Incidental Mutation 'R2040:Pam'
ID |
225471 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pam
|
Ensembl Gene |
ENSMUSG00000026335 |
Gene Name |
peptidylglycine alpha-amidating monooxygenase |
Synonyms |
PHM |
MMRRC Submission |
040047-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2040 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
97748816-98023578 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97792167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 418
(E418G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058762]
[ENSMUST00000097625]
[ENSMUST00000161567]
|
AlphaFold |
P97467 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058762
AA Change: E418G
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000057112 Gene: ENSMUSG00000026335 AA Change: E418G
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: E418G
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000095228 Gene: ENSMUSG00000026335 AA Change: E418G
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: 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 |
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 |
|
Meta Mutation Damage Score |
0.1084 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
99% (67/68) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
T |
5: 107,693,607 (GRCm39) |
I75L |
probably benign |
Het |
Abca2 |
T |
C |
2: 25,333,817 (GRCm39) |
L1755P |
probably damaging |
Het |
Adam6b |
A |
T |
12: 113,454,364 (GRCm39) |
I394L |
probably benign |
Het |
Ano2 |
T |
A |
6: 126,016,471 (GRCm39) |
N1001K |
probably benign |
Het |
Arap2 |
A |
T |
5: 62,906,259 (GRCm39) |
N253K |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,604,227 (GRCm39) |
C1316R |
probably benign |
Het |
Atox1 |
T |
C |
11: 55,341,343 (GRCm39) |
Y64C |
probably benign |
Het |
Atp13a1 |
A |
G |
8: 70,259,702 (GRCm39) |
T1098A |
possibly damaging |
Het |
Casr |
T |
C |
16: 36,330,728 (GRCm39) |
E202G |
possibly damaging |
Het |
Cct2 |
T |
C |
10: 116,889,018 (GRCm39) |
T494A |
probably benign |
Het |
Cd209e |
T |
A |
8: 3,899,158 (GRCm39) |
N185Y |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,917,088 (GRCm39) |
L295P |
probably damaging |
Het |
Cyp26a1 |
A |
G |
19: 37,686,499 (GRCm39) |
T48A |
possibly damaging |
Het |
Elovl3 |
A |
G |
19: 46,121,567 (GRCm39) |
S37G |
probably benign |
Het |
Fbh1 |
T |
G |
2: 11,774,706 (GRCm39) |
D13A |
possibly damaging |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Frem3 |
G |
T |
8: 81,342,455 (GRCm39) |
V1583L |
possibly damaging |
Het |
Gm21863 |
C |
A |
12: 20,004,515 (GRCm39) |
Q4K |
possibly damaging |
Het |
Gm266 |
T |
C |
12: 111,452,132 (GRCm39) |
T25A |
possibly damaging |
Het |
Gm8674 |
T |
C |
13: 50,055,705 (GRCm39) |
|
noncoding transcript |
Het |
Greb1 |
T |
C |
12: 16,752,651 (GRCm39) |
H897R |
probably damaging |
Het |
Hells |
A |
G |
19: 38,943,474 (GRCm39) |
D565G |
probably damaging |
Het |
Hfm1 |
C |
T |
5: 107,049,684 (GRCm39) |
V426I |
probably damaging |
Het |
Ints6 |
G |
A |
14: 62,951,138 (GRCm39) |
T297I |
probably damaging |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
A |
T |
7: 30,268,845 (GRCm39) |
M2628K |
probably damaging |
Het |
Ktn1 |
T |
G |
14: 47,938,069 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
A |
13: 13,815,807 (GRCm39) |
D1230E |
probably benign |
Het |
Mboat1 |
T |
C |
13: 30,425,300 (GRCm39) |
|
probably null |
Het |
Moxd2 |
T |
C |
6: 40,861,887 (GRCm39) |
|
probably null |
Het |
Mtmr4 |
T |
C |
11: 87,495,916 (GRCm39) |
M527T |
probably damaging |
Het |
Myt1 |
T |
A |
2: 181,467,717 (GRCm39) |
N1050K |
probably damaging |
Het |
Ncoa6 |
A |
T |
2: 155,248,000 (GRCm39) |
V1768E |
probably damaging |
Het |
Nelfcd |
G |
A |
2: 174,261,875 (GRCm39) |
C48Y |
probably damaging |
Het |
Opn3 |
G |
A |
1: 175,491,145 (GRCm39) |
A296V |
possibly damaging |
Het |
Or13a22 |
T |
C |
7: 140,073,295 (GRCm39) |
I248T |
probably benign |
Het |
Or2z8 |
T |
A |
8: 72,811,607 (GRCm39) |
F28I |
possibly damaging |
Het |
Prrc2c |
A |
T |
1: 162,525,126 (GRCm39) |
N493K |
probably damaging |
Het |
Ptpn18 |
A |
G |
1: 34,509,300 (GRCm39) |
Q165R |
probably damaging |
Het |
Ptpro |
C |
A |
6: 137,363,162 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,833,107 (GRCm39) |
F132S |
probably damaging |
Het |
Robo1 |
T |
C |
16: 72,730,630 (GRCm39) |
C244R |
probably damaging |
Het |
Robo3 |
A |
C |
9: 37,338,760 (GRCm39) |
V316G |
probably damaging |
Het |
Rsl1 |
T |
C |
13: 67,330,145 (GRCm39) |
S198P |
probably damaging |
Het |
Rsph9 |
T |
C |
17: 46,445,910 (GRCm39) |
D220G |
probably damaging |
Het |
Rxfp2 |
A |
C |
5: 149,993,677 (GRCm39) |
I580L |
probably benign |
Het |
Septin7 |
G |
A |
9: 25,199,532 (GRCm39) |
A144T |
possibly damaging |
Het |
Sfn |
T |
C |
4: 133,328,603 (GRCm39) |
K160E |
probably benign |
Het |
Ski |
A |
G |
4: 155,306,029 (GRCm39) |
Y317H |
probably damaging |
Het |
Skic3 |
A |
C |
13: 76,328,222 (GRCm39) |
R1423S |
probably damaging |
Het |
Slc22a22 |
A |
T |
15: 57,110,936 (GRCm39) |
Y430* |
probably null |
Het |
Src |
A |
G |
2: 157,299,030 (GRCm39) |
K9R |
probably benign |
Het |
Srm |
C |
T |
4: 148,678,453 (GRCm39) |
P255L |
possibly damaging |
Het |
Stpg4 |
T |
A |
17: 87,730,075 (GRCm39) |
N90I |
probably damaging |
Het |
Sytl2 |
T |
A |
7: 90,031,069 (GRCm39) |
|
probably benign |
Het |
Tbpl2 |
T |
C |
2: 23,984,871 (GRCm39) |
K92R |
probably benign |
Het |
Tlcd4 |
G |
T |
3: 121,024,975 (GRCm39) |
|
probably benign |
Het |
Tmem38a |
T |
A |
8: 73,335,096 (GRCm39) |
N178K |
probably damaging |
Het |
Tnfaip3 |
T |
C |
10: 18,883,900 (GRCm39) |
D160G |
possibly damaging |
Het |
Vegfb |
T |
A |
19: 6,963,407 (GRCm39) |
H119L |
possibly damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,767,395 (GRCm39) |
I701F |
probably damaging |
Het |
Vmn2r95 |
C |
T |
17: 18,661,561 (GRCm39) |
L436F |
probably damaging |
Het |
Wdr47 |
T |
C |
3: 108,530,688 (GRCm39) |
C394R |
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,988,241 (GRCm39) |
Y16* |
probably null |
Het |
Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
Zfp353-ps |
A |
G |
8: 42,535,333 (GRCm39) |
|
noncoding transcript |
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 |
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'- GCTGGAAGGATAGAGCTCTG -3'
(R):5'- AGAACAACCTTGCTTCTCACTC -3'
Sequencing Primer
(F):5'- TGCTCTCAGCTGGCCTCAAG -3'
(R):5'- TTCCAAGCTGCTAGGAGA -3'
|
Posted On |
2014-08-25 |