Mutagenetix > Incidental Mutation

Incidental Mutation 'R0285:Folh1'

24670

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

038506-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86368185-86425151 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 86391373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001824] [ENSMUST00000107271]

AlphaFold

O35409

Predicted Effect

probably benign
Transcript: ENSMUST00000001824

SMART Domains

Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000107271

SMART Domains

Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209082

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 92.9%

Validation Efficiency

99% (80/81)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy3	A	G	19: 4,038,193 (GRCm39)	E162G	probably benign	Het
Angptl1	T	C	1: 156,672,785 (GRCm39)	S204P	probably benign	Het
Atf6b	C	T	17: 34,869,370 (GRCm39)		probably benign	Het
Card11	G	A	5: 140,872,856 (GRCm39)	S619F	probably damaging	Het
Ccdc192	G	A	18: 57,666,937 (GRCm39)	G5S	probably damaging	Het
Ccl11	G	A	11: 81,953,084 (GRCm39)	V81I	probably damaging	Het
Cds1	T	C	5: 101,944,904 (GRCm39)	I126T	probably damaging	Het
Chd1	A	G	17: 17,594,942 (GRCm39)		probably benign	Het
Cndp1	C	A	18: 84,636,363 (GRCm39)	V384F	possibly damaging	Het
Cuta	A	G	17: 27,158,423 (GRCm39)		probably null	Het
Diaph3	G	A	14: 87,352,460 (GRCm39)	T47I	possibly damaging	Het
Dop1a	A	T	9: 86,394,692 (GRCm39)	S598C	probably damaging	Het
Dsp	A	G	13: 38,356,770 (GRCm39)	M217V	probably benign	Het
Entrep1	G	A	19: 23,956,749 (GRCm39)		probably benign	Het
Esyt1	T	A	10: 128,348,087 (GRCm39)	I898F	possibly damaging	Het
Fcsk	G	C	8: 111,620,349 (GRCm39)	H235Q	probably benign	Het
Fgd3	A	T	13: 49,417,424 (GRCm39)	W680R	possibly damaging	Het
Gadl1	C	A	9: 115,859,806 (GRCm39)		probably benign	Het
Garem1	A	G	18: 21,262,669 (GRCm39)	M715T	probably benign	Het
Gpd2	A	T	2: 57,228,967 (GRCm39)	D257V	probably benign	Het
Hdac7	A	G	15: 97,696,103 (GRCm39)		probably null	Het
Heatr5b	A	G	17: 79,115,882 (GRCm39)	M858T	probably benign	Het
Inpp4b	A	T	8: 82,761,145 (GRCm39)		probably benign	Het
Iqgap3	G	T	3: 88,004,297 (GRCm39)	C461F	probably benign	Het
Lamb1	C	A	12: 31,376,644 (GRCm39)	C559*	probably null	Het
Lratd2	T	C	15: 60,694,816 (GRCm39)	H310R	probably benign	Het
Lrrc31	T	C	3: 30,739,097 (GRCm39)	N308S	probably benign	Het
Ly75	T	C	2: 60,148,663 (GRCm39)	Y1222C	probably damaging	Het
Map3k10	C	A	7: 27,373,325 (GRCm39)	R42L	probably benign	Het
Meioc	A	G	11: 102,563,017 (GRCm39)	T72A	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mmp11	T	C	10: 75,761,502 (GRCm39)	Y366C	probably damaging	Het
N4bp2	T	A	5: 65,963,902 (GRCm39)	D650E	probably benign	Het
Ncoa6	T	C	2: 155,257,621 (GRCm39)	M641V	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nol4l	G	A	2: 153,325,773 (GRCm39)		probably benign	Het
Notch1	T	G	2: 26,350,873 (GRCm39)	D2089A	possibly damaging	Het
Or10q3	A	G	19: 11,848,502 (GRCm39)	L26P	probably damaging	Het
Or13c7	G	A	4: 43,854,398 (GRCm39)	V30M	possibly damaging	Het
Or52h2	A	T	7: 103,838,531 (GRCm39)	Y294*	probably null	Het
Or5b24	A	T	19: 12,912,536 (GRCm39)	M145L	probably benign	Het
Or5l13	A	G	2: 87,780,475 (GRCm39)	I34T	probably damaging	Het
Or5p68	A	G	7: 107,945,706 (GRCm39)	S161P	probably benign	Het
Or8d23	T	A	9: 38,842,070 (GRCm39)	I201N	possibly damaging	Het
Otof	C	T	5: 30,536,877 (GRCm39)		probably null	Het
Paox	T	C	7: 139,709,053 (GRCm39)	F324L	probably damaging	Het
Pycr1	A	T	11: 120,531,142 (GRCm39)	I277N	probably benign	Het
R3hcc1l	A	T	19: 42,564,568 (GRCm39)	H627L	probably damaging	Het
Rab21	G	A	10: 115,126,768 (GRCm39)	S193L	probably benign	Het
Ralgds	T	G	2: 28,440,581 (GRCm39)		probably null	Het
Rbm42	A	G	7: 30,345,265 (GRCm39)	S169P	possibly damaging	Het
Rfpl4	A	G	7: 5,113,377 (GRCm39)	V262A	probably benign	Het
Rhobtb3	A	G	13: 76,025,628 (GRCm39)	I496T	possibly damaging	Het
Rnf31	G	A	14: 55,838,846 (GRCm39)	A901T	probably damaging	Het
Ryr2	T	C	13: 11,731,863 (GRCm39)	D2359G	probably damaging	Het
Sgo2b	A	C	8: 64,381,823 (GRCm39)	Y336*	probably null	Het
Slc16a7	T	A	10: 125,130,500 (GRCm39)	I62L	probably benign	Het
Slc22a21	A	T	11: 53,850,022 (GRCm39)		probably benign	Het
Slc25a21	A	G	12: 56,904,810 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,898,117 (GRCm39)	I532M	probably damaging	Het
Spata31f1a	G	A	4: 42,850,236 (GRCm39)	T640M	probably benign	Het
Srrm4	C	A	5: 116,605,848 (GRCm39)		probably benign	Het
Stxbp1	C	A	2: 32,713,554 (GRCm39)	E27D	probably benign	Het
Sult2a5	T	A	7: 13,362,685 (GRCm39)	Y131N	probably damaging	Het
Svopl	T	C	6: 37,961,457 (GRCm39)	Q492R	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem87a	A	G	2: 120,224,905 (GRCm39)	S119P	probably benign	Het
Tmprss11c	A	G	5: 86,419,289 (GRCm39)	L90P	probably damaging	Het
Tmprss6	T	A	15: 78,337,068 (GRCm39)	D346V	probably damaging	Het
Ubr4	A	C	4: 139,168,112 (GRCm39)	S2820R	probably damaging	Het
Usp4	T	C	9: 108,255,763 (GRCm39)	V607A	probably benign	Het
Usp45	A	G	4: 21,798,603 (GRCm39)		probably null	Het
Vill	C	T	9: 118,899,895 (GRCm39)		probably benign	Het
Vmn1r13	C	A	6: 57,186,979 (GRCm39)	T46N	probably benign	Het
Vmn2r107	A	G	17: 20,565,873 (GRCm39)	T63A	probably benign	Het
Vmn2r82	T	A	10: 79,232,391 (GRCm39)	W797R	probably damaging	Het
Washc2	T	A	6: 116,198,800 (GRCm39)	D287E	probably damaging	Het
Xpc	G	A	6: 91,475,046 (GRCm39)	L660F	probably damaging	Het

Other mutations in Folh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R1079:Folh1	UTSW	7	86,421,089 (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'- ATTTAGTGCCtgtatgtgtgttttgtgaac -3'
(R):5'- AGTCTTCAGCATTTTGTGATTTCCCATCTT -3'

Sequencing Primer
(F):5'- cagccaagtaataggtatgaatgtag -3'
(R):5'- TTTAGGACGGAGGCCTAGAA -3'

Posted On

2013-04-16