Incidental Mutation 'R1881:Pam'
| ID |
209085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pam
|
| Ensembl Gene |
ENSMUSG00000026335 |
| Gene Name |
peptidylglycine alpha-amidating monooxygenase |
| Synonyms |
PHM |
| MMRRC Submission |
039902-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1881 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
97748816-98023578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97850876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 161
(T161A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058762]
[ENSMUST00000097625]
[ENSMUST00000161567]
|
| AlphaFold |
P97467 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058762
AA Change: T161A
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335
AA Change: T161A
| 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: T161A
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335
AA Change: T161A
| 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: ENSMUST00000161567
AA Change: T161A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000125418
Gene: ENSMUSG00000026335
AA Change: T161A
| 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 |
0.0854 |
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.3%
|
| Validation Efficiency |
96% (71/74) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
A |
11: 84,161,213 (GRCm39) |
Y1026* |
probably null |
Het |
| Acaca |
T |
G |
11: 84,191,297 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,678,503 (GRCm39) |
M483I |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 129,904,078 (GRCm39) |
G735S |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,100,173 (GRCm39) |
T2612A |
probably benign |
Het |
| Armc1 |
A |
T |
3: 19,189,060 (GRCm39) |
S202T |
possibly damaging |
Het |
| Arsj |
T |
C |
3: 126,232,486 (GRCm39) |
S411P |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,888,862 (GRCm39) |
V247A |
probably benign |
Het |
| Camta2 |
T |
C |
11: 70,562,842 (GRCm39) |
D935G |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,898,170 (GRCm39) |
V1626F |
probably damaging |
Het |
| Cpne3 |
T |
A |
4: 19,535,266 (GRCm39) |
R255S |
probably benign |
Het |
| Cramp1 |
A |
G |
17: 25,196,656 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,176,735 (GRCm39) |
|
probably null |
Het |
| Cstf3 |
A |
T |
2: 104,484,563 (GRCm39) |
M396L |
probably benign |
Het |
| Ctnnd2 |
A |
G |
15: 31,005,227 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
A |
T |
17: 46,962,888 (GRCm39) |
Y173F |
probably damaging |
Het |
| Dach1 |
A |
T |
14: 98,138,832 (GRCm39) |
M537K |
probably benign |
Het |
| Ddhd2 |
T |
C |
8: 26,217,727 (GRCm39) |
I717V |
probably damaging |
Het |
| Dnm1 |
C |
T |
2: 32,213,742 (GRCm39) |
V475I |
probably damaging |
Het |
| Dnm3 |
C |
T |
1: 162,305,517 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,405,597 (GRCm39) |
|
probably benign |
Het |
| Eaf2 |
A |
T |
16: 36,620,941 (GRCm39) |
|
probably benign |
Het |
| En1 |
T |
A |
1: 120,530,904 (GRCm39) |
V48E |
unknown |
Het |
| Eral1 |
T |
A |
11: 77,966,875 (GRCm39) |
H180L |
possibly damaging |
Het |
| Fry |
T |
A |
5: 150,401,511 (GRCm39) |
C2760S |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,336 (GRCm39) |
A113V |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,514,651 (GRCm39) |
V3574M |
probably benign |
Het |
| Ifnl2 |
T |
A |
7: 28,209,112 (GRCm39) |
R68W |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,640,947 (GRCm39) |
T908A |
probably damaging |
Het |
| Krtap4-1 |
C |
T |
11: 99,518,990 (GRCm39) |
G7S |
probably null |
Het |
| Ly75 |
T |
C |
2: 60,180,284 (GRCm39) |
E631G |
probably benign |
Het |
| Mup5 |
C |
A |
4: 61,752,868 (GRCm39) |
E52* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,891,446 (GRCm39) |
I189V |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,688,420 (GRCm39) |
Q619L |
probably damaging |
Het |
| Or14a257 |
T |
C |
7: 86,138,646 (GRCm39) |
M38V |
probably benign |
Het |
| Or1p1 |
A |
T |
11: 74,179,492 (GRCm39) |
T7S |
probably benign |
Het |
| Or4n4b |
A |
G |
14: 50,536,472 (GRCm39) |
I98T |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,354,335 (GRCm39) |
S91P |
probably damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,284,258 (GRCm39) |
D848V |
probably damaging |
Het |
| Pigs |
T |
C |
11: 78,232,582 (GRCm39) |
V472A |
probably benign |
Het |
| Plek |
A |
T |
11: 16,940,111 (GRCm39) |
N176K |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,535,239 (GRCm39) |
N168S |
probably benign |
Het |
| Pomt2 |
G |
T |
12: 87,182,370 (GRCm39) |
A219D |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,033,336 (GRCm39) |
S716T |
probably damaging |
Het |
| Sema4b |
A |
T |
7: 79,866,540 (GRCm39) |
S207C |
probably damaging |
Het |
| Slc25a20 |
G |
A |
9: 108,557,408 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
A |
T |
5: 31,194,155 (GRCm39) |
L634Q |
probably damaging |
Het |
| Slfn3 |
A |
G |
11: 83,104,202 (GRCm39) |
I235V |
possibly damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,004,167 (GRCm39) |
L407Q |
probably damaging |
Het |
| Spata32 |
T |
C |
11: 103,101,561 (GRCm39) |
|
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,723,783 (GRCm39) |
|
probably null |
Het |
| Thada |
A |
G |
17: 84,744,130 (GRCm39) |
V726A |
probably benign |
Het |
| Tmed7 |
A |
T |
18: 46,721,622 (GRCm39) |
|
probably null |
Het |
| Tmem161a |
G |
A |
8: 70,633,435 (GRCm39) |
G94S |
probably null |
Het |
| Tmem81 |
T |
A |
1: 132,435,948 (GRCm39) |
|
probably benign |
Het |
| Trim63 |
C |
A |
4: 134,043,702 (GRCm39) |
A55E |
probably damaging |
Het |
| Trmt1 |
A |
C |
8: 85,415,896 (GRCm39) |
|
probably benign |
Het |
| Trpv4 |
C |
T |
5: 114,761,687 (GRCm39) |
V814M |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,471,079 (GRCm39) |
S1023P |
possibly damaging |
Het |
| Upk3bl |
G |
A |
5: 136,086,157 (GRCm39) |
R31Q |
probably benign |
Het |
| Usp40 |
T |
C |
1: 87,921,993 (GRCm39) |
D290G |
probably benign |
Het |
| Vmn1r192 |
G |
T |
13: 22,371,764 (GRCm39) |
A152E |
probably benign |
Het |
| Vmn1r26 |
T |
A |
6: 57,985,650 (GRCm39) |
T180S |
probably benign |
Het |
| Wdr48 |
G |
T |
9: 119,738,606 (GRCm39) |
V89L |
probably benign |
Het |
| Wdr6 |
G |
T |
9: 108,450,378 (GRCm39) |
|
probably null |
Het |
| Zfp345 |
A |
G |
2: 150,314,275 (GRCm39) |
Y421H |
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 |
|
|
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'- AGCCAATTCCTTCAATAGTTGC -3'
(R):5'- TGGCCAATGGAGTTCTTTCATG -3'
Sequencing Primer
(F):5'- ACTAAAGGCAGCTGTCCCTGTTG -3'
(R):5'- TGTTTCATGACCAGCAGC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation