Incidental Mutation 'R6286:Pamr1'
| ID |
508218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pamr1
|
| Ensembl Gene |
ENSMUSG00000027188 |
| Gene Name |
peptidase domain containing associated with muscle regeneration 1 |
| Synonyms |
E430002G05Rik, RAMP |
| MMRRC Submission |
044456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R6286 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
102380357-102473386 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 102471293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 539
(Q539*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028612]
|
| AlphaFold |
Q8BU25 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028612
AA Change: Q539*
|
| SMART Domains |
Protein: ENSMUSP00000028612
Gene: ENSMUSG00000027188
AA Change: Q539*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
A |
17: 72,187,842 (GRCm39) |
M1300L |
probably damaging |
Het |
| C3 |
A |
T |
17: 57,531,118 (GRCm39) |
I356N |
probably damaging |
Het |
| Cntnap5b |
T |
A |
1: 100,182,798 (GRCm39) |
S276T |
possibly damaging |
Het |
| Cts7 |
C |
T |
13: 61,500,584 (GRCm39) |
G321E |
probably damaging |
Het |
| Cyp11a1 |
G |
A |
9: 57,924,701 (GRCm39) |
|
probably benign |
Het |
| Ddx4 |
T |
C |
13: 112,750,269 (GRCm39) |
T421A |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,078,049 (GRCm39) |
T694A |
probably damaging |
Het |
| Eif3b |
G |
T |
5: 140,405,566 (GRCm39) |
D151Y |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,648,209 (GRCm39) |
E219V |
probably damaging |
Het |
| Gdf2 |
C |
T |
14: 33,667,057 (GRCm39) |
R260C |
probably damaging |
Het |
| Gm14295 |
T |
C |
2: 176,501,361 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Gm45861 |
A |
G |
8: 28,019,619 (GRCm39) |
T745A |
unknown |
Het |
| Grin2a |
G |
A |
16: 9,579,639 (GRCm39) |
T208I |
possibly damaging |
Het |
| Ide |
T |
A |
19: 37,255,409 (GRCm39) |
Y798F |
unknown |
Het |
| Llgl1 |
G |
A |
11: 60,600,358 (GRCm39) |
G569D |
probably damaging |
Het |
| Mrpl9 |
G |
C |
3: 94,351,097 (GRCm39) |
E92D |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,555,685 (GRCm39) |
H3536L |
unknown |
Het |
| Nasp |
T |
C |
4: 116,461,985 (GRCm39) |
Y526C |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,986,728 (GRCm39) |
N404D |
probably damaging |
Het |
| Nsrp1 |
A |
G |
11: 76,940,269 (GRCm39) |
I112T |
probably damaging |
Het |
| Or6c7 |
T |
C |
10: 129,323,497 (GRCm39) |
L206P |
probably damaging |
Het |
| Or8b8 |
A |
T |
9: 37,809,074 (GRCm39) |
I125F |
probably damaging |
Het |
| Oxsr1 |
A |
G |
9: 119,093,948 (GRCm39) |
V235A |
probably damaging |
Het |
| Pramel20 |
T |
A |
4: 143,297,796 (GRCm39) |
V72D |
probably benign |
Het |
| Ptpn4 |
A |
G |
1: 119,649,592 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
C |
T |
10: 58,315,394 (GRCm39) |
A2038V |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Septin5 |
A |
G |
16: 18,442,127 (GRCm39) |
V253A |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,291,359 (GRCm39) |
L993P |
probably damaging |
Het |
| Slc22a13 |
C |
A |
9: 119,037,778 (GRCm39) |
E117* |
probably null |
Het |
| Slc9c1 |
T |
C |
16: 45,398,194 (GRCm39) |
I653T |
probably benign |
Het |
| Slco6c1 |
T |
A |
1: 97,053,445 (GRCm39) |
H152L |
possibly damaging |
Het |
| Sp2 |
A |
C |
11: 96,852,372 (GRCm39) |
V184G |
probably benign |
Het |
| Taok1 |
T |
A |
11: 77,444,599 (GRCm39) |
H492L |
probably benign |
Het |
| Tas2r110 |
G |
A |
6: 132,845,490 (GRCm39) |
D174N |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,896,426 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,581,321 (GRCm39) |
R21445* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,605,967 (GRCm39) |
Y16502H |
probably damaging |
Het |
| Vmn2r84 |
A |
C |
10: 130,226,737 (GRCm39) |
M367R |
possibly damaging |
Het |
| Zfp46 |
T |
C |
4: 136,018,320 (GRCm39) |
S385P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATGGTGGTCTGCACAAAG -3'
(R):5'- GGTGAATGACTTTTGAGGACTAC -3'
Sequencing Primer
(F):5'- CACAAAGGTGCATGGTTCTTG -3'
(R):5'- TTTTCAAAACAAACAGAGGTGTGG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation