Incidental Mutation 'R9476:Pam'
ID 715746
Institutional Source Beutler Lab
Gene Symbol Pam
Ensembl Gene ENSMUSG00000026335
Gene Name peptidylglycine alpha-amidating monooxygenase
Synonyms PHM
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9476 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 97748816-98023578 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 97826065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000057112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058762] [ENSMUST00000097625] [ENSMUST00000161567]
AlphaFold P97467
Predicted Effect probably null
Transcript: ENSMUST00000058762
SMART Domains Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335

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 null
Transcript: ENSMUST00000097625
SMART Domains Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335

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: ENSMUST00000159841
SMART Domains Protein: ENSMUSP00000124479
Gene: ENSMUSG00000026335

DomainStartEndE-ValueType
Pfam:Cu2_monoox_C 1 53 4.3e-15 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161567
SMART Domains Protein: ENSMUSP00000125418
Gene: ENSMUSG00000026335

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578G10Rik T G 4: 42,760,998 (GRCm39) W6G unknown Het
Aatk A T 11: 119,901,094 (GRCm39) C1101S probably benign Het
Abcb4 A T 5: 8,977,790 (GRCm39) D456V probably damaging Het
Abcc8 T C 7: 45,819,270 (GRCm39) E186G possibly damaging Het
Adam18 T C 8: 25,115,807 (GRCm39) N629S probably benign Het
Angpt2 T G 8: 18,764,143 (GRCm39) N133T probably benign Het
Ankrd13c T A 3: 157,697,396 (GRCm39) S334T probably benign Het
Ankrd13d A T 19: 4,320,289 (GRCm39) S151T unknown Het
Ap3d1 G A 10: 80,545,655 (GRCm39) P1025S probably benign Het
Bhlhe41 G A 6: 145,808,948 (GRCm39) A288V possibly damaging Het
Cacna1b T C 2: 24,540,058 (GRCm39) E1467G probably damaging Het
Cacna1h T A 17: 25,611,524 (GRCm39) T425S probably damaging Het
Cdk13 A C 13: 17,902,747 (GRCm39) C934W probably damaging Het
Ces1b T A 8: 93,799,890 (GRCm39) N162I probably damaging Het
Clec9a T A 6: 129,398,023 (GRCm39) I187K possibly damaging Het
Cpsf3 A G 12: 21,350,080 (GRCm39) I266M probably damaging Het
Cr2 G T 1: 194,840,416 (GRCm39) L509M probably damaging Het
Creb3l2 C A 6: 37,311,446 (GRCm39) G448W probably damaging Het
Csmd1 T A 8: 15,981,215 (GRCm39) probably null Het
Cul9 G A 17: 46,821,833 (GRCm39) R1881W probably damaging Het
Cyth1 C T 11: 118,076,206 (GRCm39) probably null Het
Dnhd1 A T 7: 105,352,889 (GRCm39) N2681Y possibly damaging Het
Dnm1 T C 2: 32,213,739 (GRCm39) M476V probably benign Het
Dnmt3a A G 12: 3,957,707 (GRCm39) H896R probably damaging Het
Dock1 T G 7: 134,592,279 (GRCm39) I938S probably benign Het
Dock6 G A 9: 21,724,821 (GRCm39) L1515F probably damaging Het
Dusp16 T C 6: 134,695,226 (GRCm39) H535R probably benign Het
Fancd2os T A 6: 113,574,994 (GRCm39) Y4F probably damaging Het
Fat4 A T 3: 39,037,886 (GRCm39) Q3846L probably benign Het
Fbxw10 A C 11: 62,743,814 (GRCm39) H240P probably benign Het
Frmd4a A G 2: 4,608,324 (GRCm39) T731A probably benign Het
Gm44501 T A 17: 40,889,820 (GRCm39) H111Q possibly damaging Het
Gsdmc T C 15: 63,650,551 (GRCm39) M277V probably benign Het
