Incidental Mutation 'R6219:Ccr10'
| ID |
503908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccr10
|
| Ensembl Gene |
ENSMUSG00000044052 |
| Gene Name |
C-C motif chemokine receptor 10 |
| Synonyms |
GPR2, Cmkbr9, CCR10 |
| MMRRC Submission |
044351-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6219 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101063824-101066269 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101065375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 52
(A52T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043397]
[ENSMUST00000062759]
[ENSMUST00000103109]
[ENSMUST00000123864]
[ENSMUST00000129895]
[ENSMUST00000164474]
|
| AlphaFold |
Q9JL21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043397
|
| SMART Domains |
Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
PH
|
96 |
201 |
1.9e-5 |
SMART |
|
low complexity region
|
241 |
251 |
N/A |
INTRINSIC |
|
Pfam:MyTH4
|
285 |
398 |
4.2e-21 |
PFAM |
|
B41
|
400 |
664 |
2.91e-4 |
SMART |
|
low complexity region
|
750 |
766 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062759
AA Change: A52T
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062588
Gene: ENSMUSG00000044052
AA Change: A52T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
58 |
310 |
4.8e-43 |
PFAM |
|
low complexity region
|
313 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
349 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103109
|
| SMART Domains |
Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
FA58C
|
25 |
169 |
7.49e-36 |
SMART |
|
LamG
|
196 |
333 |
2.86e-32 |
SMART |
|
LamG
|
382 |
516 |
3.49e-27 |
SMART |
|
EGF
|
544 |
578 |
2.28e0 |
SMART |
|
Blast:FBG
|
580 |
777 |
1e-133 |
BLAST |
|
LamG
|
806 |
940 |
1.95e-25 |
SMART |
|
EGF_like
|
961 |
997 |
6.03e1 |
SMART |
|
low complexity region
|
1032 |
1044 |
N/A |
INTRINSIC |
|
low complexity region
|
1047 |
1058 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1078 |
N/A |
INTRINSIC |
|
LamG
|
1081 |
1219 |
2.59e-30 |
SMART |
|
4.1m
|
1305 |
1323 |
7.85e-7 |
SMART |
|
low complexity region
|
1333 |
1370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123864
|
| SMART Domains |
Protein: ENSMUSP00000120865
Gene: ENSMUSG00000035172
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
95 |
200 |
1.9e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129895
|
| SMART Domains |
Protein: ENSMUSP00000137841
Gene: ENSMUSG00000035172
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
PH
|
96 |
201 |
1.9e-5 |
SMART |
|
low complexity region
|
241 |
251 |
N/A |
INTRINSIC |
|
Pfam:MyTH4
|
281 |
399 |
2.7e-16 |
PFAM |
|
B41
|
400 |
664 |
5.17e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138942
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164474
|
| SMART Domains |
Protein: ENSMUSP00000127088
Gene: ENSMUSG00000035172
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
PH
|
96 |
201 |
1.9e-5 |
SMART |
|
low complexity region
|
241 |
251 |
N/A |
INTRINSIC |
|
Pfam:MyTH4
|
281 |
399 |
3.3e-16 |
PFAM |
|
B41
|
400 |
661 |
6.14e-4 |
SMART |
|
low complexity region
|
747 |
763 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7250 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the receptor for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for null mutation are viable and fertile, without any detectable neurological abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030445D17Rik |
T |
C |
4: 136,190,059 (GRCm39) |
S147P |
unknown |
Het |
| Acat2 |
T |
C |
17: 13,179,604 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
A |
G |
6: 125,792,553 (GRCm39) |
D349G |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ccnf |
C |
A |
17: 24,445,678 (GRCm39) |
E523* |
probably null |
Het |
| Cdc14b |
C |
T |
13: 64,353,338 (GRCm39) |
|
probably benign |
Het |
| Cirop |
G |
T |
14: 54,933,116 (GRCm39) |
Q356K |
noncoding transcript |
Het |
| Cmya5 |
T |
C |
13: 93,230,951 (GRCm39) |
E1379G |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,558,189 (GRCm39) |
D822G |
possibly damaging |
Het |
| Cyp4a29 |
A |
C |
4: 115,106,927 (GRCm39) |
T195P |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,035,434 (GRCm39) |
T2283S |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,272,745 (GRCm39) |
D2291G |
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,872,080 (GRCm39) |
L493F |
probably damaging |
Het |
| Fbxw7 |
G |
A |
3: 84,876,520 (GRCm39) |
G227D |
probably damaging |
Het |
| Fmo2 |
A |
T |
1: 162,708,085 (GRCm39) |
V350D |
probably damaging |
Het |
| Glis1 |
C |
T |
4: 107,489,102 (GRCm39) |
P487S |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm35315 |
G |
T |
5: 110,226,410 (GRCm39) |
T343K |
probably benign |
Het |
| Gpr141 |
A |
G |
13: 19,936,697 (GRCm39) |
I26T |
probably benign |
Het |
| Hectd4 |
T |
G |
5: 121,446,941 (GRCm39) |
V311G |
possibly damaging |
Het |
| Ino80d |
C |
T |
1: 63,118,206 (GRCm39) |
E322K |
possibly damaging |
Het |
| Irs2 |
A |
G |
8: 11,055,121 (GRCm39) |
S1104P |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,097,851 (GRCm39) |
F1744L |
probably benign |
Het |
| Lcn10 |
A |
T |
2: 25,573,587 (GRCm39) |
R55* |
probably null |
Het |
| Lrp2 |
A |
T |
2: 69,299,822 (GRCm39) |
C3077S |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,161,566 (GRCm39) |
S826R |
probably benign |
Het |
| Nr2c1 |
G |
T |
10: 93,999,648 (GRCm39) |
V103L |
probably benign |
Het |
| Nup133 |
A |
T |
8: 124,663,612 (GRCm39) |
D310E |
possibly damaging |
Het |
| Or7c70 |
A |
G |
10: 78,683,093 (GRCm39) |
S219P |
possibly damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,359,187 (GRCm39) |
E112D |
probably damaging |
Het |
| Pira12 |
A |
T |
7: 3,897,640 (GRCm39) |
V485E |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,153,594 (GRCm39) |
K2237E |
probably damaging |
Het |
| Sirt2 |
A |
G |
7: 28,466,940 (GRCm39) |
|
probably benign |
Het |
| Slit2 |
A |
T |
5: 48,459,770 (GRCm39) |
H1350L |
possibly damaging |
Het |
| Snx15 |
A |
G |
19: 6,171,538 (GRCm39) |
S179P |
probably damaging |
Het |
| Sp8 |
T |
G |
12: 118,812,402 (GRCm39) |
S86A |
probably benign |
Het |
| Sptbn5 |
T |
C |
2: 119,907,803 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
A |
G |
16: 4,365,175 (GRCm39) |
S196P |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,880,530 (GRCm39) |
|
probably null |
Het |
| Tnks2 |
T |
C |
19: 36,843,604 (GRCm39) |
|
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,642,511 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
C |
A |
1: 37,139,779 (GRCm39) |
Q367K |
possibly damaging |
Het |
| Zdhhc20 |
A |
T |
14: 58,078,340 (GRCm39) |
V312E |
probably damaging |
Het |
|
| Other mutations in Ccr10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02887:Ccr10
|
APN |
11 |
101,065,492 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1523:Ccr10
|
UTSW |
11 |
101,064,501 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1696:Ccr10
|
UTSW |
11 |
101,065,210 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5275:Ccr10
|
UTSW |
11 |
101,065,111 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5295:Ccr10
|
UTSW |
11 |
101,065,111 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5418:Ccr10
|
UTSW |
11 |
101,064,904 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7161:Ccr10
|
UTSW |
11 |
101,065,104 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7674:Ccr10
|
UTSW |
11 |
101,065,475 (GRCm39) |
missense |
probably benign |
|
|
R8458:Ccr10
|
UTSW |
11 |
101,064,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Ccr10
|
UTSW |
11 |
101,065,018 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ccr10
|
UTSW |
11 |
101,065,166 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Ccr10
|
UTSW |
11 |
101,065,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGTGGTACTTCCTAGATTC -3'
(R):5'- TGAGGCTTTGAATGAGGCAC -3'
Sequencing Primer
(F):5'- TTCCTAGATTCCAGCCCTGAAGAG -3'
(R):5'- AGGCTTTGAATGAGGCACCTATG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation