Incidental Mutation 'R6834:Pam'
ID |
534477 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pam
|
Ensembl Gene |
ENSMUSG00000026335 |
Gene Name |
peptidylglycine alpha-amidating monooxygenase |
Synonyms |
PHM |
MMRRC Submission |
044943-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6834 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
97748816-98023578 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 97765717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 771
(I771F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058762]
[ENSMUST00000097625]
[ENSMUST00000161567]
|
AlphaFold |
P97467 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058762
AA Change: I771F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000057112 Gene: ENSMUSG00000026335 AA Change: I771F
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 damaging
Transcript: ENSMUST00000097625
AA Change: I771F
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000095228 Gene: ENSMUSG00000026335 AA Change: I771F
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: ENSMUSP00000124284 Gene: ENSMUSG00000026335 AA Change: I134F
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
44 |
N/A |
INTRINSIC |
Pfam:NHL
|
50 |
78 |
4.2e-9 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161567
AA Change: I665F
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000125418 Gene: ENSMUSG00000026335 AA Change: I665F
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 |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000125133 Gene: ENSMUSG00000026335 AA Change: I66F
Domain | Start | End | E-Value | Type |
Pfam:NHL
|
78 |
105 |
6.2e-8 |
PFAM |
low complexity region
|
160 |
179 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3299 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,225,110 (GRCm39) |
W530R |
possibly damaging |
Het |
Aco1 |
A |
G |
4: 40,164,747 (GRCm39) |
K79R |
probably benign |
Het |
Adam15 |
C |
T |
3: 89,247,390 (GRCm39) |
G426R |
probably damaging |
Het |
Angptl1 |
A |
T |
1: 156,672,263 (GRCm39) |
I30L |
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,590,599 (GRCm39) |
E295G |
possibly damaging |
Het |
Ap5m1 |
T |
A |
14: 49,311,194 (GRCm39) |
V88E |
probably damaging |
Het |
Astn1 |
A |
T |
1: 158,491,692 (GRCm39) |
Q47L |
probably benign |
Het |
Atf6b |
T |
C |
17: 34,868,131 (GRCm39) |
S135P |
probably damaging |
Het |
AU018091 |
T |
A |
7: 3,207,795 (GRCm39) |
I589F |
probably benign |
Het |
Cdin1 |
T |
C |
2: 115,505,265 (GRCm39) |
S179P |
probably benign |
Het |
Cenpf |
T |
C |
1: 189,391,643 (GRCm39) |
K730E |
probably damaging |
Het |
Chrna6 |
C |
T |
8: 27,898,338 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
A |
T |
18: 50,088,890 (GRCm39) |
I2790F |
probably damaging |
Het |
Ell |
A |
G |
8: 71,031,784 (GRCm39) |
D116G |
probably damaging |
Het |
Eml5 |
A |
T |
12: 98,853,283 (GRCm39) |
H105Q |
probably damaging |
Het |
Epb41l2 |
T |
A |
10: 25,369,502 (GRCm39) |
V23D |
possibly damaging |
Het |
Gatad2b |
T |
A |
3: 90,255,950 (GRCm39) |
S139T |
probably benign |
Het |
Glb1l |
A |
G |
1: 75,178,397 (GRCm39) |
V347A |
possibly damaging |
Het |
Gm4846 |
A |
T |
1: 166,322,147 (GRCm39) |
I140N |
possibly damaging |
Het |
Gng11 |
A |
G |
6: 4,008,068 (GRCm39) |
I44V |
probably benign |
Het |
Hsd17b8 |
T |
C |
17: 34,246,191 (GRCm39) |
S161G |
probably damaging |
Het |
Hsp90ab1 |
T |
C |
17: 45,881,393 (GRCm39) |
I250V |
probably benign |
Het |
Igkv4-79 |
A |
G |
6: 69,020,256 (GRCm39) |
S20P |
probably damaging |
Het |
Il11ra1 |
A |
G |
4: 41,765,454 (GRCm39) |
H183R |
probably benign |
Het |
Kcnip3 |
A |
T |
2: 127,300,278 (GRCm39) |
F252I |
probably damaging |
Het |
Klk12 |
T |
C |
7: 43,422,772 (GRCm39) |
V233A |
possibly damaging |
Het |
Klk1b11 |
T |
C |
7: 43,428,336 (GRCm39) |
I242T |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
Lmod2 |
A |
T |
6: 24,597,782 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
T |
A |
18: 77,529,222 (GRCm39) |
V1089E |
probably damaging |
Het |
Lrba |
C |
T |
3: 86,257,593 (GRCm39) |
P1286S |
probably benign |
Het |
Lrrc41 |
T |
C |
4: 115,953,726 (GRCm39) |
V804A |
possibly damaging |
Het |
Lrrc8a |
T |
A |
2: 30,145,659 (GRCm39) |
S158T |
possibly damaging |
Het |
Mcm3 |
A |
T |
1: 20,880,320 (GRCm39) |
M504K |
possibly damaging |
Het |
Med24 |
A |
T |
11: 98,595,850 (GRCm39) |
|
probably null |
Het |
Mrgprx1 |
T |
C |
7: 47,671,385 (GRCm39) |
S121G |
probably damaging |
Het |
Mvb12a |
G |
A |
8: 71,997,896 (GRCm39) |
M103I |
probably benign |
Het |
Or4k15c |
A |
G |
14: 50,321,685 (GRCm39) |
V151A |
probably damaging |
Het |
Or4k2 |
T |
C |
14: 50,423,940 (GRCm39) |
I245V |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pacsin3 |
T |
A |
2: 91,093,180 (GRCm39) |
M224K |
probably damaging |
Het |
Pamr1 |
C |
T |
2: 102,445,276 (GRCm39) |
R270C |
probably damaging |
Het |
Pcdhgb8 |
G |
T |
18: 37,895,142 (GRCm39) |
A71S |
probably benign |
Het |
Poc1b |
C |
T |
10: 99,028,666 (GRCm39) |
A336V |
probably benign |
Het |
Prss39 |
G |
T |
1: 34,537,697 (GRCm39) |
V54F |
possibly damaging |
Het |
Ptar1 |
A |
G |
19: 23,695,288 (GRCm39) |
T252A |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 22,999,632 (GRCm39) |
D574G |
probably benign |
Het |
Rnf40 |
G |
A |
7: 127,195,578 (GRCm39) |
D635N |
probably benign |
Het |
Scn1a |
T |
A |
2: 66,158,086 (GRCm39) |
Q429L |
probably damaging |
Het |
Sf1 |
G |
T |
19: 6,424,127 (GRCm39) |
G386C |
probably damaging |
Het |
Shank2 |
A |
T |
7: 143,963,631 (GRCm39) |
Y623F |
probably damaging |
Het |
Slc9a5 |
G |
T |
8: 106,091,316 (GRCm39) |
A699S |
probably benign |
Het |
Sox9 |
A |
T |
11: 112,674,826 (GRCm39) |
Q208L |
probably benign |
Het |
Synpo2l |
A |
T |
14: 20,710,702 (GRCm39) |
D865E |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,245,522 (GRCm39) |
S1097P |
probably benign |
Het |
Tmc1 |
C |
A |
19: 20,772,974 (GRCm39) |
E676* |
probably null |
Het |
Ubr3 |
T |
C |
2: 69,830,825 (GRCm39) |
I158T |
possibly damaging |
Het |
Ush2a |
T |
C |
1: 188,088,989 (GRCm39) |
Y315H |
probably damaging |
Het |
Vmn1r85 |
T |
C |
7: 12,818,571 (GRCm39) |
D191G |
probably damaging |
Het |
Vmn2r-ps158 |
G |
C |
7: 42,673,004 (GRCm39) |
A143P |
probably damaging |
Het |
Zfp358 |
A |
G |
8: 3,545,613 (GRCm39) |
D92G |
probably benign |
Het |
Zfp735 |
G |
A |
11: 73,601,434 (GRCm39) |
G126D |
probably damaging |
Het |
Zpld2 |
A |
C |
4: 133,920,476 (GRCm39) |
V563G |
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 |
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 |
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'- ATCTGGAAATACGGACATTTAGGG -3'
(R):5'- ATAGGGACCAGGTTTGACCC -3'
Sequencing Primer
(F):5'- AAATACGGACATTTAGGGAAAGAC -3'
(R):5'- GACCAGGTTTGACCCTAACTATATTG -3'
|
Posted On |
2018-09-12 |