Incidental Mutation 'R2360:Crtam'
| ID |
247115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crtam
|
| Ensembl Gene |
ENSMUSG00000032021 |
| Gene Name |
cytotoxic and regulatory T cell molecule |
| Synonyms |
class I-restricted T cell-associated molecule |
| MMRRC Submission |
040342-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R2360 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
40880987-40915922 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 40884811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glutamine
at position 393
(*393Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034519]
[ENSMUST00000180384]
[ENSMUST00000180872]
[ENSMUST00000188848]
|
| AlphaFold |
Q149L7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034519
AA Change: *387Q
|
| SMART Domains |
Protein: ENSMUSP00000034519
Gene: ENSMUSG00000032021
AA Change: *387Q
| 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 null
Transcript: ENSMUST00000180384
AA Change: *394Q
|
| SMART Domains |
Protein: ENSMUSP00000137837
Gene: ENSMUSG00000032021
AA Change: *394Q
| 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 null
Transcript: ENSMUST00000180872
AA Change: *197Q
|
| SMART Domains |
Protein: ENSMUSP00000137749
Gene: ENSMUSG00000032021
AA Change: *197Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
49 |
N/A |
INTRINSIC |
|
transmembrane domain
|
92 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188848
AA Change: *393Q
|
| SMART Domains |
Protein: ENSMUSP00000139826
Gene: ENSMUSG00000032021
AA Change: *393Q
| 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 |
|
| Meta Mutation Damage Score |
0.8582 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
93% (37/40) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,274,214 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,850,431 (GRCm39) |
E761G |
probably benign |
Het |
| Apc |
C |
T |
18: 34,394,179 (GRCm39) |
T35I |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,541,723 (GRCm39) |
I228N |
probably damaging |
Het |
| Atp6v1g2 |
A |
G |
17: 35,456,638 (GRCm39) |
E74G |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,447 (GRCm39) |
E79G |
probably damaging |
Het |
| Cdc42ep4 |
A |
G |
11: 113,619,528 (GRCm39) |
S288P |
probably damaging |
Het |
| Cip2a |
C |
T |
16: 48,837,828 (GRCm39) |
Q843* |
probably null |
Het |
| Cpn2 |
T |
C |
16: 30,078,321 (GRCm39) |
D460G |
probably benign |
Het |
| Cwc22 |
A |
G |
2: 77,757,591 (GRCm39) |
I179T |
probably damaging |
Het |
| Cyp3a41b |
T |
C |
5: 145,507,221 (GRCm39) |
M240V |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,896,178 (GRCm39) |
D864V |
probably benign |
Het |
| Map3k7 |
T |
C |
4: 31,964,302 (GRCm39) |
S14P |
unknown |
Het |
| Med25 |
A |
G |
7: 44,534,566 (GRCm39) |
S150P |
probably damaging |
Het |
| Mex3b |
T |
C |
7: 82,517,070 (GRCm39) |
V71A |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,638,275 (GRCm39) |
L19S |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,176,770 (GRCm39) |
S98T |
probably damaging |
Het |
| Mthfd1l |
G |
T |
10: 4,006,771 (GRCm39) |
A678S |
probably damaging |
Het |
| Napa |
A |
G |
7: 15,848,083 (GRCm39) |
Y200C |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,876,565 (GRCm39) |
I33V |
probably benign |
Het |
| Or14j6 |
A |
G |
17: 38,215,345 (GRCm39) |
K303E |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,466,769 (GRCm39) |
R66Q |
probably damaging |
Het |
| Resf1 |
A |
G |
6: 149,236,145 (GRCm39) |
I1488M |
probably benign |
Het |
| Rfk |
A |
G |
19: 17,375,960 (GRCm39) |
T85A |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,893,855 (GRCm39) |
D1179G |
possibly damaging |
Het |
| Serpina3k |
C |
T |
12: 104,307,166 (GRCm39) |
Q133* |
probably null |
Het |
| Setd4 |
T |
C |
16: 93,383,122 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
C |
T |
14: 40,582,548 (GRCm39) |
|
probably null |
Het |
| Slc1a6 |
G |
A |
10: 78,648,718 (GRCm39) |
V480I |
possibly damaging |
Het |
| Slc39a3 |
A |
T |
10: 80,867,104 (GRCm39) |
V214E |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,504,435 (GRCm39) |
Y654H |
probably damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,427,374 (GRCm39) |
C115S |
unknown |
Het |
| Vmn1r209 |
T |
A |
13: 22,989,836 (GRCm39) |
I285F |
probably damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,315,631 (GRCm39) |
T145K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,394,388 (GRCm39) |
T4484A |
unknown |
Het |
| Zfp768 |
T |
C |
7: 126,943,810 (GRCm39) |
E106G |
probably benign |
Het |
| Zfp984 |
A |
G |
4: 147,839,234 (GRCm39) |
I539T |
possibly damaging |
Het |
|
| Other mutations in Crtam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02883:Crtam
|
APN |
9 |
40,905,797 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCAGCTCTGAGGTAGTGTC -3'
(R):5'- GGGTGCAACACTGTTCAGAG -3'
Sequencing Primer
(F):5'- CTCTGAGGTAGTGTCAGTCATAATAG -3'
(R):5'- GTGCAACACTGTTCAGAGCTCATC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation