Incidental Mutation 'R7172:Pam'
ID |
558317 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pam
|
Ensembl Gene |
ENSMUSG00000026335 |
Gene Name |
peptidylglycine alpha-amidating monooxygenase |
Synonyms |
PHM |
MMRRC Submission |
045264-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7172 (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 97762203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 793
(D793E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058762]
[ENSMUST00000097625]
[ENSMUST00000161567]
|
AlphaFold |
P97467 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058762
AA Change: D793E
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000057112 Gene: ENSMUSG00000026335 AA Change: D793E
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
AA Change: D793E
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000095228 Gene: ENSMUSG00000026335 AA Change: D793E
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: ENSMUST00000159041
|
SMART Domains |
Protein: ENSMUSP00000124284 Gene: ENSMUSG00000026335
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
44 |
N/A |
INTRINSIC |
Pfam:NHL
|
50 |
78 |
4.2e-9 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161567
AA Change: D687E
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125418 Gene: ENSMUSG00000026335 AA Change: D687E
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
AA Change: D88E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125133 Gene: ENSMUSG00000026335 AA Change: D88E
Domain | Start | End | E-Value | Type |
Pfam:NHL
|
78 |
105 |
6.2e-8 |
PFAM |
low complexity region
|
160 |
179 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (74/74) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA467197 |
A |
T |
2: 122,480,238 (GRCm39) |
Y33F |
probably damaging |
Het |
Abca4 |
C |
T |
3: 121,897,189 (GRCm39) |
Q623* |
probably null |
Het |
Abcb1a |
A |
T |
5: 8,752,399 (GRCm39) |
I457F |
probably benign |
Het |
Abcb9 |
G |
A |
5: 124,200,869 (GRCm39) |
Q716* |
probably null |
Het |
Abhd15 |
T |
C |
11: 77,406,122 (GRCm39) |
V33A |
probably benign |
Het |
Abl2 |
A |
G |
1: 156,450,157 (GRCm39) |
D108G |
probably damaging |
Het |
Adamts3 |
G |
A |
5: 90,030,860 (GRCm39) |
|
probably benign |
Het |
Atmin |
G |
T |
8: 117,683,281 (GRCm39) |
V314L |
probably damaging |
Het |
Axl |
G |
T |
7: 25,486,399 (GRCm39) |
Q102K |
probably benign |
Het |
Cdhr5 |
A |
G |
7: 140,851,841 (GRCm39) |
S488P |
possibly damaging |
Het |
Cnn1 |
C |
A |
9: 22,016,790 (GRCm39) |
A126D |
probably damaging |
Het |
Col25a1 |
A |
T |
3: 130,363,981 (GRCm39) |
K537* |
probably null |
Het |
Cxcl2 |
A |
G |
5: 91,051,879 (GRCm39) |
T26A |
probably benign |
Het |
Dcc |
T |
C |
18: 71,511,755 (GRCm39) |
T887A |
probably benign |
Het |
Dhx36 |
T |
C |
3: 62,408,436 (GRCm39) |
D134G |
probably benign |
Het |
Dnah17 |
T |
A |
11: 117,931,957 (GRCm39) |
K3672* |
probably null |
Het |
Fadd |
G |
T |
7: 144,135,908 (GRCm39) |
H73Q |
probably benign |
Het |
Fancm |
A |
G |
12: 65,152,828 (GRCm39) |
N1095D |
possibly damaging |
Het |
Fhod3 |
T |
C |
18: 25,218,603 (GRCm39) |
S789P |
probably damaging |
Het |
Glis2 |
G |
A |
16: 4,431,339 (GRCm39) |
V289I |
probably benign |
Het |
Gm17728 |
A |
C |
17: 9,641,220 (GRCm39) |
D110A |
probably damaging |
Het |
Gm9602 |
T |
A |
14: 15,933,429 (GRCm39) |
S45T |
possibly damaging |
Het |
Gpr137 |
A |
G |
19: 6,917,049 (GRCm39) |
S161P |
possibly damaging |
Het |
Gpr89 |
C |
T |
3: 96,787,385 (GRCm39) |
|
probably null |
Het |
Gps2 |
C |
T |
11: 69,807,262 (GRCm39) |
T306I |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,629,450 (GRCm39) |
Y936H |
possibly damaging |
Het |
Hoxa5 |
A |
G |
6: 52,181,276 (GRCm39) |
Y19H |
probably damaging |
Het |
Ifit2 |
G |
T |
19: 34,550,894 (GRCm39) |
A145S |
probably benign |
Het |
Impdh2 |
G |
T |
9: 108,437,809 (GRCm39) |
C26F |
probably benign |
Het |
Kcnh6 |
T |
C |
11: 105,911,100 (GRCm39) |
Y552H |
possibly damaging |
Het |
Kcnma1 |
A |
T |
14: 23,576,691 (GRCm39) |
M254K |
probably damaging |
Het |
Klhdc9 |
A |
T |
1: 171,188,228 (GRCm39) |
M1K |
probably null |
Het |
Klk1b11 |
A |
T |
7: 43,648,671 (GRCm39) |
D194V |
possibly damaging |
Het |
Lama1 |
A |
G |
17: 68,111,540 (GRCm39) |
I2264V |
|
Het |
Lmntd2 |
A |
G |
7: 140,793,554 (GRCm39) |
S111P |
unknown |
Het |
Megf8 |
T |
C |
7: 25,043,092 (GRCm39) |
L1338P |
probably damaging |
Het |
Mipol1 |
G |
A |
12: 57,372,321 (GRCm39) |
E127K |
possibly damaging |
Het |
Mmp25 |
A |
T |
17: 23,863,762 (GRCm39) |
C23S |
probably benign |
Het |
Mup8 |
A |
T |
4: 60,222,425 (GRCm39) |
C15* |
probably null |
Het |
Myh2 |
A |
T |
11: 67,079,527 (GRCm39) |
T995S |
probably benign |
Het |
Myo1d |
C |
T |
11: 80,483,621 (GRCm39) |
V863I |
probably benign |
Het |
N4bp1 |
A |
G |
8: 87,587,052 (GRCm39) |
|
probably null |
Het |
Nat10 |
G |
T |
2: 103,563,314 (GRCm39) |
P562T |
probably damaging |
Het |
Nedd9 |
C |
G |
13: 41,470,280 (GRCm39) |
R291P |
probably benign |
Het |
Nlrc3 |
G |
T |
16: 3,781,617 (GRCm39) |
H613Q |
probably benign |
Het |
Ntn1 |
A |
T |
11: 68,276,493 (GRCm39) |
C152S |
probably damaging |
Het |
Or2av9 |
T |
A |
11: 58,380,571 (GRCm39) |
I337F |
unknown |
Het |
Patz1 |
T |
G |
11: 3,258,032 (GRCm39) |
V631G |
probably benign |
Het |
Pcdh15 |
G |
A |
10: 74,338,597 (GRCm39) |
V1068M |
probably damaging |
Het |
Pramel17 |
A |
G |
4: 101,694,193 (GRCm39) |
V230A |
probably benign |
Het |
Prmt5 |
A |
G |
14: 54,752,343 (GRCm39) |
F151S |
possibly damaging |
Het |
Pygo2 |
G |
A |
3: 89,339,943 (GRCm39) |
V114I |
probably benign |
Het |
Rabgap1l |
A |
T |
1: 160,561,156 (GRCm39) |
S220R |
probably benign |
Het |
Rdh7 |
T |
G |
10: 127,724,218 (GRCm39) |
S89R |
possibly damaging |
Het |
Rgsl1 |
A |
C |
1: 153,701,966 (GRCm39) |
W163G |
possibly damaging |
Het |
Ryr3 |
T |
A |
2: 112,492,002 (GRCm39) |
N3783I |
probably damaging |
Het |
Shld2 |
G |
A |
14: 33,959,525 (GRCm39) |
T819I |
probably damaging |
Het |
Slit1 |
A |
G |
19: 41,623,105 (GRCm39) |
L644P |
probably damaging |
Het |
Steap2 |
A |
G |
5: 5,732,896 (GRCm39) |
S43P |
possibly damaging |
Het |
Susd1 |
A |
T |
4: 59,315,420 (GRCm39) |
|
probably null |
Het |
Tbc1d9 |
A |
G |
8: 83,981,390 (GRCm39) |
M686V |
probably damaging |
Het |
Tdrp |
G |
A |
8: 14,024,579 (GRCm39) |
R22* |
probably null |
Het |
Tmem245 |
A |
G |
4: 56,903,946 (GRCm39) |
V598A |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,914,994 (GRCm39) |
E1994G |
probably damaging |
Het |
Trcg1 |
T |
A |
9: 57,155,618 (GRCm39) |
V757E |
probably benign |
Het |
Trim10 |
A |
G |
17: 37,180,955 (GRCm39) |
E62G |
possibly damaging |
Het |
Ushbp1 |
G |
T |
8: 71,841,410 (GRCm39) |
A473E |
possibly damaging |
Het |
Vmn1r50 |
A |
C |
6: 90,084,386 (GRCm39) |
K44Q |
possibly damaging |
Het |
Wdr75 |
A |
G |
1: 45,838,294 (GRCm39) |
N68D |
probably damaging |
Het |
Wdr83 |
A |
G |
8: 85,806,453 (GRCm39) |
V115A |
probably damaging |
Het |
Zdhhc17 |
A |
G |
10: 110,845,809 (GRCm39) |
L28P |
possibly damaging |
Het |
Zfp738 |
C |
T |
13: 67,818,527 (GRCm39) |
C488Y |
probably damaging |
Het |
Zfp987 |
T |
G |
4: 146,058,572 (GRCm39) |
L50W |
probably damaging |
Het |
Zfyve28 |
G |
T |
5: 34,391,753 (GRCm39) |
R133S |
probably benign |
Het |
Zscan20 |
G |
T |
4: 128,479,469 (GRCm39) |
C1007* |
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 |
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 |
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'- ATGCCAGACACGTGCTGAAC -3'
(R):5'- CAATGAACAGCTGCCGTTG -3'
Sequencing Primer
(F):5'- ATATCCCTGTTTCCTATTCAAAAGC -3'
(R):5'- CCGTTGGCTGGAGTTGC -3'
|
Posted On |
2019-06-26 |