Incidental Mutation 'PIT4677001:Cfhr2'
| ID |
556537 |
| Institutional Source |
Beutler Lab
|
| 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: 0.056)
|
| Stock # |
PIT4677001 (G1)
|
| Quality Score |
209.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
139738030-139786437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 139733117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 301
(S301R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094489]
[ENSMUST00000194186]
|
| AlphaFold |
A0A668KLU9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094489
|
| SMART Domains |
Protein: ENSMUSP00000092065
Gene: ENSMUSG00000033898
| 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 |
unknown
Transcript: ENSMUST00000194186
AA Change: S301R
|
| SMART Domains |
Protein: ENSMUSP00000142033
Gene: ENSMUSG00000033898
AA Change: S301R
| 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: 93.3%
- 3x: 90.8%
- 10x: 84.5%
- 20x: 71.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
T |
A |
2: 127,028,933 (GRCm39) |
T89S |
probably benign |
Het |
| 4921517D22Rik |
A |
T |
13: 59,838,305 (GRCm39) |
F176I |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,374,340 (GRCm39) |
D264G |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,286,896 (GRCm39) |
F834I |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 79,856,583 (GRCm39) |
M171L |
probably benign |
Het |
| Arid5b |
A |
T |
10: 67,933,841 (GRCm39) |
M687K |
probably damaging |
Het |
| AU040320 |
A |
T |
4: 126,686,030 (GRCm39) |
Q202L |
probably benign |
Het |
| Ccdc47 |
A |
G |
11: 106,099,034 (GRCm39) |
L219P |
probably damaging |
Het |
| Cog2 |
T |
A |
8: 125,272,010 (GRCm39) |
V508E |
probably benign |
Het |
| Cpb2 |
A |
G |
14: 75,493,463 (GRCm39) |
T47A |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,425,288 (GRCm39) |
K692I |
possibly damaging |
Het |
| Defb34 |
A |
T |
8: 19,176,412 (GRCm39) |
R34S |
possibly damaging |
Het |
| Fads2 |
A |
T |
19: 10,047,694 (GRCm39) |
I275N |
probably damaging |
Het |
| Fmn2 |
T |
G |
1: 174,474,699 (GRCm39) |
S1221A |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,812,035 (GRCm39) |
V302E |
probably benign |
Het |
| Galntl6 |
C |
T |
8: 58,310,621 (GRCm39) |
C360Y |
probably damaging |
Het |
| Gm16519 |
A |
T |
17: 71,236,506 (GRCm39) |
I152F |
probably benign |
Het |
| Hnrnpr |
T |
A |
4: 136,056,750 (GRCm39) |
V250D |
probably damaging |
Het |
| Hs3st6 |
A |
G |
17: 24,977,285 (GRCm39) |
D255G |
possibly damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,810,113 (GRCm39) |
Y657H |
possibly damaging |
Het |
| Ino80 |
C |
T |
2: 119,208,026 (GRCm39) |
V1422M |
probably benign |
Het |
| Insyn2b |
A |
T |
11: 34,353,122 (GRCm39) |
N388I |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,396,021 (GRCm39) |
I669V |
probably benign |
Het |
| Layn |
A |
T |
9: 50,968,711 (GRCm39) |
V344E |
probably damaging |
Het |
| Mgll |
A |
T |
6: 88,802,663 (GRCm39) |
R273W |
possibly damaging |
Het |
| Myh2 |
G |
A |
11: 67,072,818 (GRCm39) |
S636N |
probably benign |
Het |
| Nmur2 |
A |
T |
11: 55,923,835 (GRCm39) |
S240T |
probably benign |
Het |
| Pkd1 |
T |
G |
17: 24,793,003 (GRCm39) |
S1563R |
possibly damaging |
Het |
| Ppp4r3b |
G |
A |
11: 29,137,978 (GRCm39) |
V109I |
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,861,648 (GRCm39) |
D547E |
probably damaging |
Het |
| Prss46 |
A |
T |
9: 110,685,098 (GRCm39) |
M241L |
probably benign |
Het |
| Ptprf |
T |
A |
4: 118,070,809 (GRCm39) |
I1397F |
probably damaging |
Het |
| Pus10 |
A |
T |
11: 23,670,171 (GRCm39) |
T418S |
possibly damaging |
Het |
| Qsox2 |
T |
C |
2: 26,112,320 (GRCm39) |
D74G |
probably damaging |
Het |
| Sctr |
T |
C |
1: 119,989,634 (GRCm39) |
V383A |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 130,914,677 (GRCm39) |
N1480Y |
probably damaging |
Het |
| Skint2 |
T |
C |
4: 112,483,135 (GRCm39) |
I180T |
probably benign |
Het |
| Snd1 |
A |
G |
6: 28,880,295 (GRCm39) |
I690V |
probably benign |
Het |
| Spire1 |
T |
C |
18: 67,624,435 (GRCm39) |
T575A |
probably damaging |
Het |
| Srbd1 |
G |
A |
17: 86,422,640 (GRCm39) |
R459* |
probably null |
Het |
| Tll2 |
C |
A |
19: 41,118,997 (GRCm39) |
V244L |
probably benign |
Het |
| Tmem60 |
A |
G |
5: 21,091,366 (GRCm39) |
I44V |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,542,448 (GRCm39) |
I1846F |
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,880,636 (GRCm39) |
D430G |
|
Het |
| Vps8 |
T |
C |
16: 21,319,084 (GRCm39) |
F641S |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTTTCCAGCCACACAGCTC -3'
(R):5'- TCAATGGGCCTGTGTCAATAATCT -3'
Sequencing Primer
(F):5'- CTCAGTCTCTGAAAGTGAGGCTAGC -3'
(R):5'- CATTATCCCACAGCCTTAAAGTTTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation