Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00467:Pam'

7402

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 #

IGL00467

Quality Score

Status

Chromosome

Chromosomal Location

97748816-98023578 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 97852152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125418 (fasta)

Gene Model

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

AlphaFold

P97467

Predicted Effect

probably benign
Transcript: ENSMUST00000058762

SMART Domains

Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335

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 benign
Transcript: ENSMUST00000097625

SMART Domains

Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335

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: 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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,036,496 (GRCm39)		probably benign	Het
Acvrl1	C	A	15: 101,041,221 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,984,587 (GRCm39)	M1957K	probably damaging	Het
Brinp3	A	G	1: 146,777,512 (GRCm39)	D653G	probably damaging	Het
Dcstamp	T	A	15: 39,617,812 (GRCm39)	C74S	probably benign	Het
Esrrg	A	G	1: 187,943,107 (GRCm39)	E360G	probably damaging	Het
Fam13a	C	T	6: 58,917,098 (GRCm39)		probably benign	Het
Glipr1l1	A	G	10: 111,914,286 (GRCm39)	T216A	probably benign	Het
Lama2	T	A	10: 27,343,193 (GRCm39)		probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mta3	T	A	17: 84,063,113 (GRCm39)		probably benign	Het
Nfu1	A	G	6: 86,997,755 (GRCm39)	M213V	possibly damaging	Het
Pcca	A	T	14: 122,820,041 (GRCm39)	M62L	probably benign	Het
Phf6	A	G	X: 52,020,523 (GRCm39)	Y25C	probably damaging	Het
Phlpp2	C	T	8: 110,652,422 (GRCm39)	H589Y	probably benign	Het
Ppp1r13b	A	G	12: 111,795,804 (GRCm39)	I956T	probably damaging	Het
Prkcd	G	A	14: 30,324,379 (GRCm39)		probably benign	Het
Rapgef4	A	T	2: 72,086,656 (GRCm39)	N973I	possibly damaging	Het
Rnf20	G	T	4: 49,655,480 (GRCm39)	E905*	probably null	Het
Slc26a6	T	A	9: 108,733,088 (GRCm39)	D22E	probably benign	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Taf6l	A	T	19: 8,760,752 (GRCm39)	N57K	probably benign	Het
Tas2r109	C	A	6: 132,956,986 (GRCm39)	V315L	probably benign	Het
Tasor	A	G	14: 27,170,121 (GRCm39)	N350S	probably benign	Het
Tex9	T	C	9: 72,385,117 (GRCm39)	T240A	probably benign	Het
Trank1	G	A	9: 111,193,734 (GRCm39)		probably benign	Het
Trim30c	A	T	7: 104,031,389 (GRCm39)	Y475*	probably null	Het
Trim60	T	C	8: 65,453,371 (GRCm39)	T293A	possibly damaging	Het
Ttc21b	T	C	2: 66,018,708 (GRCm39)	Y1233C	probably damaging	Het
Wdr75	A	G	1: 45,841,235 (GRCm39)	I106V	probably benign	Het
Zkscan16	T	C	4: 58,957,709 (GRCm39)	S664P	possibly damaging	Het

Other mutations in Pam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20