Incidental Mutation 'IGL00485:Pam'
ID 7403
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 # IGL00485
Quality Score
Status
Chromosome 1
Chromosomal Location 97748816-98023578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97750678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 914 (V914A)
Ref Sequence ENSEMBL: ENSMUSP00000095228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058762] [ENSMUST00000097625] [ENSMUST00000161567]
AlphaFold P97467
Predicted Effect possibly damaging
Transcript: ENSMUST00000058762
AA Change: V915A

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335
AA Change: V915A

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 possibly damaging
Transcript: ENSMUST00000097625
AA Change: V914A

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335
AA Change: V914A

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: ENSMUST00000159585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160210
Predicted Effect possibly damaging
Transcript: ENSMUST00000161567
AA Change: V809A

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125418
Gene: ENSMUSG00000026335
AA Change: V809A

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 noncoding transcript
Transcript: ENSMUST00000162803
Predicted Effect probably benign
Transcript: ENSMUST00000162681
SMART Domains Protein: ENSMUSP00000125133
Gene: ENSMUSG00000026335

DomainStartEndE-ValueType
Pfam:NHL 78 105 6.2e-8 PFAM
low complexity region 160 179 N/A INTRINSIC
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,383,497 (GRCm39) probably benign Het
Arhgef37 G A 18: 61,656,942 (GRCm39) T41I probably damaging Het
Brms1 A C 19: 5,099,070 (GRCm39) probably benign Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Col4a2 A G 8: 11,489,012 (GRCm39) M1133V probably benign Het
Ctps1 T C 4: 120,410,141 (GRCm39) Y314C probably damaging Het
Defa30 T A 8: 21,625,467 (GRCm39) M77K probably benign Het
Eif3a T C 19: 60,758,328 (GRCm39) R817G unknown Het
Entrep1 G A 19: 23,962,086 (GRCm39) R306W probably damaging Het
Ftdc2 A G 16: 58,455,854 (GRCm39) Y140H probably damaging Het
Greb1l A G 18: 10,555,962 (GRCm39) S1725G possibly damaging Het
Hmgxb4 T C 8: 75,756,131 (GRCm39) S545P probably damaging Het
Hrob C T 11: 102,146,783 (GRCm39) S353F possibly damaging Het
Kif13b A G 14: 65,002,522 (GRCm39) E1049G possibly damaging Het
Mug1 T C 6: 121,864,375 (GRCm39) V1424A probably benign Het
Nlrp2 A G 7: 5,340,547 (GRCm39) V89A probably benign Het
Osbpl11 T G 16: 33,062,115 (GRCm39) W741G probably damaging Het
Phldb2 T A 16: 45,577,551 (GRCm39) I1117F possibly damaging Het
Pign A T 1: 105,525,448 (GRCm39) L460* probably null Het
Pramel31 G A 4: 144,090,012 (GRCm39) V351I probably damaging Het
Prdm10 A T 9: 31,238,842 (GRCm39) I196F possibly damaging Het
Stk36 T C 1: 74,673,244 (GRCm39) S1044P probably benign Het
Trim43b T C 9: 88,973,695 (GRCm39) T13A probably benign Het
Unc5b T C 10: 60,618,995 (GRCm39) Y49C possibly damaging Het
Urb2 T C 8: 124,755,433 (GRCm39) I380T probably damaging Het
Zfyve27 T A 19: 42,171,872 (GRCm39) C229S probably benign Het
Other mutations in Pam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Pam APN 1 97,852,152 (GRCm39) splice site probably benign
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
IGL01981:Pam APN 1 97,762,166 (GRCm39) missense probably damaging 1.00
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 2012-04-20