Incidental Mutation 'IGL03302:Ccr9'
| ID |
416239 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccr9
|
| Ensembl Gene |
ENSMUSG00000029530 |
| Gene Name |
C-C motif chemokine receptor 9 |
| Synonyms |
GPR-9-6, Cmkbr10 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL03302
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
123596276-123612522 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123608601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 94
(D94E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111454]
[ENSMUST00000163559]
[ENSMUST00000166236]
[ENSMUST00000168910]
[ENSMUST00000180093]
|
| AlphaFold |
Q9WUT7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111454
AA Change: D82E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107081
Gene: ENSMUSG00000029530
AA Change: D82E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
47 |
320 |
1.2e-5 |
PFAM |
|
Pfam:7tm_1
|
53 |
305 |
1.1e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163559
AA Change: D94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131782
Gene: ENSMUSG00000029530
AA Change: D94E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
59 |
332 |
5.9e-6 |
PFAM |
|
Pfam:7tm_1
|
65 |
317 |
3.4e-52 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166236
AA Change: D94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127024
Gene: ENSMUSG00000029530
AA Change: D94E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
59 |
332 |
5.9e-6 |
PFAM |
|
Pfam:7tm_1
|
65 |
317 |
4.6e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168910
AA Change: D94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126758
Gene: ENSMUSG00000029530
AA Change: D94E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
59 |
332 |
5.9e-6 |
PFAM |
|
Pfam:7tm_1
|
65 |
317 |
3.4e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172093
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180093
AA Change: D94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137144
Gene: ENSMUSG00000029530
AA Change: D94E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
59 |
332 |
5.9e-6 |
PFAM |
|
Pfam:7tm_1
|
65 |
317 |
3.4e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214413
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the beta chemokine receptor family. It is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are key regulators of the thymocytes migration and maturation in normal and inflammation conditions. The specific ligand of this receptor is CCL25. It has been found that this gene is differentially expressed by T lymphocytes of small intestine and colon, suggested a role in the thymocytes recruitment and development that may permit functional specialization of immune responses in different segment of the gastrointestinal tract. This gene is mapped to the chemokine receptor gene cluster region. Two alternatively spliced transcript variants have been described. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null mice have altered trafficing of lymphocytes to the intestine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,858,576 (GRCm39) |
Y542F |
possibly damaging |
Het |
| Ankrd34b |
A |
T |
13: 92,576,151 (GRCm39) |
N461I |
possibly damaging |
Het |
| Ccl24 |
T |
C |
5: 135,599,732 (GRCm39) |
K93E |
probably benign |
Het |
| Cd79a |
G |
A |
7: 24,598,759 (GRCm39) |
V103M |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,950,521 (GRCm39) |
|
probably null |
Het |
| Cul9 |
T |
C |
17: 46,837,566 (GRCm39) |
E993G |
probably damaging |
Het |
| Cyp4a14 |
T |
C |
4: 115,348,575 (GRCm39) |
I330V |
probably benign |
Het |
| Cyp7a1 |
T |
C |
4: 6,273,801 (GRCm39) |
D35G |
probably benign |
Het |
| Dmpk |
C |
A |
7: 18,820,411 (GRCm39) |
|
probably benign |
Het |
| Gcnt1 |
G |
T |
19: 17,306,547 (GRCm39) |
R393S |
probably benign |
Het |
| Lctl |
C |
T |
9: 64,042,130 (GRCm39) |
|
probably benign |
Het |
| Mttp |
A |
T |
3: 137,810,468 (GRCm39) |
I664N |
possibly damaging |
Het |
| Myh1 |
C |
T |
11: 67,102,328 (GRCm39) |
A873V |
probably benign |
Het |
| Nedd9 |
A |
G |
13: 41,492,330 (GRCm39) |
V54A |
probably damaging |
Het |
| Or3a1b |
T |
G |
11: 74,012,459 (GRCm39) |
C115G |
possibly damaging |
Het |
| Or4f14 |
A |
T |
2: 111,743,167 (GRCm39) |
V36E |
possibly damaging |
Het |
| Or6b1 |
G |
T |
6: 42,814,937 (GRCm39) |
E41* |
probably null |
Het |
| Pak6 |
A |
T |
2: 118,523,784 (GRCm39) |
E313V |
probably benign |
Het |
| Pla2g4a |
A |
G |
1: 149,740,698 (GRCm39) |
S402P |
probably benign |
Het |
| Polq |
T |
C |
16: 36,892,134 (GRCm39) |
M2012T |
probably damaging |
Het |
| Ppp1r12b |
A |
T |
1: 134,765,788 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,676,616 (GRCm39) |
H188R |
probably damaging |
Het |
| Rps6ka2 |
C |
A |
17: 7,566,787 (GRCm39) |
Q682K |
possibly damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Spag4 |
A |
G |
2: 155,910,340 (GRCm39) |
Q322R |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,676,466 (GRCm39) |
T702A |
probably benign |
Het |
| Spmap2l |
T |
G |
5: 77,202,423 (GRCm39) |
S281R |
probably benign |
Het |
| Taf3 |
G |
T |
2: 9,956,942 (GRCm39) |
F408L |
probably damaging |
Het |
| Tead2 |
T |
G |
7: 44,882,323 (GRCm39) |
Y121D |
possibly damaging |
Het |
| Tmco5 |
A |
T |
2: 116,722,760 (GRCm39) |
T294S |
probably damaging |
Het |
| Trim37 |
A |
G |
11: 87,037,827 (GRCm39) |
E187G |
possibly damaging |
Het |
| Ubb |
T |
A |
11: 62,443,243 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,466,652 (GRCm39) |
S402G |
possibly damaging |
Het |
| Zc3h7a |
T |
A |
16: 10,959,574 (GRCm39) |
H793L |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,773 (GRCm39) |
T2977I |
possibly damaging |
Het |
|
| Other mutations in Ccr9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Ccr9
|
APN |
9 |
123,609,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00983:Ccr9
|
APN |
9 |
123,608,351 (GRCm39) |
missense |
probably benign |
|
|
IGL02466:Ccr9
|
APN |
9 |
123,608,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03151:Ccr9
|
APN |
9 |
123,603,638 (GRCm39) |
utr 5 prime |
probably benign |
|
|
hamlet
|
UTSW |
9 |
123,608,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Laertes
|
UTSW |
9 |
123,608,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Ophelia
|
UTSW |
9 |
123,608,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Ccr9
|
UTSW |
9 |
123,603,617 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0393:Ccr9
|
UTSW |
9 |
123,609,035 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0421:Ccr9
|
UTSW |
9 |
123,608,671 (GRCm39) |
missense |
probably benign |
|
|
R2069:Ccr9
|
UTSW |
9 |
123,608,429 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3980:Ccr9
|
UTSW |
9 |
123,608,441 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4645:Ccr9
|
UTSW |
9 |
123,608,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4672:Ccr9
|
UTSW |
9 |
123,608,752 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4920:Ccr9
|
UTSW |
9 |
123,608,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5661:Ccr9
|
UTSW |
9 |
123,609,164 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5964:Ccr9
|
UTSW |
9 |
123,608,499 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7037:Ccr9
|
UTSW |
9 |
123,609,036 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7500:Ccr9
|
UTSW |
9 |
123,608,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7620:Ccr9
|
UTSW |
9 |
123,608,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7670:Ccr9
|
UTSW |
9 |
123,608,371 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7762:Ccr9
|
UTSW |
9 |
123,609,022 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8154:Ccr9
|
UTSW |
9 |
123,608,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8283:Ccr9
|
UTSW |
9 |
123,608,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8525:Ccr9
|
UTSW |
9 |
123,608,732 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9046:Ccr9
|
UTSW |
9 |
123,608,831 (GRCm39) |
missense |
probably benign |
|
|
R9273:Ccr9
|
UTSW |
9 |
123,609,085 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9462:Ccr9
|
UTSW |
9 |
123,608,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Ccr9
|
UTSW |
9 |
123,608,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation