Incidental Mutation 'R5661:Ccr9'
| ID |
444091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccr9
|
| Ensembl Gene |
ENSMUSG00000029530 |
| Gene Name |
C-C motif chemokine receptor 9 |
| Synonyms |
GPR-9-6, Cmkbr10 |
| MMRRC Submission |
043304-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5661 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
123596276-123612522 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 123609164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 282
(Y282S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111454]
[ENSMUST00000163559]
[ENSMUST00000166236]
[ENSMUST00000168910]
[ENSMUST00000180093]
|
| AlphaFold |
Q9WUT7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111454
AA Change: Y270S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000107081
Gene: ENSMUSG00000029530
AA Change: Y270S
| 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 benign
Transcript: ENSMUST00000163559
AA Change: Y282S
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000131782
Gene: ENSMUSG00000029530
AA Change: Y282S
| 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 benign
Transcript: ENSMUST00000166236
AA Change: Y282S
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000127024
Gene: ENSMUSG00000029530
AA Change: Y282S
| 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 benign
Transcript: ENSMUST00000168910
AA Change: Y282S
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000126758
Gene: ENSMUSG00000029530
AA Change: Y282S
| 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 benign
Transcript: ENSMUST00000180093
AA Change: Y282S
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000137144
Gene: ENSMUSG00000029530
AA Change: Y282S
| 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
|
| Meta Mutation Damage Score |
0.1584 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (57/59) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg2 |
A |
G |
6: 83,497,754 (GRCm39) |
I166T |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,231,618 (GRCm39) |
E273G |
probably benign |
Het |
| Arhgap15 |
G |
A |
2: 44,212,739 (GRCm39) |
R403H |
possibly damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,285,075 (GRCm39) |
|
probably benign |
Het |
| Avl9 |
A |
T |
6: 56,702,087 (GRCm39) |
R81* |
probably null |
Het |
| Brd3 |
G |
A |
2: 27,351,584 (GRCm39) |
T223I |
possibly damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,320,492 (GRCm39) |
M890T |
probably benign |
Het |
| Carm1 |
A |
G |
9: 21,498,295 (GRCm39) |
D433G |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,128,753 (GRCm39) |
K427E |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,947,808 (GRCm39) |
Y929H |
probably damaging |
Het |
| Det1 |
C |
T |
7: 78,492,958 (GRCm39) |
E349K |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,070,406 (GRCm39) |
N834Y |
probably damaging |
Het |
| Epha7 |
A |
T |
4: 28,946,217 (GRCm39) |
|
probably null |
Het |
| Fap |
A |
T |
2: 62,367,307 (GRCm39) |
|
probably benign |
Het |
| Foxn4 |
A |
G |
5: 114,411,053 (GRCm39) |
C23R |
probably benign |
Het |
| Gad1-ps |
T |
C |
10: 99,280,901 (GRCm39) |
|
noncoding transcript |
Het |
| Gli2 |
C |
A |
1: 118,781,032 (GRCm39) |
E238* |
probably null |
Het |
| Gm20939 |
C |
A |
17: 95,183,207 (GRCm39) |
H148N |
probably damaging |
Het |
| Gnl1 |
T |
C |
17: 36,293,447 (GRCm39) |
Y211H |
probably benign |
Het |
| Gpat3 |
A |
T |
5: 101,033,808 (GRCm39) |
K221* |
probably null |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hnrnph1 |
A |
T |
11: 50,275,507 (GRCm39) |
Q415L |
probably benign |
Het |
| Kansl3 |
T |
C |
1: 36,388,038 (GRCm39) |
E383G |
possibly damaging |
Het |
| Kdm5b |
T |
C |
1: 134,526,811 (GRCm39) |
V311A |
probably benign |
Het |
| Lipk |
T |
A |
19: 34,009,727 (GRCm39) |
M215K |
probably benign |
Het |
| Madd |
A |
G |
2: 90,984,778 (GRCm39) |
|
probably null |
Het |
| Meltf |
A |
G |
16: 31,700,744 (GRCm39) |
E88G |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,195,626 (GRCm39) |
S713T |
probably benign |
Het |
| Mocos |
T |
A |
18: 24,799,052 (GRCm39) |
|
probably null |
Het |
| Msto1 |
T |
A |
3: 88,820,192 (GRCm39) |
D88V |
possibly damaging |
Het |
| Myo5a |
A |
G |
9: 75,074,488 (GRCm39) |
Y799C |
probably benign |
Het |
| Nectin4 |
T |
A |
1: 171,212,738 (GRCm39) |
L357H |
probably damaging |
Het |
| Or4p22 |
G |
A |
2: 88,317,441 (GRCm39) |
V122M |
probably damaging |
Het |
| Or6c2 |
A |
T |
10: 129,362,618 (GRCm39) |
H174L |
probably benign |
Het |
| Pax2 |
A |
G |
19: 44,779,161 (GRCm39) |
N179S |
probably damaging |
Het |
| Pcdhac2 |
C |
A |
18: 37,278,499 (GRCm39) |
T493K |
probably damaging |
Het |
| Pgk2 |
G |
T |
17: 40,518,287 (GRCm39) |
C380* |
probably null |
Het |
| Pi4k2b |
G |
A |
5: 52,900,906 (GRCm39) |
|
probably null |
Het |
| Plcb3 |
A |
G |
19: 6,940,588 (GRCm39) |
V416A |
probably damaging |
Het |
| Pom121l2 |
G |
A |
13: 22,168,425 (GRCm39) |
G899R |
possibly damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,110,963 (GRCm39) |
|
probably null |
Het |
| Prkdc |
G |
A |
16: 15,628,634 (GRCm39) |
E3460K |
possibly damaging |
Het |
| Psmb3 |
A |
G |
11: 97,597,659 (GRCm39) |
E75G |
possibly damaging |
Het |
| Retnlb |
C |
T |
16: 48,638,429 (GRCm39) |
T50I |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,649 (GRCm39) |
S789P |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,136,734 (GRCm39) |
T489I |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,136,791 (GRCm39) |
M508T |
possibly damaging |
Het |
| Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
| Terf1 |
T |
A |
1: 15,889,888 (GRCm39) |
V221E |
probably damaging |
Het |
| Trak1 |
A |
G |
9: 121,272,703 (GRCm39) |
N187S |
possibly damaging |
Het |
| Trappc11 |
T |
A |
8: 47,965,642 (GRCm39) |
D528V |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,370,384 (GRCm39) |
D761G |
probably benign |
Het |
| Vmn1r170 |
A |
G |
7: 23,306,231 (GRCm39) |
N211S |
possibly damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,959,467 (GRCm39) |
W50* |
probably null |
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 |
|
|
IGL03302:Ccr9
|
APN |
9 |
123,608,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATGCCAAGCTAAAGTCAGC -3'
(R):5'- GGCTAATGCATCCCAGGTTC -3'
Sequencing Primer
(F):5'- AAAGTCAGCTGTCTTGATCCTGAAGG -3'
(R):5'- AATGCATCCCAGGTTCTTCAGGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation