Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02882:Pam'

362852

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 #

IGL02882

Quality Score

Status

Chromosome

Chromosomal Location

97748816-98023578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 97768092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 713 (C713G)

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: C713G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335
AA Change: C713G

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

probably damaging
Transcript: ENSMUST00000097625
AA Change: C713G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335
AA Change: C713G

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

unknown
Transcript: ENSMUST00000159041
AA Change: C76G

SMART Domains

Protein: ENSMUSP00000124284
Gene: ENSMUSG00000026335
AA Change: C76G

Domain	Start	End	E-Value	Type
low complexity region	37	44	N/A	INTRINSIC
Pfam:NHL	50	78	4.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159131

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161567
AA Change: C607G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125418
Gene: ENSMUSG00000026335
AA Change: C607G

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

Predicted Effect

unknown
Transcript: ENSMUST00000162681
AA Change: C8G

SMART Domains

Protein: ENSMUSP00000125133
Gene: ENSMUSG00000026335
AA Change: C8G

Domain	Start	End	E-Value	Type
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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	T	9: 44,188,786 (GRCm39)	L469*	probably null	Het
Calr3	T	A	8: 73,188,665 (GRCm39)	Y46F	probably damaging	Het
Clcn4	A	G	7: 7,293,464 (GRCm39)	C491R	probably damaging	Het
Col6a5	G	T	9: 105,811,520 (GRCm39)	D666E	unknown	Het
D130052B06Rik	G	A	11: 33,573,780 (GRCm39)	V126M	probably damaging	Het
Ddx27	A	G	2: 166,869,833 (GRCm39)	I389M	possibly damaging	Het
Dgka	T	C	10: 128,569,253 (GRCm39)	I160V	possibly damaging	Het
Enpp6	T	C	8: 47,483,567 (GRCm39)	S120P	probably damaging	Het
Ezh1	A	G	11: 101,094,115 (GRCm39)	I459T	probably benign	Het
Fam91a1	A	G	15: 58,324,910 (GRCm39)		probably benign	Het
Foxn2	T	C	17: 88,770,375 (GRCm39)	L74P	probably damaging	Het
Fscn2	T	C	11: 120,253,325 (GRCm39)	V264A	probably benign	Het
Gmeb2	G	A	2: 180,907,676 (GRCm39)	T54I	probably damaging	Het
Hmcn2	A	T	2: 31,303,379 (GRCm39)	K3007*	probably null	Het
Ice1	A	T	13: 70,772,593 (GRCm39)		probably benign	Het
Lgi1	A	G	19: 38,272,453 (GRCm39)	D84G	probably benign	Het
Mier2	T	C	10: 79,383,555 (GRCm39)	I196V	probably damaging	Het
Nipal2	T	C	15: 34,600,223 (GRCm39)	Y198C	probably damaging	Het
Npas2	A	C	1: 39,352,077 (GRCm39)	S176R	probably benign	Het
Or8b50	A	T	9: 38,518,234 (GRCm39)	I158F	probably benign	Het
Pcdh17	C	A	14: 84,684,101 (GRCm39)	D189E	probably damaging	Het
Pcdhb8	T	A	18: 37,489,276 (GRCm39)	I318N	possibly damaging	Het
Pcyt2	A	G	11: 120,502,233 (GRCm39)	S300P	possibly damaging	Het
Pkdrej	A	G	15: 85,701,497 (GRCm39)	S1480P	probably damaging	Het
Plekhd1	G	A	12: 80,765,781 (GRCm39)		probably null	Het
Plxna2	A	T	1: 194,444,878 (GRCm39)	S757C	probably damaging	Het
Prkdc	A	T	16: 15,469,383 (GRCm39)	K163*	probably null	Het
Serpina3f	A	T	12: 104,183,263 (GRCm39)	T42S	probably damaging	Het
Sesn2	T	C	4: 132,221,104 (GRCm39)	N456D	probably benign	Het
Tas2r105	A	T	6: 131,664,143 (GRCm39)	L95Q	possibly damaging	Het
Tln1	A	G	4: 43,539,522 (GRCm39)	V1600A	probably benign	Het
Zfp764l1	A	G	7: 126,991,424 (GRCm39)	Y188H	probably damaging	Het
Zfp808	A	G	13: 62,320,994 (GRCm39)	K741R	probably benign	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
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
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

2015-12-18