Mutagenetix > Incidental Mutation

Incidental Mutation 'R1815:Flvcr1'

202602

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

039843-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1815 (G1)

Quality Score

161

Status

Not validated

Chromosome

Chromosomal Location

190738044-190758355 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 190757577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 238 (N238K)

Ref Sequence

ENSEMBL: ENSMUSP00000141578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085635] [ENSMUST00000191946] [ENSMUST00000192666]

AlphaFold

B2RXV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000085635
AA Change: N238K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000082777
Gene: ENSMUSG00000066595
AA Change: N238K

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

noncoding transcript
Transcript: ENSMUST00000181050

SMART Domains

Protein: ENSMUSP00000138069
Gene: ENSMUSG00000097845

Domain	Start	End	E-Value	Type
low complexity region	97	106	N/A	INTRINSIC
low complexity region	170	188	N/A	INTRINSIC
low complexity region	246	265	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000191946
AA Change: N238K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141578
Gene: ENSMUSG00000066595
AA Change: N238K

Domain	Start	End	E-Value	Type
low complexity region	40	68	N/A	INTRINSIC
Pfam:MFS_1	96	243	2.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192407

Predicted Effect

probably damaging
Transcript: ENSMUST00000192666
AA Change: N196K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141985
Gene: ENSMUSG00000066595
AA Change: N196K

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

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,083,905 (GRCm39)	T492A	probably damaging	Het
Afg3l2	A	T	18: 67,548,643 (GRCm39)	L529*	probably null	Het
Ak9	A	G	10: 41,213,572 (GRCm39)	E259G	probably damaging	Het
Apol11b	T	A	15: 77,519,772 (GRCm39)	I103F	probably damaging	Het
Atp7b	T	C	8: 22,501,667 (GRCm39)	M864V	possibly damaging	Het
Atp8a2	A	G	14: 60,324,073 (GRCm39)	L60P	probably damaging	Het
Begain	T	C	12: 109,000,033 (GRCm39)	Y451C	probably damaging	Het
Bmpr1b	A	T	3: 141,586,124 (GRCm39)	I46N	probably benign	Het
Bms1	T	A	6: 118,360,742 (GRCm39)	K1242M	probably damaging	Het
Calcoco1	A	G	15: 102,622,358 (GRCm39)	L254P	probably damaging	Het
Ccdc112	A	T	18: 46,424,173 (GRCm39)	N188K	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdkal1	A	G	13: 29,901,774 (GRCm39)	V132A	possibly damaging	Het
Cdo1	A	G	18: 46,853,369 (GRCm39)	C130R	probably damaging	Het
Cep295nl	G	T	11: 118,223,474 (GRCm39)	R457S	probably damaging	Het
Cntn1	A	T	15: 92,148,829 (GRCm39)	I359F	probably benign	Het
Csnk1g1	T	C	9: 65,939,606 (GRCm39)	V435A	probably damaging	Het
Csnka2ip	A	G	16: 64,298,855 (GRCm39)	V59A	probably benign	Het
Ddr2	A	T	1: 169,823,170 (GRCm39)	Y371*	probably null	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Dnah2	T	C	11: 69,366,400 (GRCm39)	I1901V	probably damaging	Het
Fanci	T	A	7: 79,088,056 (GRCm39)	I903N	probably damaging	Het
Fastk	T	C	5: 24,646,529 (GRCm39)	Q471R	probably damaging	Het
Gsdmc3	A	T	15: 63,740,965 (GRCm39)	L61H	probably damaging	Het
H2-M10.5	T	A	17: 37,084,836 (GRCm39)	C187S	probably damaging	Het
Hmcn2	T	C	2: 31,283,055 (GRCm39)	I1977T	probably damaging	Het
Itpr2	T	A	6: 146,260,914 (GRCm39)	I905F	probably benign	Het
Jmy	C	T	13: 93,590,585 (GRCm39)	G506D	probably damaging	Het
Klf4	G	T	4: 55,530,977 (GRCm39)	R45S	probably benign	Het
Klhdc7b	A	G	15: 89,271,800 (GRCm39)	E894G	probably damaging	Het
Klra7	T	C	6: 130,201,070 (GRCm39)	I229V	probably benign	Het
Krt35	T	C	11: 99,986,565 (GRCm39)	T150A	probably benign	Het
Krtap20-1	T	C	16: 88,812,337 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,227,896 (GRCm39)	Y1199C	probably damaging	Het
Lmbrd1	T	A	1: 24,724,642 (GRCm39)	N75K	possibly damaging	Het
Lss	T	C	10: 76,388,798 (GRCm39)	S700P	probably damaging	Het
Ltbp1	A	T	17: 75,559,375 (GRCm39)	Q288L	probably benign	Het
Mical2	A	G	7: 112,012,109 (GRCm39)	E653G	probably damaging	Het
Mphosph10	G	T	7: 64,041,918 (GRCm39)	Q9K	probably benign	Het
Muc15	T	A	2: 110,561,603 (GRCm39)	L13Q	probably damaging	Het
Ncf4	A	G	15: 78,134,602 (GRCm39)	D18G	probably benign	Het
Nipsnap1	A	G	11: 4,839,101 (GRCm39)	Y127C	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,317,131 (GRCm39)	P172L	probably damaging	Het
Or8g18	T	C	9: 39,149,286 (GRCm39)	I145V	probably benign	Het
Otud4	T	A	8: 80,366,618 (GRCm39)	Y28*	probably null	Het
Pdcd2l	G	A	7: 33,885,826 (GRCm39)	T286I	probably benign	Het
Pgbd1	A	G	13: 21,607,342 (GRCm39)	V284A	probably damaging	Het
Phlpp2	C	A	8: 110,666,855 (GRCm39)	T1128K	probably damaging	Het
Pik3cb	A	G	9: 98,975,148 (GRCm39)	V244A	possibly damaging	Het
Pld1	A	G	3: 28,163,917 (GRCm39)	I783M	probably benign	Het
Plk5	T	C	10: 80,199,855 (GRCm39)	V454A	probably benign	Het
Prkci	T	C	3: 31,092,644 (GRCm39)	S309P	probably damaging	Het
Prx	A	T	7: 27,216,090 (GRCm39)	D197V	probably damaging	Het
Ptpn5	A	G	7: 46,728,589 (GRCm39)	L537P	probably benign	Het
Rev3l	T	A	10: 39,698,867 (GRCm39)	N1121K	probably benign	Het
Rock2	T	A	12: 17,022,727 (GRCm39)	D1055E	probably benign	Het
Rrp1b	T	C	17: 32,275,785 (GRCm39)	V444A	probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
S1pr2	G	A	9: 20,879,388 (GRCm39)	R147*	probably null	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Smc6	T	C	12: 11,344,602 (GRCm39)		probably null	Het
Srsf11	C	T	3: 157,722,064 (GRCm39)		probably benign	Het
Sstr1	T	C	12: 58,260,264 (GRCm39)	F296L	possibly damaging	Het
Tecrl	T	A	5: 83,427,081 (GRCm39)	I356L	probably benign	Het
Tln2	A	G	9: 67,136,705 (GRCm39)	I2348T	probably damaging	Het
Tmed11	T	A	5: 108,925,291 (GRCm39)	I174L	probably benign	Het
Tmem132a	G	A	19: 10,838,931 (GRCm39)	Q504*	probably null	Het
Unc5c	A	T	3: 141,463,518 (GRCm39)	D213V	probably damaging	Het
Utp25	A	C	1: 192,800,591 (GRCm39)	S410A	probably benign	Het
Vgll4	T	C	6: 114,841,020 (GRCm39)	D92G	probably benign	Het
Vps37a	T	C	8: 40,965,162 (GRCm39)	F5L	probably benign	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zeb1	G	A	18: 5,767,898 (GRCm39)	C803Y	probably damaging	Het
Zmym1	T	C	4: 126,942,814 (GRCm39)	T427A	possibly 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
R1061:Flvcr1	UTSW	1	190,740,370 (GRCm39)	missense	probably benign	0.01
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'- TTACCGCCAGTTTCCAAGC -3'
(R):5'- TGTACATGGTGGCCTACGTG -3'

Sequencing Primer
(F):5'- TCAGTGCTGGCTGGGAATACAC -3'
(R):5'- TCAACTGCCTGGGAGCCTG -3'

Posted On

2014-06-23