Mutagenetix > Incidental Mutation

Incidental Mutation 'R7715:Cxcr4'

594827

Institutional Source

Beutler Lab

Gene Symbol

Cxcr4

Ensembl Gene

ENSMUSG00000045382

Gene Name

C-X-C motif chemokine receptor 4

Synonyms

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

MMRRC Submission

045773-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.533) question?

Stock #

R7715 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128515936-128520030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 128517479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 61 (V61M)

Ref Sequence

ENSEMBL: ENSMUSP00000053489 (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: V61M

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

SMART Domains

Protein: ENSMUSP00000053489
Gene: ENSMUSG00000045382
AA Change: V61M

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: V59M

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

SMART Domains

Protein: ENSMUSP00000120153
Gene: ENSMUSG00000045382
AA Change: V59M

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (67/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,221,659 (GRCm39)	F57L	probably benign	Het
Agl	C	T	3: 116,551,905 (GRCm39)	R563Q		Het
Ahctf1	A	G	1: 179,598,413 (GRCm39)	M919T	probably benign	Het
Ano4	A	T	10: 88,831,173 (GRCm39)	N483K	probably damaging	Het
Armt1	A	G	10: 4,400,751 (GRCm39)	K166R	probably benign	Het
Asgr2	T	C	11: 69,987,721 (GRCm39)	V73A	probably benign	Het
Atp6v0a2	A	C	5: 124,791,262 (GRCm39)	T564P	probably damaging	Het
B3gntl1	T	C	11: 121,530,622 (GRCm39)	T150A	possibly damaging	Het
Bach1	A	G	16: 87,516,859 (GRCm39)	I467V	possibly damaging	Het
Bicd1	A	G	6: 149,414,471 (GRCm39)	K395E	probably benign	Het
Cadps	G	A	14: 12,457,762 (GRCm38)	P1040S	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,862 (GRCm39)		probably null	Het
Canx	A	G	11: 50,201,631 (GRCm39)	S80P	probably benign	Het
Ccdc149	T	A	5: 52,561,533 (GRCm39)		probably null	Het
Cd34	A	T	1: 194,631,624 (GRCm39)	N87Y	probably damaging	Het
Cdh11	T	A	8: 103,391,346 (GRCm39)	I297F	possibly damaging	Het
Cfap251	A	G	5: 123,400,197 (GRCm39)	N439D	probably damaging	Het
Cip2a	A	T	16: 48,834,347 (GRCm39)	Q643L	probably damaging	Het
Col14a1	A	G	15: 55,351,379 (GRCm39)	I1569V	unknown	Het
Cyp20a1	G	A	1: 60,411,764 (GRCm39)	V271M	probably benign	Het
Cyp2b23	T	C	7: 26,381,120 (GRCm39)	Y79C	probably benign	Het
Daam1	A	G	12: 72,035,675 (GRCm39)	K957E	probably benign	Het
Dip2c	A	G	13: 9,664,427 (GRCm39)	K947E	probably damaging	Het
Efcab12	T	C	6: 115,800,504 (GRCm39)	K173R	possibly damaging	Het
Emc1	C	T	4: 139,098,934 (GRCm39)	R806C	probably damaging	Het
Epg5	G	A	18: 78,011,801 (GRCm39)	R816Q	probably damaging	Het
Faf1	G	T	4: 109,568,011 (GRCm39)	D24Y	probably damaging	Het
Fchsd1	A	T	18: 38,099,695 (GRCm39)		probably null	Het
