Incidental Mutation 'IGL00503:Pamr1'
| ID |
332495 |
| 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 # |
IGL00503
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
102380357-102473386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102472617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 639
(I639F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028612]
|
| AlphaFold |
Q8BU25 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028612
AA Change: I639F
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028612
Gene: ENSMUSG00000027188
AA Change: I639F
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
T |
A |
18: 69,083,173 (GRCm39) |
R14* |
probably null |
Het |
| Abcb5 |
A |
G |
12: 118,871,336 (GRCm39) |
S688P |
probably benign |
Het |
| Adgb |
T |
A |
10: 10,281,843 (GRCm39) |
Q597L |
possibly damaging |
Het |
| Aga |
G |
A |
8: 53,971,956 (GRCm39) |
V210I |
probably benign |
Het |
| Akap17b |
A |
G |
X: 35,875,963 (GRCm39) |
S515P |
probably damaging |
Het |
| Brinp3 |
A |
T |
1: 146,776,905 (GRCm39) |
T451S |
probably benign |
Het |
| Cabcoco1 |
G |
T |
10: 68,377,635 (GRCm39) |
T18N |
possibly damaging |
Het |
| Ccar2 |
C |
T |
14: 70,379,980 (GRCm39) |
W402* |
probably null |
Het |
| Ccdc15 |
G |
A |
9: 37,231,769 (GRCm39) |
A185V |
probably damaging |
Het |
| Ccdc50 |
G |
A |
16: 27,228,102 (GRCm39) |
E90K |
probably damaging |
Het |
| Cckbr |
G |
A |
7: 105,083,449 (GRCm39) |
M217I |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,512,513 (GRCm39) |
T398A |
possibly damaging |
Het |
| Col4a1 |
A |
G |
8: 11,290,076 (GRCm39) |
|
probably benign |
Het |
| Cyp4v3 |
T |
A |
8: 45,760,058 (GRCm39) |
E498V |
probably damaging |
Het |
| Dgke |
T |
C |
11: 88,932,327 (GRCm39) |
I488V |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,617,934 (GRCm39) |
D443G |
probably damaging |
Het |
| Edem3 |
T |
G |
1: 151,694,264 (GRCm39) |
S852A |
probably benign |
Het |
| Fbxo8 |
T |
A |
8: 57,041,058 (GRCm39) |
M158K |
probably benign |
Het |
| Galnt15 |
C |
T |
14: 31,774,313 (GRCm39) |
T359M |
possibly damaging |
Het |
| Herc6 |
A |
G |
6: 57,584,130 (GRCm39) |
N330D |
probably benign |
Het |
| Kdf1 |
T |
C |
4: 133,255,468 (GRCm39) |
S62P |
probably damaging |
Het |
| Larp4 |
T |
A |
15: 99,885,302 (GRCm39) |
I51N |
probably damaging |
Het |
| Mfsd6l |
T |
A |
11: 68,447,299 (GRCm39) |
I50N |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,928,679 (GRCm39) |
Y4C |
probably benign |
Het |
| Muc17 |
G |
T |
5: 137,165,971 (GRCm39) |
Y343* |
probably null |
Het |
| Myom2 |
A |
C |
8: 15,164,289 (GRCm39) |
|
probably null |
Het |
| Npat |
A |
T |
9: 53,483,949 (GRCm39) |
|
probably benign |
Het |
| Pcsk2 |
A |
G |
2: 143,635,159 (GRCm39) |
S345G |
probably damaging |
Het |
| Pcyt1a |
A |
G |
16: 32,285,919 (GRCm39) |
T197A |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,784,401 (GRCm39) |
M316V |
probably benign |
Het |
| Plekhs1 |
T |
C |
19: 56,453,031 (GRCm39) |
|
probably null |
Het |
| Sema3e |
G |
T |
5: 14,290,586 (GRCm39) |
R557M |
probably damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,424,008 (GRCm39) |
N154S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,784,706 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spats1 |
A |
T |
17: 45,765,011 (GRCm39) |
|
probably null |
Het |
| Tnfaip6 |
T |
G |
2: 51,945,859 (GRCm39) |
V235G |
probably damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,538 (GRCm39) |
T447S |
probably damaging |
Het |
| Tut1 |
G |
A |
19: 8,936,460 (GRCm39) |
A95T |
probably damaging |
Het |
| Urgcp |
C |
T |
11: 5,666,448 (GRCm39) |
R630Q |
possibly damaging |
Het |
| Vmn1r125 |
G |
T |
7: 21,006,106 (GRCm39) |
M1I |
probably null |
Het |
| Vmn2r99 |
A |
G |
17: 19,599,116 (GRCm39) |
T267A |
probably benign |
Het |
| Wdr5 |
A |
G |
2: 27,410,879 (GRCm39) |
K162E |
probably benign |
Het |
| Zscan26 |
T |
G |
13: 21,629,271 (GRCm39) |
K285Q |
probably damaging |
Het |
|
| Other mutations in Pamr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-08-05 |
Incidental Mutation