Incidental Mutation 'R1127:Pamr1'
ID |
96260 |
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 |
039200-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R1127 (G1)
|
Quality Score |
158 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
102380357-102473386 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 102469698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 415
(I415F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028612
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028612]
|
AlphaFold |
Q8BU25 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028612
AA Change: I415F
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000028612 Gene: ENSMUSG00000027188 AA Change: I415F
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 |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.1%
- 20x: 80.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
C |
15: 79,019,403 (GRCm39) |
D179G |
probably benign |
Het |
Aadacl2fm2 |
G |
A |
3: 59,659,314 (GRCm39) |
E256K |
probably benign |
Het |
Adh7 |
C |
T |
3: 137,927,490 (GRCm39) |
A12V |
probably benign |
Het |
Ankhd1 |
T |
A |
18: 36,767,399 (GRCm39) |
N1179K |
probably damaging |
Het |
Ankrd50 |
T |
C |
3: 38,511,336 (GRCm39) |
T344A |
probably benign |
Het |
Aplf |
T |
C |
6: 87,623,273 (GRCm39) |
T269A |
probably benign |
Het |
Cavin4 |
T |
C |
4: 48,663,637 (GRCm39) |
S6P |
probably damaging |
Het |
Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
Cyp2c66 |
A |
T |
19: 39,151,812 (GRCm39) |
N176Y |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,522,253 (GRCm39) |
D3980V |
probably damaging |
Het |
Drc7 |
G |
T |
8: 95,799,416 (GRCm39) |
E530D |
probably damaging |
Het |
Dst |
A |
G |
1: 34,314,358 (GRCm39) |
T6434A |
probably damaging |
Het |
Dtx3l |
A |
G |
16: 35,759,127 (GRCm39) |
S41P |
possibly damaging |
Het |
Eef1b2 |
G |
A |
1: 63,218,616 (GRCm39) |
|
probably null |
Het |
Eml3 |
C |
T |
19: 8,913,672 (GRCm39) |
T43I |
probably damaging |
Het |
Fam110b |
T |
A |
4: 5,799,434 (GRCm39) |
L284Q |
probably damaging |
Het |
Gpr33 |
A |
C |
12: 52,070,252 (GRCm39) |
H262Q |
probably damaging |
Het |
Igfals |
T |
G |
17: 25,099,455 (GRCm39) |
L182R |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,126,205 (GRCm39) |
F496L |
possibly damaging |
Het |
Muc4 |
T |
A |
16: 32,569,343 (GRCm39) |
H134Q |
possibly damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Nxn |
A |
T |
11: 76,164,895 (GRCm39) |
C205* |
probably null |
Het |
Oga |
G |
A |
19: 45,740,594 (GRCm39) |
R914* |
probably null |
Het |
Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
Or52h9 |
C |
A |
7: 104,202,293 (GRCm39) |
H56N |
possibly damaging |
Het |
Ppp4r4 |
G |
A |
12: 103,545,327 (GRCm39) |
G200E |
probably damaging |
Het |
Pramel29 |
G |
A |
4: 143,933,694 (GRCm39) |
T471I |
probably damaging |
Het |
Prdm16 |
C |
A |
4: 154,613,256 (GRCm39) |
S57I |
probably damaging |
Het |
Psmd11 |
A |
G |
11: 80,362,410 (GRCm39) |
K157R |
possibly damaging |
Het |
Ptprn2 |
G |
A |
12: 117,175,628 (GRCm39) |
|
probably null |
Het |
Pus7 |
G |
A |
5: 23,973,793 (GRCm39) |
H234Y |
probably benign |
Het |
Rd3l |
A |
G |
12: 111,946,717 (GRCm39) |
Y20H |
probably benign |
Het |
Stk31 |
A |
G |
6: 49,386,141 (GRCm39) |
D160G |
probably damaging |
Het |
Sycp2 |
C |
T |
2: 178,016,159 (GRCm39) |
E768K |
possibly damaging |
Het |
Tango6 |
T |
C |
8: 107,415,527 (GRCm39) |
V116A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,697,574 (GRCm39) |
|
probably benign |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Xylb |
T |
C |
9: 119,212,443 (GRCm39) |
I427T |
probably damaging |
Het |
Zc3h7a |
T |
G |
16: 10,956,939 (GRCm39) |
D890A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGAACTGGATGCTAAAGTCTTGC -3'
(R):5'- ATCGATGGGAGAAAATCCCCTTGC -3'
Sequencing Primer
(F):5'- AACTGGATGCTAAAGTCTTGCTTTTG -3'
(R):5'- GGAGAAAATCCCCTTGCTCAATTAAG -3'
|
Posted On |
2014-01-05 |