Incidental Mutation 'IGL02189:Cfhr2'
| ID |
283760 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cfhr2
|
| Ensembl Gene |
ENSMUSG00000033898 |
| Gene Name |
complement factor H-related 2 |
| Synonyms |
FHR-B |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL02189
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
139738030-139786437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139749497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 162
(Y162H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094489]
[ENSMUST00000194186]
|
| AlphaFold |
A0A668KLU9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094489
AA Change: Y162H
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000092065
Gene: ENSMUSG00000033898
AA Change: Y162H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CCP
|
28 |
81 |
2.7e-7 |
SMART |
|
CCP
|
86 |
146 |
6.35e-4 |
SMART |
|
CCP
|
150 |
203 |
7.57e-11 |
SMART |
|
CCP
|
212 |
266 |
3.7e-14 |
SMART |
|
CCP
|
270 |
331 |
1.16e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194186
AA Change: Y162H
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142033
Gene: ENSMUSG00000033898
AA Change: Y162H
| Domain | Start | End | E-Value | Type |
|---|
|
CCP
|
28 |
81 |
2.7e-7 |
SMART |
|
CCP
|
86 |
146 |
6.35e-4 |
SMART |
|
CCP
|
150 |
203 |
7.57e-11 |
SMART |
|
CCP
|
212 |
266 |
3.7e-14 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
T |
11: 48,838,248 (GRCm39) |
Y780N |
probably benign |
Het |
| Aadacl2 |
T |
C |
3: 59,932,609 (GRCm39) |
S375P |
probably damaging |
Het |
| Abi1 |
A |
C |
2: 22,930,076 (GRCm39) |
M1R |
probably null |
Het |
| Acss1 |
T |
C |
2: 150,471,788 (GRCm39) |
D322G |
probably damaging |
Het |
| Adam22 |
G |
A |
5: 8,380,029 (GRCm39) |
R90W |
possibly damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,648,275 (GRCm39) |
H515R |
probably benign |
Het |
| C3 |
T |
C |
17: 57,527,113 (GRCm39) |
K779E |
probably benign |
Het |
| Chchd5 |
T |
C |
2: 128,975,188 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,321,620 (GRCm39) |
I493F |
probably damaging |
Het |
| Daam1 |
A |
T |
12: 71,993,059 (GRCm39) |
R349S |
unknown |
Het |
| Dnah11 |
T |
C |
12: 118,046,314 (GRCm39) |
E1708G |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,056,085 (GRCm39) |
D1753G |
probably damaging |
Het |
| Flt4 |
T |
G |
11: 49,516,830 (GRCm39) |
C206G |
probably damaging |
Het |
| Fscn1 |
G |
T |
5: 142,946,375 (GRCm39) |
A58S |
possibly damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,618,556 (GRCm39) |
N272K |
probably damaging |
Het |
| Gem |
T |
A |
4: 11,706,121 (GRCm39) |
S70T |
possibly damaging |
Het |
| H2-K2 |
A |
G |
17: 34,218,466 (GRCm39) |
L150P |
probably damaging |
Het |
| Hsd3b3 |
T |
A |
3: 98,649,454 (GRCm39) |
I290L |
probably benign |
Het |
| Iws1 |
A |
G |
18: 32,226,178 (GRCm39) |
R689G |
probably damaging |
Het |
| Klk1b22 |
A |
G |
7: 43,765,630 (GRCm39) |
|
probably null |
Het |
| Klra4 |
T |
A |
6: 130,021,105 (GRCm39) |
D230V |
possibly damaging |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Liat1 |
A |
G |
11: 75,891,056 (GRCm39) |
K57E |
probably damaging |
Het |
| Lilra5 |
A |
T |
7: 4,240,968 (GRCm39) |
M21L |
probably benign |
Het |
| Lrrc20 |
T |
A |
10: 61,362,887 (GRCm39) |
V44D |
possibly damaging |
Het |
| Mtx1 |
T |
G |
3: 89,116,624 (GRCm39) |
M426L |
probably damaging |
Het |
| Mylk2 |
C |
T |
2: 152,757,074 (GRCm39) |
P283L |
probably damaging |
Het |
| Mynn |
T |
A |
3: 30,667,693 (GRCm39) |
|
probably benign |
Het |
| Odr4 |
G |
T |
1: 150,247,784 (GRCm39) |
N356K |
possibly damaging |
Het |
| Or4c1 |
A |
C |
2: 89,133,641 (GRCm39) |
C98W |
probably damaging |
Het |
| Parl |
T |
A |
16: 20,116,453 (GRCm39) |
I116F |
probably damaging |
Het |
| Pdlim3 |
T |
C |
8: 46,338,630 (GRCm39) |
V5A |
probably damaging |
Het |
| Pld1 |
G |
A |
3: 28,174,932 (GRCm39) |
V857I |
probably benign |
Het |
| Ptprf |
T |
A |
4: 118,070,839 (GRCm39) |
|
probably benign |
Het |
| Ptprn |
A |
G |
1: 75,235,139 (GRCm39) |
S170P |
possibly damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rps27a |
C |
A |
11: 29,496,772 (GRCm39) |
Q40H |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,585,183 (GRCm39) |
|
probably benign |
Het |
| Scube3 |
G |
T |
17: 28,381,970 (GRCm39) |
C332F |
probably benign |
Het |
| Sh3glb2 |
T |
C |
2: 30,235,351 (GRCm39) |
|
probably null |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,693 (GRCm39) |
E818G |
probably benign |
Het |
| Slc16a3 |
G |
A |
11: 120,847,597 (GRCm39) |
V262I |
probably benign |
Het |
| Sptbn1 |
T |
A |
11: 30,067,871 (GRCm39) |
D1781V |
probably damaging |
Het |
| Ssr1 |
C |
T |
13: 38,171,492 (GRCm39) |
|
probably null |
Het |
| Tep1 |
A |
G |
14: 51,064,283 (GRCm39) |
L2442S |
probably benign |
Het |
| Tonsl |
A |
T |
15: 76,507,378 (GRCm39) |
V94D |
possibly damaging |
Het |
| Ttc22 |
A |
T |
4: 106,496,354 (GRCm39) |
H468L |
probably benign |
Het |
| Ttc27 |
C |
T |
17: 75,036,894 (GRCm39) |
T189M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,720,500 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
G |
2: 76,590,239 (GRCm39) |
I21157L |
probably damaging |
Het |
| Vav3 |
T |
A |
3: 109,433,276 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Cfhr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Cfhr2
|
APN |
1 |
139,758,970 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01721:Cfhr2
|
APN |
1 |
139,741,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02160:Cfhr2
|
APN |
1 |
139,738,664 (GRCm39) |
missense |
probably benign |
|
|
IGL02802:Cfhr2
|
APN |
1 |
139,738,762 (GRCm39) |
intron |
probably benign |
|
|
PIT4677001:Cfhr2
|
UTSW |
1 |
139,733,117 (GRCm39) |
missense |
unknown |
|
|
R0470:Cfhr2
|
UTSW |
1 |
139,749,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0586:Cfhr2
|
UTSW |
1 |
139,741,172 (GRCm39) |
nonsense |
probably null |
|
|
R1401:Cfhr2
|
UTSW |
1 |
139,738,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1728:Cfhr2
|
UTSW |
1 |
139,741,197 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1728:Cfhr2
|
UTSW |
1 |
139,741,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Cfhr2
|
UTSW |
1 |
139,741,197 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1729:Cfhr2
|
UTSW |
1 |
139,741,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1730:Cfhr2
|
UTSW |
1 |
139,741,197 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1730:Cfhr2
|
UTSW |
1 |
139,741,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Cfhr2
|
UTSW |
1 |
139,741,197 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1739:Cfhr2
|
UTSW |
1 |
139,741,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Cfhr2
|
UTSW |
1 |
139,741,197 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1762:Cfhr2
|
UTSW |
1 |
139,741,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1779:Cfhr2
|
UTSW |
1 |
139,786,383 (GRCm39) |
splice site |
probably null |
|
|
R1783:Cfhr2
|
UTSW |
1 |
139,741,197 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1783:Cfhr2
|
UTSW |
1 |
139,741,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1784:Cfhr2
|
UTSW |
1 |
139,741,197 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1784:Cfhr2
|
UTSW |
1 |
139,741,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Cfhr2
|
UTSW |
1 |
139,741,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Cfhr2
|
UTSW |
1 |
139,741,197 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2130:Cfhr2
|
UTSW |
1 |
139,758,893 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2131:Cfhr2
|
UTSW |
1 |
139,758,893 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2141:Cfhr2
|
UTSW |
1 |
139,758,893 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2142:Cfhr2
|
UTSW |
1 |
139,758,893 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4626:Cfhr2
|
UTSW |
1 |
139,741,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4938:Cfhr2
|
UTSW |
1 |
139,741,265 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5225:Cfhr2
|
UTSW |
1 |
139,749,520 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5578:Cfhr2
|
UTSW |
1 |
139,758,806 (GRCm39) |
nonsense |
probably null |
|
|
R6144:Cfhr2
|
UTSW |
1 |
139,733,153 (GRCm39) |
unclassified |
probably benign |
|
|
R6312:Cfhr2
|
UTSW |
1 |
139,758,817 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6370:Cfhr2
|
UTSW |
1 |
139,750,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6587:Cfhr2
|
UTSW |
1 |
139,738,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7028:Cfhr2
|
UTSW |
1 |
139,758,801 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7051:Cfhr2
|
UTSW |
1 |
139,738,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7162:Cfhr2
|
UTSW |
1 |
139,741,264 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7166:Cfhr2
|
UTSW |
1 |
139,758,839 (GRCm39) |
nonsense |
probably null |
|
|
R7503:Cfhr2
|
UTSW |
1 |
139,758,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7752:Cfhr2
|
UTSW |
1 |
139,741,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Cfhr2
|
UTSW |
1 |
139,738,696 (GRCm39) |
missense |
probably benign |
|
|
R8498:Cfhr2
|
UTSW |
1 |
139,741,219 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8735:Cfhr2
|
UTSW |
1 |
139,786,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8942:Cfhr2
|
UTSW |
1 |
139,741,292 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9642:Cfhr2
|
UTSW |
1 |
139,738,620 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation