Mutagenetix > Incidental Mutation

Incidental Mutation 'R0417:Flvcr1'

40363

Institutional Source

Beutler Lab

Gene Symbol

Flvcr1

Ensembl Gene

ENSMUSG00000066595

Gene Name

feline leukemia virus subgroup C cellular receptor 1

Synonyms

Mfsd7b, 9630055N22Rik

MMRRC Submission

038619-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0417 (G1)

Quality Score

168

Status

Not validated

Chromosome

Chromosomal Location

191005847-191026158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 191011219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 466 (M466K)

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: M466K

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000082777
Gene: ENSMUSG00000066595
AA Change: M466K

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700027J19Rik	A	G	7: 4,151,483 (GRCm38)	L102P	probably damaging	Het
1700030K09Rik	A	G	8: 72,445,400 (GRCm38)	K217R	probably damaging	Het
1810024B03Rik	A	G	2: 127,186,944 (GRCm38)	Y112H	probably damaging	Het
A430078G23Rik	T	C	8: 3,388,957 (GRCm38)		probably benign	Het
Acot2	T	C	12: 83,990,613 (GRCm38)	Y234H	probably benign	Het
Alox12e	C	T	11: 70,321,865 (GRCm38)	V53I	probably benign	Het
Ankrd50	T	C	3: 38,456,361 (GRCm38)	H619R	probably damaging	Het
Arfgef3	A	T	10: 18,603,511 (GRCm38)	L1452Q	probably damaging	Het
Arhgap42	T	C	9: 9,180,033 (GRCm38)	S82G	possibly damaging	Het
Bicra	C	A	7: 15,972,322 (GRCm38)	R1398L	probably damaging	Het
Boc	T	C	16: 44,520,234 (GRCm38)	T118A	probably benign	Het
Btnl9	A	G	11: 49,175,595 (GRCm38)	Y381H	probably damaging	Het
Cbln3	T	G	14: 55,884,129 (GRCm38)	E20A	probably benign	Het
Csrnp3	A	G	2: 66,019,543 (GRCm38)	Y171C	probably benign	Het
Cyp2d9	A	T	15: 82,455,951 (GRCm38)	I181F	probably damaging	Het
Cyp7b1	T	A	3: 18,096,691 (GRCm38)	T295S	probably damaging	Het
Dbn1	C	T	13: 55,474,916 (GRCm38)	E585K	probably damaging	Het
Dok1	A	T	6: 83,031,569 (GRCm38)	D377E	probably damaging	Het
Eed	A	T	7: 89,971,552 (GRCm38)	Y87*	probably null	Het
Entpd3	T	C	9: 120,557,421 (GRCm38)	V156A	probably damaging	Het
Exo5	T	A	4: 120,922,072 (GRCm38)	T199S	probably damaging	Het
Extl2	T	C	3: 116,024,357 (GRCm38)	I106T	probably benign	Het
Ezh2	A	G	6: 47,551,726 (GRCm38)	C291R	probably benign	Het
Fras1	G	T	5: 96,691,372 (GRCm38)	M1583I	probably benign	Het
Fzd9	G	T	5: 135,249,619 (GRCm38)	R471S	probably damaging	Het
Galr1	A	T	18: 82,405,540 (GRCm38)	F204Y	probably damaging	Het
Gm38394	A	T	1: 133,658,538 (GRCm38)	S354T	probably benign	Het
Gna11	A	T	10: 81,530,904 (GRCm38)	I324N	probably damaging	Het
Gucy1a2	A	G	9: 3,759,484 (GRCm38)	E430G	possibly damaging	Het
Hhatl	C	T	9: 121,788,762 (GRCm38)	A254T	probably benign	Het
Ikzf1	A	C	11: 11,769,352 (GRCm38)	N353T	probably benign	Het
Il7	T	A	3: 7,576,027 (GRCm38)	T110S	probably damaging	Het
Keg1	A	G	19: 12,711,060 (GRCm38)	N53D	probably damaging	Het
Klhl21	T	C	4: 152,015,507 (GRCm38)	I558T	probably damaging	Het
Lca5l	G	A	16: 96,162,653 (GRCm38)	T357M	probably damaging	Het
Lrba	T	C	3: 86,715,654 (GRCm38)	S2448P	probably damaging	Het
Map3k6	T	A	4: 133,248,082 (GRCm38)	Y709*	probably null	Het
Megf6	A	G	4: 154,267,967 (GRCm38)	E1261G	probably benign	Het
Mettl3	C	T	14: 52,296,698 (GRCm38)	G473D	probably damaging	Het
Mga	A	G	2: 119,902,790 (GRCm38)	I40V	probably damaging	Het
Mmp13	T	A	9: 7,276,602 (GRCm38)	D232E	probably benign	Het
Nampt	T	C	12: 32,833,101 (GRCm38)	V95A	probably benign	Het
Nbeal1	T	C	1: 60,247,734 (GRCm38)	V905A	probably benign	Het
Nomo1	A	T	7: 46,068,698 (GRCm38)	E840V	possibly damaging	Het
Nprl2	A	T	9: 107,543,298 (GRCm38)	I101F	probably damaging	Het
Nup160	A	T	2: 90,735,427 (GRCm38)	I1378F	possibly damaging	Het
Ogdhl	T	C	14: 32,326,979 (GRCm38)	S69P	probably damaging	Het
Or2y17	T	A	11: 49,340,673 (GRCm38)	I47N	possibly damaging	Het
Or4a68	C	A	2: 89,440,175 (GRCm38)	V35L	possibly damaging	Het
Or4k77	A	G	2: 111,369,105 (GRCm38)	S158G	possibly damaging	Het
Or5be3	A	T	2: 87,033,445 (GRCm38)	Y259N	probably damaging	Het
Or8b12i	G	A	9: 20,171,214 (GRCm38)	A119V	probably damaging	Het
Or8c16	A	G	9: 38,219,455 (GRCm38)	I211V	probably benign	Het
Or8c8	T	C	9: 38,253,864 (GRCm38)	F149S	probably benign	Het
Osbpl3	C	T	6: 50,348,018 (GRCm38)	V167I	probably benign	Het
Pclo	T	A	5: 14,713,022 (GRCm38)	H3836Q	unknown	Het
Prkcg	A	T	7: 3,304,304 (GRCm38)		probably null	Het
Ror1	A	T	4: 100,412,000 (GRCm38)	H345L	possibly damaging	Het
Slc36a2	C	T	11: 55,181,544 (GRCm38)		probably null	Het
Slc40a1	G	A	1: 45,911,374 (GRCm38)	P306L	possibly damaging	Het
Slc9a8	C	A	2: 167,457,344 (GRCm38)	T239K	probably benign	Het
Snapc3	A	G	4: 83,450,162 (GRCm38)	I299V	probably benign	Het
Sp3	G	A	2: 72,971,501 (GRCm38)	A56V	possibly damaging	Het
Spag17	T	A	3: 100,065,554 (GRCm38)	S1361T	probably benign	Het
Sptbn2	A	G	19: 4,737,926 (GRCm38)	T978A	probably benign	Het
Stom	C	A	2: 35,321,632 (GRCm38)	V126F	probably damaging	Het
Stpg2	A	G	3: 139,218,321 (GRCm38)	T162A	probably damaging	Het
Stxbp6	G	A	12: 44,902,957 (GRCm38)	T63M	probably damaging	Het
Tatdn1	A	C	15: 58,921,350 (GRCm38)	I69S	probably benign	Het
Tbata	A	T	10: 61,180,339 (GRCm38)	D198V	probably damaging	Het
Tbc1d5	T	C	17: 50,756,705 (GRCm38)	I638V	probably benign	Het
Tomm70a	A	G	16: 57,149,903 (GRCm38)	D548G	probably benign	Het
Ust	A	G	10: 8,245,936 (GRCm38)	F303L	probably damaging	Het
Vps13d	A	G	4: 144,976,560 (GRCm38)	S4306P	probably benign	Het
Zfp691	A	G	4: 119,170,496 (GRCm38)	S180P	possibly damaging	Het

Other mutations in Flvcr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Flvcr1	APN	1	191,015,489 (GRCm38)	nonsense	probably null
IGL01089:Flvcr1	APN	1	191,013,390 (GRCm38)	missense	probably damaging	0.98
IGL02572:Flvcr1	APN	1	191,025,646 (GRCm38)	missense	probably damaging	1.00
IGL03248:Flvcr1	APN	1	191,025,742 (GRCm38)	missense	probably damaging	1.00
R0009:Flvcr1	UTSW	1	191,008,191 (GRCm38)	missense	probably benign
R0122:Flvcr1	UTSW	1	191,021,226 (GRCm38)	missense	possibly damaging	0.79
R0363:Flvcr1	UTSW	1	191,012,254 (GRCm38)	splice site	probably benign
R0718:Flvcr1	UTSW	1	191,025,582 (GRCm38)	missense	probably damaging	1.00
R1061:Flvcr1	UTSW	1	191,008,173 (GRCm38)	missense	probably benign	0.01
R1815:Flvcr1	UTSW	1	191,025,380 (GRCm38)	missense	probably damaging	1.00
R2029:Flvcr1	UTSW	1	191,021,156 (GRCm38)	missense	probably benign	0.01
R4590:Flvcr1	UTSW	1	191,012,146 (GRCm38)	missense	probably benign	0.05
R4766:Flvcr1	UTSW	1	191,021,106 (GRCm38)	missense	probably benign	0.00
R4889:Flvcr1	UTSW	1	191,025,567 (GRCm38)	missense	probably damaging	1.00
R4976:Flvcr1	UTSW	1	191,025,495 (GRCm38)	missense	probably damaging	1.00
R5434:Flvcr1	UTSW	1	191,026,009 (GRCm38)	missense	probably benign	0.07
R5508:Flvcr1	UTSW	1	191,025,459 (GRCm38)	missense	probably damaging	1.00
R5930:Flvcr1	UTSW	1	191,009,551 (GRCm38)	missense	probably damaging	1.00
R6698:Flvcr1	UTSW	1	191,025,732 (GRCm38)	missense	probably damaging	1.00
R6927:Flvcr1	UTSW	1	191,025,664 (GRCm38)	missense	possibly damaging	0.66
R7544:Flvcr1	UTSW	1	191,025,946 (GRCm38)	missense	probably damaging	0.99
R7654:Flvcr1	UTSW	1	191,011,605 (GRCm38)	missense	possibly damaging	0.83
R7853:Flvcr1	UTSW	1	191,025,646 (GRCm38)	missense	probably damaging	1.00
R8185:Flvcr1	UTSW	1	191,015,484 (GRCm38)	missense	probably damaging	1.00
R8387:Flvcr1	UTSW	1	191,011,534 (GRCm38)	critical splice donor site	probably null
R8995:Flvcr1	UTSW	1	191,011,620 (GRCm38)	missense	probably damaging	1.00
R9092:Flvcr1	UTSW	1	191,008,167 (GRCm38)	missense
R9202:Flvcr1	UTSW	1	191,012,154 (GRCm38)	missense	probably benign	0.04
R9448:Flvcr1	UTSW	1	191,012,209 (GRCm38)	missense	possibly damaging	0.65
R9487:Flvcr1	UTSW	1	191,011,632 (GRCm38)	missense	possibly damaging	0.79
X0064:Flvcr1	UTSW	1	191,025,447 (GRCm38)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AGTCAGGTCAAGCTCACTGCTCAC -3'
(R):5'- AGGCCCTCCAAAGATCCTTTTGATG -3'

Sequencing Primer
(F):5'- agccatctcaccagccc -3'
(R):5'- GTGTTGTTCCTCAGAACTATAACAAG -3'

Posted On

2013-05-23