Incidental Mutation 'R0470:Cfhr2'
| ID |
41778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfhr2
|
| Ensembl Gene |
ENSMUSG00000033898 |
| Gene Name |
complement factor H-related 2 |
| Synonyms |
FHR-B |
| MMRRC Submission |
038670-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R0470 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
139738030-139786437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 139749517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 155
(V155E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094489]
[ENSMUST00000194186]
|
| AlphaFold |
A0A668KLU9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094489
AA Change: V155E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092065
Gene: ENSMUSG00000033898
AA Change: V155E
| 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: V155E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142033
Gene: ENSMUSG00000033898
AA Change: V155E
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.0%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
G |
19: 8,986,331 (GRCm39) |
D2538E |
probably benign |
Het |
| Akr1c13 |
T |
A |
13: 4,248,500 (GRCm39) |
L235H |
probably damaging |
Het |
| Ank |
G |
A |
15: 27,571,721 (GRCm39) |
C331Y |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,293,129 (GRCm39) |
E768G |
probably benign |
Het |
| Atm |
A |
T |
9: 53,372,266 (GRCm39) |
V2172E |
probably damaging |
Het |
| Atp10b |
T |
A |
11: 43,093,866 (GRCm39) |
L470Q |
possibly damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Ccn4 |
A |
G |
15: 66,789,227 (GRCm39) |
I238V |
probably benign |
Het |
| Cdadc1 |
A |
T |
14: 59,811,290 (GRCm39) |
|
probably benign |
Het |
| Chp1 |
C |
T |
2: 119,391,244 (GRCm39) |
R34C |
probably damaging |
Het |
| Cilp2 |
A |
T |
8: 70,338,055 (GRCm39) |
V192E |
possibly damaging |
Het |
| Cyth1 |
T |
C |
11: 118,023,074 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,927,514 (GRCm39) |
|
probably benign |
Het |
| Gja3 |
T |
C |
14: 57,273,884 (GRCm39) |
T163A |
probably damaging |
Het |
| Gsdmcl1 |
C |
T |
15: 63,722,280 (GRCm39) |
|
noncoding transcript |
Het |
| Herc6 |
C |
T |
6: 57,596,437 (GRCm39) |
T459M |
probably damaging |
Het |
| Hexb |
A |
G |
13: 97,314,507 (GRCm39) |
L412P |
probably damaging |
Het |
| Il17ra |
T |
G |
6: 120,458,767 (GRCm39) |
D639E |
probably benign |
Het |
| Kcnh5 |
G |
A |
12: 75,161,188 (GRCm39) |
T240I |
probably benign |
Het |
| Lef1 |
T |
C |
3: 130,906,475 (GRCm39) |
|
probably benign |
Het |
| Lilrb4a |
T |
A |
10: 51,370,923 (GRCm39) |
N282K |
possibly damaging |
Het |
| Mbnl2 |
A |
T |
14: 120,642,062 (GRCm39) |
H342L |
probably damaging |
Het |
| Minar2 |
C |
T |
18: 59,208,711 (GRCm39) |
R120C |
probably damaging |
Het |
| Nipal3 |
A |
G |
4: 135,174,683 (GRCm39) |
V356A |
probably damaging |
Het |
| Or2a54 |
C |
G |
6: 43,093,558 (GRCm39) |
A294G |
probably null |
Het |
| Or51i1 |
A |
T |
7: 103,670,877 (GRCm39) |
I216N |
probably damaging |
Het |
| Plekha6 |
G |
A |
1: 133,200,045 (GRCm39) |
R208Q |
probably benign |
Het |
| Prkar1b |
A |
G |
5: 139,036,504 (GRCm39) |
I82T |
probably damaging |
Het |
| Prrc1 |
C |
T |
18: 57,496,469 (GRCm39) |
T140M |
probably damaging |
Het |
| Psg22 |
A |
C |
7: 18,453,589 (GRCm39) |
S95R |
probably damaging |
Het |
| Ptk6 |
T |
C |
2: 180,837,732 (GRCm39) |
T396A |
probably benign |
Het |
| Ptov1 |
A |
G |
7: 44,514,235 (GRCm39) |
S9P |
probably damaging |
Het |
| Scin |
A |
C |
12: 40,123,291 (GRCm39) |
|
probably benign |
Het |
| Sec13 |
T |
C |
6: 113,717,593 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
G |
A |
7: 127,384,229 (GRCm39) |
|
probably benign |
Het |
| Sf3a2 |
G |
A |
10: 80,640,388 (GRCm39) |
|
probably benign |
Het |
| Shmt1 |
T |
C |
11: 60,683,789 (GRCm39) |
Y341C |
possibly damaging |
Het |
| Slc27a4 |
T |
A |
2: 29,694,197 (GRCm39) |
L7Q |
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,152,086 (GRCm39) |
M130V |
possibly damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,785,956 (GRCm39) |
|
probably null |
Het |
| Tex24 |
C |
T |
8: 27,834,936 (GRCm39) |
R155* |
probably null |
Het |
| Tgfb1 |
T |
A |
7: 25,387,355 (GRCm39) |
|
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,239,154 (GRCm39) |
D349G |
possibly damaging |
Het |
| Trappc13 |
C |
T |
13: 104,297,512 (GRCm39) |
V131I |
possibly damaging |
Het |
| Trim66 |
A |
G |
7: 109,056,749 (GRCm39) |
|
probably benign |
Het |
| Tspoap1 |
T |
C |
11: 87,666,988 (GRCm39) |
S1027P |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,386,001 (GRCm39) |
H2143Y |
possibly damaging |
Het |
| Vmn1r179 |
A |
C |
7: 23,627,818 (GRCm39) |
Y3S |
probably benign |
Het |
| Vmn1r231 |
G |
A |
17: 21,110,265 (GRCm39) |
Q217* |
probably null |
Het |
| Vmn1r62 |
T |
A |
7: 5,679,066 (GRCm39) |
L249* |
probably null |
Het |
| Vmn1r71 |
G |
C |
7: 10,482,019 (GRCm39) |
S223C |
possibly damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,773,148 (GRCm39) |
Q491R |
probably benign |
Het |
| Vwf |
G |
A |
6: 125,605,391 (GRCm39) |
V925M |
possibly damaging |
Het |
| Zbtb6 |
A |
C |
2: 37,319,505 (GRCm39) |
L141W |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,584,500 (GRCm39) |
L615F |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCACAGTTAATACAGAAGGGACAG -3'
(R):5'- ACACACAATAGGGACTATGGAAATGCC -3'
Sequencing Primer
(F):5'- TCATGAGAAACTTGTGATGTAAGG -3'
(R):5'- GGGACTATGGAAATGCCTTTATC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation