Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01585:Pam'

93332

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 #

IGL01585

Quality Score

Status

Chromosome

Chromosomal Location

97748816-98023578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97792197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 408 (V408A)

Ref Sequence

ENSEMBL: ENSMUSP00000057112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058762] [ENSMUST00000097625] [ENSMUST00000161567]

AlphaFold

P97467

Predicted Effect

probably damaging
Transcript: ENSMUST00000058762
AA Change: V408A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335
AA Change: V408A

Domain	Start	End	E-Value	Type
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: V408A

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335
AA Change: V408A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Cu2_monoox_C	1	53	4.3e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161071

Predicted Effect

probably benign
Transcript: ENSMUST00000161567

SMART Domains

Protein: ENSMUSP00000125418
Gene: ENSMUSG00000026335

Domain	Start	End	E-Value	Type
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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,359,045 (GRCm39)	D587G	probably benign	Het
Adcy1	T	A	11: 7,117,143 (GRCm39)	N1003K	probably damaging	Het
Alpk1	T	C	3: 127,473,462 (GRCm39)	D847G	probably benign	Het
Atp5f1a	T	C	18: 77,868,758 (GRCm39)	V417A	possibly damaging	Het
Avp	A	C	2: 130,422,629 (GRCm39)	S159A	probably benign	Het
Brca2	C	A	5: 150,462,981 (GRCm39)	A915D	possibly damaging	Het
Cdc42bpg	G	A	19: 6,370,462 (GRCm39)	R1185H	possibly damaging	Het
Cdcp3	T	G	7: 130,846,487 (GRCm39)	V637G	probably damaging	Het
Clrn2	A	G	5: 45,617,500 (GRCm39)	I124V	probably benign	Het
Cntn4	A	T	6: 106,595,289 (GRCm39)	K469*	probably null	Het
Cxcl1	T	A	5: 91,039,583 (GRCm39)	N70K	probably damaging	Het
Dbf4	A	G	5: 8,458,492 (GRCm39)		probably null	Het
Fbn1	A	T	2: 125,202,030 (GRCm39)	V1281E	probably damaging	Het
Fgfr3	A	T	5: 33,891,305 (GRCm39)	Q523L	probably damaging	Het
Golga5	A	G	12: 102,445,954 (GRCm39)	K403R	probably benign	Het
Gpr22	A	G	12: 31,759,336 (GRCm39)	I262T	probably benign	Het
Gstm3	G	T	3: 107,873,474 (GRCm39)	Q166K	probably benign	Het
Ilf2	T	A	3: 90,391,849 (GRCm39)	N183K	probably damaging	Het
Ip6k2	T	A	9: 108,673,512 (GRCm39)	L40Q	probably damaging	Het
Itga8	A	T	2: 12,165,123 (GRCm39)		probably benign	Het
Lbr	T	A	1: 181,653,208 (GRCm39)	R70*	probably null	Het
Lilra6	T	C	7: 3,917,498 (GRCm39)	T166A	probably benign	Het
Map3k4	T	C	17: 12,467,846 (GRCm39)	K1063E	probably damaging	Het
Msi1	T	C	5: 115,568,949 (GRCm39)		probably null	Het
Plxna1	A	G	6: 89,306,538 (GRCm39)		probably null	Het
Ppp1r36	A	T	12: 76,485,891 (GRCm39)		probably null	Het
Prrt4	A	G	6: 29,177,689 (GRCm39)	S27P	probably benign	Het
Psmg1	G	A	16: 95,789,221 (GRCm39)	T112I	possibly damaging	Het
Rfx7	T	G	9: 72,524,343 (GRCm39)	I511S	probably benign	Het
Ros1	G	A	10: 52,031,198 (GRCm39)	T481M	probably damaging	Het
Scfd1	A	G	12: 51,462,336 (GRCm39)	D397G	probably damaging	Het
Sel1l3	A	G	5: 53,311,578 (GRCm39)	Y636H	probably damaging	Het
Sgms1	T	G	19: 32,120,245 (GRCm39)	R220S	probably damaging	Het
Slc37a3	A	T	6: 39,314,196 (GRCm39)	I472N	probably damaging	Het
Syne2	A	G	12: 75,995,834 (GRCm39)		probably null	Het
Tert	T	C	13: 73,782,463 (GRCm39)	V579A	probably benign	Het
Ush2a	A	T	1: 188,162,924 (GRCm39)	H1002L	probably damaging	Het

Other mutations in Pam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2013-12-09