Hira A G 16: 18,772,789 (GRCm39) D867G probably damaging Het
Hmcn1 A G 1: 150,462,127 (GRCm39) S5184P probably benign Het
Ighv1-26 A C 12: 114,752,407 (GRCm39) F7V probably benign Het
Igkv4-81 C T 6: 68,967,796 (GRCm39) E102K possibly damaging Het
Inmt G T 6: 55,147,990 (GRCm39) S213Y possibly damaging Het
Ints2 T A 11: 86,135,335 (GRCm39) M360L probably benign Het
Itih3 A G 14: 30,631,416 (GRCm39) S827P probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kcnk12 C A 17: 88,054,122 (GRCm39) R180L probably benign Het
Kndc1 G A 7: 139,510,031 (GRCm39) S1291N probably benign Het
Mettl21a T C 1: 64,647,285 (GRCm39) T91A probably damaging Het
Mmrn2 A G 14: 34,120,407 (GRCm39) I426V possibly damaging Het
Mrpl21 T G 19: 3,337,704 (GRCm39) V137G probably damaging Het
Nrbp2 T C 15: 75,961,626 (GRCm39) N218S probably damaging Het
Nrip1 T C 16: 76,089,820 (GRCm39) N579S probably benign Het
Nsf T C 11: 103,763,988 (GRCm39) N365S probably damaging Het
Or6c5 A G 10: 129,074,656 (GRCm39) I213V probably damaging Het
Or7g28 A T 9: 19,272,383 (GRCm39) D89E probably benign Het
Osbpl3 C T 6: 50,313,194 (GRCm39) probably null Het
Oscar T A 7: 3,614,843 (GRCm39) H43L probably benign Het
Parn A T 16: 13,358,942 (GRCm39) M600K probably benign Het
Pcdha11 C A 18: 37,139,532 (GRCm39) T387N probably benign Het
Plce1 G A 19: 38,766,337 (GRCm39) E2121K possibly damaging Het
Prune2 T A 19: 17,096,706 (GRCm39) Y737N possibly damaging Het
Ptch1 G A 13: 63,681,448 (GRCm39) P613L probably benign Het
Ptprt A C 2: 161,397,381 (GRCm39) C1129G probably damaging Het
Rara C T 11: 98,860,983 (GRCm39) S157L probably benign Het
Rest T A 5: 77,416,098 (GRCm39) M104K probably damaging Het
Rfc1 A G 5: 65,437,142 (GRCm39) S513P probably damaging Het
Rnf40 T A 7: 127,201,808 (GRCm39) I1000N probably damaging Het
Scube2 C T 7: 109,430,969 (GRCm39) G410E probably damaging Het
Sh3gl2 A G 4: 85,304,089 (GRCm39) E264G probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Smc4 T G 3: 68,914,662 (GRCm39) S92A probably damaging Het
Spata31d1b A G 13: 59,863,467 (GRCm39) D205G probably benign Het
Spata31e4 A G 13: 50,856,149 (GRCm39) T596A possibly damaging Het
Spef2 T C 15: 9,713,203 (GRCm39) R390G probably damaging Het
Speg T C 1: 75,377,768 (GRCm39) F842S probably damaging Het
Stk17b G T 1: 53,796,898 (GRCm39) H290N probably damaging Het
Stpg3 A T 2: 25,103,516 (GRCm39) V191D probably benign Het
Supt6 C T 11: 78,120,290 (GRCm39) R350H probably damaging Het
Tet3 T C 6: 83,380,935 (GRCm39) E411G possibly damaging Het
Tet3 T A 6: 83,381,808 (GRCm39) probably null Het
Tns3 A G 11: 8,395,702 (GRCm39) I1234T probably damaging Het
Trim34b A G 7: 103,980,503 (GRCm39) E197G probably damaging Het
Vcan G T 13: 89,851,531 (GRCm39) T1143K possibly damaging Het
Vmn2r61 T A 7: 41,949,593 (GRCm39) V671E probably damaging Het
Wdtc1 A G 4: 133,049,529 (GRCm39) V29A probably damaging Het
Zfp462 G A 4: 55,080,735 (GRCm39) M2450I probably benign Het
Zfp869 A T 8: 70,159,849 (GRCm39) C241* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- ACAACGACTCTAGCTTTTCACTG -3'
(R):5'- CAAGTGTCGCACAAGCTGATG -3'

Sequencing Primer
(F):5'- CTGAAGCCTTTCATAAGACAGCTG -3'
(R):5'- GTCGCACAAGCTGATGTTTTAACC -3'
Posted On 2022-06-15