Incidental Mutation 'R4231:Pam'
ID |
320818 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pam
|
Ensembl Gene |
ENSMUSG00000026335 |
Gene Name |
peptidylglycine alpha-amidating monooxygenase |
Synonyms |
PHM |
MMRRC Submission |
041050-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4231 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
97748816-98023578 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 97811849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125418
(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 null
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192914
|
Meta Mutation Damage Score |
0.9490 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
99% (75/76) |
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 |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,187,821 (GRCm39) |
D1745V |
probably damaging |
Het |
Aldh5a1 |
C |
T |
13: 25,095,636 (GRCm39) |
G494R |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,697,701 (GRCm39) |
D1034G |
probably benign |
Het |
Aox3 |
T |
A |
1: 58,154,044 (GRCm39) |
N23K |
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
Bltp1 |
C |
T |
3: 36,974,385 (GRCm39) |
T663I |
probably benign |
Het |
Cacnb2 |
A |
G |
2: 14,986,251 (GRCm39) |
K343E |
probably damaging |
Het |
Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
Cd93 |
A |
T |
2: 148,284,880 (GRCm39) |
H155Q |
probably benign |
Het |
Cox6b2 |
T |
C |
7: 4,755,834 (GRCm39) |
M1V |
probably null |
Het |
Crat |
T |
C |
2: 30,303,023 (GRCm39) |
E88G |
possibly damaging |
Het |
Ddx1 |
C |
T |
12: 13,273,858 (GRCm39) |
V590I |
possibly damaging |
Het |
Dip2a |
G |
A |
10: 76,155,304 (GRCm39) |
P94S |
probably damaging |
Het |
Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
Filip1l |
T |
C |
16: 57,327,131 (GRCm39) |
S54P |
probably benign |
Het |
Gm12887 |
A |
T |
4: 121,479,299 (GRCm39) |
M1K |
probably null |
Het |
Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
Insyn2b |
A |
T |
11: 34,353,143 (GRCm39) |
E395V |
probably benign |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Irak2 |
A |
G |
6: 113,667,817 (GRCm39) |
E466G |
probably damaging |
Het |
Irgm2 |
C |
T |
11: 58,110,304 (GRCm39) |
|
probably benign |
Het |
Jak3 |
T |
A |
8: 72,138,189 (GRCm39) |
V880D |
probably damaging |
Het |
Jmy |
G |
T |
13: 93,635,433 (GRCm39) |
P128T |
probably benign |
Het |
Kif20a |
A |
G |
18: 34,765,091 (GRCm39) |
N775S |
probably benign |
Het |
Kremen1 |
G |
A |
11: 5,193,881 (GRCm39) |
Q50* |
probably null |
Het |
Lrrc71 |
A |
G |
3: 87,648,298 (GRCm39) |
I438T |
probably benign |
Het |
Map3k1 |
T |
C |
13: 111,905,028 (GRCm39) |
T374A |
probably benign |
Het |
Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
Mta1 |
T |
C |
12: 113,099,447 (GRCm39) |
M603T |
possibly damaging |
Het |
Myo5a |
A |
G |
9: 75,097,279 (GRCm39) |
N1319S |
possibly damaging |
Het |
Nalcn |
T |
A |
14: 123,837,325 (GRCm39) |
Q13L |
probably benign |
Het |
Nbas |
A |
G |
12: 13,443,344 (GRCm39) |
N1133S |
probably damaging |
Het |
Nsun2 |
A |
G |
13: 69,767,660 (GRCm39) |
N205D |
probably damaging |
Het |
Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
Or13a20 |
T |
C |
7: 140,232,653 (GRCm39) |
Y254H |
probably damaging |
Het |
Or4f17-ps1 |
C |
T |
2: 111,358,546 (GRCm39) |
R314C |
probably damaging |
Het |
Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
Pcdh7 |
G |
A |
5: 57,876,631 (GRCm39) |
G62D |
possibly damaging |
Het |
Plxna2 |
C |
T |
1: 194,326,762 (GRCm39) |
T232I |
probably damaging |
Het |
Prkar1b |
A |
G |
5: 139,094,376 (GRCm39) |
S71P |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,522,144 (GRCm39) |
Y602* |
probably null |
Het |
Rfx4 |
A |
T |
10: 84,650,558 (GRCm39) |
M84L |
probably benign |
Het |
Rfx7 |
A |
T |
9: 72,526,672 (GRCm39) |
E1287D |
possibly damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rnf216 |
A |
T |
5: 143,078,845 (GRCm39) |
S35T |
probably damaging |
Het |
Rps6kc1 |
A |
G |
1: 190,541,097 (GRCm39) |
V402A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sart3 |
A |
G |
5: 113,909,479 (GRCm39) |
M73T |
probably benign |
Het |
Scn10a |
G |
T |
9: 119,460,610 (GRCm39) |
T1088K |
probably damaging |
Het |
Senp2 |
T |
C |
16: 21,830,304 (GRCm39) |
|
probably null |
Het |
Setd7 |
T |
C |
3: 51,450,151 (GRCm39) |
N92D |
probably benign |
Het |
Sipa1 |
A |
T |
19: 5,704,117 (GRCm39) |
L735Q |
probably damaging |
Het |
Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
Slitrk6 |
A |
T |
14: 110,988,820 (GRCm39) |
S296T |
probably benign |
Het |
Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
Tex15 |
T |
C |
8: 34,062,165 (GRCm39) |
S806P |
probably damaging |
Het |
Tgm3 |
A |
T |
2: 129,886,509 (GRCm39) |
K577* |
probably null |
Het |
Wscd2 |
A |
G |
5: 113,699,045 (GRCm39) |
D200G |
probably benign |
Het |
Xpo6 |
T |
C |
7: 125,773,354 (GRCm39) |
T24A |
possibly damaging |
Het |
Zfhx2 |
A |
G |
14: 55,310,991 (GRCm39) |
C568R |
possibly damaging |
Het |
Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
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 |
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'- GGTTAAGTGTGATAAATGGCCAC -3'
(R):5'- ACAAGACGGATGGTTGTGCTG -3'
Sequencing Primer
(F):5'- CAGTGAAGATATGGTCTGAGG -3'
(R):5'- CCAGTGTAATGAACATAAGGTCCTG -3'
|
Posted On |
2015-06-12 |