Incidental Mutation 'IGL02152:Pam'
ID282079
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pam
Ensembl Gene ENSMUSG00000026335
Gene Namepeptidylglycine alpha-amidating monooxygenase
SynonymsPHM
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02152
Quality Score
Status
Chromosome1
Chromosomal Location97795114-98095646 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 97840749 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 552 (R552Q)
Ref Sequence ENSEMBL: ENSMUSP00000125418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058762] [ENSMUST00000097625] [ENSMUST00000161567]
Predicted Effect probably damaging
Transcript: ENSMUST00000058762
AA Change: R658Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335
AA Change: R658Q

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: R658Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335
AA Change: R658Q

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 unknown
Transcript: ENSMUST00000159041
AA Change: R21Q
SMART Domains Protein: ENSMUSP00000124284
Gene: ENSMUSG00000026335
AA Change: R21Q

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 probably damaging
Transcript: ENSMUST00000161567
AA Change: R552Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125418
Gene: ENSMUSG00000026335
AA Change: R552Q

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 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
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A G 11: 76,003,225 I143V probably benign Het
1700028K03Rik A G 5: 107,548,117 T140A probably benign Het
4933430I17Rik T C 4: 62,542,754 Y289H possibly damaging Het
Adamts17 T A 7: 67,125,000 S956T probably benign Het
Adamts6 A T 13: 104,313,660 S290C probably null Het
Apaf1 A T 10: 91,061,819 H267Q probably benign Het
Aplp2 G A 9: 31,211,651 P26L unknown Het
Arid1b C T 17: 5,313,968 S1019F probably damaging Het
Armc3 G A 2: 19,286,137 probably null Het
Ass1 T C 2: 31,492,324 I169T probably damaging Het
Ccser1 A G 6: 61,311,708 D285G possibly damaging Het
Cenpf A G 1: 189,649,012 V2737A probably benign Het
Chrm5 A G 2: 112,480,568 Y68H probably damaging Het
Cops4 A G 5: 100,533,590 T164A probably benign Het
Cox4i1 A G 8: 120,672,865 S72G probably benign Het
Cpox A G 16: 58,674,424 T275A possibly damaging Het
Cyb5a T C 18: 84,873,156 I68T probably benign Het
Efna5 T C 17: 62,651,060 D67G probably benign Het
Enpp3 T C 10: 24,774,002 E842G probably damaging Het
Fam208b C T 13: 3,585,371 E479K probably benign Het
Fam210b A G 2: 172,351,503 K79E probably benign Het
Gm17359 T C 3: 79,345,532 I18T possibly damaging Het
Gm4799 T C 10: 82,954,755 noncoding transcript Het
Gpr146 A T 5: 139,392,712 R90W probably damaging Het
Hal A G 10: 93,503,542 I498V possibly damaging Het
Hist1h2af A G 13: 23,534,281 H124R probably benign Het
Hnrnpm C T 17: 33,658,412 G365R probably damaging Het
Jakmip3 A G 7: 139,025,488 D407G probably damaging Het
Kank1 A G 19: 25,428,172 I1185V possibly damaging Het
Kcnj16 A T 11: 111,025,210 M233L probably benign Het
Klhl5 A T 5: 65,148,800 Q370L probably damaging Het
L3hypdh C T 12: 72,077,143 probably null Het
Las1l A G X: 95,953,302 V130A probably damaging Het
Lrp2bp A T 8: 46,023,044 Y274F probably damaging Het
Morc2b T A 17: 33,137,943 K285M probably damaging Het
Mpp3 A T 11: 102,025,390 Y45* probably null Het
Muc4 T A 16: 32,777,649 probably benign Het
Muc5ac T C 7: 141,800,177 C837R possibly damaging Het
Mum1 A G 10: 80,239,978 D466G probably damaging Het
Nr2f6 T A 8: 71,376,166 I155F probably damaging Het
Nsg1 A G 5: 38,144,801 F50L probably benign Het
Olfr304 T A 7: 86,386,043 M206L probably benign Het
Ostf1 C A 19: 18,590,458 G101C probably damaging Het
Pkd1l3 A G 8: 109,669,292 N2108S probably damaging Het
Prkdc A T 16: 15,669,285 H484L probably benign Het
Rfx5 G A 3: 94,957,182 R213Q probably damaging Het
Ryr1 T C 7: 29,052,015 S3715G possibly damaging Het
Sall2 A G 14: 52,315,514 S73P probably damaging Het
Sec22c G A 9: 121,684,779 A264V probably benign Het
Sis A C 3: 72,888,986 probably benign Het
Spam1 T A 6: 24,800,803 probably benign Het
St13 T A 15: 81,366,382 I318F probably damaging Het
Syne1 T C 10: 5,424,382 I142V probably damaging Het
Trpm6 A T 19: 18,832,539 T1100S possibly damaging Het
Ttll6 G A 11: 96,135,540 W90* probably null Het
Txndc12 T A 4: 108,834,792 C9* probably null Het
Ubr7 C T 12: 102,768,276 Q270* probably null Het
Vps33b A G 7: 80,285,069 S302G probably benign Het
Xylt1 T A 7: 117,634,770 V508E probably damaging Het
Zbtb26 A T 2: 37,436,691 L111Q possibly damaging Het
Zfp410 T C 12: 84,332,928 probably benign Het
Zscan18 A T 7: 12,775,296 probably benign Het
Other mutations in Pam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Pam APN 1 97924427 splice site probably benign
IGL00485:Pam APN 1 97822953 missense possibly damaging 0.78
IGL00597:Pam APN 1 97834444 missense probably benign 0.02
IGL01585:Pam APN 1 97864472 missense probably damaging 0.99
IGL01776:Pam APN 1 97885600 critical splice donor site probably null
IGL01981:Pam APN 1 97834441 missense probably damaging 1.00
IGL02605:Pam APN 1 97840339 missense possibly damaging 0.85
IGL02882:Pam APN 1 97840367 missense probably damaging 1.00
IGL03142:Pam APN 1 97894386 missense probably damaging 1.00
IGL03409:Pam APN 1 97864329 missense probably benign 0.04
R0084:Pam UTSW 1 97896049 missense probably benign 0.01
R0200:Pam UTSW 1 97894401 unclassified probably null
R0520:Pam UTSW 1 97884195 missense probably benign 0.00
R0734:Pam UTSW 1 97864362 nonsense probably null
R1881:Pam UTSW 1 97923151 missense probably benign 0.06
R2040:Pam UTSW 1 97864442 missense possibly damaging 0.55
R2106:Pam UTSW 1 97831490 missense probably damaging 1.00
R2913:Pam UTSW 1 97923129 missense probably damaging 1.00
R3148:Pam UTSW 1 97895678 missense possibly damaging 0.84
R3618:Pam UTSW 1 97834432 missense probably damaging 1.00
R3619:Pam UTSW 1 97834432 missense probably damaging 1.00
R3847:Pam UTSW 1 97854756 intron probably benign
R3848:Pam UTSW 1 97854756 intron probably benign
R3849:Pam UTSW 1 97854756 intron probably benign
R4128:Pam UTSW 1 97834468 missense probably damaging 0.99
R4231:Pam UTSW 1 97884124 critical splice donor site probably null
R4233:Pam UTSW 1 97864394 missense possibly damaging 0.86
R4404:Pam UTSW 1 97854721 intron probably benign
R4536:Pam UTSW 1 97844699 nonsense probably null
R4738:Pam UTSW 1 97923132 missense probably damaging 1.00
R5054:Pam UTSW 1 97821917 missense probably damaging 1.00
R5501:Pam UTSW 1 97840365 nonsense probably null
R5572:Pam UTSW 1 97854744 intron probably benign
R5654:Pam UTSW 1 97864398 missense probably benign 0.00
R5659:Pam UTSW 1 97842299 missense probably damaging 1.00
R6112:Pam UTSW 1 97834468 missense probably damaging 0.99
R6513:Pam UTSW 1 97838027 missense possibly damaging 0.60
R6696:Pam UTSW 1 97885727 missense possibly damaging 0.79
R6743:Pam UTSW 1 97896049 missense probably benign 0.01
R6833:Pam UTSW 1 97837992 missense probably damaging 0.99
R6834:Pam UTSW 1 97837992 missense probably damaging 0.99
R7098:Pam UTSW 1 97898347 missense probably benign
R7117:Pam UTSW 1 97977116 start gained probably benign
R7152:Pam UTSW 1 97885740 missense probably damaging 1.00
R7172:Pam UTSW 1 97834478 missense probably benign 0.10
R7206:Pam UTSW 1 97896032 missense probably damaging 1.00
R7262:Pam UTSW 1 97854723 missense
R7434:Pam UTSW 1 97975790 nonsense probably null
R7466:Pam UTSW 1 97842247 missense probably damaging 1.00
R7513:Pam UTSW 1 97853185 missense possibly damaging 0.88
R7790:Pam UTSW 1 97821847 missense probably damaging 1.00
Posted On2015-04-16