Incidental Mutation 'R7752:Cfhr2'
| ID |
597274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfhr2
|
| Ensembl Gene |
ENSMUSG00000033898 |
| Gene Name |
complement factor H-related 2 |
| Synonyms |
FHR-B |
| MMRRC Submission |
045808-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R7752 (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 139741322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 218
(I218F)
|
| 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: I218F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092065
Gene: ENSMUSG00000033898
AA Change: I218F
| 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
AA Change: I218F
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000142033
Gene: ENSMUSG00000033898
AA Change: I218F
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg2 |
A |
T |
5: 137,665,966 (GRCm39) |
F98I |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,327,006 (GRCm39) |
N668K |
possibly damaging |
Het |
| Aox4 |
G |
A |
1: 58,293,107 (GRCm39) |
V868I |
not run |
Het |
| Ccdc39 |
T |
C |
3: 33,886,766 (GRCm39) |
R281G |
possibly damaging |
Het |
| Ccnt1 |
A |
T |
15: 98,441,797 (GRCm39) |
D490E |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,296,936 (GRCm39) |
K234R |
probably benign |
Het |
| Col4a2 |
A |
T |
8: 11,479,358 (GRCm39) |
D747V |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,299,190 (GRCm39) |
E3126G |
unknown |
Het |
| Csf1r |
T |
A |
18: 61,243,368 (GRCm39) |
L128Q |
probably damaging |
Het |
| Dcp1b |
G |
T |
6: 119,152,318 (GRCm39) |
R22L |
possibly damaging |
Het |
| Ddx6 |
T |
G |
9: 44,538,960 (GRCm39) |
F256C |
probably damaging |
Het |
| Diras1 |
C |
T |
10: 80,857,895 (GRCm39) |
V119M |
probably damaging |
Het |
| Ect2l |
T |
A |
10: 18,017,712 (GRCm39) |
D681V |
possibly damaging |
Het |
| Eme1 |
G |
T |
11: 94,541,645 (GRCm39) |
P59Q |
probably damaging |
Het |
| Farp1 |
G |
C |
14: 121,495,359 (GRCm39) |
E605Q |
probably damaging |
Het |
| Frem1 |
G |
T |
4: 82,877,614 (GRCm39) |
T1321K |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,753,627 (GRCm39) |
L2326Q |
probably damaging |
Het |
| Gpld1 |
T |
A |
13: 25,146,758 (GRCm39) |
V240E |
probably damaging |
Het |
| Gpr4 |
C |
A |
7: 18,956,340 (GRCm39) |
H87Q |
probably damaging |
Het |
| Ifi213 |
A |
T |
1: 173,394,784 (GRCm39) |
S584T |
probably benign |
Het |
| Il36b |
C |
T |
2: 24,048,826 (GRCm39) |
T77M |
possibly damaging |
Het |
| Inf2 |
A |
G |
12: 112,576,118 (GRCm39) |
E865G |
unknown |
Het |
| Klk1b1 |
T |
C |
7: 43,620,669 (GRCm39) |
I253T |
probably damaging |
Het |
| Lcmt1 |
G |
T |
7: 122,969,030 (GRCm39) |
M8I |
unknown |
Het |
| Mrs2 |
T |
A |
13: 25,202,549 (GRCm39) |
D64V |
possibly damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,079,224 (GRCm39) |
I148T |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,589,108 (GRCm39) |
Y755C |
|
Het |
| Ncoa3 |
T |
A |
2: 165,907,688 (GRCm39) |
L1099* |
probably null |
Het |
| Nlrp6 |
T |
C |
7: 140,507,353 (GRCm39) |
V873A |
possibly damaging |
Het |
| Nup155 |
C |
T |
15: 8,145,926 (GRCm39) |
P159L |
possibly damaging |
Het |
| Or10v1 |
A |
T |
19: 11,873,898 (GRCm39) |
H171L |
probably benign |
Het |
| Or1ak2 |
A |
T |
2: 36,827,630 (GRCm39) |
L166F |
probably damaging |
Het |
| Or4m1 |
A |
T |
14: 50,557,573 (GRCm39) |
S240T |
probably damaging |
Het |
| Pex5 |
A |
G |
6: 124,380,860 (GRCm39) |
S255P |
probably damaging |
Het |
| Pex5 |
T |
C |
6: 124,390,977 (GRCm39) |
T58A |
probably benign |
Het |
| Phip |
T |
G |
9: 82,772,203 (GRCm39) |
M1115L |
probably benign |
Het |
| Ppl |
T |
G |
16: 4,920,166 (GRCm39) |
S410R |
probably benign |
Het |
| Ppp1r17 |
G |
A |
6: 55,999,441 (GRCm39) |
D25N |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,142,769 (GRCm39) |
E478G |
probably damaging |
Het |
| Prox2 |
T |
A |
12: 85,134,815 (GRCm39) |
I489F |
probably damaging |
Het |
| Ptprb |
C |
G |
10: 116,205,333 (GRCm39) |
P1896A |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,154,799 (GRCm39) |
L601P |
possibly damaging |
Het |
| Sash1 |
C |
T |
10: 8,656,328 (GRCm39) |
W221* |
probably null |
Het |
| Skint1 |
A |
C |
4: 111,876,399 (GRCm39) |
T107P |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,091,905 (GRCm39) |
S453P |
possibly damaging |
Het |
| Sox11 |
A |
T |
12: 27,391,439 (GRCm39) |
N323K |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Thbd |
C |
A |
2: 148,248,894 (GRCm39) |
V325L |
probably damaging |
Het |
| Tmco5 |
T |
C |
2: 116,722,743 (GRCm39) |
F288S |
probably damaging |
Het |
| Traj16 |
T |
C |
14: 54,440,645 (GRCm39) |
Y19H |
unknown |
Het |
| Trip11 |
A |
G |
12: 101,853,233 (GRCm39) |
V454A |
probably benign |
Het |
| Tsg101 |
G |
T |
7: 46,563,183 (GRCm39) |
Q24K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,555,370 (GRCm39) |
E30545G |
probably damaging |
Het |
| Unkl |
T |
C |
17: 25,437,627 (GRCm39) |
S200P |
probably damaging |
Het |
| Vwa2 |
T |
A |
19: 56,897,672 (GRCm39) |
I659N |
probably damaging |
Het |
| Wipf3 |
A |
G |
6: 54,458,896 (GRCm39) |
I84V |
probably benign |
Het |
| Zfp592 |
T |
G |
7: 80,674,469 (GRCm39) |
S478A |
probably benign |
Het |
| Zfp664 |
A |
T |
5: 124,962,839 (GRCm39) |
K78* |
probably null |
Het |
| Zfp738 |
A |
T |
13: 67,821,110 (GRCm39) |
L79* |
probably null |
Het |
| Zfyve28 |
C |
T |
5: 34,382,326 (GRCm39) |
R258Q |
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 |
|
|
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 |
|
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'- ATCACATGCTAATGTTTTGCACTGG -3'
(R):5'- GAAGGAAGAACTTGCAACTCTG -3'
Sequencing Primer
(F):5'- GCTAATGTTTTGCACTGGAGAAC -3'
(R):5'- GAAGAACTTGCAACTCTGTTTATATG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation