Mutagenetix > Incidental Mutation

Incidental Mutation 'R0200:Pam'

23530

Institutional Source

Beutler Lab

Gene Symbol

Pam

Ensembl Gene

ENSMUSG00000026335

Gene Name

peptidylglycine alpha-amidating monooxygenase

Synonyms

PHM

MMRRC Submission

038457-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0200 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97748816-98023578 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 97822126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P97467

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058762
AA Change: V293M

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335
AA Change: V293M

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

possibly damaging
Transcript: ENSMUST00000097625
AA Change: V293M

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335
AA Change: V293M

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 null
Transcript: ENSMUST00000159841

SMART Domains

Protein: ENSMUSP00000124479
Gene: ENSMUSG00000026335

Domain	Start	End	E-Value	Type
Pfam:Cu2_monoox_C	1	53	4.3e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161567
AA Change: V293M

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125418
Gene: ENSMUSG00000026335
AA Change: V293M

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: 98.8%
3x: 97.8%
10x: 94.7%
20x: 86.2%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	C	11: 84,336,502 (GRCm39)	K466E	probably damaging	Het
Abcc3	T	C	11: 94,245,900 (GRCm39)	D1245G	probably damaging	Het
Adam12	T	C	7: 133,576,145 (GRCm39)		probably null	Het
Akap11	A	G	14: 78,748,193 (GRCm39)	V1398A	probably benign	Het
Ank1	T	G	8: 23,586,828 (GRCm39)	L461R	probably damaging	Het
Ankfn1	T	C	11: 89,332,792 (GRCm39)	S402G	possibly damaging	Het
Arhgef40	A	C	14: 52,234,431 (GRCm39)	E911D	probably damaging	Het
Atp2b1	C	T	10: 98,815,676 (GRCm39)	Q107*	probably null	Het
Cacng3	T	A	7: 122,271,008 (GRCm39)	C4*	probably null	Het
Cds1	G	A	5: 101,962,299 (GRCm39)	V305M	probably damaging	Het
Cecr2	T	G	6: 120,738,758 (GRCm39)	F1162V	probably damaging	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Chrm5	A	G	2: 112,311,065 (GRCm39)	V17A	probably benign	Het
Col20a1	T	C	2: 180,642,231 (GRCm39)	I714T	probably damaging	Het
Cpeb2	T	A	5: 43,419,119 (GRCm39)	M156K	possibly damaging	Het
Cstdc6	T	C	16: 36,143,386 (GRCm39)		probably null	Het
Defb25	C	A	2: 152,464,332 (GRCm39)	V71L	probably benign	Het
Dhx35	A	T	2: 158,671,543 (GRCm39)	M325L	probably benign	Het
Dhx57	A	T	17: 80,558,902 (GRCm39)	L1019H	probably damaging	Het
Dnah6	T	A	6: 73,046,403 (GRCm39)	D3195V	probably damaging	Het
Dph5	A	G	3: 115,722,352 (GRCm39)	S277G	probably benign	Het
Dpm1	C	A	2: 168,065,075 (GRCm39)		probably null	Het
Dsg1a	A	T	18: 20,473,995 (GRCm39)	M1023L	probably benign	Het
Egf	A	G	3: 129,499,882 (GRCm39)	Y252H	probably benign	Het
Egf	A	G	3: 129,531,198 (GRCm39)	S126P	probably damaging	Het
Enam	T	C	5: 88,640,886 (GRCm39)	W183R	possibly damaging	Het
Foxn1	T	C	11: 78,251,866 (GRCm39)	Y455C	probably damaging	Het
Iars1	A	T	13: 49,879,678 (GRCm39)	D983V	possibly damaging	Het
Ikzf4	C	A	10: 128,470,545 (GRCm39)	G325V	probably damaging	Het
Il1rl1	T	A	1: 40,480,463 (GRCm39)	W31R	possibly damaging	Het
Ip6k3	C	T	17: 27,363,999 (GRCm39)	D350N	probably damaging	Het
Irgc	T	C	7: 24,131,431 (GRCm39)	D462G	probably benign	Het
Itprid1	T	C	6: 55,874,941 (GRCm39)	L297P	probably benign	Het
