Incidental Mutation 'R7262:Pam'
| ID |
564671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pam
|
| Ensembl Gene |
ENSMUSG00000026335 |
| Gene Name |
peptidylglycine alpha-amidating monooxygenase |
| Synonyms |
PHM |
| MMRRC Submission |
045353-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7262 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
97748816-98023578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97782448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 157
(K157R)
|
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124479
Gene: ENSMUSG00000026335
AA Change: K157R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cu2_monoox_C
|
1 |
53 |
4.3e-15 |
PFAM |
|
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (53/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,946,137 (GRCm39) |
|
probably null |
Het |
| Adh5 |
C |
A |
3: 138,151,133 (GRCm39) |
A32D |
possibly damaging |
Het |
| Ap1m2 |
A |
G |
9: 21,213,762 (GRCm39) |
I295T |
possibly damaging |
Het |
| B230104I21Rik |
T |
C |
4: 154,434,091 (GRCm39) |
S92P |
unknown |
Het |
| Carnmt1 |
A |
T |
19: 18,655,228 (GRCm39) |
N127I |
probably benign |
Het |
| Ccdc42 |
A |
G |
11: 68,485,399 (GRCm39) |
T106A |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,002,680 (GRCm39) |
E797G |
probably damaging |
Het |
| Cep112 |
T |
A |
11: 108,555,467 (GRCm39) |
V821D |
probably damaging |
Het |
| Cpvl |
A |
T |
6: 53,909,500 (GRCm39) |
V212D |
probably damaging |
Het |
| Cttnbp2nl |
A |
T |
3: 104,940,062 (GRCm39) |
N2K |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,875,176 (GRCm39) |
|
probably benign |
Het |
| Cyp2u1 |
T |
C |
3: 131,091,605 (GRCm39) |
D305G |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,512,298 (GRCm39) |
|
probably null |
Het |
| Ddx55 |
T |
C |
5: 124,704,919 (GRCm39) |
L396P |
probably benign |
Het |
| Dhx34 |
G |
A |
7: 15,937,623 (GRCm39) |
A786V |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,745,432 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,474 (GRCm39) |
L943* |
probably null |
Het |
| Epm2aip1 |
A |
G |
9: 111,101,728 (GRCm39) |
T234A |
probably benign |
Het |
| Flot2 |
T |
C |
11: 77,948,175 (GRCm39) |
M145T |
probably damaging |
Het |
| Fn3k |
T |
C |
11: 121,339,741 (GRCm39) |
F168L |
probably damaging |
Het |
| Gmfb |
A |
T |
14: 47,052,386 (GRCm39) |
C87S |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,582,084 (GRCm39) |
F180S |
probably damaging |
Het |
| Havcr2 |
C |
T |
11: 46,360,388 (GRCm39) |
T205I |
probably benign |
Het |
| Hdac3 |
C |
T |
18: 38,078,616 (GRCm39) |
C123Y |
probably damaging |
Het |
| Itpk1 |
T |
C |
12: 102,641,712 (GRCm39) |
E37G |
possibly damaging |
Het |
| Jmjd7 |
A |
G |
2: 119,862,467 (GRCm39) |
H283R |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,745,219 (GRCm39) |
S1772P |
possibly damaging |
Het |
| Klhl6 |
T |
C |
16: 19,801,546 (GRCm39) |
T70A |
probably damaging |
Het |
| Kntc1 |
C |
A |
5: 123,925,036 (GRCm39) |
D1116E |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,970,930 (GRCm39) |
H1498Q |
probably damaging |
Het |
| Lamp1 |
A |
T |
8: 13,217,296 (GRCm39) |
T102S |
probably benign |
Het |
| Lrp8 |
A |
G |
4: 107,704,661 (GRCm39) |
N168D |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,671,363 (GRCm39) |
D1515Y |
probably damaging |
Het |
| Obscn |
A |
G |
11: 59,006,715 (GRCm39) |
V1149A |
probably damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,535 (GRCm39) |
T22S |
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,838,902 (GRCm39) |
S210P |
probably damaging |
Het |
| Or52ad1 |
T |
C |
7: 102,995,764 (GRCm39) |
R124G |
probably damaging |
Het |
| Pak4 |
C |
A |
7: 28,264,625 (GRCm39) |
M92I |
possibly damaging |
Het |
| Pcdh9 |
A |
T |
14: 93,253,141 (GRCm39) |
V1174E |
probably benign |
Het |
| Phf8-ps |
G |
A |
17: 33,285,971 (GRCm39) |
T277I |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,719,069 (GRCm39) |
D615G |
probably benign |
Het |
| Senp1 |
A |
T |
15: 97,964,379 (GRCm39) |
D278E |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,817,229 (GRCm39) |
N108D |
probably damaging |
Het |
| Srl |
C |
A |
16: 4,315,415 (GRCm39) |
A76S |
probably damaging |
Het |
| Tbc1d16 |
C |
A |
11: 119,045,921 (GRCm39) |
V509L |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,426,820 (GRCm39) |
F357S |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,570,735 (GRCm39) |
L339P |
probably damaging |
Het |
| Tmem232 |
A |
T |
17: 65,807,112 (GRCm39) |
I27N |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,311,665 (GRCm39) |
D62G |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,853,280 (GRCm39) |
D560A |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,005,579 (GRCm39) |
N405K |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,489,430 (GRCm39) |
I701K |
probably benign |
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 |
|
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'- AGTTATGTAAAGGCCCCTGTCC -3'
(R):5'- GCTCACCCATTCTTAACTTGAAAC -3'
Sequencing Primer
(F):5'- GGCCCCTGTCCATGAAAATC -3'
(R):5'- CCATTTCTAGGTGAGCTTCTGAAGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation