Mutagenetix > Incidental Mutation

Incidental Mutation 'R5969:Cxcr4'

470723

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

044152-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.488) question?

Stock #

R5969 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128515936-128520030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128517584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 24 (N24Y)

Ref Sequence

ENSEMBL: ENSMUSP00000120153 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000052172
AA Change: N26Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053489
Gene: ENSMUSG00000045382
AA Change: N26Y

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 benign
Transcript: ENSMUST00000142893
AA Change: N24Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120153
Gene: ENSMUSG00000045382
AA Change: N24Y

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,258,999 (GRCm39)	Y19D	probably damaging	Het
Abca13	T	A	11: 9,242,214 (GRCm39)	L1359*	probably null	Het
Ahi1	A	T	10: 20,860,292 (GRCm39)	D671V	probably damaging	Het
Ahnak	T	C	19: 8,993,949 (GRCm39)	S5078P	probably damaging	Het
Ankhd1	A	T	18: 36,733,887 (GRCm39)	T584S	probably damaging	Het
Apba2	T	A	7: 64,394,195 (GRCm39)	L568*	probably null	Het
Cenpn	C	A	8: 117,667,276 (GRCm39)	L300I	probably damaging	Het
Cmya5	A	T	13: 93,226,052 (GRCm39)	L3012Q	possibly damaging	Het
Cnnm1	T	C	19: 43,479,911 (GRCm39)	S819P	probably damaging	Het
Cpa6	A	T	1: 10,559,108 (GRCm39)	S87T	probably benign	Het
Crybg2	T	A	4: 133,803,003 (GRCm39)		probably null	Het
Csmd1	T	A	8: 16,121,367 (GRCm39)	T1777S	probably benign	Het
Csmd3	G	T	15: 47,811,386 (GRCm39)	P1235Q	probably damaging	Het
D630003M21Rik	G	T	2: 158,059,628 (GRCm39)	H91N	probably damaging	Het
Ece1	T	C	4: 137,689,051 (GRCm39)		probably null	Het
Edc3	T	C	9: 57,620,711 (GRCm39)	S11P	probably damaging	Het
Eif1ad14	T	C	12: 87,886,248 (GRCm39)	D127G	unknown	Het
Exoc3	G	A	13: 74,320,305 (GRCm39)	Q719*	probably null	Het
Fam13a	A	G	6: 58,942,183 (GRCm39)	M203T	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fhip2a	C	T	19: 57,372,555 (GRCm39)	R602*	probably null	Het
Fxyd2	T	A	9: 45,319,628 (GRCm39)	I30N	probably damaging	Het
Gapt	A	G	13: 110,490,480 (GRCm39)	V61A	probably benign	Het
Glb1l2	C	T	9: 26,692,038 (GRCm39)	A74T	probably damaging	Het
Gpr35	T	C	1: 92,910,942 (GRCm39)	V2A	probably damaging	Het
Gtf3c1	A	G	7: 125,244,848 (GRCm39)	S1729P	possibly damaging	Het
Heatr5a	T	C	12: 52,005,823 (GRCm39)	T51A	probably benign	Het
Kat6b	G	A	14: 21,720,860 (GRCm39)	M1737I	probably damaging	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klk10	A	G	7: 43,434,409 (GRCm39)	Y267C	probably damaging	Het
Lgmn	T	C	12: 102,372,086 (GRCm39)	Y98C	probably damaging	Het
Lyst	A	C	13: 13,862,398 (GRCm39)		probably null	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mfng	A	T	15: 78,648,582 (GRCm39)	V165D	possibly damaging	Het
Mto1	A	G	9: 78,360,187 (GRCm39)	E225G	probably damaging	Het
Notch3	C	A	17: 32,372,858 (GRCm39)	C571F	probably damaging	Het
Nup205	C	T	6: 35,154,513 (GRCm39)		probably benign	Het
Or51b6	T	A	7: 103,556,117 (GRCm39)	I157N	probably damaging	Het
P2ry14	T	A	3: 59,022,579 (GRCm39)	I303F	probably damaging	Het
Pcnx3	T	C	19: 5,735,563 (GRCm39)	D421G	probably damaging	Het
Pdlim4	T	C	11: 53,954,482 (GRCm39)	H75R	possibly damaging	Het
Phf21a	A	T	2: 92,051,956 (GRCm39)	H17L	probably damaging	Het
Ppid	T	A	3: 79,505,024 (GRCm39)	N122K	probably damaging	Het
Ppp4r3a	T	C	12: 101,009,838 (GRCm39)	I613V	probably benign	Het
Prcp	C	T	7: 92,566,974 (GRCm39)	P229S	probably benign	Het
Ralgds	T	C	2: 28,432,426 (GRCm39)	V85A	probably damaging	Het
Rgs22	G	A	15: 36,015,782 (GRCm39)	T1034I	probably benign	Het
Slc4a3	T	C	1: 75,526,623 (GRCm39)	V48A	probably damaging	Het
Snx16	A	T	3: 10,503,217 (GRCm39)	M10K	possibly damaging	Het
Svep1	G	A	4: 58,070,977 (GRCm39)	Q2270*	probably null	Het
Tmem185b	T	G	1: 119,455,193 (GRCm39)	I318S	probably benign	Het
Tnik	C	T	3: 28,675,097 (GRCm39)	R657C	probably damaging	Het
Top3b	T	C	16: 16,701,429 (GRCm39)		probably null	Het
Trim40	C	T	17: 37,193,319 (GRCm39)	R203H	probably benign	Het
Triobp	T	A	15: 78,851,740 (GRCm39)	N631K	probably benign	Het
Ubr3	T	G	2: 69,809,730 (GRCm39)	Y1233*	probably null	Het
Vgll3	A	G	16: 65,636,449 (GRCm39)	D200G	probably damaging	Het
Vmn2r24	G	A	6: 123,755,981 (GRCm39)	E18K	probably benign	Het
Zfp141	C	A	7: 42,138,912 (GRCm39)	R40L	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGTACCAGTCAGCCATGGC -3'
(R):5'- GGAAAGGTTGTGTTAAAACCTGC -3'

Sequencing Primer
(F):5'- GTCAGCCATGGCATCAACTG -3'
(R):5'- CTGCAATCAATACTAGCTTTTTAGGC -3'

Posted On

2017-03-31