Incidental Mutation 'R1068:Pamr1'
ID |
86074 |
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 |
039154-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R1068 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
102380357-102473386 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 102472590 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 630
(C630S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028612
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028612]
|
AlphaFold |
Q8BU25 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028612
AA Change: C630S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028612 Gene: ENSMUSG00000027188 AA Change: C630S
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 |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930546C10Rik |
A |
T |
18: 69,083,139 (GRCm39) |
V25E |
unknown |
Het |
Acsm4 |
C |
A |
7: 119,307,933 (GRCm39) |
Q357K |
probably benign |
Het |
Adam11 |
T |
G |
11: 102,667,204 (GRCm39) |
L619R |
probably damaging |
Het |
Ccne2 |
A |
G |
4: 11,192,850 (GRCm39) |
N17S |
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,829,830 (GRCm39) |
H313R |
probably benign |
Het |
Chsy3 |
A |
T |
18: 59,543,361 (GRCm39) |
H833L |
probably damaging |
Het |
Csnk1a1 |
G |
T |
18: 61,702,634 (GRCm39) |
|
probably null |
Het |
Cyp2c40 |
T |
C |
19: 39,801,025 (GRCm39) |
K77E |
possibly damaging |
Het |
Dmtf1 |
T |
C |
5: 9,186,109 (GRCm39) |
E159G |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,881,330 (GRCm39) |
V3181I |
probably benign |
Het |
Gab1 |
T |
C |
8: 81,526,801 (GRCm39) |
D99G |
possibly damaging |
Het |
Garem1 |
T |
C |
18: 21,301,812 (GRCm39) |
E125G |
probably benign |
Het |
Kcnf1 |
A |
G |
12: 17,225,475 (GRCm39) |
Y249H |
probably damaging |
Het |
Kit |
C |
T |
5: 75,770,178 (GRCm39) |
H197Y |
probably benign |
Het |
Memo1 |
T |
A |
17: 74,532,550 (GRCm39) |
I153F |
probably damaging |
Het |
Myh7 |
T |
A |
14: 55,224,776 (GRCm39) |
N597I |
possibly damaging |
Het |
Nop2 |
A |
G |
6: 125,109,242 (GRCm39) |
K23E |
probably damaging |
Het |
Nxf1 |
T |
A |
19: 8,740,118 (GRCm39) |
V95E |
probably damaging |
Het |
Ptprh |
G |
T |
7: 4,552,462 (GRCm39) |
P934Q |
possibly damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,837,095 (GRCm39) |
|
probably null |
Het |
Ralyl |
T |
A |
3: 13,841,949 (GRCm39) |
N28K |
probably damaging |
Het |
Rasgrp1 |
A |
G |
2: 117,113,057 (GRCm39) |
V785A |
probably benign |
Het |
Rpp30 |
T |
A |
19: 36,061,138 (GRCm39) |
M1K |
probably null |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Snx19 |
G |
A |
9: 30,340,314 (GRCm39) |
R484Q |
probably damaging |
Het |
Speer4a1 |
A |
T |
5: 26,241,024 (GRCm39) |
L156Q |
probably null |
Het |
St18 |
A |
G |
1: 6,865,786 (GRCm39) |
D88G |
probably benign |
Het |
Syt7 |
T |
C |
19: 10,421,375 (GRCm39) |
Y520H |
probably benign |
Het |
Taf7l2 |
C |
T |
10: 115,949,359 (GRCm39) |
V56I |
probably damaging |
Het |
Tle4 |
C |
G |
19: 14,429,543 (GRCm39) |
W674C |
probably damaging |
Het |
Tnik |
T |
A |
3: 28,587,124 (GRCm39) |
Y132N |
probably damaging |
Het |
Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
Vps11 |
A |
T |
9: 44,264,316 (GRCm39) |
L719Q |
probably damaging |
Het |
Zc3h4 |
T |
G |
7: 16,163,161 (GRCm39) |
H520Q |
unknown |
Het |
Zdbf2 |
C |
T |
1: 63,342,589 (GRCm39) |
R323C |
possibly damaging |
Het |
Zfp616 |
T |
A |
11: 73,973,767 (GRCm39) |
*99K |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGCTTGACACTGACATCGC -3'
(R):5'- CAATCCAGTCTTTGAACGGCAACAC -3'
Sequencing Primer
(F):5'- ACTGACATCGCTGTTCTGAAG -3'
(R):5'- TGAACGGCAACACCTTTGTG -3'
|
Posted On |
2013-11-18 |