Incidental Mutation 'R4214:Cadm1'
| ID |
319350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cadm1
|
| Ensembl Gene |
ENSMUSG00000032076 |
| Gene Name |
cell adhesion molecule 1 |
| Synonyms |
RA175N, RA175B, 2900073G06Rik, 3100001I08Rik, Tslc1, Igsf4, RA175A, SgIGSF, SynCam, Necl2, RA175C, Igsf4a |
| MMRRC Submission |
041041-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4214 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
47441471-47769413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47708741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 157
(D157G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034581]
[ENSMUST00000085909]
[ENSMUST00000114547]
[ENSMUST00000114548]
[ENSMUST00000143026]
[ENSMUST00000152459]
|
| AlphaFold |
Q8R5M8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034581
AA Change: D157G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034581
Gene: ENSMUSG00000032076
AA Change: D157G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
41 |
N/A |
INTRINSIC |
|
IG
|
52 |
144 |
3.33e-9 |
SMART |
|
IG_like
|
160 |
230 |
8.08e-1 |
SMART |
|
IGc2
|
261 |
323 |
2.08e-10 |
SMART |
|
low complexity region
|
345 |
360 |
N/A |
INTRINSIC |
|
4.1m
|
370 |
388 |
1.5e-3 |
SMART |
|
low complexity region
|
389 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085909
AA Change: D157G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083073
Gene: ENSMUSG00000032076
AA Change: D157G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
41 |
N/A |
INTRINSIC |
|
IG
|
52 |
144 |
3.33e-9 |
SMART |
|
IG_like
|
160 |
230 |
8.08e-1 |
SMART |
|
IGc2
|
261 |
323 |
2.08e-10 |
SMART |
|
low complexity region
|
336 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
399 |
N/A |
INTRINSIC |
|
4.1m
|
409 |
427 |
1.5e-3 |
SMART |
|
low complexity region
|
428 |
435 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114547
AA Change: D157G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110194
Gene: ENSMUSG00000032076
AA Change: D157G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
41 |
N/A |
INTRINSIC |
|
IG
|
52 |
144 |
3.33e-9 |
SMART |
|
IG_like
|
160 |
230 |
8.08e-1 |
SMART |
|
IGc2
|
261 |
323 |
2.08e-10 |
SMART |
|
low complexity region
|
336 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
388 |
N/A |
INTRINSIC |
|
4.1m
|
398 |
416 |
1.5e-3 |
SMART |
|
low complexity region
|
417 |
424 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114548
AA Change: D157G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110195
Gene: ENSMUSG00000032076
AA Change: D157G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
41 |
N/A |
INTRINSIC |
|
IG
|
52 |
144 |
3.33e-9 |
SMART |
|
IG_like
|
160 |
230 |
8.08e-1 |
SMART |
|
IGc2
|
261 |
323 |
2.08e-10 |
SMART |
|
low complexity region
|
356 |
371 |
N/A |
INTRINSIC |
|
4.1m
|
381 |
399 |
1.5e-3 |
SMART |
|
low complexity region
|
400 |
407 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124073
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143026
AA Change: D157G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124555
Gene: ENSMUSG00000032076
AA Change: D157G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
41 |
N/A |
INTRINSIC |
|
IG
|
52 |
144 |
3.33e-9 |
SMART |
|
IG_like
|
160 |
230 |
8.08e-1 |
SMART |
|
IGc2
|
261 |
323 |
2.08e-10 |
SMART |
|
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148925
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151624
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152459
AA Change: D157G
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124119
Gene: ENSMUSG00000032076
AA Change: D157G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
IG
|
52 |
144 |
3.33e-9 |
SMART |
|
IG_like
|
160 |
230 |
8.08e-1 |
SMART |
|
IGc2
|
261 |
323 |
2.08e-10 |
SMART |
|
low complexity region