Jph3	A	G	8: 122,511,572 (GRCm39)	E520G	probably benign	Het
Kcna2	T	A	3: 107,012,476 (GRCm39)	D352E	probably benign	Het
Klk4	T	A	7: 43,534,785 (GRCm39)	I248N	probably damaging	Het
Krtap16-1	T	C	11: 99,876,123 (GRCm39)	Y427C	probably damaging	Het
Lgr4	A	G	2: 109,801,035 (GRCm39)		probably null	Het
Lhpp	C	T	7: 132,212,406 (GRCm39)		probably benign	Het
Lypd3	T	A	7: 24,339,656 (GRCm39)	V241D	probably damaging	Het
Lyz2	T	A	10: 117,116,678 (GRCm39)	N57Y	possibly damaging	Het
Man1a	A	G	10: 53,950,594 (GRCm39)	V176A	probably damaging	Het
Mcm4	G	A	16: 15,447,503 (GRCm39)	T487I	probably benign	Het
Mettl21c	T	A	1: 44,052,814 (GRCm39)	I68F	probably damaging	Het
Miip	T	A	4: 147,946,720 (GRCm39)	T313S	probably damaging	Het
Minar2	A	G	18: 59,195,531 (GRCm39)		probably null	Het
Mog	A	T	17: 37,323,311 (GRCm39)	I209K	probably damaging	Het
Myo1c	C	A	11: 75,563,008 (GRCm39)	D997E	probably benign	Het
Npc1	T	C	18: 12,352,261 (GRCm39)	Y146C	probably damaging	Het
Nploc4	A	G	11: 120,304,507 (GRCm39)	L238P	probably damaging	Het
Opa1	A	G	16: 29,432,947 (GRCm39)	N544S	probably benign	Het
Or2j6	T	C	7: 139,980,788 (GRCm39)	Y57C	probably damaging	Het
Or2v1	T	A	11: 49,025,874 (GRCm39)	M285K	probably damaging	Het
Or6k6	T	C	1: 173,945,078 (GRCm39)	H168R	probably benign	Het
Pdgfra	T	C	5: 75,324,438 (GRCm39)	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,936,459 (GRCm39)	R590H	probably damaging	Het
Plxdc1	T	C	11: 97,824,838 (GRCm39)	Y339C	probably damaging	Het
Plxna1	T	C	6: 89,300,575 (GRCm39)	N1583S	probably damaging	Het
Plxna4	C	T	6: 32,174,023 (GRCm39)	V1191M	probably damaging	Het
Polk	T	A	13: 96,633,330 (GRCm39)	N238Y	probably benign	Het
Ptprq	T	C	10: 107,521,018 (GRCm39)	N718S	probably benign	Het
Rsrc1	A	T	3: 67,088,194 (GRCm39)	H176L	probably damaging	Het
Sbno1	T	C	5: 124,522,604 (GRCm39)	D1072G	probably damaging	Het
Scmh1	A	G	4: 120,341,028 (GRCm39)	K238R	probably damaging	Het
Senp7	A	G	16: 55,944,236 (GRCm39)	T187A	possibly damaging	Het
Slc12a4	T	C	8: 106,678,249 (GRCm39)	R315G	probably benign	Het
Slc16a10	A	G	10: 39,916,612 (GRCm39)	V430A	probably benign	Het
Slc26a7	T	C	4: 14,621,317 (GRCm39)	D23G	probably benign	Het
Slc28a2b	T	A	2: 122,357,928 (GRCm39)	*661R	probably null	Het
Slc7a7	A	G	14: 54,615,259 (GRCm39)	L246P	probably damaging	Het
Spata7	T	A	12: 98,629,428 (GRCm39)	S332T	probably benign	Het
Spsb1	A	G	4: 149,982,673 (GRCm39)	*274R	probably null	Het
Sspo	T	G	6: 48,463,349 (GRCm39)	V3767G	probably null	Het
Syt10	C	A	15: 89,711,144 (GRCm39)	A130S	probably benign	Het
Tgm6	T	A	2: 129,994,865 (GRCm39)		probably null	Het
Them7	A	C	2: 105,128,262 (GRCm39)	N81T	probably damaging	Het
Tinag	C	A	9: 76,859,217 (GRCm39)	A464S	probably damaging	Het
Tmem217	T	G	17: 29,745,284 (GRCm39)	I149L	probably benign	Het
Trp53rkb	T	G	2: 166,637,603 (GRCm39)	D186E	probably damaging	Het
Vmn1r20	T	C	6: 57,409,084 (GRCm39)	Y137H	probably damaging	Het
Vmn1r60	T	A	7: 5,547,379 (GRCm39)	L240F	probably benign	Het
Vmn1r64	A	G	7: 5,886,817 (GRCm39)	M242T	probably benign	Het
Xkr4	T	C	1: 3,740,886 (GRCm39)	N229S	probably benign	Het
Zcchc2	T	A	1: 105,931,853 (GRCm39)	L352M	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp638	T	C	6: 83,944,336 (GRCm39)	L1018P	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TCACTCGGTACACAAGCAACTGAGA -3'
(R):5'- ATGCTCTGAACCTCACATGACTCCA -3'

Sequencing Primer
(F):5'- ATGTTCCCAAGTGAGGCCAC -3'
(R):5'- CCTCACATGACTCCAACATGG -3'

Posted On

2013-04-16