGCACTCTTTCTCTGAATCCTAAG -3'
(R):5'- CTAAAAAGGATGGATGGTTTGGTTAC -3'
Posted On 2015-09-24