|
336 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
417 |
N/A |
INTRINSIC |
|
4.1m
|
427 |
445 |
1.5e-3 |
SMART |
|
low complexity region
|
446 |
453 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1370 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.5%
|
| Validation Efficiency |
98% (64/65) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant male show infertility due to block in maturation of spermatogenesis. Mice homozygous for a gene trap allele exhibit decreased body size, impaired T cell development, and impaired T cell response to anti-CD3/CD28 antibody stimulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
C |
T |
1: 192,515,845 (GRCm39) |
|
noncoding transcript |
Het |
| Abca12 |
T |
A |
1: 71,327,856 (GRCm39) |
D1408V |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,243,877 (GRCm39) |
L1913F |
probably damaging |
Het |
| Acad9 |
A |
G |
3: 36,127,752 (GRCm39) |
E118G |
probably damaging |
Het |
| Adamts5 |
G |
A |
16: 85,665,531 (GRCm39) |
A590V |
probably damaging |
Het |
| Ano6 |
A |
C |
15: 95,863,790 (GRCm39) |
Y791S |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,346,603 (GRCm39) |
|
probably null |
Het |
| Aox4 |
T |
A |
1: 58,261,051 (GRCm39) |
I128N |
probably damaging |
Het |
| Atp2b3 |
A |
G |
X: 72,613,921 (GRCm39) |
M1142V |
probably benign |
Het |
| AU041133 |
A |
G |
10: 81,987,223 (GRCm39) |
H292R |
probably damaging |
Het |
| Bco2 |
A |
G |
9: 50,456,666 (GRCm39) |
M158T |
probably benign |
Het |
| Bpnt1 |
T |
A |
1: 185,077,626 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,895,357 (GRCm39) |
R499G |
possibly damaging |
Het |
| Ccr7 |
T |
C |
11: 99,035,872 (GRCm39) |
E350G |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,486,076 (GRCm39) |
S524R |
probably benign |
Het |
| Cep78 |
T |
C |
19: 15,936,943 (GRCm39) |
T588A |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,966,840 (GRCm39) |
E282D |
possibly damaging |
Het |
| Drd2 |
A |
G |
9: 49,316,221 (GRCm39) |
K327R |
probably benign |
Het |
| Erich5 |
C |
T |
15: 34,471,557 (GRCm39) |
P262L |
possibly damaging |
Het |
| Ezh2 |
A |
C |
6: 47,510,748 (GRCm39) |
D578E |
probably damaging |
Het |
| Fez1 |
A |
G |
9: 36,781,784 (GRCm39) |
N20S |
probably damaging |
Het |
| Folr2 |
T |
G |
7: 101,492,906 (GRCm39) |
K39T |
probably damaging |
Het |
| Gm10549 |
G |
T |
18: 33,597,530 (GRCm39) |
|
probably null |
Het |
| Gm14393 |
C |
T |
2: 174,903,640 (GRCm39) |
C89Y |
probably benign |
Het |
| Gm5329 |
T |
G |
7: 31,671,828 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7367 |
A |
G |
7: 59,805,517 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr162 |
A |
T |
6: 124,837,031 (GRCm39) |
W338R |
probably damaging |
Het |
| Ift80 |
A |
T |
3: 68,898,141 (GRCm39) |
F65I |
possibly damaging |
Het |
| Klra6 |
T |
G |
6: 129,995,885 (GRCm39) |
I158L |
probably benign |
Het |
| Lpp |
T |
A |
16: 24,580,804 (GRCm39) |
Y173* |
probably null |
Het |
| Lrp12 |
A |
G |
15: 39,735,976 (GRCm39) |
V671A |
probably benign |
Het |
| Lrrc27 |
C |
T |
7: 138,803,609 (GRCm39) |
R178C |
probably damaging |
Het |
| Lrrc49 |
G |
A |
9: 60,573,609 (GRCm39) |
T225M |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,054,793 (GRCm39) |
S1915T |
probably benign |
Het |
| Mmadhc |
T |
C |
2: 50,181,344 (GRCm39) |
T109A |
probably benign |
Het |
| Mon2 |
T |
C |
10: 122,852,397 (GRCm39) |
E992G |
probably benign |
Het |
| Msl3 |
A |
G |
X: 167,450,059 (GRCm39) |
I267T |
probably damaging |
Het |
| Msl3 |
A |
T |
X: 167,445,430 (GRCm39) |
N430K |
probably damaging |
Het |
| Nab2 |
G |
T |
10: 127,500,917 (GRCm39) |
Y25* |
probably null |
Het |
| Notch3 |
T |
C |
17: 32,351,181 (GRCm39) |
E1938G |
possibly damaging |
Het |
| Or5ae2 |
C |
T |
7: 84,506,497 (GRCm39) |
H307Y |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,354,167 (GRCm39) |
T44A |
probably damaging |
Het |
| Pdpr |
A |
G |
8: 111,856,212 (GRCm39) |
|
probably benign |
Het |
| Pfkp |
A |
G |
13: 6,669,261 (GRCm39) |
S241P |
probably damaging |
Het |
| Phgdh |
A |
T |
3: 98,235,377 (GRCm39) |
S166T |
possibly damaging |
Het |
| Plcl1 |
C |
T |
1: 55,790,494 (GRCm39) |
Q1055* |
probably null |
Het |
| Plscr2 |
A |
G |
9: 92,169,790 (GRCm39) |
N80S |
probably benign |
Het |
| Polr3k |
A |
T |
2: 181,510,035 (GRCm39) |
M80L |
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,171,383 (GRCm39) |
D304G |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,355,285 (GRCm39) |
T1529A |
probably damaging |
Het |
| Rcvrn |
A |
T |
11: 67,586,514 (GRCm39) |
H91L |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Tbx18 |
T |
C |
9: 87,606,518 (GRCm39) |
Y209C |
probably damaging |
Het |
| Themis3 |
T |
C |
17: 66,867,012 (GRCm39) |
N76S |
probably benign |
Het |
| Trhde |
A |
T |
10: 114,623,975 (GRCm39) |
S310T |
possibly damaging |
Het |
| Vmn1r213 |
G |
A |
13: 23,196,173 (GRCm39) |
C252Y |
possibly damaging |
Het |
| Zfp523 |
T |
C |
17: 28,420,003 (GRCm39) |
V216A |
probably benign |
Het |
|
| Other mutations in Cadm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01697:Cadm1
|
APN |
9 |
47,761,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01899:Cadm1
|
APN |
9 |
47,721,389 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02154:Cadm1
|
APN |
9 |
47,725,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03196:Cadm1
|
APN |
9 |
47,710,675 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0053:Cadm1
|
UTSW |
9 |
47,710,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Cadm1
|
UTSW |
9 |
47,710,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Cadm1
|
UTSW |
9 |
47,761,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Cadm1
|
UTSW |
9 |
47,761,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Cadm1
|
UTSW |
9 |
47,725,104 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0717:Cadm1
|
UTSW |
9 |
47,721,366 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1622:Cadm1
|
UTSW |
9 |
47,725,139 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1817:Cadm1
|
UTSW |
9 |
47,740,668 (GRCm39) |
splice site |
probably benign |
|
|
R1958:Cadm1
|
UTSW |
9 |
47,761,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3124:Cadm1
|
UTSW |
9 |
47,710,775 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4449:Cadm1
|
UTSW |
9 |
47,441,735 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4449:Cadm1
|
UTSW |
9 |
47,725,286 (GRCm39) |
intron |
probably benign |
|
|
R4701:Cadm1
|
UTSW |
9 |
47,730,120 (GRCm39) |
splice site |
probably benign |
|
|
R5932:Cadm1
|
UTSW |
9 |
47,710,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6013:Cadm1
|
UTSW |
9 |
47,768,572 (GRCm39) |
unclassified |
probably benign |
|
|
R6315:Cadm1
|
UTSW |
9 |
47,721,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6481:Cadm1
|
UTSW |
9 |
47,699,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7121:Cadm1
|
UTSW |
9 |
47,710,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7582:Cadm1
|
UTSW |
9 |
47,708,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8710:Cadm1
|
UTSW |
9 |
47,759,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8943:Cadm1
|
UTSW |
9 |
47,701,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9258:Cadm1
|
UTSW |
9 |
47,710,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9300:Cadm1
|
UTSW |
9 |
47,708,821 (GRCm39) |
nonsense |
probably null |
|
|
R9675:Cadm1
|
UTSW |
9 |
47,441,752 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGACATTGTCTATCCAGTTCC -3'
(R):5'- TTGTAATTTCCGCAAAGGGCC -3'
Sequencing Primer
(F):5'- GCAGTTTGTCATCTGGAAGTGATC -3'
(R):5'- CAAAGGGCCCCTTGCTAGATAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation