Incidental Mutation 'R0084:Pam'
| ID |
19787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pam
|
| Ensembl Gene |
ENSMUSG00000026335 |
| Gene Name |
peptidylglycine alpha-amidating monooxygenase |
| Synonyms |
PHM |
| MMRRC Submission |
038371-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0084 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
97748816-98023578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97823774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 219
(V219A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058762]
[ENSMUST00000097625]
[ENSMUST00000161567]
|
| AlphaFold |
P97467 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058762
AA Change: V219A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335
AA Change: V219A
| 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: V219A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335
AA Change: V219A
| 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 |
probably benign
Transcript: ENSMUST00000161567
AA Change: V219A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000125418
Gene: ENSMUSG00000026335
AA Change: V219A
| 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 |
0.0986 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.0%
- 10x: 94.5%
- 20x: 86.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,927,423 (GRCm39) |
|
probably benign |
Het |
| Abcc9 |
A |
G |
6: 142,604,277 (GRCm39) |
Y653H |
probably damaging |
Het |
| Acp3 |
A |
T |
9: 104,191,564 (GRCm39) |
S241T |
probably benign |
Het |
| Acvr1 |
A |
G |
2: 58,348,895 (GRCm39) |
|
probably null |
Het |
| Adgb |
T |
C |
10: 10,272,088 (GRCm39) |
N832S |
possibly damaging |
Het |
| AI182371 |
A |
G |
2: 34,975,714 (GRCm39) |
|
probably null |
Het |
| Anapc1 |
G |
A |
2: 128,465,886 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
T |
C |
19: 23,889,861 (GRCm39) |
S420P |
possibly damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Bpifb2 |
A |
T |
2: 153,733,011 (GRCm39) |
M365L |
probably benign |
Het |
| Btnl9 |
A |
T |
11: 49,069,606 (GRCm39) |
N224K |
possibly damaging |
Het |
| Cntn1 |
A |
T |
15: 92,215,798 (GRCm39) |
I944L |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,296,265 (GRCm39) |
|
probably benign |
Het |
| Dcaf11 |
C |
T |
14: 55,806,700 (GRCm39) |
R468C |
probably benign |
Het |
| E4f1 |
T |
C |
17: 24,663,056 (GRCm39) |
T750A |
possibly damaging |
Het |
| Ercc5 |
A |
G |
1: 44,215,136 (GRCm39) |
K890E |
possibly damaging |
Het |
| Fbrsl1 |
A |
G |
5: 110,527,381 (GRCm39) |
L262P |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,935,979 (GRCm38) |
D2273G |
probably benign |
Het |
| Gm9848 |
A |
T |
13: 113,244,776 (GRCm39) |
|
noncoding transcript |
Het |
| Hcrtr1 |
T |
A |
4: 130,031,059 (GRCm39) |
H75L |
possibly damaging |
Het |
| Heatr9 |
A |
T |
11: 83,403,721 (GRCm39) |
|
probably benign |
Het |
| Htatip2 |
G |
A |
7: 49,409,420 (GRCm39) |
G58D |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,445,918 (GRCm39) |
Y210* |
probably null |
Het |
| Lmntd1 |
G |
A |
6: 145,350,254 (GRCm39) |
H234Y |
unknown |
Het |
| Ly6g2 |
T |
A |
15: 75,089,624 (GRCm39) |
M44K |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,963,343 (GRCm39) |
K85E |
possibly damaging |
Het |
| Moxd2 |
T |
C |
6: 40,856,342 (GRCm39) |
D510G |
probably null |
Het |
| Mpv17l2 |
A |
T |
8: 71,217,190 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,472,778 (GRCm39) |
|
probably null |
Het |
| Ncapd3 |
A |
G |
9: 26,967,407 (GRCm39) |
D581G |
probably damaging |
Het |
| Ndufb5 |
T |
C |
3: 32,791,352 (GRCm39) |
V33A |
probably benign |
Het |
| Or10a49 |
A |
T |
7: 108,468,007 (GRCm39) |
M118K |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,890,669 (GRCm39) |
T524A |
probably benign |
Het |
| Otogl |
A |
C |
10: 107,737,202 (GRCm39) |
S71A |
probably damaging |
Het |
| Ovol2 |
G |
T |
2: 144,147,808 (GRCm39) |
N180K |
probably damaging |
Het |
| Paox |
C |
T |
7: 139,712,359 (GRCm39) |
R197* |
probably null |
Het |
| Pax2 |
T |
A |
19: 44,806,874 (GRCm39) |
Y290N |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,516,937 (GRCm39) |
M933T |
possibly damaging |
Het |
| Ppfia4 |
G |
T |
1: 134,227,164 (GRCm39) |
R1124S |
possibly damaging |
Het |
| Prkch |
T |
C |
12: 73,744,761 (GRCm39) |
F258S |
possibly damaging |
Het |
| Rhob |
G |
A |
12: 8,549,107 (GRCm39) |
R176C |
probably benign |
Het |
| Sbf2 |
A |
T |
7: 110,041,573 (GRCm39) |
I326N |
possibly damaging |
Het |
| Scgb2b2 |
A |
T |
7: 31,003,041 (GRCm39) |
E45D |
probably benign |
Het |
| Scube3 |
T |
A |
17: 28,381,935 (GRCm39) |
D320E |
probably benign |
Het |
| Serpina1f |
A |
G |
12: 103,659,847 (GRCm39) |
V145A |
possibly damaging |
Het |
| Slc28a2b |
A |
G |
2: 122,353,314 (GRCm39) |
Y498C |
possibly damaging |
Het |
| Slc6a5 |
A |
C |
7: 49,579,761 (GRCm39) |
I380L |
probably benign |
Het |
| Spag16 |
A |
G |
1: 70,035,998 (GRCm39) |
N342S |
probably benign |
Het |
| Spata16 |
A |
G |
3: 26,721,559 (GRCm39) |
T27A |
possibly damaging |
Het |
| Spock3 |
A |
C |
8: 63,596,963 (GRCm39) |
K89T |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,481,797 (GRCm39) |
V795A |
probably damaging |
Het |
| Tirap |
G |
T |
9: 35,100,458 (GRCm39) |
H75Q |
probably benign |
Het |
| Tpk1 |
C |
A |
6: 43,323,763 (GRCm39) |
V229L |
possibly damaging |
Het |
| Tshz2 |
A |
G |
2: 169,726,286 (GRCm39) |
H294R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,703,043 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
C |
T |
11: 115,954,657 (GRCm39) |
V984M |
probably damaging |
Het |
| Zbtb43 |
A |
T |
2: 33,343,996 (GRCm39) |
Y373N |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,480,476 (GRCm39) |
H884Q |
possibly 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 |
|
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 |
|
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'- GCCACCATATCGAGAGAACCGATGAAG -3'
(R):5'- TGAAGGAGTGTCCCATTCACAGGAG -3'
Sequencing Primer
(F):5'- TGATTTGGAAACCCAGAGCC -3'
(R):5'- TTCACAGGAGAGCCAAGTGC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation