Mutagenetix > Incidental Mutation

Incidental Mutation 'R3847:Pam'

474399

Institutional Source

Beutler Lab

Gene Symbol

Pam

Ensembl Gene

ENSMUSG00000026335

Gene Name

peptidylglycine alpha-amidating monooxygenase

Synonyms

PHM

MMRRC Submission

040895-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3847 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97795114-98095646 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 97854756 bp (GRCm38)

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

unknown
Transcript: ENSMUST00000159841
AA Change: H146L

SMART Domains

Protein: ENSMUSP00000124479
Gene: ENSMUSG00000026335
AA Change: H146L

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

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (66/66)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,736,324		probably null	Het
Abcc12	C	T	8: 86,553,391	E338K	probably benign	Het
Abcc5	A	T	16: 20,372,156	S815T	probably benign	Het
Ankrd16	G	A	2: 11,789,808	E335K	probably benign	Het
Atm	A	G	9: 53,503,075	F905S	possibly damaging	Het
Bckdha	C	T	7: 25,631,652	R281H	probably damaging	Het
Blvra	C	T	2: 127,095,191	T188I	probably damaging	Het
Bmp8b	C	A	4: 123,116,168		probably benign	Het
Cacna2d3	A	G	14: 29,347,120		probably null	Het
Cacng8	T	C	7: 3,394,474	S84P	probably damaging	Het
Cad	T	A	5: 31,061,650	V605E	probably damaging	Het
Ccny	A	G	18: 9,449,641	S11P	probably benign	Het
Col3a1	C	A	1: 45,321,990	P112T	unknown	Het
Corin	T	C	5: 72,422,165	E155G	probably benign	Het
Cul9	T	C	17: 46,525,135	Y1195C	probably damaging	Het
Cyp27a1	A	G	1: 74,737,559	E501G	probably damaging	Het
Dennd3	T	A	15: 73,542,732	N457K	possibly damaging	Het
Dnah7a	T	G	1: 53,501,656	I2520L	probably benign	Het
Dst	C	T	1: 34,212,319	S4165F	probably damaging	Het
Fgf14	A	C	14: 123,980,389	I234R	probably benign	Het
Foxp4	A	G	17: 47,875,528	I442T	unknown	Het
Gad2	T	G	2: 22,684,988	D472E	probably benign	Het
Garnl3	G	T	2: 32,992,228	H832N	probably benign	Het
Gm13941	T	C	2: 111,104,853	M11V	unknown	Het
Gnptab	T	A	10: 88,433,577	L714*	probably null	Het
Golgb1	C	A	16: 36,898,733	Q334K	probably benign	Het
Gp9	A	G	6: 87,779,151	I49M	probably benign	Het
Guf1	A	G	5: 69,561,157	N213S	probably damaging	Het
H2-K1	T	G	17: 33,997,329	H281P	probably damaging	Het
Hhip	T	A	8: 79,997,495	M373L	probably benign	Het
Ifi203	C	T	1: 173,933,796	C229Y	possibly damaging	Het
Ighv13-2	A	G	12: 114,357,798	L88S	probably damaging	Het
Kcna3	T	C	3: 107,036,696	Y92H	possibly damaging	Het
Lmo7	A	G	14: 101,922,095		probably null	Het
Lrguk	A	G	6: 34,073,768	D387G	probably damaging	Het
Mki67	A	C	7: 135,696,130	S2392A	probably benign	Het
Mknk2	C	T	10: 80,667,975	W367*	probably null	Het
Mocos	A	G	18: 24,676,662	K441E	probably damaging	Het
Mpnd	T	C	17: 56,011,692	S150P	probably damaging	Het
Naip2	A	T	13: 100,179,432	L280Q	probably damaging	Het
Naip2	G	C	13: 100,179,433	L280V	probably damaging	Het
Neurod4	C	T	10: 130,270,482	V308I	probably benign	Het
Nxf3	C	T	X: 136,073,983	V474I	probably benign	Het
Olfr1037	A	T	2: 86,085,407	Y123*	probably null	Het
Olfr976	A	T	9: 39,956,581	M118K	probably damaging	Het
Pde5a	T	C	3: 122,803,160	Y467H	probably damaging	Het
Pibf1	T	A	14: 99,137,121	V332E	possibly damaging	Het
Plxna1	C	A	6: 89,356,519	R376L	probably damaging	Het
Proz	A	G	8: 13,073,533	E268G	probably benign	Het
Rimbp3	A	T	16: 17,210,299	H529L	probably benign	Het
Rnf103	C	G	6: 71,508,875	C163W	probably damaging	Het
Rnf17	T	C	14: 56,512,296	V1433A	probably damaging	Het
Sept11	G	T	5: 93,162,167	M276I	probably damaging	Het
Slc30a4	A	G	2: 122,702,272	V50A	probably damaging	Het
Sorbs1	A	G	19: 40,314,443	V570A	probably damaging	Het
Spout1	T	C	2: 30,177,407		probably null	Het
Syne2	T	C	12: 76,048,622	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,868,675	I223N	probably damaging	Het
Tead2	T	A	7: 45,232,328		probably null	Het
Thsd1	A	G	8: 22,259,411	H713R	probably damaging	Het
Ttc21b	A	G	2: 66,242,679	L221S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,208,690	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,460,415	H612N	probably damaging	Het
Wnk1	C	T	6: 119,969,354	G613S	possibly damaging	Het
Zbtb41	T	A	1: 139,423,996	H282Q	probably benign	Het
Zfp335	C	A	2: 164,900,106		probably null	Het
Zmym2	T	A	14: 56,921,499		probably benign	Het

Other mutations in Pam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02152:Pam	APN	1	97840749	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	splice site	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
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
R8054:Pam	UTSW	1	97840389	missense	probably damaging	1.00
R8093:Pam	UTSW	1	97885632	missense	probably damaging	1.00
R8183:Pam	UTSW	1	97834474	missense	probably benign	0.08
R8404:Pam	UTSW	1	97895633	missense	probably damaging	1.00
R8734:Pam	UTSW	1	97834402	splice site	probably benign
R9092:Pam	UTSW	1	97864251	missense	probably benign	0.00
R9229:Pam	UTSW	1	97825935	missense	probably benign	0.02
R9261:Pam	UTSW	1	97975895	missense	probably benign	0.00
R9409:Pam	UTSW	1	97821860	missense	probably damaging	1.00
R9435:Pam	UTSW	1	97894419	missense	probably benign	0.00
R9476:Pam	UTSW	1	97898340	critical splice donor site	probably null
R9500:Pam	UTSW	1	97844600	missense	probably benign	0.01
R9510:Pam	UTSW	1	97898340	critical splice donor site	probably null
R9653:Pam	UTSW	1	97840744	missense	possibly damaging	0.60
Z1176:Pam	UTSW	1	97934723	missense	probably benign	0.01

Predicted Primers

Posted On

2017-04-14