Incidental Mutation 'R5654:Pam'
| ID |
442145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pam
|
| Ensembl Gene |
ENSMUSG00000026335 |
| Gene Name |
peptidylglycine alpha-amidating monooxygenase |
| Synonyms |
PHM |
| MMRRC Submission |
043300-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5654 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
97748816-98023578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97792123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 433
(V433I)
|
| 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: V433I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000057112
Gene: ENSMUSG00000026335
AA Change: V433I
| 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: V433I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095228
Gene: ENSMUSG00000026335
AA Change: V433I
| 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 |
noncoding transcript
Transcript: ENSMUST00000161071
|
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
96% (69/72) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
T |
C |
1: 75,151,479 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
G |
A |
6: 142,571,371 (GRCm39) |
|
probably benign |
Het |
| Acss2 |
T |
C |
2: 155,416,575 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
G |
A |
2: 126,217,725 (GRCm39) |
T597I |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,961,015 (GRCm39) |
N796I |
probably benign |
Het |
| Caskin2 |
T |
C |
11: 115,690,905 (GRCm39) |
|
probably null |
Het |
| Cdhr2 |
A |
G |
13: 54,884,349 (GRCm39) |
N1295D |
probably benign |
Het |
| Cog3 |
G |
A |
14: 75,962,239 (GRCm39) |
T534M |
probably benign |
Het |
| Cpne1 |
A |
G |
2: 155,919,561 (GRCm39) |
S303P |
probably damaging |
Het |
| Cs |
G |
A |
10: 128,187,086 (GRCm39) |
G74S |
possibly damaging |
Het |
| Cyb5r4 |
G |
T |
9: 86,929,533 (GRCm39) |
S229I |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 35,997,400 (GRCm39) |
A531T |
probably benign |
Het |
| Ect2l |
C |
T |
10: 18,018,810 (GRCm39) |
V529M |
probably damaging |
Het |
| Edaradd |
C |
A |
13: 12,493,161 (GRCm39) |
R177L |
possibly damaging |
Het |
| Esf1 |
T |
C |
2: 140,006,148 (GRCm39) |
D333G |
possibly damaging |
Het |
| Fam8a1 |
T |
A |
13: 46,827,814 (GRCm39) |
L334H |
probably damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,871,558 (GRCm39) |
I559T |
probably damaging |
Het |
| Fcrl2 |
A |
C |
3: 87,164,851 (GRCm39) |
V225G |
probably benign |
Het |
| Ido1 |
C |
T |
8: 25,077,819 (GRCm39) |
V83M |
probably damaging |
Het |
| Iffo1 |
T |
G |
6: 125,130,030 (GRCm39) |
C419G |
probably damaging |
Het |
| Igfals |
A |
T |
17: 25,100,439 (GRCm39) |
Y510F |
probably benign |
Het |
| Ipo9 |
A |
T |
1: 135,313,210 (GRCm39) |
Y1006* |
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,065,785 (GRCm39) |
S1737T |
probably benign |
Het |
| Klhl32 |
C |
T |
4: 24,800,805 (GRCm39) |
|
probably null |
Het |
| Klk1b11 |
T |
A |
7: 43,427,810 (GRCm39) |
C173S |
probably damaging |
Het |
| Klk1b24 |
A |
T |
7: 43,840,889 (GRCm39) |
M106L |
probably benign |
Het |
| Lamp1 |
G |
A |
8: 13,221,388 (GRCm39) |
|
probably null |
Het |
| Mapk4 |
A |
