Incidental Mutation 'IGL02883:Crtam'
| ID |
362870 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crtam
|
| Ensembl Gene |
ENSMUSG00000032021 |
| Gene Name |
cytotoxic and regulatory T cell molecule |
| Synonyms |
class I-restricted T cell-associated molecule |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL02883
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
40880987-40915922 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40905797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 44
(V44A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034519]
[ENSMUST00000180384]
[ENSMUST00000188848]
|
| AlphaFold |
Q149L7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034519
AA Change: V44A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034519
Gene: ENSMUSG00000032021
AA Change: V44A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
21 |
113 |
4.7e-9 |
SMART |
|
Pfam:C2-set_2
|
119 |
205 |
2.7e-16 |
PFAM |
|
low complexity region
|
222 |
239 |
N/A |
INTRINSIC |
|
transmembrane domain
|
283 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
345 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180384
AA Change: V44A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137837
Gene: ENSMUSG00000032021
AA Change: V44A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
21 |
113 |
4.7e-9 |
SMART |
|
Pfam:C2-set_2
|
119 |
205 |
4.2e-15 |
PFAM |
|
low complexity region
|
229 |
246 |
N/A |
INTRINSIC |
|
transmembrane domain
|
290 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
352 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188848
AA Change: V44A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139826
Gene: ENSMUSG00000032021
AA Change: V44A
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
21 |
113 |
4.7e-9 |
SMART |
|
Pfam:C2-set_2
|
119 |
205 |
1.9e-15 |
PFAM |
|
low complexity region
|
229 |
246 |
N/A |
INTRINSIC |
|
transmembrane domain
|
289 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
351 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]
PHENOTYPE: Homozygous null mice have defects in late stage T cell activation that leads to less production of inflammatory cytokines, higher proliferation, and an increase in T cell number with age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
A |
19: 3,766,972 (GRCm39) |
S186R |
possibly damaging |
Het |
| Acap2 |
A |
G |
16: 30,915,163 (GRCm39) |
|
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,599,506 (GRCm39) |
R1726S |
probably damaging |
Het |
| Cdca2 |
T |
C |
14: 67,944,946 (GRCm39) |
S133G |
probably damaging |
Het |
| Cep295nl |
A |
T |
11: 118,224,735 (GRCm39) |
S36R |
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,817,013 (GRCm39) |
N190S |
possibly damaging |
Het |
| Crtc1 |
C |
T |
8: 70,858,775 (GRCm39) |
G112S |
probably benign |
Het |
| Cyp17a1 |
T |
C |
19: 46,657,790 (GRCm39) |
N254S |
probably benign |
Het |
| Dmrta1 |
T |
C |
4: 89,577,011 (GRCm39) |
S156P |
probably benign |
Het |
| Eno2 |
A |
C |
6: 124,743,172 (GRCm39) |
V188G |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,565,953 (GRCm39) |
I427N |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,147,444 (GRCm39) |
K3933E |
probably benign |
Het |
| Igkv8-30 |
T |
C |
6: 70,094,601 (GRCm39) |
M1V |
probably null |
Het |
| Ist1 |
G |
A |
8: 110,410,300 (GRCm39) |
|
probably benign |
Het |
| Kank4 |
T |
C |
4: 98,661,690 (GRCm39) |
E765G |
possibly damaging |
Het |
| Kat14 |
T |
C |
2: 144,235,449 (GRCm39) |
L92S |
probably damaging |
Het |
| Kcnu1 |
G |
A |
8: 26,339,855 (GRCm39) |
V58I |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,261,513 (GRCm39) |
V1489E |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,352,720 (GRCm39) |
I1956N |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,763,199 (GRCm39) |
V5100I |
probably benign |
Het |
| Mkrn2os |
C |
A |
6: 115,563,670 (GRCm39) |
G122* |
probably null |
Het |
| Nme3 |
T |
C |
17: 25,115,880 (GRCm39) |
Y78H |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,179 (GRCm39) |
S488P |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ppp2r5c |
T |
G |
12: 110,488,997 (GRCm39) |
V56G |
possibly damaging |
Het |
| Pramel16 |
T |
C |
4: 143,676,418 (GRCm39) |
T229A |
possibly damaging |
Het |
| Prdm10 |
G |
A |
9: 31,238,644 (GRCm39) |
V179M |
probably damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,895,430 (GRCm39) |
V344A |
probably damaging |
Het |
| Selp |
G |
A |
1: 163,957,671 (GRCm39) |
A267T |
probably benign |
Het |
| Sf3a1 |
T |
A |
11: 4,129,192 (GRCm39) |
W718R |
probably damaging |
Het |
| Taar9 |
T |
C |
10: 23,985,378 (GRCm39) |
N19D |
probably benign |
Het |
| Tas2r113 |
T |
G |
6: 132,870,382 (GRCm39) |
S137A |
probably damaging |
Het |
| Traf4 |
A |
T |
11: 78,052,447 (GRCm39) |
I66N |
possibly damaging |
Het |
| Ucp3 |
A |
T |
7: 100,129,849 (GRCm39) |
T164S |
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,216,696 (GRCm39) |
N96K |
probably benign |
Het |
| Uqcc1 |
T |
A |
2: 155,753,749 (GRCm39) |
Q42L |
possibly damaging |
Het |
| Vmn1r128 |
A |
G |
7: 21,083,440 (GRCm39) |
K48R |
probably benign |
Het |
|
| Other mutations in Crtam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0722:Crtam
|
UTSW |
9 |
40,903,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1423:Crtam
|
UTSW |
9 |
40,884,918 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1859:Crtam
|
UTSW |
9 |
40,884,900 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1935:Crtam
|
UTSW |
9 |
40,915,846 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1936:Crtam
|
UTSW |
9 |
40,915,846 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2090:Crtam
|
UTSW |
9 |
40,895,612 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2360:Crtam
|
UTSW |
9 |
40,884,811 (GRCm39) |
makesense |
probably null |
|
|
R4812:Crtam
|
UTSW |
9 |
40,895,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5995:Crtam
|
UTSW |
9 |
40,905,836 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6021:Crtam
|
UTSW |
9 |
40,901,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Crtam
|
UTSW |
9 |
40,892,478 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8750:Crtam
|
UTSW |
9 |
40,895,641 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9632:Crtam
|
UTSW |
9 |
40,895,671 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9710:Crtam
|
UTSW |
9 |
40,895,671 (GRCm39) |
missense |
probably benign |
0.12 |
|
RF044:Crtam
|
UTSW |
9 |
40,895,650 (GRCm39) |
frame shift |
probably null |
|
|
RF057:Crtam
|
UTSW |
9 |
40,895,650 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation