Incidental Mutation 'IGL02024:Porcn'
ID 184082
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Porcn
Ensembl Gene ENSMUSG00000031169
Gene Name porcupine O-acyltransferase
Synonyms porc, 2410004O13Rik, DXHXS7465e, mMg61, Mporc
Accession Numbers
Essential gene? Not available question?
Stock # IGL02024
Quality Score
Status
Chromosome X
Chromosomal Location 8060087-8072764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8067901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 233 (V233I)
Ref Sequence ENSEMBL: ENSMUSP00000086825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077595] [ENSMUST00000082320] [ENSMUST00000089402] [ENSMUST00000089403] [ENSMUST00000122943] [ENSMUST00000154695]
AlphaFold Q9JJJ7
Predicted Effect probably benign
Transcript: ENSMUST00000077595
AA Change: V239I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000076790
Gene: ENSMUSG00000031169
AA Change: V239I

DomainStartEndE-ValueType
transmembrane domain 29 47 N/A INTRINSIC
Pfam:MBOAT 59 372 2.5e-22 PFAM
transmembrane domain 392 414 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000082320
SMART Domains Protein: ENSMUSP00000080937
Gene: ENSMUSG00000031169

DomainStartEndE-ValueType
transmembrane domain 29 47 N/A INTRINSIC
Pfam:MBOAT 61 397 3.9e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089402
SMART Domains Protein: ENSMUSP00000086824
Gene: ENSMUSG00000031169

DomainStartEndE-ValueType
transmembrane domain 29 47 N/A INTRINSIC
Pfam:MBOAT 61 391 4.5e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089403
AA Change: V233I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000086825
Gene: ENSMUSG00000031169
AA Change: V233I

DomainStartEndE-ValueType
transmembrane domain 29 47 N/A INTRINSIC
Pfam:MBOAT 61 396 1.8e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122943
SMART Domains Protein: ENSMUSP00000138626
Gene: ENSMUSG00000031169

DomainStartEndE-ValueType
low complexity region 56 85 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139744
Predicted Effect probably benign
Transcript: ENSMUST00000154695
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Disruption of this gene is associated with focal dermal hypoplasia, and the encoded protein has been implicated in cancer. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a conditional allele activated in the epiblast exhibit abnormal mesoderm development, dermal atrophy, sternum hypoplasia, cleft palate, tail hypoplasia, absence of the autopod, abnormal hair follicle development, and perinatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,113,705 (GRCm39) H246Y probably damaging Het
Abat G A 16: 8,429,000 (GRCm39) A322T probably damaging Het
Bcat1 A G 6: 144,978,564 (GRCm39) V152A probably damaging Het
Btaf1 A G 19: 36,969,826 (GRCm39) probably benign Het
Elavl2 T C 4: 91,141,776 (GRCm39) T291A probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Fcgbp G A 7: 27,805,799 (GRCm39) C2026Y probably damaging Het
Fcgrt T A 7: 44,744,682 (GRCm39) H258L probably damaging Het
Galnt6 C T 15: 100,601,374 (GRCm39) D302N probably benign Het
Gldc T A 19: 30,078,227 (GRCm39) R923S probably damaging Het
Hspg2 G T 4: 137,267,384 (GRCm39) A2033S probably damaging Het
Htr2c T A X: 145,858,921 (GRCm39) M77K probably damaging Het
Ifi208 A G 1: 173,510,856 (GRCm39) Y337C probably damaging Het
Ints11 G T 4: 155,972,972 (GRCm39) W554L probably damaging Het
Itgbl1 T A 14: 124,094,904 (GRCm39) C186S probably damaging Het
Lipf A G 19: 33,953,995 (GRCm39) Y362C probably damaging Het
Map2k7 T A 8: 4,297,663 (GRCm39) S421R possibly damaging Het
Mroh9 T G 1: 162,890,071 (GRCm39) N222T possibly damaging Het
Msl3 C A X: 167,453,247 (GRCm39) R89L probably benign Het
Nrip1 T A 16: 76,088,563 (GRCm39) D998V probably benign Het
Nrk T A X: 137,896,678 (GRCm39) I1265N probably damaging Het
Ntn5 A G 7: 45,340,830 (GRCm39) probably benign Het
Or11g27 A G 14: 50,771,307 (GRCm39) N146S probably benign Het
Or5w20 A T 2: 87,727,243 (GRCm39) R233S possibly damaging Het
Or6s1 T G 14: 51,308,766 (GRCm39) E28A probably benign Het
Plch2 T C 4: 155,127,595 (GRCm39) probably benign Het
Ppp2r2a T C 14: 67,276,361 (GRCm39) K48R probably benign Het
Ppp4r3c1 G A X: 88,975,129 (GRCm39) T356I probably benign Het
Rccd1 A T 7: 79,968,755 (GRCm39) D268E probably benign Het
Sacs C A 14: 61,427,127 (GRCm39) S178R probably damaging Het
Samd12 T A 15: 53,521,862 (GRCm39) D116V probably damaging Het
Slc12a8 A G 16: 33,428,568 (GRCm39) E46G probably damaging Het
Slc30a10 A T 1: 185,187,438 (GRCm39) I60F possibly damaging Het
Slc6a8 C T X: 72,722,583 (GRCm39) probably benign Het
Sos2 A G 12: 69,664,822 (GRCm39) probably benign Het
Tbc1d31 T C 15: 57,783,338 (GRCm39) V79A probably benign Het
Tmem184c A T 8: 78,331,443 (GRCm39) V102E probably benign Het
Ttc19 G T 11: 62,203,939 (GRCm39) R300I probably damaging Het
Unc5d T A 8: 29,142,855 (GRCm39) I866F probably benign Het
Vmn1r7 A T 6: 57,001,874 (GRCm39) C129S probably benign Het
Vps41 T A 13: 18,975,827 (GRCm39) probably benign Het
Vwa8 C T 14: 79,331,724 (GRCm39) A1275V possibly damaging Het
Other mutations in Porcn
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1978:Porcn UTSW X 8,070,540 (GRCm39) missense probably damaging 0.98
Posted On 2014-05-07