Mutagenetix > Incidental Mutation

Incidental Mutation 'R4404:Pam'

326745

Institutional Source

Beutler Lab

Gene Symbol

Pam

Ensembl Gene

ENSMUSG00000026335

Gene Name

peptidylglycine alpha-amidating monooxygenase

Synonyms

PHM

MMRRC Submission

041133-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4404 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97748816-98023578 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 97782446 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

unknown
Transcript: ENSMUST00000159841
AA Change: T158A

SMART Domains

Protein: ENSMUSP00000124479
Gene: ENSMUSG00000026335
AA Change: T158A

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: 98.6%
10x: 97.0%
20x: 94.4%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc188	A	G	16: 18,036,284 (GRCm39)	Q153R	probably damaging	Het
Cimap3	G	A	3: 105,908,684 (GRCm39)	P7L	probably benign	Het
Dop1a	T	A	9: 86,404,866 (GRCm39)	L1721*	probably null	Het
Fcsk	T	A	8: 111,616,933 (GRCm39)	T406S	probably benign	Het
Fer	A	T	17: 64,248,284 (GRCm39)		probably null	Het
Gprc6a	T	C	10: 51,504,639 (GRCm39)	I68M	probably benign	Het
Gria4	A	T	9: 4,464,489 (GRCm39)		probably null	Het
Gtf3c4	T	C	2: 28,716,761 (GRCm39)	D813G	probably damaging	Het
Hars2	G	T	18: 36,918,989 (GRCm39)	C83F	probably damaging	Het
Htr6	A	G	4: 138,789,513 (GRCm39)	S251P	probably benign	Het
Igsf10	T	C	3: 59,236,972 (GRCm39)	T1070A	probably benign	Het
Il22ra1	A	T	4: 135,464,742 (GRCm39)	E149D	possibly damaging	Het
Lama3	G	A	18: 12,715,588 (GRCm39)	M1681I	probably benign	Het
Loxhd1	G	A	18: 77,518,828 (GRCm39)	G1878D	probably damaging	Het
Mcc	G	A	18: 44,892,365 (GRCm39)	T83M	probably benign	Het
Nol11	A	T	11: 107,064,551 (GRCm39)	C468S	probably damaging	Het
Nomo1	A	G	7: 45,706,092 (GRCm39)	N482S	probably benign	Het
Npy5r	C	T	8: 67,134,644 (GRCm39)	V50I	probably benign	Het
Or8g21	T	C	9: 38,905,865 (GRCm39)	I289V	possibly damaging	Het
Pank4	C	T	4: 155,064,613 (GRCm39)	T724I	probably benign	Het
Pramel34	T	A	5: 93,785,572 (GRCm39)	H236L	possibly damaging	Het
Sertm1	C	T	3: 54,806,746 (GRCm39)	C93Y	probably damaging	Het
Slc22a2	A	G	17: 12,833,651 (GRCm39)	T444A	probably damaging	Het
Trpm7	C	A	2: 126,675,635 (GRCm39)	L489F	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Usp25	A	C	16: 76,912,341 (GRCm39)	K1020T	probably damaging	Het
Vmn2r76	T	C	7: 85,877,511 (GRCm39)	T511A	probably benign	Het
Zdhhc15	G	A	X: 103,604,294 (GRCm39)	R322*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTATGTAAAGGCCCCTGTCC -3'
(R):5'- GCTCACCCATTCTTAACTTGAAAC -3'

Sequencing Primer
(F):5'- GGCCCCTGTCCATGAAAATC -3'
(R):5'- CCATTTCTAGGTGAGCTTCTGAAGAG -3'

Posted On

2015-07-07