Incidental Mutation 'R2078:Pafah1b2'
ID229287
Institutional Source Beutler Lab
Gene Symbol Pafah1b2
Ensembl Gene ENSMUSG00000003131
Gene Nameplatelet-activating factor acetylhydrolase, isoform 1b, subunit 2
SynonymsPAF-AH 30, Pafahb, mus[b]
MMRRC Submission 040083-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.853) question?
Stock #R2078 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location45962859-46012690 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 45968829 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 183 (D183E)
Ref Sequence ENSEMBL: ENSMUSP00000149819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172450] [ENSMUST00000213853] [ENSMUST00000214179] [ENSMUST00000215060]
Predicted Effect probably damaging
Transcript: ENSMUST00000172450
AA Change: D183E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127851
Gene: ENSMUSG00000003131
AA Change: D183E

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 damaging
Transcript: ENSMUST00000214179
AA Change: D183E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000215060
AA Change: D183E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 C A 1: 75,172,136 G55C probably damaging Het
Acss3 T C 10: 106,967,041 T448A possibly damaging Het
Atxn7 A G 14: 14,052,975 N138D probably damaging Het
Cacna2d4 A T 6: 119,338,116 D869V probably benign Het
Cps1 T G 1: 67,157,806 Y339D probably damaging Het
Cps1 T C 1: 67,195,265 I937T possibly damaging Het
Dlgap4 T C 2: 156,762,826 S261P probably damaging Het
Dusp6 T C 10: 99,263,824 Y45H probably damaging Het
Ebag9 A G 15: 44,636,804 N157S probably damaging Het
Exoc4 A G 6: 33,910,587 D770G probably benign Het
Ezr A G 17: 6,782,642 M1T probably null Het
Fat4 A G 3: 38,889,673 N905S probably damaging Het
Fcrlb C G 1: 170,908,081 R208P probably damaging Het
Flnb T C 14: 7,927,466 V1892A probably damaging Het
Gas2 G A 7: 51,897,325 V75M probably benign Het
Gda T A 19: 21,400,672 D267V probably damaging Het
Gper1 A T 5: 139,426,133 I78F probably benign Het
Hectd1 A C 12: 51,748,542 I2368S probably damaging Het
Katna1 C T 10: 7,743,569 P114S probably benign Het
Lce3c G A 3: 92,945,451 S73N unknown Het
Lrfn3 A T 7: 30,360,454 D115E possibly damaging Het
Lrrc47 C A 4: 154,019,431 T505K probably damaging Het
Mertk C T 2: 128,794,458 T784I probably damaging Het
Mettl21e T A 1: 44,206,502 I195F possibly damaging Het
Mff T C 1: 82,741,921 S207P probably damaging Het
Mtmr6 A G 14: 60,291,987 probably null Het
Myh9 T C 15: 77,763,912 K1788R probably benign Het
Narf A G 11: 121,245,394 T199A probably benign Het
Neurod6 A G 6: 55,678,969 S228P probably benign Het
Notch4 A T 17: 34,568,715 probably null Het
Nyap2 T C 1: 81,191,981 L151P probably damaging Het
Olfr1444 T A 19: 12,862,387 V204E probably benign Het
P2ry1 A G 3: 61,003,697 I86V probably damaging Het
Phldb1 T C 9: 44,707,979 E179G probably damaging Het
Piezo2 T C 18: 63,117,720 E436G probably damaging Het
Pkhd1l1 A G 15: 44,527,767 I1514V probably benign Het
Plch1 A G 3: 63,701,943 S948P probably benign Het
Rfc5 A G 5: 117,380,803 V296A probably benign Het
Rnf150 A T 8: 83,003,605 I255F probably damaging Het
Rsbn1 A G 3: 103,961,523 D626G probably damaging Het
Sfswap A G 5: 129,516,107 D346G possibly damaging Het
Slc38a11 A T 2: 65,330,384 F289I possibly damaging Het
Terf2ip A G 8: 112,015,403 N243S probably benign Het
Tmed5 A T 5: 108,124,605 V209E probably damaging Het
Tmem63b A G 17: 45,663,536 S603P possibly damaging Het
Tomm20 T C 8: 126,937,072 M121V possibly damaging Het
Tspan33 G A 6: 29,709,971 V45I probably benign Het
Usp17la A T 7: 104,859,393 M1L probably benign Het
Vsig8 C A 1: 172,563,289 D301E probably benign Het
Vwa8 T A 14: 78,908,157 H91Q probably damaging Het
Other mutations in Pafah1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02337:Pafah1b2 APN 9 45972989 missense probably benign 0.00
R0392:Pafah1b2 UTSW 9 45968853 missense probably benign 0.04
R0579:Pafah1b2 UTSW 9 45968713 missense probably benign 0.00
R4563:Pafah1b2 UTSW 9 45976106 missense probably damaging 1.00
R5941:Pafah1b2 UTSW 9 45976107 nonsense probably null
R6306:Pafah1b2 UTSW 9 45975127 missense probably damaging 1.00
R7383:Pafah1b2 UTSW 9 45968849 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CGGGATGCTGTAACACTGATGG -3'
(R):5'- TGCAGGTAGAAGTTCAGTGG -3'

Sequencing Primer
(F):5'- TGTAACACTGATGGGCCAGTC -3'
(R):5'- TCAGTGGAATTGGGAAGCTC -3'
Posted On2014-09-17