Incidental Mutation 'IGL02732:Pamr1'
ID |
305495 |
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 # |
IGL02732
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
102380357-102473386 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 102472486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 595
(H595L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028612
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028612]
|
AlphaFold |
Q8BU25 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028612
AA Change: H595L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000028612 Gene: ENSMUSG00000027188 AA Change: H595L
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apoo-ps |
C |
A |
13: 107,551,123 (GRCm39) |
|
noncoding transcript |
Het |
Ash1l |
T |
A |
3: 88,873,535 (GRCm39) |
V106E |
probably damaging |
Het |
Baz2a |
A |
G |
10: 127,961,044 (GRCm39) |
T1618A |
possibly damaging |
Het |
Brca1 |
A |
G |
11: 101,383,045 (GRCm39) |
S1732P |
probably benign |
Het |
Cdh1 |
T |
A |
8: 107,392,955 (GRCm39) |
I813N |
probably damaging |
Het |
Cdk5rap2 |
G |
A |
4: 70,184,902 (GRCm39) |
R1183* |
probably null |
Het |
Cep170 |
C |
T |
1: 176,564,440 (GRCm39) |
E1479K |
probably damaging |
Het |
Cep68 |
A |
T |
11: 20,186,109 (GRCm39) |
|
probably benign |
Het |
Cog7 |
C |
T |
7: 121,522,590 (GRCm39) |
V750I |
probably benign |
Het |
Cplane1 |
A |
G |
15: 8,209,375 (GRCm39) |
T271A |
probably benign |
Het |
Cyb5d1 |
A |
C |
11: 69,284,635 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
A |
G |
2: 156,591,243 (GRCm39) |
K120E |
probably benign |
Het |
Dmtf1 |
T |
C |
5: 9,186,098 (GRCm39) |
I75V |
possibly damaging |
Het |
Fnip2 |
T |
C |
3: 79,373,004 (GRCm39) |
T995A |
probably damaging |
Het |
Hecw2 |
G |
A |
1: 53,965,847 (GRCm39) |
|
probably benign |
Het |
Il17rd |
T |
A |
14: 26,809,376 (GRCm39) |
F111I |
probably damaging |
Het |
Itgb8 |
A |
C |
12: 119,127,088 (GRCm39) |
M722R |
probably benign |
Het |
Maip1 |
A |
G |
1: 57,449,114 (GRCm39) |
D165G |
probably damaging |
Het |
Mcm6 |
A |
T |
1: 128,287,227 (GRCm39) |
C26S |
probably benign |
Het |
Mdp1 |
T |
C |
14: 55,896,678 (GRCm39) |
I128V |
possibly damaging |
Het |
Myof |
A |
T |
19: 37,966,164 (GRCm39) |
F385L |
possibly damaging |
Het |
Nebl |
C |
T |
2: 17,457,295 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
A |
G |
2: 119,466,061 (GRCm39) |
E227G |
probably damaging |
Het |
Or4b13 |
A |
G |
2: 90,082,652 (GRCm39) |
S227P |
probably damaging |
Het |
Or51m1 |
T |
G |
7: 103,578,336 (GRCm39) |
M102R |
probably damaging |
Het |
Or52e3 |
A |
C |
7: 102,869,447 (GRCm39) |
N174T |
probably benign |
Het |
Pate5 |
C |
T |
9: 35,750,345 (GRCm39) |
G109D |
probably damaging |
Het |
Pdgfc |
G |
A |
3: 80,944,864 (GRCm39) |
|
probably benign |
Het |
Pierce1 |
T |
C |
2: 28,355,192 (GRCm39) |
N91S |
probably damaging |
Het |
Ptpn22 |
A |
T |
3: 103,793,349 (GRCm39) |
E500V |
probably damaging |
Het |
Ptprg |
G |
T |
14: 12,225,617 (GRCm38) |
|
probably null |
Het |
R3hdm2 |
T |
C |
10: 127,319,929 (GRCm39) |
F513L |
probably benign |
Het |
Ramac |
T |
C |
7: 81,417,473 (GRCm39) |
|
probably null |
Het |
Rhobtb3 |
C |
A |
13: 76,059,056 (GRCm39) |
L247F |
probably damaging |
Het |
Scfd1 |
T |
C |
12: 51,469,756 (GRCm39) |
S434P |
probably benign |
Het |
Serpinb3d |
T |
A |
1: 107,010,526 (GRCm39) |
|
probably null |
Het |
Sin3b |
T |
C |
8: 73,460,081 (GRCm39) |
F223L |
possibly damaging |
Het |
Slc9c1 |
T |
C |
16: 45,370,548 (GRCm39) |
V263A |
possibly damaging |
Het |
Sntb1 |
A |
G |
15: 55,655,596 (GRCm39) |
S207P |
possibly damaging |
Het |
Sqor |
A |
T |
2: 122,641,682 (GRCm39) |
T1S |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ssh2 |
A |
G |
11: 77,328,602 (GRCm39) |
|
probably null |
Het |
Tasor2 |
A |
G |
13: 3,623,626 (GRCm39) |
V2108A |
probably benign |
Het |
Tmod2 |
A |
G |
9: 75,493,454 (GRCm39) |
V167A |
possibly damaging |
Het |
Trak2 |
G |
A |
1: 58,949,222 (GRCm39) |
T526M |
probably benign |
Het |
Trdn |
G |
A |
10: 33,344,195 (GRCm39) |
|
probably null |
Het |
Trim5 |
T |
A |
7: 103,927,672 (GRCm39) |
E156V |
probably benign |
Het |
Twf1 |
A |
G |
15: 94,478,890 (GRCm39) |
S273P |
probably damaging |
Het |
Xylt1 |
T |
C |
7: 117,191,164 (GRCm39) |
V320A |
possibly damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
IGL02621:Pamr1
|
APN |
2 |
102,464,688 (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 |