Incidental Mutation 'R4410:Folr2'
| ID |
327861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Folr2
|
| Ensembl Gene |
ENSMUSG00000032725 |
| Gene Name |
folate receptor beta |
| Synonyms |
Folbp2, Folbp-2, FR-P3, Folbp2, FBP2 |
| MMRRC Submission |
041692-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4410 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101489195-101506397 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101489881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 129
(E129G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035836]
[ENSMUST00000094141]
[ENSMUST00000165052]
[ENSMUST00000185929]
[ENSMUST00000209329]
[ENSMUST00000210598]
[ENSMUST00000211566]
|
| AlphaFold |
Q05685 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035836
|
| SMART Domains |
Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
19 |
108 |
1.21e-26 |
SMART |
|
low complexity region
|
116 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
Blast:IPPc
|
250 |
349 |
5e-14 |
BLAST |
|
IPPc
|
423 |
736 |
3.98e-137 |
SMART |
|
low complexity region
|
934 |
957 |
N/A |
INTRINSIC |
|
low complexity region
|
997 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1102 |
N/A |
INTRINSIC |
|
SAM
|
1192 |
1257 |
2.47e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094141
AA Change: E129G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091692
Gene: ENSMUSG00000032725
AA Change: E129G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Folate_rec
|
29 |
203 |
2.5e-64 |
PFAM |
|
low complexity region
|
233 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098239
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165052
|
| SMART Domains |
Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
19 |
108 |
1.21e-26 |
SMART |
|
low complexity region
|
116 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
Blast:IPPc
|
250 |
349 |
5e-14 |
BLAST |
|
IPPc
|
423 |
736 |
3.98e-137 |
SMART |
|
low complexity region
|
934 |
957 |
N/A |
INTRINSIC |
|
low complexity region
|
997 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1102 |
N/A |
INTRINSIC |
|
SAM
|
1192 |
1257 |
2.47e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185929
|
| SMART Domains |
Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
19 |
108 |
7.6e-29 |
SMART |
|
low complexity region
|
116 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
Blast:IPPc
|
250 |
349 |
4e-14 |
BLAST |
|
IPPc
|
423 |
736 |
1.9e-139 |
SMART |
|
low complexity region
|
934 |
957 |
N/A |
INTRINSIC |
|
low complexity region
|
997 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1102 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209329
AA Change: E129G
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209481
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210598
AA Change: E129G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211793
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209861
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211428
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211566
|
| Meta Mutation Damage Score |
0.7088 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (46/48) |
| MGI Phenotype |
FUNCTION: This gene encodes a receptor protein located on the plasma membrane that mediates folate uptake by cells. Mice lacking the product of this gene show no defects in embryonic development and grow normally into fertile adults. However, such mice were found to be highly susceptible to the teratogenic effects of arsenic. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and physically normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
A |
T |
15: 76,609,712 (GRCm39) |
|
probably benign |
Het |
| Arrb1 |
G |
T |
7: 99,247,503 (GRCm39) |
|
probably benign |
Het |
| Cadps |
A |
G |
14: 12,822,323 (GRCm38) |
M139T |
probably damaging |
Het |
| Casr |
A |
G |
16: 36,320,703 (GRCm39) |
C482R |
probably benign |
Het |
| Cdca4 |
A |
T |
12: 112,785,499 (GRCm39) |
H76Q |
probably benign |
Het |
| Ddias |
A |
G |
7: 92,507,287 (GRCm39) |
L876P |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,976,303 (GRCm39) |
S1249G |
possibly damaging |
Het |
| Dnttip1 |
A |
G |
2: 164,609,739 (GRCm39) |
|
probably benign |
Het |
| Eme2 |
A |
G |
17: 25,112,598 (GRCm39) |
S160P |
probably benign |
Het |
| Fbxw24 |
A |
T |
9: 109,437,256 (GRCm39) |
D210E |
probably damaging |
Het |
| Herc6 |
T |
A |
6: 57,636,664 (GRCm39) |
N793K |
possibly damaging |
Het |
| Iqcg |
T |
G |
16: 32,851,186 (GRCm39) |
K262Q |
possibly damaging |
Het |
| Lhfpl3 |
A |
G |
5: 22,980,690 (GRCm39) |
|
probably benign |
Het |
| Lmod2 |
A |
C |
6: 24,604,629 (GRCm39) |
S535R |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,555,094 (GRCm39) |
S342C |
possibly damaging |
Het |
| Lrrn3 |
T |
A |
12: 41,502,583 (GRCm39) |
Y578F |
possibly damaging |
Het |
| Map3k4 |
T |
A |
17: 12,467,885 (GRCm39) |
R1050W |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,217,576 (GRCm39) |
T2301S |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,372,702 (GRCm39) |
E4048G |
probably damaging |
Het |
| Myh3 |
G |
C |
11: 66,975,858 (GRCm39) |
E297Q |
possibly damaging |
Het |
| Nkain3 |
A |
G |
4: 20,778,284 (GRCm39) |
V11A |
probably benign |
Het |
| Or4c102 |
G |
A |
2: 88,422,765 (GRCm39) |
V206I |
probably benign |
Het |
| P3h2 |
G |
C |
16: 25,924,040 (GRCm39) |
R132G |
possibly damaging |
Het |
| Pals2 |
C |
T |
6: 50,175,248 (GRCm39) |
Q520* |
probably null |
Het |
| Phgdh |
A |
G |
3: 98,221,591 (GRCm39) |
M447T |
probably benign |
Het |
| Pmfbp1 |
G |
A |
8: 110,258,695 (GRCm39) |
A667T |
probably benign |
Het |
| Pramel41 |
A |
T |
5: 94,593,720 (GRCm39) |
Q15L |
probably benign |
Het |
| Psmd2 |
T |
G |
16: 20,473,776 (GRCm39) |
C230G |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc37a3 |
T |
A |
6: 39,315,747 (GRCm39) |
Y443F |
probably benign |
Het |
| Sorl1 |
C |
A |
9: 41,915,288 (GRCm39) |
G1314* |
probably null |
Het |
| Spag7 |
T |
C |
11: 70,555,688 (GRCm39) |
D83G |
probably damaging |
Het |
| St7 |
C |
T |
6: 17,854,932 (GRCm39) |
R267* |
probably null |
Het |
| Syne2 |
C |
T |
12: 76,141,167 (GRCm39) |
S99L |
probably damaging |
Het |
| Tacc2 |
T |
G |
7: 130,343,941 (GRCm39) |
S2533R |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Uaca |
T |
G |
9: 60,777,173 (GRCm39) |
V518G |
probably damaging |
Het |
| Usp43 |
T |
C |
11: 67,746,716 (GRCm39) |
E992G |
probably benign |
Het |
| Vmn1r55 |
A |
G |
7: 5,150,075 (GRCm39) |
V116A |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,047,543 (GRCm39) |
T844M |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,911,320 (GRCm39) |
M904K |
probably damaging |
Het |
| Zbtb39 |
A |
G |
10: 127,578,696 (GRCm39) |
I423M |
possibly damaging |
Het |
| Zmym1 |
A |
T |
4: 126,941,897 (GRCm39) |
C830* |
probably null |
Het |
|
| Other mutations in Folr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Folr2
|
APN |
7 |
101,489,593 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Frontier
|
UTSW |
7 |
101,489,881 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4214:Folr2
|
UTSW |
7 |
101,492,906 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4755:Folr2
|
UTSW |
7 |
101,493,006 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4944:Folr2
|
UTSW |
7 |
101,489,497 (GRCm39) |
splice site |
probably null |
|
|
R5421:Folr2
|
UTSW |
7 |
101,489,851 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7810:Folr2
|
UTSW |
7 |
101,490,102 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8888:Folr2
|
UTSW |
7 |
101,489,408 (GRCm39) |
missense |
unknown |
|
|
R8895:Folr2
|
UTSW |
7 |
101,489,408 (GRCm39) |
missense |
unknown |
|
|
R9713:Folr2
|
UTSW |
7 |
101,489,809 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCAGAATCATAGTGGGC -3'
(R):5'- CCAAGACTCCTGCCTGTATGAG -3'
Sequencing Primer
(F):5'- TCATAGTGGGCACAGACATTTAGACC -3'
(R):5'- GTATGAGTGCTCCCCCAAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation