Incidental Mutation 'IGL01981:Pam'
ID 183469
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pam
Ensembl Gene ENSMUSG00000026335
Gene Name peptidylglycine alpha-amidating monooxygenase
Synonyms PHM
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01981
Quality Score
Status
Chromosome 1
Chromosomal Location 97748816-98023578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 97762166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 700 (V700M)
Ref Sequence ENSEMBL: ENSMUSP00000125418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058762] [ENSMUST00000097625] [ENSMUST00000161567]
AlphaFold P97467
Predicted Effect probably damaging
Transcript: ENSMUST00000058762
AA Change: V806M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335
AA Change: V806M

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Cu2_monooxygen 62 178 7.8e-27 PFAM
Pfam:Cu2_monoox_C 199 346 6.2e-47 PFAM
Pfam:NHL 633 662 2.1e-8 PFAM
low complexity region 673 680 N/A INTRINSIC
Pfam:NHL 686 714 2.7e-8 PFAM
Pfam:NHL 782 809 2.8e-7 PFAM
transmembrane domain 870 892 N/A INTRINSIC
low complexity region 908 930 N/A INTRINSIC
low complexity region 950 969 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097625
AA Change: V806M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335
AA Change: V806M

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Cu2_monooxygen 60 183 3.7e-34 PFAM
Pfam:Cu2_monoox_C 198 349 1.4e-54 PFAM
Pfam:NHL 581 608 9.4e-9 PFAM
Pfam:NHL 633 662 2.1e-8 PFAM
low complexity region 673 680 N/A INTRINSIC
Pfam:NHL 686 714 2.2e-8 PFAM
Pfam:NHL 782 809 3.6e-8 PFAM
transmembrane domain 869 891 N/A INTRINSIC
low complexity region 907 929 N/A INTRINSIC
low complexity region 949 968 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159041
SMART Domains Protein: ENSMUSP00000124284
Gene: ENSMUSG00000026335

DomainStartEndE-ValueType
low complexity region 37 44 N/A INTRINSIC
Pfam:NHL 50 78 4.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159585
Predicted Effect probably damaging
Transcript: ENSMUST00000161567
AA Change: V700M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125418
Gene: ENSMUSG00000026335
AA Change: V700M

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Cu2_monooxygen 60 183 3.2e-34 PFAM
Pfam:Cu2_monoox_C 198 349 1.2e-54 PFAM
Pfam:NHL 475 502 8.3e-9 PFAM
Pfam:NHL 527 556 1.9e-8 PFAM
low complexity region 567 574 N/A INTRINSIC
Pfam:NHL 580 608 1.9e-8 PFAM
Pfam:NHL 676 703 3.2e-8 PFAM
transmembrane domain 764 786 N/A INTRINSIC
low complexity region 802 824 N/A INTRINSIC
low complexity region 844 863 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000162681
AA Change: V101M
SMART Domains Protein: ENSMUSP00000125133
Gene: ENSMUSG00000026335
AA Change: V101M

DomainStartEndE-ValueType
Pfam:NHL 78 105 6.2e-8 PFAM
low complexity region 160 179 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162803
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 encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality during fetal growth and development, edema, abnormal yolk sac vasculature, thin arterial walls, and abnormal bronchial epithelial morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Jhy A T 9: 40,806,842 (GRCm39) I769N probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N probably benign Het
Other mutations in Pam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Pam APN 1 97,852,152 (GRCm39) splice site probably benign
IGL00485:Pam APN 1 97,750,678 (GRCm39) missense possibly damaging 0.78
IGL00597:Pam APN 1 97,762,169 (GRCm39) missense probably benign 0.02
IGL01585:Pam APN 1 97,792,197 (GRCm39) missense probably damaging 0.99
IGL01776:Pam APN 1 97,813,325 (GRCm39) critical splice donor site probably null
IGL02152:Pam APN 1 97,768,474 (GRCm39) missense probably damaging 1.00
IGL02605:Pam APN 1 97,768,064 (GRCm39) missense possibly damaging 0.85
IGL02882:Pam APN 1 97,768,092 (GRCm39) missense probably damaging 1.00
IGL03142:Pam APN 1 97,822,111 (GRCm39) missense probably damaging 1.00
IGL03409:Pam APN 1 97,792,054 (GRCm39) missense probably benign 0.04
R0084:Pam UTSW 1 97,823,774 (GRCm39) missense probably benign 0.01
R0200:Pam UTSW 1 97,822,126 (GRCm39) splice site probably null
R0520:Pam UTSW 1 97,811,920 (GRCm39) missense probably benign 0.00
R0734:Pam UTSW 1 97,792,087 (GRCm39) nonsense probably null
R1881:Pam UTSW 1 97,850,876 (GRCm39) missense probably benign 0.06
R2040:Pam UTSW 1 97,792,167 (GRCm39) missense possibly damaging 0.55
R2106:Pam UTSW 1 97,759,215 (GRCm39) missense probably damaging 1.00
R2913:Pam UTSW 1 97,850,854 (GRCm39) missense probably damaging 1.00
R3148:Pam UTSW 1 97,823,403 (GRCm39) missense possibly damaging 0.84
R3618:Pam UTSW 1 97,762,157 (GRCm39) missense probably damaging 1.00
R3619:Pam UTSW 1 97,762,157 (GRCm39) missense probably damaging 1.00
R3847:Pam UTSW 1 97,782,481 (GRCm39) intron probably benign
R3848:Pam UTSW 1 97,782,481 (GRCm39) intron probably benign
R3849:Pam UTSW 1 97,782,481 (GRCm39) intron probably benign
R4128:Pam UTSW 1 97,762,193 (GRCm39) missense probably damaging 0.99
R4231:Pam UTSW 1 97,811,849 (GRCm39) critical splice donor site probably null
R4233:Pam UTSW 1 97,792,119 (GRCm39) missense possibly damaging 0.86
R4404:Pam UTSW 1 97,782,446 (GRCm39) intron probably benign
R4536:Pam UTSW 1 97,772,424 (GRCm39) nonsense probably null
R4738:Pam UTSW 1 97,850,857 (GRCm39) missense probably damaging 1.00
R5054:Pam UTSW 1 97,749,642 (GRCm39) missense probably damaging 1.00
R5501:Pam UTSW 1 97,768,090 (GRCm39) nonsense probably null
R5572:Pam UTSW 1 97,782,469 (GRCm39) intron probably benign
R5654:Pam UTSW 1 97,792,123 (GRCm39) missense probably benign 0.00
R5659:Pam UTSW 1 97,770,024 (GRCm39) missense probably damaging 1.00
R6112:Pam UTSW 1 97,762,193 (GRCm39) missense probably damaging 0.99
R6513:Pam UTSW 1 97,765,752 (GRCm39) missense possibly damaging 0.60
R6696:Pam UTSW 1 97,813,452 (GRCm39) missense possibly damaging 0.79
R6743:Pam UTSW 1 97,823,774 (GRCm39) missense probably benign 0.01
R6833:Pam UTSW 1 97,765,717 (GRCm39) missense probably damaging 0.99
R6834:Pam UTSW 1 97,765,717 (GRCm39) missense probably damaging 0.99
R7098:Pam UTSW 1 97,826,072 (GRCm39) missense probably benign
R7117:Pam UTSW 1 97,904,841 (GRCm39) start gained probably benign
R7152:Pam UTSW 1 97,813,465 (GRCm39) missense probably damaging 1.00
R7172:Pam UTSW 1 97,762,203 (GRCm39) missense probably benign 0.10
R7206:Pam UTSW 1 97,823,757 (GRCm39) missense probably damaging 1.00
R7262:Pam UTSW 1 97,782,448 (GRCm39) missense
R7434:Pam UTSW 1 97,903,515 (GRCm39) nonsense probably null
R7466:Pam UTSW 1 97,769,972 (GRCm39) missense probably damaging 1.00
R7513:Pam UTSW 1 97,780,910 (GRCm39) missense possibly damaging 0.88
R7790:Pam UTSW 1 97,749,572 (GRCm39) missense probably damaging 1.00
R8054:Pam UTSW 1 97,768,114 (GRCm39) missense probably damaging 1.00
R8093:Pam UTSW 1 97,813,357 (GRCm39) missense probably damaging 1.00
R8183:Pam UTSW 1 97,762,199 (GRCm39) missense probably benign 0.08
R8404:Pam UTSW 1 97,823,358 (GRCm39) missense probably damaging 1.00
R8734:Pam UTSW 1 97,762,127 (GRCm39) splice site probably benign
R9092:Pam UTSW 1 97,791,976 (GRCm39) missense probably benign 0.00
R9229:Pam UTSW 1 97,753,660 (GRCm39) missense probably benign 0.02
R9261:Pam UTSW 1 97,903,620 (GRCm39) missense probably benign 0.00
R9409:Pam UTSW 1 97,749,585 (GRCm39) missense probably damaging 1.00
R9435:Pam UTSW 1 97,822,144 (GRCm39) missense probably benign 0.00
R9476:Pam UTSW 1 97,826,065 (GRCm39) critical splice donor site probably null
R9500:Pam UTSW 1 97,772,325 (GRCm39) missense probably benign 0.01
R9510:Pam UTSW 1 97,826,065 (GRCm39) critical splice donor site probably null
R9653:Pam UTSW 1 97,768,469 (GRCm39) missense possibly damaging 0.60
Z1176:Pam UTSW 1 97,862,448 (GRCm39) missense probably benign 0.01
Posted On 2014-05-07