Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01343:Cxcr4'

74937

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cxcr4

Ensembl Gene

ENSMUSG00000045382

Gene Name

C-X-C motif chemokine receptor 4

Synonyms

Cmkar4, PB-CKR, fusin, b2b220Clo, CD184, Sdf1r

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.533) question?

Stock #

IGL01343

Quality Score

Status

Chromosome

Chromosomal Location

128515936-128520030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128517292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 121 (Y121C)

Ref Sequence

ENSEMBL: ENSMUSP00000120153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052172] [ENSMUST00000142893]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000052172
AA Change: Y123C

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

SMART Domains

Protein: ENSMUSP00000053489
Gene: ENSMUSG00000045382
AA Change: Y123C

Domain	Start	End	E-Value	Type
Pfam:CXCR4_N	8	40	2.1e-18	PFAM
Pfam:7TM_GPCR_Srsx	51	323	2.5e-7	PFAM
Pfam:7tm_1	57	309	2.4e-52	PFAM
low complexity region	344	359	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000142893
AA Change: Y121C

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

SMART Domains

Protein: ENSMUSP00000120153
Gene: ENSMUSG00000045382
AA Change: Y121C

Domain	Start	End	E-Value	Type
Pfam:CXCR4_N	6	38	1.5e-24	PFAM
Pfam:7TM_GPCR_Srsx	49	270	2.4e-8	PFAM
Pfam:7tm_1	55	272	1.9e-51	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants exhibit altered viability, lungs, kidneys, immune system, hematopoiesis, myelopoiesis, cerebellar foliation, neuronal cell layer development, susceptibility to diet-induced obesity and adaptive thermogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,033,416 (GRCm39)		probably benign	Het
Adgrf1	T	A	17: 43,624,086 (GRCm39)	F835L	probably null	Het
Akp3	G	T	1: 87,054,858 (GRCm39)		probably benign	Het
BC106179	G	T	16: 23,043,037 (GRCm39)		probably benign	Het
Bysl	C	A	17: 47,912,814 (GRCm39)	M325I	probably benign	Het
Cip2a	A	G	16: 48,833,551 (GRCm39)	I551V	probably damaging	Het
Crnn	A	G	3: 93,055,633 (GRCm39)	R140G	probably benign	Het
Cts8	T	C	13: 61,397,010 (GRCm39)		probably benign	Het
Ddr2	T	C	1: 169,812,150 (GRCm39)	T691A	probably benign	Het
Dhx30	A	T	9: 109,915,313 (GRCm39)	F782I	probably benign	Het
Efcab5	C	T	11: 77,020,756 (GRCm39)	G655D	probably damaging	Het
Eif2ak4	G	A	2: 118,252,570 (GRCm39)	V381I	probably benign	Het
Enpp3	A	T	10: 24,681,820 (GRCm39)	Y295*	probably null	Het
Fbxo28	T	C	1: 182,144,577 (GRCm39)	E329G	probably damaging	Het
Fcgbpl1	A	G	7: 27,850,127 (GRCm39)	Q1191R	probably benign	Het
Fmnl2	T	A	2: 53,013,557 (GRCm39)	V972D	probably damaging	Het
Fmr1	A	G	X: 67,731,901 (GRCm39)	D22G	probably damaging	Het
Fsip2	A	G	2: 82,830,163 (GRCm39)	T6886A	possibly damaging	Het
Gadl1	A	G	9: 115,903,180 (GRCm39)	*503W	probably null	Het
Gpc6	A	T	14: 117,424,224 (GRCm39)	K104I	possibly damaging	Het
Hecw2	T	A	1: 53,866,135 (GRCm39)	T1509S	probably damaging	Het
Lonp1	A	G	17: 56,922,586 (GRCm39)	L680P	possibly damaging	Het
Lrrc66	A	T	5: 73,765,806 (GRCm39)	N412K	probably damaging	Het
Marco	C	T	1: 120,422,469 (GRCm39)		probably null	Het
Mdga2	T	C	12: 66,769,883 (GRCm39)	T206A	probably damaging	Het
Mogat2	C	A	7: 98,881,775 (GRCm39)	A54S	possibly damaging	Het
Myh15	T	A	16: 48,976,040 (GRCm39)	D1369E	probably benign	Het
Nckap1	A	T	2: 80,350,186 (GRCm39)	S840T	possibly damaging	Het
Ncor1	C	T	11: 62,216,312 (GRCm39)		probably null	Het
Nfrkb	C	A	9: 31,300,250 (GRCm39)	L14I	probably damaging	Het
Notch1	C	A	2: 26,362,917 (GRCm39)	A950S	probably benign	Het
Notch3	T	C	17: 32,362,410 (GRCm39)	E1405G	probably benign	Het
Nsd2	C	A	5: 34,000,922 (GRCm39)	D146E	probably damaging	Het
Oc90	T	C	15: 65,761,440 (GRCm39)	T193A	probably benign	Het
Or7c70	A	T	10: 78,683,431 (GRCm39)	V106E	probably damaging	Het
Or8g50	C	A	9: 39,649,011 (GRCm39)	A300D	probably damaging	Het
Or8k40	T	A	2: 86,584,843 (GRCm39)	K80*	probably null	Het
Orc2	A	T	1: 58,532,014 (GRCm39)		probably null	Het
Pacsin2	T	C	15: 83,270,887 (GRCm39)	H254R	probably damaging	Het
Pif1	T	A	9: 65,496,844 (GRCm39)	M319K	probably damaging	Het
Prag1	G	A	8: 36,570,200 (GRCm39)	R261H	possibly damaging	Het
Ptprq	G	A	10: 107,474,700 (GRCm39)	T1335I	probably damaging	Het
Ryr3	A	G	2: 112,490,399 (GRCm39)	Y3812H	probably damaging	Het
Sgo2b	G	A	8: 64,380,349 (GRCm39)	Q828*	probably null	Het
Skint6	A	G	4: 113,140,823 (GRCm39)	V6A	probably benign	Het
Slc16a13	A	G	11: 70,111,340 (GRCm39)	I55T	probably damaging	Het
Slc22a3	A	T	17: 12,644,516 (GRCm39)	W490R	probably damaging	Het
Speer4b	G	T	5: 27,702,881 (GRCm39)	H208N	probably benign	Het
Tas2r124	T	C	6: 132,732,378 (GRCm39)	L229S	probably damaging	Het
Tlr4	T	C	4: 66,752,124 (GRCm39)		probably benign	Het
Tmed1	G	T	9: 21,421,369 (GRCm39)	T35K	probably damaging	Het
Tubgcp5	C	A	7: 55,445,779 (GRCm39)		probably benign	Het
Ugt2b34	A	G	5: 87,052,247 (GRCm39)	S250P	possibly damaging	Het
Zfp516	A	G	18: 83,011,221 (GRCm39)	T1085A	probably damaging	Het
Znfx1	T	C	2: 166,879,283 (GRCm39)	I1698V	probably benign	Het
Zswim8	G	T	14: 20,763,409 (GRCm39)	W385C	probably damaging	Het

Other mutations in Cxcr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Cxcr4	APN	1	128,516,792 (GRCm39)	missense	probably damaging	1.00
IGL03202:Cxcr4	APN	1	128,516,641 (GRCm39)	missense	probably damaging	1.00
Rubber_ducky	UTSW	1	128,517,187 (GRCm39)	missense	probably damaging	1.00
R1728:Cxcr4	UTSW	1	128,517,014 (GRCm39)	missense	probably benign	0.00
R1729:Cxcr4	UTSW	1	128,517,014 (GRCm39)	missense	probably benign	0.00
R1730:Cxcr4	UTSW	1	128,517,014 (GRCm39)	missense	probably benign	0.00
R1739:Cxcr4	UTSW	1	128,517,014 (GRCm39)	missense	probably benign	0.00
R1762:Cxcr4	UTSW	1	128,517,014 (GRCm39)	missense	probably benign	0.00
R1783:Cxcr4	UTSW	1	128,517,014 (GRCm39)	missense	probably benign	0.00
R1784:Cxcr4	UTSW	1	128,517,014 (GRCm39)	missense	probably benign	0.00
R1785:Cxcr4	UTSW	1	128,517,014 (GRCm39)	missense	probably benign	0.00
R2356:Cxcr4	UTSW	1	128,517,251 (GRCm39)	missense	probably damaging	1.00
R5199:Cxcr4	UTSW	1	128,517,283 (GRCm39)	missense	probably damaging	1.00
R5472:Cxcr4	UTSW	1	128,517,362 (GRCm39)	missense	probably damaging	1.00
R5969:Cxcr4	UTSW	1	128,517,584 (GRCm39)	missense	probably benign
R6124:Cxcr4	UTSW	1	128,517,397 (GRCm39)	missense	probably damaging	1.00
R6211:Cxcr4	UTSW	1	128,517,187 (GRCm39)	missense	probably damaging	1.00
R6228:Cxcr4	UTSW	1	128,519,920 (GRCm39)	splice site	probably null
R6349:Cxcr4	UTSW	1	128,517,014 (GRCm39)	missense	possibly damaging	0.78
R6458:Cxcr4	UTSW	1	128,516,831 (GRCm39)	missense	probably benign	0.05
R6949:Cxcr4	UTSW	1	128,517,352 (GRCm39)	missense	probably benign
R7230:Cxcr4	UTSW	1	128,517,527 (GRCm39)	missense	probably damaging	0.98
R7715:Cxcr4	UTSW	1	128,517,479 (GRCm39)	missense	probably damaging	1.00
R8040:Cxcr4	UTSW	1	128,517,535 (GRCm39)	missense	probably damaging	1.00
R8996:Cxcr4	UTSW	1	128,517,538 (GRCm39)	missense	possibly damaging	0.56
R9789:Cxcr4	UTSW	1	128,516,884 (GRCm39)	nonsense	probably null

Posted On

2013-10-07