Incidental Mutation 'R8054:Pam'
ID |
619228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pam
|
Ensembl Gene |
ENSMUSG00000026335 |
Gene Name |
peptidylglycine alpha-amidating monooxygenase |
Synonyms |
PHM |
MMRRC Submission |
067491-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8054 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
97748816-98023578 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 97768114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 705
(D705E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058762]
[ENSMUST00000097625]
[ENSMUST00000161567]
|
AlphaFold |
P97467 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058762
AA Change: D705E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057112 Gene: ENSMUSG00000026335 AA Change: D705E
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: D705E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095228 Gene: ENSMUSG00000026335 AA Change: D705E
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 |
|
SMART Domains |
Protein: ENSMUSP00000124284 Gene: ENSMUSG00000026335 AA Change: D68E
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
44 |
N/A |
INTRINSIC |
Pfam:NHL
|
50 |
78 |
4.2e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161567
AA Change: D599E
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125418 Gene: ENSMUSG00000026335 AA Change: D599E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (75/75) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
G |
5: 8,874,272 (GRCm39) |
N399S |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,088,707 (GRCm39) |
|
probably null |
Het |
Ankrd17 |
A |
G |
5: 90,438,914 (GRCm39) |
I483T |
probably benign |
Het |
Arl13b |
T |
C |
16: 62,626,960 (GRCm39) |
D247G |
probably benign |
Het |
Brca2 |
A |
G |
5: 150,459,969 (GRCm39) |
I415V |
probably benign |
Het |
Brpf3 |
C |
A |
17: 29,055,571 (GRCm39) |
S1173R |
probably damaging |
Het |
Cby2 |
A |
G |
14: 75,821,339 (GRCm39) |
Y129H |
probably benign |
Het |
Ccar1 |
A |
G |
10: 62,583,215 (GRCm39) |
L966P |
unknown |
Het |
Cfap61 |
A |
G |
2: 145,815,438 (GRCm39) |
N249S |
probably damaging |
Het |
Clip4 |
T |
A |
17: 72,141,268 (GRCm39) |
Y541N |
possibly damaging |
Het |
Csn2 |
C |
T |
5: 87,845,886 (GRCm39) |
|
probably null |
Het |
Cyp2c23 |
T |
G |
19: 43,995,555 (GRCm39) |
E404A |
probably damaging |
Het |
Cyp2e1 |
A |
G |
7: 140,350,871 (GRCm39) |
E281G |
possibly damaging |
Het |
Cyp2r1 |
T |
A |
7: 114,151,319 (GRCm39) |
|
probably null |
Het |
D430041D05Rik |
T |
A |
2: 103,985,390 (GRCm39) |
I1226F |
possibly damaging |
Het |
Dbx1 |
A |
T |
7: 49,282,498 (GRCm39) |
W236R |
probably damaging |
Het |
Dcp2 |
T |
G |
18: 44,538,774 (GRCm39) |
N251K |
probably benign |
Het |
Disp1 |
A |
T |
1: 182,869,812 (GRCm39) |
Y869* |
probably null |
Het |
Dnajc8 |
T |
A |
4: 132,272,068 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,621,226 (GRCm39) |
N822D |
probably benign |
Het |
Ehhadh |
A |
G |
16: 21,592,243 (GRCm39) |
|
probably null |
Het |
Eml3 |
A |
T |
19: 8,916,414 (GRCm39) |
T670S |
possibly damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,187,938 (GRCm39) |
D1530E |
possibly damaging |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Hsd3b3 |
A |
T |
3: 98,649,331 (GRCm39) |
Y331N |
probably damaging |
Het |
Ino80d |
T |
C |
1: 63,097,837 (GRCm39) |
R791G |
possibly damaging |
Het |
Itprid1 |
A |
T |
6: 55,953,424 (GRCm39) |
K913N |
probably damaging |
Het |
Jade2 |
T |
C |
11: 51,709,441 (GRCm39) |
R523G |
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,741,806 (GRCm39) |
D4451E |
unknown |
Het |
Lax1 |
T |
C |
1: 133,611,345 (GRCm39) |
T76A |
probably benign |
Het |
Map4k1 |
A |
G |
7: 28,689,181 (GRCm39) |
|
probably benign |
Het |
Mcu |
G |
A |
10: 59,290,817 (GRCm39) |
T121M |
probably damaging |
Het |
Mepce |
T |
A |
5: 137,783,004 (GRCm39) |
K441* |
probably null |
Het |
Mettl21e |
C |
A |
1: 44,245,815 (GRCm39) |
V144F |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,231,748 (GRCm39) |
S1049C |
probably damaging |
Het |
Myh14 |
C |
T |
7: 44,274,551 (GRCm39) |
V1246M |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,464,329 (GRCm39) |
Q1128L |
probably benign |
Het |
Nat8f2 |
T |
C |
6: 85,844,754 (GRCm39) |
S203G |
probably benign |
Het |
Npas2 |
A |
G |
1: 39,326,652 (GRCm39) |
T46A |
possibly damaging |
Het |
Nup133 |
T |
C |
8: 124,675,956 (GRCm39) |
|
probably benign |
Het |
Oplah |
C |
T |
15: 76,190,457 (GRCm39) |
R102H |
probably benign |
Het |
Or1x6 |
T |
A |
11: 50,939,090 (GRCm39) |
I52N |
probably benign |
Het |
Or2b6 |
A |
T |
13: 21,823,119 (GRCm39) |
D191E |
probably benign |
Het |
Or5g29 |
A |
T |
2: 85,421,184 (GRCm39) |
Q100L |
probably damaging |
Het |
Or6d13 |
A |
G |
6: 116,517,960 (GRCm39) |
H182R |
probably damaging |
Het |
Or8g20 |
C |
A |
9: 39,396,033 (GRCm39) |
C172F |
probably damaging |
Het |
Osgep |
C |
T |
14: 51,162,128 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
C |
G |
8: 110,373,008 (GRCm39) |
N1284K |
probably damaging |
Het |
Plekhg2 |
A |
G |
7: 28,064,741 (GRCm39) |
F407S |
probably damaging |
Het |
Pygl |
A |
G |
12: 70,274,113 (GRCm39) |
|
probably null |
Het |
Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
Rhobtb1 |
A |
G |
10: 69,084,720 (GRCm39) |
N37S |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,424,972 (GRCm39) |
D213V |
probably damaging |
Het |
Skint11 |
A |
T |
4: 114,101,806 (GRCm39) |
Q273L |
possibly damaging |
Het |
Skint7 |
A |
T |
4: 111,839,426 (GRCm39) |
H240L |
probably benign |
Het |
Slc12a2 |
C |
T |
18: 58,054,944 (GRCm39) |
Q862* |
probably null |
Het |
Smox |
A |
G |
2: 131,364,100 (GRCm39) |
S468G |
probably benign |
Het |
Spc25 |
A |
G |
2: 69,035,257 (GRCm39) |
S50P |
probably damaging |
Het |
Srrm1 |
A |
T |
4: 135,052,326 (GRCm39) |
S683T |
unknown |
Het |
Syne1 |
T |
C |
10: 5,220,970 (GRCm39) |
E3103G |
probably benign |
Het |
Tenm4 |
C |
A |
7: 96,378,553 (GRCm39) |
|
probably benign |
Het |
Tent4b |
T |
A |
8: 88,974,186 (GRCm39) |
I294N |
probably damaging |
Het |
Tmem123 |
T |
C |
9: 7,791,064 (GRCm39) |
S122P |
possibly damaging |
Het |
Trav18 |
A |
T |
14: 54,068,572 (GRCm39) |
K4I |
probably benign |
Het |
Triml1 |
T |
C |
8: 43,583,420 (GRCm39) |
S394G |
probably damaging |
Het |
Ubr4 |
A |
T |
4: 139,195,413 (GRCm39) |
S1212C |
unknown |
Het |
Usp34 |
G |
A |
11: 23,311,295 (GRCm39) |
R442Q |
|
Het |
Usp43 |
G |
A |
11: 67,782,284 (GRCm39) |
P378L |
probably damaging |
Het |
Vmn1r212 |
A |
G |
13: 23,067,935 (GRCm39) |
F133L |
probably benign |
Het |
Vmn1r213 |
A |
G |
13: 23,195,910 (GRCm39) |
I164M |
possibly damaging |
Het |
Vmn2r19 |
C |
T |
6: 123,292,998 (GRCm39) |
P347S |
probably damaging |
Het |
Zfp106 |
A |
T |
2: 120,355,000 (GRCm39) |
V1280E |
possibly damaging |
Het |
Zfp317 |
T |
C |
9: 19,553,265 (GRCm39) |
S13P |
probably benign |
Het |
Zfp608 |
C |
A |
18: 55,032,618 (GRCm39) |
A441S |
probably benign |
Het |
Zup1 |
T |
C |
10: 33,816,248 (GRCm39) |
D232G |
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 |
|
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 |
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'- CTGGTAACTTCTTTGGGAGTCC -3'
(R):5'- TTCTGTACGTCATGGATGTAAATGG -3'
Sequencing Primer
(F):5'- GGGAGTCCATTATTTCTGCAAAAGG -3'
(R):5'- GTCATGGATGTAAATGGTGTATTTTC -3'
|
Posted On |
2020-01-23 |