Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02152:Pam'

282079

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pam

Ensembl Gene

ENSMUSG00000026335

Gene Name

peptidylglycine alpha-amidating monooxygenase

Synonyms

PHM

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02152

Quality Score

Status

Chromosome

Chromosomal Location

97795114-98095646 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97840749 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 552 (R552Q)

Ref Sequence

ENSEMBL: ENSMUSP00000125418 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000058762
AA Change: R658Q

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

SMART Domains

Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335
AA Change: R658Q

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: R658Q

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

SMART Domains

Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335
AA Change: R658Q

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: R21Q

SMART Domains

Protein: ENSMUSP00000124284
Gene: ENSMUSG00000026335
AA Change: R21Q

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

probably damaging
Transcript: ENSMUST00000161567
AA Change: R552Q

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

SMART Domains

Protein: ENSMUSP00000125418
Gene: ENSMUSG00000026335
AA Change: R552Q

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

probably benign
Transcript: ENSMUST00000162681

SMART Domains

Protein: ENSMUSP00000125133
Gene: ENSMUSG00000026335

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,225	I143V	probably benign	Het
1700028K03Rik	A	G	5: 107,548,117	T140A	probably benign	Het
4933430I17Rik	T	C	4: 62,542,754	Y289H	possibly damaging	Het
Adamts17	T	A	7: 67,125,000	S956T	probably benign	Het
Adamts6	A	T	13: 104,313,660	S290C	probably null	Het
Apaf1	A	T	10: 91,061,819	H267Q	probably benign	Het
Aplp2	G	A	9: 31,211,651	P26L	unknown	Het
Arid1b	C	T	17: 5,313,968	S1019F	probably damaging	Het
Armc3	G	A	2: 19,286,137		probably null	Het
Ass1	T	C	2: 31,492,324	I169T	probably damaging	Het
Ccser1	A	G	6: 61,311,708	D285G	possibly damaging	Het
Cenpf	A	G	1: 189,649,012	V2737A	probably benign	Het
Chrm5	A	G	2: 112,480,568	Y68H	probably damaging	Het
Cops4	A	G	5: 100,533,590	T164A	probably benign	Het
Cox4i1	A	G	8: 120,672,865	S72G	probably benign	Het
Cpox	A	G	16: 58,674,424	T275A	possibly damaging	Het
Cyb5a	T	C	18: 84,873,156	I68T	probably benign	Het
Efna5	T	C	17: 62,651,060	D67G	probably benign	Het
Enpp3	T	C	10: 24,774,002	E842G	probably damaging	Het
Fam208b	C	T	13: 3,585,371	E479K	probably benign	Het
Fam210b	A	G	2: 172,351,503	K79E	probably benign	Het
Gm17359	T	C	3: 79,345,532	I18T	possibly damaging	Het
Gm4799	T	C	10: 82,954,755		noncoding transcript	Het
Gpr146	A	T	5: 139,392,712	R90W	probably damaging	Het
Hal	A	G	10: 93,503,542	I498V	possibly damaging	Het
Hist1h2af	A	G	13: 23,534,281	H124R	probably benign	Het
Hnrnpm	C	T	17: 33,658,412	G365R	probably damaging	Het
Jakmip3	A	G	7: 139,025,488	D407G	probably damaging	Het
Kank1	A	G	19: 25,428,172	I1185V	possibly damaging	Het
Kcnj16	A	T	11: 111,025,210	M233L	probably benign	Het
Klhl5	A	T	5: 65,148,800	Q370L	probably damaging	Het
L3hypdh	C	T	12: 72,077,143		probably null	Het
Las1l	A	G	X: 95,953,302	V130A	probably damaging	Het
Lrp2bp	A	T	8: 46,023,044	Y274F	probably damaging	Het
Morc2b	T	A	17: 33,137,943	K285M	probably damaging	Het
Mpp3	A	T	11: 102,025,390	Y45*	probably null	Het
Muc4	T	A	16: 32,777,649		probably benign	Het
Muc5ac	T	C	7: 141,800,177	C837R	possibly damaging	Het
Mum1	A	G	10: 80,239,978	D466G	probably damaging	Het
Nr2f6	T	A	8: 71,376,166	I155F	probably damaging	Het
Nsg1	A	G	5: 38,144,801	F50L	probably benign	Het
Olfr304	T	A	7: 86,386,043	M206L	probably benign	Het
Ostf1	C	A	19: 18,590,458	G101C	probably damaging	Het
Pkd1l3	A	G	8: 109,669,292	N2108S	probably damaging	Het
Prkdc	A	T	16: 15,669,285	H484L	probably benign	Het
Rfx5	G	A	3: 94,957,182	R213Q	probably damaging	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Sall2	A	G	14: 52,315,514	S73P	probably damaging	Het
Sec22c	G	A	9: 121,684,779	A264V	probably benign	Het
Sis	A	C	3: 72,888,986		probably benign	Het
Spam1	T	A	6: 24,800,803		probably benign	Het
St13	T	A	15: 81,366,382	I318F	probably damaging	Het
Syne1	T	C	10: 5,424,382	I142V	probably damaging	Het
Trpm6	A	T	19: 18,832,539	T1100S	possibly damaging	Het
Ttll6	G	A	11: 96,135,540	W90*	probably null	Het
Txndc12	T	A	4: 108,834,792	C9*	probably null	Het
Ubr7	C	T	12: 102,768,276	Q270*	probably null	Het
Vps33b	A	G	7: 80,285,069	S302G	probably benign	Het
Xylt1	T	A	7: 117,634,770	V508E	probably damaging	Het
Zbtb26	A	T	2: 37,436,691	L111Q	possibly damaging	Het
Zfp410	T	C	12: 84,332,928		probably benign	Het
Zscan18	A	T	7: 12,775,296		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
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	unclassified	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
R3847:Pam	UTSW	1	97854756	intron	probably benign
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

Posted On

2015-04-16