Incidental Mutation 'IGL02621:Pamr1'
ID |
300867 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pamr1
|
Ensembl Gene |
ENSMUSG00000027188 |
Gene Name |
peptidase domain containing associated with muscle regeneration 1 |
Synonyms |
E430002G05Rik, RAMP |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
IGL02621
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
102380357-102473386 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102464688 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 279
(N279S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028612
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028612]
|
AlphaFold |
Q8BU25 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028612
AA Change: N279S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000028612 Gene: ENSMUSG00000027188 AA Change: N279S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
EGF
|
84 |
126 |
1.18e1 |
SMART |
CUB
|
128 |
236 |
1.07e-33 |
SMART |
EGF
|
238 |
272 |
4.12e-7 |
SMART |
CCP
|
280 |
342 |
1.3e-9 |
SMART |
CCP
|
389 |
442 |
6.7e-3 |
SMART |
Tryp_SPc
|
444 |
715 |
1.02e-34 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143071
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144333
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002L01Rik |
C |
A |
12: 3,476,688 (GRCm39) |
|
probably benign |
Het |
2210408I21Rik |
T |
C |
13: 77,408,150 (GRCm39) |
I159T |
possibly damaging |
Het |
Agpat3 |
T |
A |
10: 78,120,900 (GRCm39) |
I93F |
probably damaging |
Het |
Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
Atr |
G |
A |
9: 95,790,453 (GRCm39) |
A1598T |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,095,633 (GRCm39) |
|
probably benign |
Het |
Clk1 |
T |
C |
1: 58,453,614 (GRCm39) |
D324G |
probably damaging |
Het |
Cntnap4 |
A |
T |
8: 113,537,355 (GRCm39) |
D742V |
probably damaging |
Het |
Esrrb |
A |
G |
12: 86,468,735 (GRCm39) |
N16S |
probably benign |
Het |
Grm1 |
A |
T |
10: 10,564,755 (GRCm39) |
Y1184* |
probably null |
Het |
Hint1 |
G |
T |
11: 54,761,011 (GRCm39) |
|
probably benign |
Het |
Itch |
A |
T |
2: 155,014,504 (GRCm39) |
|
probably null |
Het |
Lmod3 |
T |
C |
6: 97,215,796 (GRCm39) |
|
probably benign |
Het |
Map3k4 |
C |
A |
17: 12,482,900 (GRCm39) |
A606S |
probably damaging |
Het |
Mapk4 |
A |
T |
18: 74,103,346 (GRCm39) |
S54R |
probably damaging |
Het |
Megf11 |
A |
G |
9: 64,601,214 (GRCm39) |
D807G |
probably benign |
Het |
Mgat5 |
A |
G |
1: 127,325,326 (GRCm39) |
T398A |
possibly damaging |
Het |
Nme8 |
T |
G |
13: 19,859,818 (GRCm39) |
K28N |
probably damaging |
Het |
Pcca |
A |
T |
14: 122,922,391 (GRCm39) |
D384V |
probably damaging |
Het |
Prkag1 |
A |
T |
15: 98,711,909 (GRCm39) |
I239N |
probably damaging |
Het |
Psme4 |
A |
G |
11: 30,798,131 (GRCm39) |
T1375A |
probably benign |
Het |
Ptk2 |
A |
C |
15: 73,077,994 (GRCm39) |
L1024R |
probably damaging |
Het |
Rere |
G |
A |
4: 150,698,269 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
G |
2: 65,579,223 (GRCm39) |
|
probably benign |
Het |
Sema5a |
T |
A |
15: 32,538,802 (GRCm39) |
|
probably benign |
Het |
Shoc1 |
A |
T |
4: 59,062,668 (GRCm39) |
W863R |
probably damaging |
Het |
Slc9a1 |
T |
A |
4: 133,097,879 (GRCm39) |
W9R |
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,187,741 (GRCm39) |
M533L |
probably benign |
Het |
Ttll4 |
T |
A |
1: 74,726,643 (GRCm39) |
S720T |
probably damaging |
Het |
Vmn1r168 |
A |
T |
7: 23,240,780 (GRCm39) |
R212S |
probably damaging |
Het |
Vmn2r114 |
T |
C |
17: 23,529,494 (GRCm39) |
I203V |
probably damaging |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
|
Other mutations in Pamr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00503:Pamr1
|
APN |
2 |
102,472,617 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL00741:Pamr1
|
APN |
2 |
102,416,966 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL00928:Pamr1
|
APN |
2 |
102,469,686 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01328:Pamr1
|
APN |
2 |
102,472,482 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02732:Pamr1
|
APN |
2 |
102,472,486 (GRCm39) |
missense |
probably benign |
0.03 |
R0020:Pamr1
|
UTSW |
2 |
102,472,423 (GRCm39) |
missense |
probably benign |
0.19 |
R0743:Pamr1
|
UTSW |
2 |
102,440,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R1068:Pamr1
|
UTSW |
2 |
102,472,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R1127:Pamr1
|
UTSW |
2 |
102,469,698 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1711:Pamr1
|
UTSW |
2 |
102,471,197 (GRCm39) |
missense |
probably benign |
0.28 |
R1912:Pamr1
|
UTSW |
2 |
102,472,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R1926:Pamr1
|
UTSW |
2 |
102,471,342 (GRCm39) |
splice site |
probably null |
|
R1937:Pamr1
|
UTSW |
2 |
102,472,617 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2021:Pamr1
|
UTSW |
2 |
102,464,880 (GRCm39) |
missense |
probably benign |
0.00 |
R2023:Pamr1
|
UTSW |
2 |
102,464,880 (GRCm39) |
missense |
probably benign |
0.00 |
R4718:Pamr1
|
UTSW |
2 |
102,472,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R4934:Pamr1
|
UTSW |
2 |
102,472,549 (GRCm39) |
missense |
probably benign |
0.21 |
R5268:Pamr1
|
UTSW |
2 |
102,417,029 (GRCm39) |
missense |
probably damaging |
0.98 |
R5450:Pamr1
|
UTSW |
2 |
102,469,662 (GRCm39) |
missense |
probably damaging |
0.98 |
R5864:Pamr1
|
UTSW |
2 |
102,464,693 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6112:Pamr1
|
UTSW |
2 |
102,441,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R6286:Pamr1
|
UTSW |
2 |
102,471,293 (GRCm39) |
nonsense |
probably null |
|
R6327:Pamr1
|
UTSW |
2 |
102,472,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R6831:Pamr1
|
UTSW |
2 |
102,445,276 (GRCm39) |
missense |
probably damaging |
0.97 |
R6834:Pamr1
|
UTSW |
2 |
102,445,276 (GRCm39) |
missense |
probably damaging |
0.97 |
R6980:Pamr1
|
UTSW |
2 |
102,472,549 (GRCm39) |
missense |
probably benign |
0.21 |
R7000:Pamr1
|
UTSW |
2 |
102,441,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R7073:Pamr1
|
UTSW |
2 |
102,471,280 (GRCm39) |
missense |
probably benign |
0.00 |
R7255:Pamr1
|
UTSW |
2 |
102,441,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R7357:Pamr1
|
UTSW |
2 |
102,417,049 (GRCm39) |
nonsense |
probably null |
|
R7851:Pamr1
|
UTSW |
2 |
102,416,945 (GRCm39) |
missense |
probably benign |
0.02 |
R8745:Pamr1
|
UTSW |
2 |
102,441,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R8766:Pamr1
|
UTSW |
2 |
102,380,538 (GRCm39) |
start codon destroyed |
probably null |
0.90 |
R8817:Pamr1
|
UTSW |
2 |
102,464,766 (GRCm39) |
missense |
probably benign |
0.05 |
R8964:Pamr1
|
UTSW |
2 |
102,464,811 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8977:Pamr1
|
UTSW |
2 |
102,441,963 (GRCm39) |
missense |
probably damaging |
0.96 |
R9081:Pamr1
|
UTSW |
2 |
102,441,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R9139:Pamr1
|
UTSW |
2 |
102,464,766 (GRCm39) |
missense |
probably benign |
0.19 |
X0067:Pamr1
|
UTSW |
2 |
102,469,680 (GRCm39) |
nonsense |
probably null |
|
Z1088:Pamr1
|
UTSW |
2 |
102,464,791 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Posted On |
2015-04-16 |