Incidental Mutation 'R1622:Cadm1'
ID |
174715 |
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 |
039659-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1622 (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 47725139 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 300
(N300S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034581]
[ENSMUST00000085909]
[ENSMUST00000114547]
[ENSMUST00000114548]
[ENSMUST00000143026]
[ENSMUST00000152459]
|
AlphaFold |
Q8R5M8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034581
AA Change: N300S
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000034581 Gene: ENSMUSG00000032076 AA Change: N300S
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 benign
Transcript: ENSMUST00000085909
AA Change: N300S
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000083073 Gene: ENSMUSG00000032076 AA Change: N300S
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 benign
Transcript: ENSMUST00000114547
AA Change: N300S
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000110194 Gene: ENSMUSG00000032076 AA Change: N300S
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 benign
Transcript: ENSMUST00000114548
AA Change: N300S
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000110195 Gene: ENSMUSG00000032076 AA Change: N300S
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 benign
Transcript: ENSMUST00000143026
AA Change: N300S
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000124555 Gene: ENSMUSG00000032076 AA Change: N300S
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: ENSMUST00000151624
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152459
AA Change: N300S
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124119 Gene: ENSMUSG00000032076 AA Change: N300S
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 |
0.0716 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
98% (55/56) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldoart2 |
A |
G |
12: 55,612,696 (GRCm39) |
E207G |
probably benign |
Het |
Arhgap19 |
T |
A |
19: 41,790,412 (GRCm39) |
S19C |
probably benign |
Het |
Arhgef18 |
T |
A |
8: 3,491,272 (GRCm39) |
D374E |
possibly damaging |
Het |
Atf2 |
A |
G |
2: 73,684,133 (GRCm39) |
|
probably null |
Het |
Ccdc159 |
A |
T |
9: 21,840,666 (GRCm39) |
I78F |
possibly damaging |
Het |
Cdh4 |
T |
C |
2: 179,530,885 (GRCm39) |
I589T |
possibly damaging |
Het |
Clstn1 |
T |
C |
4: 149,713,864 (GRCm39) |
I182T |
probably damaging |
Het |
Cnga3 |
T |
A |
1: 37,283,909 (GRCm39) |
|
probably benign |
Het |
Cntln |
T |
A |
4: 84,981,418 (GRCm39) |
S865R |
probably damaging |
Het |
Col5a3 |
C |
T |
9: 20,683,516 (GRCm39) |
G1552E |
unknown |
Het |
Col6a4 |
A |
C |
9: 105,874,334 (GRCm39) |
S2218A |
probably benign |
Het |
Ephb1 |
T |
C |
9: 101,878,910 (GRCm39) |
T527A |
probably benign |
Het |
Fkbp15 |
T |
A |
4: 62,241,439 (GRCm39) |
I569F |
possibly damaging |
Het |
Gabra4 |
A |
G |
5: 71,729,329 (GRCm39) |
S484P |
possibly damaging |
Het |
Glce |
T |
C |
9: 61,977,843 (GRCm39) |
I14V |
possibly damaging |
Het |
Gm4884 |
A |
T |
7: 40,692,265 (GRCm39) |
Q78L |
probably damaging |
Het |
Gpn1 |
A |
G |
5: 31,660,748 (GRCm39) |
T180A |
possibly damaging |
Het |
Gpr6 |
A |
T |
10: 40,947,288 (GRCm39) |
I98N |
probably damaging |
Het |
Hcrtr2 |
T |
C |
9: 76,230,722 (GRCm39) |
N22S |
probably benign |
Het |
Hfm1 |
C |
T |
5: 107,041,389 (GRCm39) |
V665I |
possibly damaging |
Het |
Il4ra |
T |
A |
7: 125,169,225 (GRCm39) |
I159N |
possibly damaging |
Het |
Irf8 |
G |
C |
8: 121,466,561 (GRCm39) |
C2S |
possibly damaging |
Het |
Itih2 |
A |
T |
2: 10,106,890 (GRCm39) |
N701K |
probably benign |
Het |
Lrrc4b |
GAGAAG |
GAG |
7: 44,111,654 (GRCm39) |
|
probably benign |
Het |
Mmp10 |
T |
A |
9: 7,504,996 (GRCm39) |
Y263* |
probably null |
Het |
Morc3 |
T |
A |
16: 93,671,694 (GRCm39) |
M835K |
probably benign |
Het |
Msh3 |
A |
G |
13: 92,481,462 (GRCm39) |
|
probably null |
Het |
Ncbp1 |
A |
G |
4: 46,171,963 (GRCm39) |
H777R |
possibly damaging |
Het |
Nfatc1 |
A |
G |
18: 80,710,182 (GRCm39) |
M514T |
probably damaging |
Het |
Nlrp3 |
T |
A |
11: 59,439,302 (GRCm39) |
I293N |
probably damaging |
Het |
Pank2 |
A |
T |
2: 131,115,889 (GRCm39) |
E102D |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,754,505 (GRCm39) |
D175G |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 94,123,311 (GRCm39) |
D953G |
probably benign |
Het |
Pibf1 |
G |
A |
14: 99,423,917 (GRCm39) |
V497I |
probably benign |
Het |
Pkd1 |
G |
A |
17: 24,800,614 (GRCm39) |
M3085I |
probably benign |
Het |
Prss58 |
A |
T |
6: 40,874,248 (GRCm39) |
C143S |
possibly damaging |
Het |
Rassf8 |
A |
G |
6: 145,765,829 (GRCm39) |
|
probably benign |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Spag7 |
T |
A |
11: 70,555,688 (GRCm39) |
D73V |
probably damaging |
Het |
Sult3a1 |
A |
T |
10: 33,746,246 (GRCm39) |
M189L |
probably benign |
Het |
Syt4 |
T |
C |
18: 31,577,069 (GRCm39) |
D95G |
probably damaging |
Het |
Tbc1d8 |
A |
C |
1: 39,419,317 (GRCm39) |
S766A |
probably benign |
Het |
Tmco5 |
A |
T |
2: 116,710,796 (GRCm39) |
M39L |
probably benign |
Het |
Trcg1 |
A |
G |
9: 57,155,955 (GRCm39) |
N797S |
possibly damaging |
Het |
Trim34a |
A |
T |
7: 103,910,545 (GRCm39) |
|
probably null |
Het |
Ubr5 |
T |
C |
15: 38,009,357 (GRCm39) |
|
probably benign |
Het |
Urb2 |
A |
G |
8: 124,756,363 (GRCm39) |
N690S |
probably benign |
Het |
Zfp445 |
A |
G |
9: 122,681,614 (GRCm39) |
Y776H |
possibly damaging |
Het |
Zfp52 |
G |
A |
17: 21,781,833 (GRCm39) |
M560I |
probably benign |
Het |
Zfp608 |
A |
G |
18: 55,121,366 (GRCm39) |
S74P |
probably benign |
Het |
Zfp629 |
A |
G |
7: 127,211,012 (GRCm39) |
C266R |
probably damaging |
Het |
Zscan2 |
A |
G |
7: 80,525,134 (GRCm39) |
K285R |
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 |
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 |
R4214:Cadm1
|
UTSW |
9 |
47,708,741 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- GTTTGCCGCATGGGTTAAGAAACTG -3'
(R):5'- GACAGCCTTCCTTCTCAGCATGAC -3'
Sequencing Primer
(F):5'- CTGGATACAGATACCTTAGTGGG -3'
(R):5'- ttGGTTTTCAACTTGACCAAAGG -3'
|
Posted On |
2014-04-24 |