T |
18: 74,103,365 (GRCm39) |
V48E |
probably damaging |
Het |
| Marchf6 |
A |
T |
15: 31,486,082 (GRCm39) |
D395E |
probably damaging |
Het |
| Mdp1 |
A |
G |
14: 55,896,465 (GRCm39) |
F157S |
probably damaging |
Het |
| Mettl21e |
A |
T |
1: 44,250,255 (GRCm39) |
F50L |
probably damaging |
Het |
| Mrgpra2a |
A |
G |
7: 47,077,153 (GRCm39) |
I35T |
probably benign |
Het |
| Natd1 |
T |
C |
11: 60,796,892 (GRCm39) |
Y91C |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,633,476 (GRCm39) |
Y2294N |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,610,841 (GRCm39) |
T520A |
probably benign |
Het |
| Nrf1 |
A |
G |
6: 30,117,061 (GRCm39) |
T324A |
probably benign |
Het |
| Or10a2 |
G |
A |
7: 106,673,394 (GRCm39) |
A120T |
probably damaging |
Het |
| Or4k51 |
T |
A |
2: 111,585,326 (GRCm39) |
I244N |
probably damaging |
Het |
| Or52a5 |
A |
C |
7: 103,427,182 (GRCm39) |
D123E |
probably damaging |
Het |
| Or5m11b |
A |
G |
2: 85,806,500 (GRCm39) |
I304M |
probably benign |
Het |
| Pck1 |
T |
A |
2: 173,000,353 (GRCm39) |
Y595N |
probably damaging |
Het |
| Per2 |
C |
T |
1: 91,373,223 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
G |
C |
18: 63,278,162 (GRCm39) |
F247L |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,523,337 (GRCm39) |
Y148C |
probably damaging |
Het |
| Plod2 |
A |
G |
9: 92,475,876 (GRCm39) |
T320A |
probably benign |
Het |
| Ppip5k1 |
G |
A |
2: 121,147,157 (GRCm39) |
R1155C |
probably benign |
Het |
| Ppp1r15b |
C |
T |
1: 133,059,382 (GRCm39) |
|
probably benign |
Het |
| Prkn |
C |
T |
17: 11,456,536 (GRCm39) |
A119V |
probably damaging |
Het |
| Ptprz1 |
G |
T |
6: 22,986,133 (GRCm39) |
C311F |
probably damaging |
Het |
| Rab11fip3 |
A |
T |
17: 26,235,038 (GRCm39) |
V44E |
probably damaging |
Het |
| Rpl5 |
T |
A |
5: 108,051,514 (GRCm39) |
|
probably benign |
Het |
| Rttn |
G |
A |
18: 89,066,556 (GRCm39) |
V1201I |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 141,921,853 (GRCm39) |
N283S |
probably damaging |
Het |
| Shank3 |
T |
A |
15: 89,405,529 (GRCm39) |
N418K |
probably benign |
Het |
| Shmt2 |
T |
C |
10: 127,353,668 (GRCm39) |
D499G |
probably benign |
Het |
| Slc25a46 |
A |
G |
18: 31,716,293 (GRCm39) |
L403S |
probably damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,303,955 (GRCm39) |
T257A |
probably benign |
Het |
| Snrnp35 |
T |
C |
5: 124,628,535 (GRCm39) |
V116A |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,981,538 (GRCm39) |
F593I |
probably damaging |
Het |
| Tmem171 |
C |
A |
13: 98,828,574 (GRCm39) |
R192L |
probably benign |
Het |
| Trappc3l |
T |
A |
10: 33,978,703 (GRCm39) |
L169Q |
unknown |
Het |
| Ube2s |
T |
C |
7: 4,811,431 (GRCm39) |
E148G |
probably damaging |
Het |
| Uspl1 |
T |
C |
5: 149,146,521 (GRCm39) |
F424S |
probably damaging |
Het |
| Vmn1r2 |
T |
C |
4: 3,172,261 (GRCm39) |
V60A |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,829,575 (GRCm39) |
|
probably null |
Het |
| Zfp735 |
C |
T |
11: 73,602,964 (GRCm39) |
S636L |
possibly damaging |
Het |
| Zswim9 |
G |
A |
7: 12,995,094 (GRCm39) |
S354F |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2016-11-09 |
Incidental Mutation