Incidental Mutation 'IGL01916:Folr1'
| ID |
179964 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Folr1
|
| Ensembl Gene |
ENSMUSG00000001827 |
| Gene Name |
folate receptor alpha |
| Synonyms |
folate receptor [a], Folbp1, FBP1, folate-binding protein 1, Folbp-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01916
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
101507551-101519974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101507947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 164
(H164Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106981]
[ENSMUST00000106982]
[ENSMUST00000106983]
[ENSMUST00000106985]
[ENSMUST00000106986]
[ENSMUST00000126204]
[ENSMUST00000134145]
[ENSMUST00000209334]
[ENSMUST00000210598]
[ENSMUST00000151706]
[ENSMUST00000140068]
|
| AlphaFold |
P35846 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106981
AA Change: H164Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102594
Gene: ENSMUSG00000001827
AA Change: H164Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Folate_rec
|
34 |
209 |
2.4e-61 |
PFAM |
|
low complexity region
|
242 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106982
AA Change: H164Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102595
Gene: ENSMUSG00000001827
AA Change: H164Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Folate_rec
|
34 |
209 |
2.4e-61 |
PFAM |
|
low complexity region
|
242 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106983
AA Change: H164Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102596
Gene: ENSMUSG00000001827
AA Change: H164Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Folate_rec
|
34 |
209 |
4.2e-68 |
PFAM |
|
low complexity region
|
242 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106985
AA Change: H164Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102598
Gene: ENSMUSG00000001827
AA Change: H164Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Folate_rec
|
34 |
209 |
2.4e-61 |
PFAM |
|
low complexity region
|
242 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106986
AA Change: H164Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102599
Gene: ENSMUSG00000001827
AA Change: H164Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Folate_rec
|
34 |
209 |
2.4e-61 |
PFAM |
|
low complexity region
|
242 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126204
|
| SMART Domains |
Protein: ENSMUSP00000117175
Gene: ENSMUSG00000001827
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Folate_rec
|
34 |
137 |
2.9e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134145
|
| SMART Domains |
Protein: ENSMUSP00000118547
Gene: ENSMUSG00000001827
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Folate_rec
|
34 |
104 |
2.6e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209334
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151706
|
| SMART Domains |
Protein: ENSMUSP00000115077
Gene: ENSMUSG00000001827
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Folate_rec
|
34 |
157 |
8.9e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140068
|
| SMART Domains |
Protein: ENSMUSP00000114633
Gene: ENSMUSG00000001827
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Folate_rec
|
34 |
160 |
9.5e-47 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Embryos homozygous for a knock-out allele are growth retarded and malformed, show multiple developmental anomalies, including neural and craniofacial defects, and die by E10. Folate supplementation of pregnant dams reduces embryonic mortality and improves many of the adverse developmental effects. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(359) : Targeted(3) Gene trapped(356)
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,684,937 (GRCm39) |
T187A |
probably damaging |
Het |
| A430005L14Rik |
C |
A |
4: 154,045,997 (GRCm39) |
F214L |
possibly damaging |
Het |
| A830018L16Rik |
C |
A |
1: 11,818,331 (GRCm39) |
|
probably benign |
Het |
| Adgrd1 |
T |
C |
5: 129,209,902 (GRCm39) |
S342P |
probably benign |
Het |
| Aldh4a1 |
A |
G |
4: 139,371,457 (GRCm39) |
Y457C |
probably damaging |
Het |
| Ankrd7 |
A |
T |
6: 18,868,250 (GRCm39) |
E124V |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 80,003,665 (GRCm39) |
|
probably null |
Het |
| Card14 |
T |
C |
11: 119,233,971 (GRCm39) |
Y854H |
probably benign |
Het |
| Ccdc85c |
T |
C |
12: 108,174,103 (GRCm39) |
H355R |
probably damaging |
Het |
| Ccr3 |
T |
A |
9: 123,829,589 (GRCm39) |
V308D |
probably damaging |
Het |
| Cep170 |
T |
C |
1: 176,567,476 (GRCm39) |
|
probably benign |
Het |
| Cmtr2 |
C |
A |
8: 110,948,580 (GRCm39) |
Q297K |
probably benign |
Het |
| Col19a1 |
A |
C |
1: 24,573,322 (GRCm39) |
L150R |
unknown |
Het |
| Cwf19l2 |
T |
C |
9: 3,477,869 (GRCm39) |
I858T |
possibly damaging |
Het |
| Cyp39a1 |
C |
T |
17: 44,041,941 (GRCm39) |
P383S |
probably damaging |
Het |
| Ddi2 |
C |
T |
4: 141,422,709 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
T |
G |
11: 118,016,114 (GRCm39) |
I342L |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,048,973 (GRCm39) |
I462T |
probably damaging |
Het |
| Ephx4 |
A |
T |
5: 107,553,896 (GRCm39) |
|
probably null |
Het |
| Fam193b |
A |
G |
13: 55,698,031 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,157,366 (GRCm39) |
N2306D |
possibly damaging |
Het |
| Fut10 |
T |
C |
8: 31,725,734 (GRCm39) |
V163A |
probably benign |
Het |
| Gal3st4 |
G |
A |
5: 138,269,197 (GRCm39) |
R83C |
probably damaging |
Het |
| Galnt16 |
T |
C |
12: 80,639,264 (GRCm39) |
|
probably null |
Het |
| Gata5 |
G |
A |
2: 179,968,734 (GRCm39) |
S380F |
possibly damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm4787 |
A |
T |
12: 81,424,218 (GRCm39) |
L647M |
probably benign |
Het |
| Gvin3 |
T |
G |
7: 106,201,033 (GRCm39) |
H737P |
probably benign |
Het |
| Hcfc2 |
A |
G |
10: 82,570,217 (GRCm39) |
K523E |
possibly damaging |
Het |
| Ift70a1 |
C |
A |
2: 75,811,223 (GRCm39) |
V287L |
probably damaging |
Het |
| Igkv6-15 |
A |
T |
6: 70,383,458 (GRCm39) |
Y114* |
probably null |
Het |
| Il10ra |
A |
T |
9: 45,167,444 (GRCm39) |
L369Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,616,606 (GRCm39) |
K51R |
possibly damaging |
Het |
| Kif26a |
C |
T |
12: 112,143,328 (GRCm39) |
P1194L |
possibly damaging |
Het |
| Kntc1 |
T |
G |
5: 123,939,976 (GRCm39) |
L1590R |
probably damaging |
Het |
| Lipo3 |
G |
T |
19: 33,762,182 (GRCm39) |
A105E |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,335,423 (GRCm39) |
S4382C |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,369,830 (GRCm39) |
E79K |
probably damaging |
Het |
| Nmnat2 |
T |
C |
1: 152,969,792 (GRCm39) |
I195T |
probably damaging |
Het |
| Or11g25 |
A |
G |
14: 50,722,950 (GRCm39) |
T12A |
probably benign |
Het |
| Pcdhb13 |
A |
G |
18: 37,576,914 (GRCm39) |
T431A |
possibly damaging |
Het |
| Pcgf3 |
G |
A |
5: 108,634,045 (GRCm39) |
G101D |
probably benign |
Het |
| Phip |
T |
C |
9: 82,772,522 (GRCm39) |
D1070G |
possibly damaging |
Het |
| Ren1 |
A |
G |
1: 133,286,150 (GRCm39) |
H231R |
probably benign |
Het |
| Sox9 |
C |
A |
11: 112,675,500 (GRCm39) |
Q230K |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,498,497 (GRCm39) |
Y154N |
probably damaging |
Het |
| Thnsl1 |
A |
T |
2: 21,217,476 (GRCm39) |
N410I |
possibly damaging |
Het |
| Tnfrsf21 |
A |
T |
17: 43,350,694 (GRCm39) |
E286V |
probably benign |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,246 (GRCm39) |
R60G |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wrn |
T |
A |
8: 33,747,252 (GRCm39) |
I1110F |
possibly damaging |
Het |
| Zfp777 |
G |
T |
6: 48,002,276 (GRCm39) |
R649S |
probably damaging |
Het |
| Zmym6 |
T |
A |
4: 127,017,549 (GRCm39) |
I1110N |
probably damaging |
Het |
|
| Other mutations in Folr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02423:Folr1
|
APN |
7 |
101,507,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0071:Folr1
|
UTSW |
7 |
101,513,130 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0071:Folr1
|
UTSW |
7 |
101,513,130 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1022:Folr1
|
UTSW |
7 |
101,507,810 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1024:Folr1
|
UTSW |
7 |
101,507,810 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1562:Folr1
|
UTSW |
7 |
101,507,801 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2299:Folr1
|
UTSW |
7 |
101,513,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3690:Folr1
|
UTSW |
7 |
101,507,745 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4746:Folr1
|
UTSW |
7 |
101,513,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Folr1
|
UTSW |
7 |
101,513,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5319:Folr1
|
UTSW |
7 |
101,513,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Folr1
|
UTSW |
7 |
101,513,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6275:Folr1
|
UTSW |
7 |
101,508,742 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7284:Folr1
|
UTSW |
7 |
101,508,677 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Posted On |
2014-05-07 |
Incidental Mutation