Incidental Mutation 'R5199:Cxcr4'
| ID |
400536 |
| 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 |
042775-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.533)
|
| Stock # |
R5199 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
128515936-128520030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128517283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 126
(V126A)
|
| 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: V126A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053489
Gene: ENSMUSG00000045382
AA Change: V126A
| 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: V124A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120153
Gene: ENSMUSG00000045382
AA Change: V124A
| 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 |
0.8016 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (57/57) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
T |
C |
3: 59,843,906 (GRCm39) |
L200P |
probably damaging |
Het |
| Adam1a |
T |
C |
5: 121,659,215 (GRCm39) |
E26G |
probably benign |
Het |
| Adar |
T |
A |
3: 89,653,251 (GRCm39) |
M797K |
probably damaging |
Het |
| Amdhd1 |
A |
T |
10: 93,361,847 (GRCm39) |
C352S |
probably damaging |
Het |
| AW554918 |
C |
A |
18: 25,473,356 (GRCm39) |
R387S |
probably damaging |
Het |
| Cabp1 |
A |
G |
5: 115,324,102 (GRCm39) |
V5A |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,295,853 (GRCm39) |
L387P |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,140,403 (GRCm39) |
H200Q |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,710,581 (GRCm39) |
L1470Q |
probably damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,483,425 (GRCm39) |
D956G |
possibly damaging |
Het |
| Cnot8 |
C |
T |
11: 58,006,100 (GRCm39) |
Q210* |
probably null |
Het |
| Cpne8 |
G |
A |
15: 90,532,812 (GRCm39) |
T65I |
probably benign |
Het |
| Crygn |
A |
G |
5: 24,961,156 (GRCm39) |
V50A |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,921,346 (GRCm39) |
D464G |
probably benign |
Het |
| Dapp1 |
C |
T |
3: 137,687,146 (GRCm39) |
S12N |
probably benign |
Het |
| Dhps |
G |
A |
8: 85,800,035 (GRCm39) |
G162R |
probably damaging |
Het |
| Dsp |
T |
G |
13: 38,376,878 (GRCm39) |
Y1554* |
probably null |
Het |
| Etl4 |
G |
T |
2: 20,748,853 (GRCm39) |
R397L |
probably damaging |
Het |
| Ezh2 |
C |
T |
6: 47,528,659 (GRCm39) |
C291Y |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,231,678 (GRCm39) |
S303G |
probably benign |
Het |
| Gm11444 |
A |
C |
11: 85,738,845 (GRCm39) |
S83A |
unknown |
Het |
| Gpat4 |
A |
G |
8: 23,672,712 (GRCm39) |
V46A |
possibly damaging |
Het |
| Haus6 |
T |
C |
4: 86,501,222 (GRCm39) |
D883G |
possibly damaging |
Het |
| Hinfp |
T |
C |
9: 44,207,689 (GRCm39) |
E439G |
probably benign |
Het |
| Ifna14 |
T |
A |
4: 88,489,599 (GRCm39) |
Y146F |
probably damaging |
Het |
| Igkv3-3 |
A |
T |
6: 70,664,488 (GRCm39) |
Y110F |
probably damaging |
Het |
| Kansl2-ps |
A |
G |
7: 72,322,942 (GRCm39) |
|
noncoding transcript |
Het |
| Klrh1 |
T |
A |
6: 129,752,781 (GRCm39) |
Y8F |
possibly damaging |
Het |
| Mcmdc2 |
T |
C |
1: 9,990,660 (GRCm39) |
V279A |
probably benign |
Het |
| Mug2 |
T |
A |
6: 122,017,619 (GRCm39) |
V452D |
probably benign |
Het |
| Ndufb3 |
C |
G |
1: 58,630,281 (GRCm39) |
|
probably benign |
Het |
| Oas1d |
G |
T |
5: 121,057,208 (GRCm39) |
K271N |
probably benign |
Het |
| Or4c110 |
T |
A |
2: 88,832,107 (GRCm39) |
H175L |
possibly damaging |
Het |
| Or5ac21 |
T |
A |
16: 59,124,103 (GRCm39) |
F196I |
probably benign |
Het |
| Or9g3 |
A |
G |
2: 85,590,558 (GRCm39) |
L54P |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,254,378 (GRCm39) |
H817L |
probably benign |
Het |
| Per3 |
G |
T |
4: 151,097,352 (GRCm39) |
S724R |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,101,124 (GRCm39) |
V464E |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,803,272 (GRCm39) |
E38G |
probably benign |
Het |
| Qtrt2 |
T |
C |
16: 43,687,788 (GRCm39) |
N264S |
probably benign |
Het |
| Ranbp2 |
G |
A |
10: 58,300,265 (GRCm39) |
R557H |
probably benign |
Het |
| Rptor |
T |
A |
11: 119,494,642 (GRCm39) |
S3T |
probably benign |
Het |
| Saxo1 |
T |
A |
4: 86,406,019 (GRCm39) |
Y60F |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,985,564 (GRCm39) |
V30A |
probably benign |
Het |
| Tmem245 |
G |
A |
4: 56,925,149 (GRCm39) |
S324L |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,223,871 (GRCm39) |
|
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,589,636 (GRCm39) |
T382A |
possibly damaging |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,814 (GRCm39) |
L214F |
probably benign |
Het |
| Vmn2r82 |
G |
A |
10: 79,231,921 (GRCm39) |
C640Y |
probably damaging |
Het |
| Vsx2 |
A |
G |
12: 84,639,984 (GRCm39) |
D281G |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,820,013 (GRCm39) |
C1017S |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACAGATGTACCTGTCATCCC -3'
(R):5'- TGATCCTGGTCATGGGTTACC -3'
Sequencing Primer
(F):5'- CTGACTGATGTCCCCCTGG -3'
(R):5'- TGGGTTACCAGAAGAAGCTAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation