Incidental Mutation 'R1079:Folh1'
ID 85783
Institutional Source Beutler Lab
Gene Symbol Folh1
Ensembl Gene ENSMUSG00000001773
Gene Name folate hydrolase 1
Synonyms GCP2, mopsm, glutamate carboxypeptidase II, prostate-specific membrane antigen
MMRRC Submission 039165-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1079 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 86368185-86425151 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 86421089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 80 (T80K)
Ref Sequence ENSEMBL: ENSMUSP00000001824 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001824] [ENSMUST00000107271]
AlphaFold O35409
Predicted Effect probably damaging
Transcript: ENSMUST00000001824
AA Change: T80K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773
AA Change: T80K

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:PA 171 264 2.5e-16 PFAM
Pfam:Peptidase_M28 359 561 1.2e-18 PFAM
Pfam:TFR_dimer 629 749 1.6e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107271
AA Change: T80K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773
AA Change: T80K

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:PA 167 265 7e-18 PFAM
Pfam:Peptidase_M28 339 475 2.1e-15 PFAM
Pfam:TFR_dimer 595 718 1.1e-43 PFAM
Meta Mutation Damage Score 0.5078 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 98% (46/47)
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in protection from peripheral neuropathy and ischemic brain injury. Homozygotes for a null allele show increased food intake, anxiety-like behavior, smaller sciatic nerve axons, and impaired angiogenesis. Homozygotes for a different null allele show less neuron degeneration and astrocyte damage after traumatic brain injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik T C 7: 30,399,209 (GRCm39) M1T probably null Het
Adam25 T C 8: 41,208,513 (GRCm39) V593A possibly damaging Het
Agrn C T 4: 156,261,682 (GRCm39) C536Y probably damaging Het
Amigo3 T C 9: 107,931,051 (GRCm39) M158T probably benign Het
Arsa G A 15: 89,358,428 (GRCm39) probably benign Het
Baz1a T A 12: 54,941,785 (GRCm39) I1474L possibly damaging Het
Cfap144 A G 11: 58,692,620 (GRCm39) Y36H probably benign Het
Cfap65 G A 1: 74,941,606 (GRCm39) A1776V probably damaging Het
Cfap65 A G 1: 74,944,872 (GRCm39) V1455A probably damaging Het
Cnot6 G T 11: 49,575,930 (GRCm39) D176E probably benign Het
Crot A T 5: 9,043,504 (GRCm39) probably null Het
Cryba2 A T 1: 74,929,717 (GRCm39) V140E probably damaging Het
Dennd4b G A 3: 90,178,485 (GRCm39) R516K probably benign Het
Dst C A 1: 34,225,944 (GRCm39) T1697N possibly damaging Het
Eftud2 G T 11: 102,730,870 (GRCm39) Y837* probably null Het
Evpl G T 11: 116,120,894 (GRCm39) T447K possibly damaging Het
Fndc3a A T 14: 72,827,247 (GRCm39) M146K possibly damaging Het
Gm4922 T A 10: 18,660,086 (GRCm39) Y212F probably damaging Het
Gtf2i T G 5: 134,271,748 (GRCm39) probably benign Het
Hipk3 A G 2: 104,302,043 (GRCm39) F50L probably benign Het
Ifit1bl2 T A 19: 34,596,885 (GRCm39) T244S probably benign Het
Ikzf2 T C 1: 69,578,264 (GRCm39) D341G possibly damaging Het
Kif3a G C 11: 53,461,408 (GRCm39) V17L possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lzts2 T A 19: 45,011,983 (GRCm39) N137K probably damaging Het
Mphosph8 T A 14: 56,911,716 (GRCm39) D246E probably damaging Het
Myh14 T C 7: 44,279,426 (GRCm39) E918G probably damaging Het
N6amt1 T C 16: 87,153,086 (GRCm39) V52A probably damaging Het
Npr2 A C 4: 43,643,654 (GRCm39) T561P probably damaging Het
Nudt12 G A 17: 59,318,032 (GRCm39) probably benign Het
Or10ad1 A C 15: 98,106,223 (GRCm39) V14G probably damaging Het
Or5w8 A G 2: 87,687,699 (GRCm39) Y60C probably damaging Het
Or6n2 A T 1: 173,897,032 (GRCm39) H56L possibly damaging Het
Or8k22 T A 2: 86,163,185 (GRCm39) R172W probably damaging Het
Pan2 A G 10: 128,154,107 (GRCm39) T1050A probably damaging Het
Rad17 G T 13: 100,770,407 (GRCm39) D213E probably benign Het
Sall2 T A 14: 52,550,660 (GRCm39) H843L probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sema3e A T 5: 14,275,669 (GRCm39) N258I probably benign Het
Siglec1 G A 2: 130,921,297 (GRCm39) R625* probably null Het
Slc15a3 T C 19: 10,833,344 (GRCm39) S454P probably benign Het
Sp110 G A 1: 85,516,825 (GRCm39) probably benign Het
Spatc1l T C 10: 76,399,741 (GRCm39) S88P probably damaging Het
Ssh3 A C 19: 4,316,577 (GRCm39) L143R probably damaging Het
Ttn C T 2: 76,587,340 (GRCm39) probably benign Het
Vps35 A G 8: 86,005,683 (GRCm39) L306S probably damaging Het
Zfp729a T C 13: 67,767,794 (GRCm39) I812V possibly damaging Het
Other mutations in Folh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Folh1 APN 7 86,383,351 (GRCm39) missense probably damaging 1.00
IGL00531:Folh1 APN 7 86,368,977 (GRCm39) missense possibly damaging 0.82
IGL00772:Folh1 APN 7 86,380,992 (GRCm39) missense probably damaging 1.00
IGL01339:Folh1 APN 7 86,375,306 (GRCm39) missense probably damaging 1.00
IGL01373:Folh1 APN 7 86,395,350 (GRCm39) missense probably benign 0.39
IGL01645:Folh1 APN 7 86,391,435 (GRCm39) missense probably damaging 1.00
IGL01736:Folh1 APN 7 86,391,444 (GRCm39) missense possibly damaging 0.96
IGL02104:Folh1 APN 7 86,393,638 (GRCm39) missense possibly damaging 0.93
IGL02124:Folh1 APN 7 86,374,626 (GRCm39) missense probably damaging 0.99
IGL02338:Folh1 APN 7 86,385,723 (GRCm39) splice site probably benign
IGL02440:Folh1 APN 7 86,383,312 (GRCm39) missense probably benign 0.09
IGL02689:Folh1 APN 7 86,412,253 (GRCm39) splice site probably null
IGL02976:Folh1 APN 7 86,412,126 (GRCm39) missense probably benign
IGL03022:Folh1 APN 7 86,395,379 (GRCm39) missense possibly damaging 0.76
R0090:Folh1 UTSW 7 86,375,076 (GRCm39) splice site probably benign
R0285:Folh1 UTSW 7 86,391,373 (GRCm39) splice site probably benign
R0482:Folh1 UTSW 7 86,395,309 (GRCm39) splice site probably benign
R0492:Folh1 UTSW 7 86,395,400 (GRCm39) missense probably damaging 1.00
R1148:Folh1 UTSW 7 86,410,938 (GRCm39) missense probably damaging 1.00
R1148:Folh1 UTSW 7 86,410,938 (GRCm39) missense probably damaging 1.00
R1493:Folh1 UTSW 7 86,410,938 (GRCm39) missense probably damaging 1.00
R1778:Folh1 UTSW 7 86,410,907 (GRCm39) critical splice donor site probably null
R1865:Folh1 UTSW 7 86,375,114 (GRCm39) missense possibly damaging 0.65
R1878:Folh1 UTSW 7 86,420,950 (GRCm39) missense probably benign
R1906:Folh1 UTSW 7 86,391,374 (GRCm39) splice site probably null
R1912:Folh1 UTSW 7 86,412,175 (GRCm39) missense possibly damaging 0.95
R2263:Folh1 UTSW 7 86,368,973 (GRCm39) missense probably benign
R3001:Folh1 UTSW 7 86,372,519 (GRCm39) missense probably damaging 1.00
R3002:Folh1 UTSW 7 86,372,519 (GRCm39) missense probably damaging 1.00
R3883:Folh1 UTSW 7 86,424,864 (GRCm39) missense possibly damaging 0.48
R4061:Folh1 UTSW 7 86,406,170 (GRCm39) missense possibly damaging 0.49
R4277:Folh1 UTSW 7 86,412,123 (GRCm39) critical splice donor site probably null
R4507:Folh1 UTSW 7 86,406,216 (GRCm39) missense probably benign
R4627:Folh1 UTSW 7 86,422,460 (GRCm39) missense probably benign 0.00
R4652:Folh1 UTSW 7 86,393,633 (GRCm39) nonsense probably null
R4653:Folh1 UTSW 7 86,393,633 (GRCm39) nonsense probably null
R4745:Folh1 UTSW 7 86,372,482 (GRCm39) critical splice donor site probably null
R5571:Folh1 UTSW 7 86,383,328 (GRCm39) missense probably damaging 1.00
R6000:Folh1 UTSW 7 86,375,142 (GRCm39) missense probably benign 0.01
R6307:Folh1 UTSW 7 86,372,517 (GRCm39) missense probably damaging 1.00
R6474:Folh1 UTSW 7 86,424,964 (GRCm39) missense probably damaging 0.99
R7112:Folh1 UTSW 7 86,424,845 (GRCm39) critical splice donor site probably null
R7131:Folh1 UTSW 7 86,375,320 (GRCm39) missense probably damaging 1.00
R7449:Folh1 UTSW 7 86,380,956 (GRCm39) missense probably benign 0.00
R7494:Folh1 UTSW 7 86,368,907 (GRCm39) missense probably damaging 1.00
R7539:Folh1 UTSW 7 86,375,117 (GRCm39) missense probably benign 0.35
R7764:Folh1 UTSW 7 86,412,126 (GRCm39) missense probably benign
R7803:Folh1 UTSW 7 86,375,306 (GRCm39) missense probably damaging 1.00
R8105:Folh1 UTSW 7 86,395,354 (GRCm39) missense probably damaging 1.00
R8208:Folh1 UTSW 7 86,375,125 (GRCm39) missense probably damaging 0.98
R8347:Folh1 UTSW 7 86,378,326 (GRCm39) nonsense probably null
R9130:Folh1 UTSW 7 86,368,913 (GRCm39) missense probably benign 0.12
R9749:Folh1 UTSW 7 86,368,908 (GRCm39) missense probably damaging 1.00
R9764:Folh1 UTSW 7 86,406,158 (GRCm39) missense probably benign 0.03
RF007:Folh1 UTSW 7 86,424,895 (GRCm39) missense probably benign
Z1088:Folh1 UTSW 7 86,375,162 (GRCm39) missense probably benign 0.00
Z1177:Folh1 UTSW 7 86,411,030 (GRCm39) missense probably benign 0.00
Z1177:Folh1 UTSW 7 86,393,655 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTTCAAAGGGAAATCACAAATGTCCA -3'
(R):5'- GCCCCATTGAGTAAGAGGCATTAGG -3'

Sequencing Primer
(F):5'- GCAACTAAAGTGAAATCTTTCTGC -3'
(R):5'- CTTCTTCATGAAAAGTCCCCACA -3'
Posted On 2013-11-18