Incidental Mutation 'R9476:Pam'
ID |
715746 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pam
|
Ensembl Gene |
ENSMUSG00000026335 |
Gene Name |
peptidylglycine alpha-amidating monooxygenase |
Synonyms |
PHM |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9476 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
97748816-98023578 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 97826065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058762]
[ENSMUST00000097625]
[ENSMUST00000161567]
|
AlphaFold |
P97467 |
Predicted Effect |
probably null
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 null
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 |
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 null
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578G10Rik |
T |
G |
4: 42,760,998 (GRCm39) |
W6G |
unknown |
Het |
Aatk |
A |
T |
11: 119,901,094 (GRCm39) |
C1101S |
probably benign |
Het |
Abcb4 |
A |
T |
5: 8,977,790 (GRCm39) |
D456V |
probably damaging |
Het |
Abcc8 |
T |
C |
7: 45,819,270 (GRCm39) |
E186G |
possibly damaging |
Het |
Adam18 |
T |
C |
8: 25,115,807 (GRCm39) |
N629S |
probably benign |
Het |
Angpt2 |
T |
G |
8: 18,764,143 (GRCm39) |
N133T |
probably benign |
Het |
Ankrd13c |
T |
A |
3: 157,697,396 (GRCm39) |
S334T |
probably benign |
Het |
Ankrd13d |
A |
T |
19: 4,320,289 (GRCm39) |
S151T |
unknown |
Het |
Ap3d1 |
G |
A |
10: 80,545,655 (GRCm39) |
P1025S |
probably benign |
Het |
Bhlhe41 |
G |
A |
6: 145,808,948 (GRCm39) |
A288V |
possibly damaging |
Het |
Cacna1b |
T |
C |
2: 24,540,058 (GRCm39) |
E1467G |
probably damaging |
Het |
Cacna1h |
T |
A |
17: 25,611,524 (GRCm39) |
T425S |
probably damaging |
Het |
Cdk13 |
A |
C |
13: 17,902,747 (GRCm39) |
C934W |
probably damaging |
Het |
Ces1b |
T |
A |
8: 93,799,890 (GRCm39) |
N162I |
probably damaging |
Het |
Clec9a |
T |
A |
6: 129,398,023 (GRCm39) |
I187K |
possibly damaging |
Het |
Cpsf3 |
A |
G |
12: 21,350,080 (GRCm39) |
I266M |
probably damaging |
Het |
Cr2 |
G |
T |
1: 194,840,416 (GRCm39) |
L509M |
probably damaging |
Het |
Creb3l2 |
C |
A |
6: 37,311,446 (GRCm39) |
G448W |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 15,981,215 (GRCm39) |
|
probably null |
Het |
Cul9 |
G |
A |
17: 46,821,833 (GRCm39) |
R1881W |
probably damaging |
Het |
Cyth1 |
C |
T |
11: 118,076,206 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
T |
7: 105,352,889 (GRCm39) |
N2681Y |
possibly damaging |
Het |
Dnm1 |
T |
C |
2: 32,213,739 (GRCm39) |
M476V |
probably benign |
Het |
Dnmt3a |
A |
G |
12: 3,957,707 (GRCm39) |
H896R |
probably damaging |
Het |
Dock1 |
T |
G |
7: 134,592,279 (GRCm39) |
I938S |
probably benign |
Het |
Dock6 |
G |
A |
9: 21,724,821 (GRCm39) |
L1515F |
probably damaging |
Het |
Dusp16 |
T |
C |
6: 134,695,226 (GRCm39) |
H535R |
probably benign |
Het |
Fancd2os |
T |
A |
6: 113,574,994 (GRCm39) |
Y4F |
probably damaging |
Het |
Fat4 |
A |
T |
3: 39,037,886 (GRCm39) |
Q3846L |
probably benign |
Het |
Fbxw10 |
A |
C |
11: 62,743,814 (GRCm39) |
H240P |
probably benign |
Het |
Frmd4a |
A |
G |
2: 4,608,324 (GRCm39) |
T731A |
probably benign |
Het |
Gm44501 |
T |
A |
17: 40,889,820 (GRCm39) |
H111Q |
possibly damaging |
Het |
Gsdmc |
T |
C |
15: 63,650,551 (GRCm39) |
M277V |
probably benign |
Het |
Hira |
A |
G |
16: 18,772,789 (GRCm39) |
D867G |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,462,127 (GRCm39) |
S5184P |
probably benign |
Het |
Ighv1-26 |
A |
C |
12: 114,752,407 (GRCm39) |
F7V |
probably benign |
Het |
Igkv4-81 |
C |
T |
6: 68,967,796 (GRCm39) |
E102K |
possibly damaging |
Het |
Inmt |
G |
T |
6: 55,147,990 (GRCm39) |
S213Y |
possibly damaging |
Het |
Ints2 |
T |
A |
11: 86,135,335 (GRCm39) |
M360L |
probably benign |
Het |
Itih3 |
A |
G |
14: 30,631,416 (GRCm39) |
S827P |
probably benign |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Kcnk12 |
C |
A |
17: 88,054,122 (GRCm39) |
R180L |
probably benign |
Het |
Kndc1 |
G |
A |
7: 139,510,031 (GRCm39) |
S1291N |
probably benign |
Het |
Mettl21a |
T |
C |
1: 64,647,285 (GRCm39) |
T91A |
probably damaging |
Het |
Mmrn2 |
A |
G |
14: 34,120,407 (GRCm39) |
I426V |
possibly damaging |
Het |
Mrpl21 |
T |
G |
19: 3,337,704 (GRCm39) |
V137G |
probably damaging |
Het |
Nrbp2 |
T |
C |
15: 75,961,626 (GRCm39) |
N218S |
probably damaging |
Het |
Nrip1 |
T |
C |
16: 76,089,820 (GRCm39) |
N579S |
probably benign |
Het |
Nsf |
T |
C |
11: 103,763,988 (GRCm39) |
N365S |
probably damaging |
Het |
Or6c5 |
A |
G |
10: 129,074,656 (GRCm39) |
I213V |
probably damaging |
Het |
Or7g28 |
A |
T |
9: 19,272,383 (GRCm39) |
D89E |
probably benign |
Het |
Osbpl3 |
C |
T |
6: 50,313,194 (GRCm39) |
|
probably null |
Het |
Oscar |
T |
A |
7: 3,614,843 (GRCm39) |
H43L |
probably benign |
Het |
Parn |
A |
T |
16: 13,358,942 (GRCm39) |
M600K |
probably benign |
Het |
Pcdha11 |
C |
A |
18: 37,139,532 (GRCm39) |
T387N |
probably benign |
Het |
Plce1 |
G |
A |
19: 38,766,337 (GRCm39) |
E2121K |
possibly damaging |
Het |
Prune2 |
T |
A |
19: 17,096,706 (GRCm39) |
Y737N |
possibly damaging |
Het |
Ptch1 |
G |
A |
13: 63,681,448 (GRCm39) |
P613L |
probably benign |
Het |
Ptprt |
A |
C |
2: 161,397,381 (GRCm39) |
C1129G |
probably damaging |
Het |
Rara |
C |
T |
11: 98,860,983 (GRCm39) |
S157L |
probably benign |
Het |
Rest |
T |
A |
5: 77,416,098 (GRCm39) |
M104K |
probably damaging |
Het |
Rfc1 |
A |
G |
5: 65,437,142 (GRCm39) |
S513P |
probably damaging |
Het |
Rnf40 |
T |
A |
7: 127,201,808 (GRCm39) |
I1000N |
probably damaging |
Het |
Scube2 |
C |
T |
7: 109,430,969 (GRCm39) |
G410E |
probably damaging |
Het |
Sh3gl2 |
A |
G |
4: 85,304,089 (GRCm39) |
E264G |
probably benign |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Smc4 |
T |
G |
3: 68,914,662 (GRCm39) |
S92A |
probably damaging |
Het |
Spata31d1b |
A |
G |
13: 59,863,467 (GRCm39) |
D205G |
probably benign |
Het |
Spata31e4 |
A |
G |
13: 50,856,149 (GRCm39) |
T596A |
possibly damaging |
Het |
Spef2 |
T |
C |
15: 9,713,203 (GRCm39) |
R390G |
probably damaging |
Het |
Speg |
T |
C |
1: 75,377,768 (GRCm39) |
F842S |
probably damaging |
Het |
Stk17b |
G |
T |
1: 53,796,898 (GRCm39) |
H290N |
probably damaging |
Het |
Stpg3 |
A |
T |
2: 25,103,516 (GRCm39) |
V191D |
probably benign |
Het |
Supt6 |
C |
T |
11: 78,120,290 (GRCm39) |
R350H |
probably damaging |
Het |
Tet3 |
T |
C |
6: 83,380,935 (GRCm39) |
E411G |
possibly damaging |
Het |
Tet3 |
T |
A |
6: 83,381,808 (GRCm39) |
|
probably null |
Het |
Tns3 |
A |
G |
11: 8,395,702 (GRCm39) |
I1234T |
probably damaging |
Het |
Trim34b |
A |
G |
7: 103,980,503 (GRCm39) |
E197G |
probably damaging |
Het |
Vcan |
G |
T |
13: 89,851,531 (GRCm39) |
T1143K |
possibly damaging |
Het |
Vmn2r61 |
T |
A |
7: 41,949,593 (GRCm39) |
V671E |
probably damaging |
Het |
Wdtc1 |
A |
G |
4: 133,049,529 (GRCm39) |
V29A |
probably damaging |
Het |
Zfp462 |
G |
A |
4: 55,080,735 (GRCm39) |
M2450I |
probably benign |
Het |
Zfp869 |
A |
T |
8: 70,159,849 (GRCm39) |
C241* |
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 |
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 |
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'- ACAACGACTCTAGCTTTTCACTG -3'
(R):5'- CAAGTGTCGCACAAGCTGATG -3'
Sequencing Primer
(F):5'- CTGAAGCCTTTCATAAGACAGCTG -3'
(R):5'- GTCGCACAAGCTGATGTTTTAACC -3'
|
Posted On |
2022-06-15 |