Foxp1	T	C	6: 98,922,621 (GRCm39)	T404A	unknown	Het
Fra10ac1	T	C	19: 38,178,286 (GRCm39)	E299G	probably damaging	Het
Gon4l	A	G	3: 88,815,313 (GRCm39)	T1959A	probably benign	Het
Gpam	A	C	19: 55,077,353 (GRCm39)	V146G	probably benign	Het
Hephl1	T	A	9: 14,972,081 (GRCm39)	D953V	probably benign	Het
Kcnc2	G	T	10: 112,107,845 (GRCm39)	E79*	probably null	Het
Kcnj12	T	A	11: 60,957,778 (GRCm39)		probably null	Het
Llgl2	A	T	11: 115,740,554 (GRCm39)	T417S	probably benign	Het
Lrrc17	A	T	5: 21,766,078 (GRCm39)	N187Y	probably damaging	Het
Macc1	C	T	12: 119,409,991 (GRCm39)	A253V	possibly damaging	Het
Mark1	A	G	1: 184,639,431 (GRCm39)	S529P	probably damaging	Het
Mfsd6l	T	C	11: 68,448,376 (GRCm39)	L409P	probably damaging	Het
Nek1	A	G	8: 61,459,794 (GRCm39)	E34G	probably damaging	Het
Nlrp3	T	A	11: 59,433,829 (GRCm39)		probably null	Het
Obsl1	A	T	1: 75,478,680 (GRCm39)	V686D	probably damaging	Het
Or2l5	C	T	16: 19,333,480 (GRCm39)	R302K	probably benign	Het
Or55b10	T	A	7: 102,143,668 (GRCm39)	M105L	possibly damaging	Het
Or7h8	G	A	9: 20,123,731 (GRCm39)	G29R	probably damaging	Het
Or7h8	G	A	9: 20,123,732 (GRCm39)	G29E	probably benign	Het
Or8c15	T	A	9: 38,120,775 (GRCm39)	M140K	probably benign	Het
Or8g18	A	T	9: 39,149,174 (GRCm39)	L182H	probably damaging	Het
Ostm1	G	A	10: 42,559,183 (GRCm39)	G148R	probably benign	Het
Oxsr1	A	G	9: 119,071,822 (GRCm39)	S470P	probably damaging	Het
Pacs1	C	T	19: 5,191,709 (GRCm39)	M709I	probably benign	Het
Pan2	A	G	10: 128,153,592 (GRCm39)	M963V	probably benign	Het
Pds5a	A	G	5: 65,795,904 (GRCm39)	L662P	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Sh2b2	T	C	5: 136,247,889 (GRCm39)	N554S	probably benign	Het
Sh3gl2	T	A	4: 85,317,077 (GRCm39)		probably null	Het
Slc24a4	A	G	12: 102,185,219 (GRCm39)	M93V	possibly damaging	Het
Sohlh1	A	G	2: 25,734,640 (GRCm39)	S218P	possibly damaging	Het
Spast	T	A	17: 74,675,921 (GRCm39)	N321K	probably benign	Het
Srcap	T	G	7: 127,148,460 (GRCm39)	I1936S	probably damaging	Het
Themis	G	A	10: 28,739,305 (GRCm39)	V592I	probably benign	Het
Tnfrsf1a	C	T	6: 125,338,377 (GRCm39)	T296I	possibly damaging	Het
Ttk	A	G	9: 83,747,206 (GRCm39)	T682A	probably benign	Het
Virma	C	T	4: 11,549,682 (GRCm39)	R1807W	probably damaging	Het
Virma	A	G	4: 11,513,016 (GRCm39)		probably null	Het
Vmn2r101	T	A	17: 19,832,177 (GRCm39)	D724E	probably damaging	Het
Vmn2r11	A	G	5: 109,195,307 (GRCm39)	V673A	probably damaging	Het
Wbp4	C	T	14: 79,703,734 (GRCm39)	S271N	probably benign	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
IGL01343:Cxcr4	APN	1	128,517,292 (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
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

Predicted Primers

PCR Primer
(F):5'- GAACGCTGCTGTAGAGGTTG -3'
(R):5'- CTGACCTTGAAGTGACGTTGTC -3'

Sequencing Primer
(F):5'- TTGACAGTGTAGATGATATGGACAGC -3'
(R):5'- AAGTGACGTTGTCTGTCCC -3'

Posted On

2019-11-12