Incidental Mutation 'R3848:Pam'
| ID |
474206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pam
|
| Ensembl Gene |
ENSMUSG00000026335 |
| Gene Name |
peptidylglycine alpha-amidating monooxygenase |
| Synonyms |
PHM |
| MMRRC Submission |
040896-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3848 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
97748816-98023578 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 97782481 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: 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: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 86,336,783 (GRCm39) |
Q1564L |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,588,191 (GRCm39) |
V4465A |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,718,377 (GRCm39) |
|
probably benign |
Het |
| Anxa2 |
G |
T |
9: 69,374,624 (GRCm39) |
D34Y |
probably damaging |
Het |
| Asic1 |
A |
G |
15: 99,570,814 (GRCm39) |
N143S |
probably benign |
Het |
| Catsperb |
A |
C |
12: 101,475,585 (GRCm39) |
Q376H |
probably damaging |
Het |
| Cd72 |
T |
C |
4: 43,452,525 (GRCm39) |
E132G |
possibly damaging |
Het |
| Cdh16 |
T |
C |
8: 105,344,473 (GRCm39) |
D22G |
possibly damaging |
Het |
| Cep170 |
G |
A |
1: 176,583,409 (GRCm39) |
A990V |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,289,374 (GRCm39) |
V48A |
possibly damaging |
Het |
| Col3a1 |
C |
A |
1: 45,361,150 (GRCm39) |
P112T |
unknown |
Het |
| Cpeb2 |
T |
G |
5: 43,394,788 (GRCm39) |
S64A |
probably damaging |
Het |
| Cplx3 |
G |
A |
9: 57,515,600 (GRCm39) |
A425V |
possibly damaging |
Het |
| Ctsc |
A |
G |
7: 87,958,818 (GRCm39) |
H366R |
probably benign |
Het |
| Cul5 |
T |
G |
9: 53,529,286 (GRCm39) |
M800L |
probably benign |
Het |
| Dst |
C |
T |
1: 34,251,400 (GRCm39) |
S4165F |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,734,024 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,061,410 (GRCm39) |
V4331D |
probably benign |
Het |
| Fbxl8 |
T |
C |
8: 105,993,781 (GRCm39) |
S46P |
probably benign |
Het |
| Fbxo38 |
G |
A |
18: 62,648,144 (GRCm39) |
S798F |
possibly damaging |
Het |
| Fggy |
T |
C |
4: 95,489,361 (GRCm39) |
|
probably benign |
Het |
| Foxp4 |
A |
G |
17: 48,186,453 (GRCm39) |
I442T |
unknown |
Het |
| Gm13941 |
T |
C |
2: 110,935,198 (GRCm39) |
M11V |
unknown |
Het |
| Hoxd8 |
A |
G |
2: 74,535,929 (GRCm39) |
Y13C |
possibly damaging |
Het |
| Hsf4 |
T |
C |
8: 105,997,469 (GRCm39) |
F101L |
probably damaging |
Het |
| Jph2 |
G |
A |
2: 163,181,332 (GRCm39) |
P611S |
probably benign |
Het |
| Kifbp |
A |
G |
10: 62,405,249 (GRCm39) |
Y64H |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,488,893 (GRCm39) |
S183P |
probably damaging |
Het |
| L3mbtl1 |
A |
G |
2: 162,790,121 (GRCm39) |
E132G |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,159,531 (GRCm39) |
|
probably null |
Het |
| Lrpprc |
T |
C |
17: 85,078,355 (GRCm39) |
I308V |
probably benign |
Het |
| Mei1 |
T |
C |
15: 81,997,218 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,315,940 (GRCm39) |
L280Q |
probably damaging |
Het |
| Naip2 |
G |
C |
13: 100,315,941 (GRCm39) |
L280V |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,525,349 (GRCm39) |
F596I |
probably damaging |
Het |
| Or51v8 |
A |
G |
7: 103,319,908 (GRCm39) |
V110A |
probably damaging |
Het |
| Or52e8b |
A |
G |
7: 104,673,539 (GRCm39) |
V216A |
probably damaging |
Het |
| Or8u10 |
A |
T |
2: 85,915,751 (GRCm39) |
Y123* |
probably null |
Het |
| Orc2 |
T |
C |
1: 58,520,151 (GRCm39) |
T225A |
probably benign |
Het |
| P2ry1 |
G |
A |
3: 60,910,880 (GRCm39) |
W6* |
probably null |
Het |
| Pigt |
G |
A |
2: 164,340,500 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,963,785 (GRCm39) |
C71* |
probably null |
Het |
| Plcxd2 |
T |
C |
16: 45,792,629 (GRCm39) |
T237A |
probably damaging |
Het |
| Pnrc1 |
T |
C |
4: 33,246,252 (GRCm39) |
K236E |
probably damaging |
Het |
| Ppargc1b |
T |
A |
18: 61,444,113 (GRCm39) |
D350V |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,582,134 (GRCm39) |
S1349P |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,749,753 (GRCm39) |
V1433A |
probably damaging |
Het |
| Sell |
A |
T |
1: 163,893,230 (GRCm39) |
K149* |
probably null |
Het |
| Sidt1 |
A |
G |
16: 44,076,322 (GRCm39) |
|
probably benign |
Het |
| Slc6a5 |
C |
G |
7: 49,577,306 (GRCm39) |
|
probably benign |
Het |
| Slc7a14 |
A |
T |
3: 31,291,623 (GRCm39) |
N218K |
probably damaging |
Het |
| Spice1 |
C |
T |
16: 44,199,254 (GRCm39) |
R569* |
probably null |
Het |
| Stk35 |
G |
T |
2: 129,642,656 (GRCm39) |
A66S |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,926,298 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
C |
17: 34,909,369 (GRCm39) |
R1632S |
possibly damaging |
Het |
| Ttc6 |
G |
A |
12: 57,723,932 (GRCm39) |
R1020H |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r105 |
A |
G |
17: 20,428,952 (GRCm39) |
I708T |
possibly damaging |
Het |
| Vmn2r117 |
G |
T |
17: 23,679,389 (GRCm39) |
H612N |
probably damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,445,312 (GRCm39) |
D37E |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,351,734 (GRCm39) |
H282Q |
probably benign |
Het |
| Zfp687 |
T |
C |
3: 94,915,225 (GRCm39) |
D1092G |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2017-04-14 |
Incidental Mutation