Mutagenetix > Incidental Mutation

Incidental Mutation 'R1061:Flvcr1'

94427

Institutional Source

Beutler Lab

Gene Symbol

Flvcr1

Ensembl Gene

ENSMUSG00000066595

Gene Name

feline leukemia virus subgroup C cellular receptor 1

Synonyms

9630055N22Rik, Mfsd7b

MMRRC Submission

039147-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1061 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

190738044-190758355 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 190740370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 550 (V550E)

Ref Sequence

ENSEMBL: ENSMUSP00000082777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085635] [ENSMUST00000192666]

AlphaFold

B2RXV4

Predicted Effect

probably benign
Transcript: ENSMUST00000085635
AA Change: V550E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000082777
Gene: ENSMUSG00000066595
AA Change: V550E

Domain	Start	End	E-Value	Type
low complexity region	40	68	N/A	INTRINSIC
Pfam:MFS_1	100	483	1.5e-28	PFAM
transmembrane domain	498	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192666

SMART Domains

Protein: ENSMUSP00000141985
Gene: ENSMUSG00000066595

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
Pfam:MFS_1	54	198	3.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194917

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit runting, cardiomegaly and splenomegaly, lack definitive erythropoiesis, develop severe hyperchromic macrocytic anemia and reticulocytopenia, and show craniofacial and limb defects and intrauterine lethality modulated by genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,108,153 (GRCm39)	A715T	probably benign	Het
Ampd2	A	G	3: 107,983,005 (GRCm39)	Y641H	probably damaging	Het
Aqp4	A	T	18: 15,531,248 (GRCm39)	V171E	probably damaging	Het
Arid4a	T	A	12: 71,121,729 (GRCm39)	S381R	probably damaging	Het
Armc8	T	G	9: 99,419,784 (GRCm39)	N51H	probably damaging	Het
Asic5	T	A	3: 81,928,308 (GRCm39)	Y424N	probably damaging	Het
Bcl11a	A	T	11: 24,114,069 (GRCm39)	K471*	probably null	Het
Birc6	A	G	17: 74,996,307 (GRCm39)	T4494A	probably damaging	Het
Btbd9	A	G	17: 30,746,409 (GRCm39)	I139T	probably benign	Het
Ccdc60	C	A	5: 116,310,527 (GRCm39)	R178S	possibly damaging	Het
Cd163	C	T	6: 124,286,128 (GRCm39)	A226V	probably benign	Het
Cibar2	C	A	8: 120,896,443 (GRCm39)		probably null	Het
Cog1	T	G	11: 113,542,863 (GRCm39)	S170A	probably benign	Het
Cwc15	T	C	9: 14,419,211 (GRCm39)	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,923,643 (GRCm39)	D333E	probably benign	Het
Ddc	C	T	11: 11,779,132 (GRCm39)	V331I	probably benign	Het
Dlc1	T	A	8: 37,325,205 (GRCm39)	T367S	probably benign	Het
Dnah17	T	C	11: 117,943,514 (GRCm39)	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,452,486 (GRCm39)	Y165*	probably null	Het
Eml6	T	C	11: 29,727,267 (GRCm39)	D1285G	probably damaging	Het
Fasn	T	C	11: 120,713,008 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,187,883 (GRCm39)	T1549A	probably benign	Het
Fezf2	T	C	14: 12,342,713 (GRCm38)	Y384C	probably damaging	Het
Gcm2	A	G	13: 41,259,347 (GRCm39)	W41R	probably damaging	Het
Gli2	A	T	1: 118,782,247 (GRCm39)	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,057,623 (GRCm39)	R346H	probably damaging	Het
Hoxa5	A	T	6: 52,181,135 (GRCm39)	S66T	probably benign	Het
Hsph1	A	T	5: 149,541,883 (GRCm39)	V781D	possibly damaging	Het
Kdm3b	G	A	18: 34,929,915 (GRCm39)	V220M	probably damaging	Het
Klhl25	T	A	7: 75,516,268 (GRCm39)	Y391*	probably null	Het
Mc2r	A	T	18: 68,540,880 (GRCm39)	Y138N	probably damaging	Het
Mtap	C	A	4: 89,074,821 (GRCm39)	D106E	probably benign	Het
Nup43	G	T	10: 7,543,435 (GRCm39)	W37L	probably damaging	Het
Nxpe2	T	A	9: 48,237,663 (GRCm39)	E197D	probably damaging	Het
Odad1	T	C	7: 45,591,179 (GRCm39)	I218T	probably damaging	Het
Or10d1c	C	A	9: 38,893,779 (GRCm39)	C187F	probably damaging	Het
Or55b4	T	A	7: 102,133,321 (GRCm39)	*335C	probably null	Het
Or5p60	T	C	7: 107,723,663 (GRCm39)	Y269C	probably damaging	Het
Or8h8	A	T	2: 86,753,126 (GRCm39)	V250D	possibly damaging	Het
Pitrm1	A	G	13: 6,605,611 (GRCm39)	H186R	probably damaging	Het
Pklr	C	T	3: 89,052,188 (GRCm39)	R467C	probably damaging	Het
Plxna2	A	G	1: 194,326,401 (GRCm39)	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,558,682 (GRCm39)		probably null	Het
R3hcc1l	C	T	19: 42,571,865 (GRCm39)	R135*	probably null	Het
Ralyl	A	C	3: 14,180,761 (GRCm39)	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
S100a1	T	C	3: 90,418,619 (GRCm39)	N65S	probably damaging	Het
Scn11a	A	T	9: 119,624,729 (GRCm39)	M531K	probably damaging	Het
Slc5a5	T	A	8: 71,342,865 (GRCm39)	M232L	probably benign	Het
Tet3	A	T	6: 83,350,305 (GRCm39)	N1054K	probably damaging	Het
Tg	A	G	15: 66,570,408 (GRCm39)	N1427D	probably benign	Het
Tns1	A	C	1: 73,956,831 (GRCm39)	V530G	probably damaging	Het
Trcg1	C	A	9: 57,153,156 (GRCm39)	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,468,131 (GRCm39)	E40G	probably damaging	Het
Usp34	T	C	11: 23,334,420 (GRCm39)	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,038,603 (GRCm39)	T726I	probably benign	Het
Vmn2r97	A	T	17: 19,148,440 (GRCm39)	R112*	probably null	Het
Vwa2	G	T	19: 56,897,426 (GRCm39)	R577L	probably benign	Het
Vwa3b	A	C	1: 37,196,511 (GRCm39)	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,958,725 (GRCm39)		probably null	Het
Wrap53	A	G	11: 69,453,226 (GRCm39)	L405P	probably damaging	Het
Zfp629	C	A	7: 127,211,161 (GRCm39)	W216L	probably damaging	Het

Other mutations in Flvcr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Flvcr1	APN	1	190,747,686 (GRCm39)	nonsense	probably null
IGL01089:Flvcr1	APN	1	190,745,587 (GRCm39)	missense	probably damaging	0.98
IGL02572:Flvcr1	APN	1	190,757,843 (GRCm39)	missense	probably damaging	1.00
IGL03248:Flvcr1	APN	1	190,757,939 (GRCm39)	missense	probably damaging	1.00
R0009:Flvcr1	UTSW	1	190,740,388 (GRCm39)	missense	probably benign
R0122:Flvcr1	UTSW	1	190,753,423 (GRCm39)	missense	possibly damaging	0.79
R0363:Flvcr1	UTSW	1	190,744,451 (GRCm39)	splice site	probably benign
R0417:Flvcr1	UTSW	1	190,743,416 (GRCm39)	missense	probably benign	0.05
R0718:Flvcr1	UTSW	1	190,757,779 (GRCm39)	missense	probably damaging	1.00
R1815:Flvcr1	UTSW	1	190,757,577 (GRCm39)	missense	probably damaging	1.00
R2029:Flvcr1	UTSW	1	190,753,353 (GRCm39)	missense	probably benign	0.01
R4590:Flvcr1	UTSW	1	190,744,343 (GRCm39)	missense	probably benign	0.05
R4766:Flvcr1	UTSW	1	190,753,303 (GRCm39)	missense	probably benign	0.00
R4889:Flvcr1	UTSW	1	190,757,764 (GRCm39)	missense	probably damaging	1.00
R4956:Flvcr1	UTSW	1	190,758,383 (GRCm39)	unclassified	probably benign
R4976:Flvcr1	UTSW	1	190,757,692 (GRCm39)	missense	probably damaging	1.00
R5434:Flvcr1	UTSW	1	190,758,206 (GRCm39)	missense	probably benign	0.07
R5508:Flvcr1	UTSW	1	190,757,656 (GRCm39)	missense	probably damaging	1.00
R5930:Flvcr1	UTSW	1	190,741,748 (GRCm39)	missense	probably damaging	1.00
R6698:Flvcr1	UTSW	1	190,757,929 (GRCm39)	missense	probably damaging	1.00
R6927:Flvcr1	UTSW	1	190,757,861 (GRCm39)	missense	possibly damaging	0.66
R7544:Flvcr1	UTSW	1	190,758,143 (GRCm39)	missense	probably damaging	0.99
R7654:Flvcr1	UTSW	1	190,743,802 (GRCm39)	missense	possibly damaging	0.83
R7853:Flvcr1	UTSW	1	190,757,843 (GRCm39)	missense	probably damaging	1.00
R8185:Flvcr1	UTSW	1	190,747,681 (GRCm39)	missense	probably damaging	1.00
R8387:Flvcr1	UTSW	1	190,743,731 (GRCm39)	critical splice donor site	probably null
R8995:Flvcr1	UTSW	1	190,743,817 (GRCm39)	missense	probably damaging	1.00
R9092:Flvcr1	UTSW	1	190,740,364 (GRCm39)	missense
R9202:Flvcr1	UTSW	1	190,744,351 (GRCm39)	missense	probably benign	0.04
R9448:Flvcr1	UTSW	1	190,744,406 (GRCm39)	missense	possibly damaging	0.65
R9487:Flvcr1	UTSW	1	190,743,829 (GRCm39)	missense	possibly damaging	0.79
X0064:Flvcr1	UTSW	1	190,757,644 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- ACGAGGACATTGTAAGCACAATCGC -3'
(R):5'- TACTCACAGCCCGTATCTGTCAGC -3'

Sequencing Primer
(F):5'- TGTAAGCACAATCGCTGATTAACAC -3'
(R):5'- CGGGCTTACAAACATTGACG -3'

Posted On

2014-01-05