Incidental Mutation 'R2106:Pam'
ID 230928
Institutional Source Beutler Lab
Gene Symbol Pam
Ensembl Gene ENSMUSG00000026335
Gene Name peptidylglycine alpha-amidating monooxygenase
Synonyms PHM
MMRRC Submission 040110-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2106 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 97748816-98023578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97759215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 823 (V823A)
Ref Sequence ENSEMBL: ENSMUSP00000095228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058762] [ENSMUST00000097625] [ENSMUST00000161567]
AlphaFold P97467
Predicted Effect probably damaging
Transcript: ENSMUST00000058762
AA Change: V823A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335
AA Change: V823A

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: V823A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335
AA Change: V823A

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 probably damaging
Transcript: ENSMUST00000161567
AA Change: V717A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125418
Gene: ENSMUSG00000026335
AA Change: V717A

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: V118A
SMART Domains Protein: ENSMUSP00000125133
Gene: ENSMUSG00000026335
AA Change: V118A

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T C 2: 26,992,837 (GRCm39) F650S probably benign Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Akr1c13 T A 13: 4,248,593 (GRCm39) V266E probably damaging Het
Ankrd61 A T 5: 143,828,564 (GRCm39) L95Q probably damaging Het
Atp11a A G 8: 12,885,228 (GRCm39) T22A probably benign Het
Brca1 A G 11: 101,415,803 (GRCm39) V777A possibly damaging Het
Ccdc40 G T 11: 119,155,123 (GRCm39) R1121L probably damaging Het
Cdhr4 A C 9: 107,874,693 (GRCm39) S588R possibly damaging Het
Cfap69 T C 5: 5,645,979 (GRCm39) N517D probably benign Het
Chrm2 T C 6: 36,500,382 (GRCm39) Y80H probably damaging Het
Cimip2a A G 2: 25,110,663 (GRCm39) Y157C probably damaging Het
Csgalnact2 G T 6: 118,086,090 (GRCm39) Y534* probably null Het
Defb35 A G 8: 22,430,809 (GRCm39) E61G unknown Het
Dhx15 A T 5: 52,327,428 (GRCm39) D95E probably benign Het
Dhx57 A G 17: 80,582,792 (GRCm39) V271A probably damaging Het
Dlg1 T C 16: 31,631,574 (GRCm39) S444P probably damaging Het
Edem1 T A 6: 108,825,686 (GRCm39) N406K probably damaging Het
Eif4g3 A T 4: 137,810,230 (GRCm39) probably benign Het
Epb41 A G 4: 131,717,152 (GRCm39) I56T probably damaging Het
Epg5 T A 18: 78,034,578 (GRCm39) Y1442* probably null Het
Fat2 T C 11: 55,147,390 (GRCm39) T3951A probably benign Het
Fryl A G 5: 73,255,674 (GRCm39) S786P probably damaging Het
Fyb2 A G 4: 104,802,769 (GRCm39) T224A probably benign Het
Ginm1 A T 10: 7,651,090 (GRCm39) F105L probably damaging Het
Heatr1 T C 13: 12,426,939 (GRCm39) V688A probably benign Het
Hnmt T G 2: 23,909,130 (GRCm39) Q94H probably benign Het
Ice1 A G 13: 70,753,741 (GRCm39) Y782H probably benign Het
Immt T C 6: 71,848,499 (GRCm39) V418A possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Krt84 T C 15: 101,439,301 (GRCm39) N248D probably damaging Het
Lig1 C A 7: 13,039,863 (GRCm39) R692S probably damaging Het
Lvrn G T 18: 47,011,356 (GRCm39) A438S probably damaging Het
Mast4 C T 13: 102,887,054 (GRCm39) V1204I probably damaging Het
Med21 G T 6: 146,550,710 (GRCm39) D74Y probably damaging Het
Nat8 T C 6: 85,807,506 (GRCm39) D209G probably benign Het
Nipal1 C A 5: 72,820,902 (GRCm39) F132L probably damaging Het
Npr2 A T 4: 43,644,329 (GRCm39) I613F probably damaging Het
Nrcam A G 12: 44,617,073 (GRCm39) T706A probably benign Het
Or5w1b A G 2: 87,475,895 (GRCm39) S191P probably damaging Het
Or8w1 T C 2: 87,465,503 (GRCm39) E196G probably benign Het
Pdik1l A T 4: 134,011,565 (GRCm39) Y93N probably damaging Het
Perm1 T C 4: 156,303,336 (GRCm39) W627R probably damaging Het
Pofut1 G A 2: 153,101,713 (GRCm39) probably null Het
Prmt5 T C 14: 54,745,374 (GRCm39) I598V probably benign Het
Rab11fip5 T C 6: 85,351,369 (GRCm39) I48V probably damaging Het
Rad51d T A 11: 82,770,134 (GRCm39) K261N probably damaging Het
Rapgef6 T G 11: 54,559,512 (GRCm39) I1050S probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ryr3 T C 2: 112,468,474 (GRCm39) E4688G probably damaging Het
Siva1 G T 12: 112,613,440 (GRCm39) R96L probably damaging Het
Slc13a4 T C 6: 35,264,799 (GRCm39) N140S probably damaging Het
Slc26a5 T A 5: 22,028,542 (GRCm39) D342V probably damaging Het
Slfn9 A G 11: 82,878,506 (GRCm39) S208P possibly damaging Het
Sspo C A 6: 48,443,250 (GRCm39) T1899N possibly damaging Het
Sytl1 T C 4: 132,984,774 (GRCm39) D200G probably benign Het
Tas2r118 T C 6: 23,969,569 (GRCm39) N164S probably benign Het
Tbc1d17 A G 7: 44,497,692 (GRCm39) probably null Het
Tex14 T C 11: 87,377,076 (GRCm39) M140T possibly damaging Het
Tm6sf2 T C 8: 70,532,396 (GRCm39) F352S probably benign Het
Tmem88 A G 11: 69,288,685 (GRCm39) L78P probably benign Het
Trafd1 A G 5: 121,511,274 (GRCm39) S515P probably benign Het
Trpm6 A T 19: 18,790,714 (GRCm39) E583V possibly damaging Het
Ttc23l A G 15: 10,547,342 (GRCm39) C91R probably damaging Het
Ubap1l T C 9: 65,281,089 (GRCm39) S256P probably benign Het
Vmn1r26 T G 6: 57,985,710 (GRCm39) S160R possibly damaging Het
Vmn2r97 A G 17: 19,168,100 (GRCm39) S785G probably damaging Het
Wdr27 T G 17: 15,141,116 (GRCm39) R278S probably benign Het
Wdr7 T C 18: 63,911,109 (GRCm39) S834P probably damaging Het
Zdhhc12 C T 2: 29,981,814 (GRCm39) C116Y probably damaging Het
Zfp946 T C 17: 22,672,466 (GRCm39) F22L probably benign Het
Zfp948 G T 17: 21,807,953 (GRCm39) E382* probably null Het
Zfp956 T A 6: 47,941,359 (GRCm39) *573K probably null Het
Zim1 T G 7: 6,681,073 (GRCm39) T197P 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCAACATACAAAGAAGTGGCG -3'
(R):5'- TCACCAGCTCTGCCATTTGG -3'

Sequencing Primer
(F):5'- GCTTAAGAGCTCTGCAAAAAGC -3'
(R):5'- GCTCTGCCATTTGGACCTAATAAAC -3'
Posted On 2014-09-18