Incidental Mutation 'R6587:Cfhr2'
ID |
524451 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfhr2
|
Ensembl Gene |
ENSMUSG00000033898 |
Gene Name |
complement factor H-related 2 |
Synonyms |
FHR-B |
MMRRC Submission |
044711-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R6587 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
139738030-139786437 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 139738596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 322
(I322F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092065
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094489]
[ENSMUST00000194186]
|
AlphaFold |
A0A668KLU9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094489
AA Change: I322F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000092065 Gene: ENSMUSG00000033898 AA Change: I322F
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 benign
Transcript: ENSMUST00000194186
|
SMART Domains |
Protein: ENSMUSP00000142033 Gene: ENSMUSG00000033898
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: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc2 |
TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG |
TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG |
2: 25,162,550 (GRCm39) |
|
probably benign |
Het |
Ank3 |
G |
T |
10: 69,825,982 (GRCm39) |
|
probably benign |
Het |
Ano3 |
C |
A |
2: 110,628,249 (GRCm39) |
|
probably null |
Het |
Arhgap39 |
A |
G |
15: 76,621,699 (GRCm39) |
S301P |
probably damaging |
Het |
Atad2 |
G |
T |
15: 57,984,444 (GRCm39) |
Q295K |
probably benign |
Het |
Camkmt |
T |
C |
17: 85,421,243 (GRCm39) |
V115A |
possibly damaging |
Het |
Cenpf |
T |
C |
1: 189,390,571 (GRCm39) |
E1087G |
probably damaging |
Het |
Chil6 |
T |
C |
3: 106,312,197 (GRCm39) |
M35V |
probably benign |
Het |
Cyp3a44 |
T |
C |
5: 145,742,569 (GRCm39) |
T11A |
probably benign |
Het |
Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
Ghitm |
A |
T |
14: 36,847,146 (GRCm39) |
Y309* |
probably null |
Het |
Klhl18 |
T |
C |
9: 110,284,494 (GRCm39) |
H64R |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,860,704 (GRCm39) |
K201R |
probably benign |
Het |
Lpar3 |
T |
C |
3: 145,946,918 (GRCm39) |
F199L |
probably damaging |
Het |
Mindy3 |
G |
A |
2: 12,352,927 (GRCm39) |
Q425* |
probably null |
Het |
Or5b114-ps1 |
A |
T |
19: 13,352,977 (GRCm39) |
Y217F |
unknown |
Het |
P2rx7 |
A |
C |
5: 122,802,613 (GRCm39) |
N207T |
probably damaging |
Het |
Pcdhb7 |
T |
G |
18: 37,477,156 (GRCm39) |
L764R |
probably benign |
Het |
Pgap6 |
G |
A |
17: 26,340,538 (GRCm39) |
V641I |
probably benign |
Het |
Sbf2 |
T |
C |
7: 110,040,182 (GRCm39) |
Y378C |
probably damaging |
Het |
Slc23a2 |
C |
T |
2: 131,920,401 (GRCm39) |
S168N |
possibly damaging |
Het |
Tmem260 |
A |
G |
14: 48,733,913 (GRCm39) |
|
probably null |
Het |
Tmprss15 |
T |
G |
16: 78,868,317 (GRCm39) |
L198F |
probably benign |
Het |
Tulp4 |
C |
T |
17: 6,282,146 (GRCm39) |
T725I |
possibly damaging |
Het |
Tut4 |
C |
A |
4: 108,336,646 (GRCm39) |
N123K |
probably benign |
Het |
Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zp3 |
A |
G |
5: 136,016,352 (GRCm39) |
D318G |
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 |
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 |
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 |
PCR Primer
(F):5'- CCAGGAAATTCTGAGAAAGTTCTG -3'
(R):5'- ACCCAAATTGGTCTATAGATATGGG -3'
Sequencing Primer
(F):5'- ACAGATGTTGAAGAACTTACATCTAC -3'
(R):5'- AATTTGGTAATTTTTCCTTCAGATGC -3'
|
Posted On |
2018-06-22 |