Incidental Mutation 'R5578:Cfhr2'
| ID |
457966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfhr2
|
| Ensembl Gene |
ENSMUSG00000033898 |
| Gene Name |
complement factor H-related 2 |
| Synonyms |
FHR-B |
| MMRRC Submission |
043133-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5578 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
139738030-139786437 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 139758806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 81
(C81*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094489]
[ENSMUST00000194186]
|
| AlphaFold |
A0A668KLU9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094489
AA Change: C81*
|
| SMART Domains |
Protein: ENSMUSP00000092065
Gene: ENSMUSG00000033898
AA Change: C81*
| 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 null
Transcript: ENSMUST00000194186
AA Change: C81*
|
| SMART Domains |
Protein: ENSMUSP00000142033
Gene: ENSMUSG00000033898
AA Change: C81*
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,926,932 (GRCm39) |
S521P |
probably benign |
Het |
| Aqp11 |
A |
G |
7: 97,386,665 (GRCm39) |
F177S |
probably damaging |
Het |
| Arhgap40 |
G |
T |
2: 158,373,126 (GRCm39) |
G128V |
probably damaging |
Het |
| Aspm |
A |
T |
1: 139,398,455 (GRCm39) |
K1011I |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,722,203 (GRCm39) |
T89A |
probably benign |
Het |
| Cep89 |
ACTCCTCCTCCTCCTCCTCCTCCTC |
ACTCCTCCTCCTCCTCCTCCTC |
7: 35,109,067 (GRCm39) |
|
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,847,149 (GRCm39) |
T1631A |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,638,196 (GRCm39) |
D22V |
probably benign |
Het |
| Csnk2a1-ps3 |
A |
G |
1: 156,352,800 (GRCm39) |
M334V |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp39a1 |
T |
A |
17: 43,991,031 (GRCm39) |
N113K |
possibly damaging |
Het |
| Dnah11 |
A |
T |
12: 117,982,537 (GRCm39) |
V2544D |
probably damaging |
Het |
| Dnai3 |
A |
T |
3: 145,802,983 (GRCm39) |
Y69* |
probably null |
Het |
| Esr1 |
A |
C |
10: 4,919,164 (GRCm39) |
Q418P |
probably damaging |
Het |
| Fam89a |
T |
A |
8: 125,467,968 (GRCm39) |
K115* |
probably null |
Het |
| Fstl4 |
T |
A |
11: 53,056,608 (GRCm39) |
V455D |
probably damaging |
Het |
| Gm20730 |
T |
A |
6: 43,058,474 (GRCm39) |
M113L |
probably benign |
Het |
| H2ac21 |
T |
C |
3: 96,127,554 (GRCm39) |
V108A |
probably damaging |
Het |
| Hk3 |
C |
T |
13: 55,159,994 (GRCm39) |
V327M |
probably damaging |
Het |
| Itm2c |
T |
A |
1: 85,830,774 (GRCm39) |
V57E |
possibly damaging |
Het |
| Lrba |
T |
C |
3: 86,664,814 (GRCm39) |
Y565H |
probably benign |
Het |
| Mab21l1 |
C |
T |
3: 55,691,435 (GRCm39) |
Q341* |
probably null |
Het |
| Mdm2 |
C |
T |
10: 117,538,192 (GRCm39) |
E69K |
possibly damaging |
Het |
| Mdn1 |
A |
T |
4: 32,728,167 (GRCm39) |
I2709F |
probably benign |
Het |
| Mpp7 |
T |
C |
18: 7,355,101 (GRCm39) |
N442D |
probably benign |
Het |
| Ncoa3 |
A |
G |
2: 165,896,248 (GRCm39) |
I384V |
probably benign |
Het |
| Pm20d1 |
A |
G |
1: 131,743,760 (GRCm39) |
N475S |
probably benign |
Het |
| Rhpn2 |
A |
G |
7: 35,070,135 (GRCm39) |
D131G |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,155,847 (GRCm39) |
Y193F |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 141,598,880 (GRCm39) |
K182* |
probably null |
Het |
| Slx4 |
T |
A |
16: 3,804,726 (GRCm39) |
E696V |
probably damaging |
Het |
| Smyd4 |
C |
T |
11: 75,295,602 (GRCm39) |
P753S |
probably benign |
Het |
| Stambp |
T |
G |
6: 83,538,782 (GRCm39) |
D206A |
probably benign |
Het |
| Sult5a1 |
G |
T |
8: 123,869,860 (GRCm39) |
Y262* |
probably null |
Het |
| Taar1 |
A |
T |
10: 23,796,718 (GRCm39) |
I139F |
possibly damaging |
Het |
| Tchh |
A |
T |
3: 93,351,618 (GRCm39) |
R353* |
probably null |
Het |
| Thnsl2 |
C |
T |
6: 71,115,749 (GRCm39) |
V153I |
probably benign |
Het |
| Trmt5 |
C |
T |
12: 73,331,837 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
T |
A |
1: 14,957,232 (GRCm39) |
Y728F |
probably damaging |
Het |
| Usp19 |
T |
C |
9: 108,370,639 (GRCm39) |
V126A |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,839,622 (GRCm39) |
V1974A |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,829,514 (GRCm39) |
H461L |
probably benign |
Het |
| Zfp445 |
T |
C |
9: 122,682,402 (GRCm39) |
Y513C |
probably benign |
Het |
| Zfp84 |
A |
C |
7: 29,474,856 (GRCm39) |
M43L |
possibly damaging |
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 |
|
|
IGL02189:Cfhr2
|
APN |
1 |
139,749,497 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-02-16 |
Incidental Mutation