Incidental Mutation 'R0780:Sdk2'
ID |
76586 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sdk2
|
Ensembl Gene |
ENSMUSG00000041592 |
Gene Name |
sidekick cell adhesion molecule 2 |
Synonyms |
5330435L01Rik, 4632412F08Rik |
MMRRC Submission |
038960-MU
|
Accession Numbers |
|
Is this an essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R0780 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
113776374-114067046 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 113893508 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 135
(V135A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041627]
[ENSMUST00000141943]
|
AlphaFold |
Q6V4S5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041627
AA Change: V135A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000038972 Gene: ENSMUSG00000041592 AA Change: V135A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
IGc2
|
43 |
102 |
4.67e-4 |
SMART |
IG
|
123 |
208 |
6.07e-3 |
SMART |
IG
|
225 |
309 |
1.4e-7 |
SMART |
IGc2
|
325 |
391 |
6.21e-9 |
SMART |
IGc2
|
418 |
486 |
8.57e-12 |
SMART |
IG
|
506 |
591 |
2.37e-5 |
SMART |
FN3
|
594 |
678 |
1.91e-7 |
SMART |
FN3
|
694 |
780 |
2.42e-9 |
SMART |
FN3
|
796 |
884 |
3.45e-5 |
SMART |
FN3
|
899 |
981 |
2.36e-12 |
SMART |
FN3
|
997 |
1084 |
1.64e-6 |
SMART |
FN3
|
1101 |
1188 |
8.83e-12 |
SMART |
FN3
|
1204 |
1289 |
3.62e-8 |
SMART |
FN3
|
1305 |
1388 |
1.74e-10 |
SMART |
FN3
|
1404 |
1489 |
8.23e-12 |
SMART |
FN3
|
1506 |
1612 |
3.62e-8 |
SMART |
FN3
|
1628 |
1713 |
1.15e-10 |
SMART |
FN3
|
1728 |
1815 |
2.17e-11 |
SMART |
FN3
|
1829 |
1913 |
5.04e-7 |
SMART |
transmembrane domain
|
1935 |
1957 |
N/A |
INTRINSIC |
low complexity region
|
2138 |
2153 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141943
AA Change: V135A
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000116872 Gene: ENSMUSG00000041592 AA Change: V135A
Domain | Start | End | E-Value | Type |
IGc2
|
43 |
102 |
4.67e-4 |
SMART |
IG
|
123 |
208 |
6.07e-3 |
SMART |
IG
|
225 |
309 |
1.4e-7 |
SMART |
IGc2
|
325 |
391 |
6.21e-9 |
SMART |
IGc2
|
418 |
486 |
8.57e-12 |
SMART |
IG
|
506 |
591 |
2.37e-5 |
SMART |
FN3
|
594 |
678 |
1.91e-7 |
SMART |
FN3
|
694 |
780 |
2.42e-9 |
SMART |
FN3
|
796 |
889 |
1.96e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155651
|
Meta Mutation Damage Score |
0.3065  |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
|
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 immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired interconnectvity between VG3 amacrine cells and W3B retinal ganglion cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ache |
C |
T |
5: 137,290,532 |
R167C |
probably damaging |
Het |
Ahsa1 |
T |
C |
12: 87,268,328 |
I85T |
probably benign |
Het |
Btaf1 |
T |
C |
19: 36,988,922 |
L1030S |
probably damaging |
Het |
Ccdc163 |
A |
G |
4: 116,712,407 |
K222E |
probably benign |
Het |
Cpsf1 |
A |
G |
15: 76,600,377 |
F635L |
probably benign |
Het |
Cubn |
G |
A |
2: 13,456,613 |
T701M |
probably damaging |
Het |
Cxcr2 |
T |
A |
1: 74,159,175 |
M276K |
probably damaging |
Het |
Daam1 |
T |
A |
12: 71,947,050 |
I409K |
unknown |
Het |
Dnah10 |
G |
T |
5: 124,750,812 |
G741W |
possibly damaging |
Het |
Ica1l |
A |
G |
1: 59,997,449 |
|
probably null |
Het |
Ifi208 |
A |
G |
1: 173,682,696 |
D139G |
probably benign |
Het |
Kat2b |
T |
A |
17: 53,567,448 |
V40E |
unknown |
Het |
Kmt2d |
G |
T |
15: 98,862,857 |
P871T |
unknown |
Het |
Lats2 |
A |
T |
14: 57,691,296 |
Y1041N |
probably damaging |
Het |
Lifr |
C |
T |
15: 7,177,466 |
T486I |
probably benign |
Het |
Mtmr4 |
T |
A |
11: 87,611,440 |
D773E |
probably benign |
Het |
Ptgds |
A |
G |
2: 25,468,092 |
F143S |
possibly damaging |
Het |
Rp1l1 |
A |
G |
14: 64,030,351 |
S1129G |
possibly damaging |
Het |
Slc12a8 |
G |
A |
16: 33,646,665 |
|
probably null |
Het |
Thsd7a |
A |
G |
6: 12,337,274 |
V1248A |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,431,341 |
H1562Q |
probably benign |
Het |
Uba3 |
G |
A |
6: 97,186,705 |
R294* |
probably null |
Het |
Vmn2r22 |
A |
T |
6: 123,637,974 |
V219E |
probably damaging |
Het |
Zfand6 |
T |
A |
7: 84,615,834 |
I220F |
probably damaging |
Het |
|
Other mutations in Sdk2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00972:Sdk2
|
APN |
11 |
113854384 |
missense |
possibly damaging |
0.86 |
IGL01063:Sdk2
|
APN |
11 |
113830842 |
missense |
probably damaging |
1.00 |
IGL01291:Sdk2
|
APN |
11 |
113843080 |
missense |
probably benign |
|
IGL01316:Sdk2
|
APN |
11 |
113867965 |
missense |
probably benign |
0.09 |
IGL01614:Sdk2
|
APN |
11 |
113793858 |
missense |
probably damaging |
1.00 |
IGL01998:Sdk2
|
APN |
11 |
113838532 |
missense |
probably damaging |
0.98 |
IGL02014:Sdk2
|
APN |
11 |
113838494 |
missense |
probably damaging |
1.00 |
IGL02095:Sdk2
|
APN |
11 |
113834830 |
missense |
probably damaging |
1.00 |
IGL02115:Sdk2
|
APN |
11 |
113834813 |
splice site |
probably benign |
|
IGL02543:Sdk2
|
APN |
11 |
113868921 |
missense |
possibly damaging |
0.90 |
IGL02976:Sdk2
|
APN |
11 |
113851842 |
missense |
probably damaging |
1.00 |
IGL03001:Sdk2
|
APN |
11 |
113821626 |
missense |
probably benign |
0.00 |
IGL03122:Sdk2
|
APN |
11 |
113842068 |
missense |
probably damaging |
1.00 |
IGL03183:Sdk2
|
APN |
11 |
113850984 |
missense |
probably benign |
0.19 |
IGL03222:Sdk2
|
APN |
11 |
113838431 |
missense |
probably benign |
0.01 |
IGL03310:Sdk2
|
APN |
11 |
113793325 |
missense |
possibly damaging |
0.77 |
Curtailed
|
UTSW |
11 |
113851800 |
missense |
probably damaging |
1.00 |
Trimmed
|
UTSW |
11 |
113856696 |
nonsense |
probably null |
|
ANU05:Sdk2
|
UTSW |
11 |
113843080 |
missense |
probably benign |
|
BB008:Sdk2
|
UTSW |
11 |
113893441 |
missense |
possibly damaging |
0.79 |
BB018:Sdk2
|
UTSW |
11 |
113893441 |
missense |
possibly damaging |
0.79 |
R0008:Sdk2
|
UTSW |
11 |
113856755 |
missense |
probably damaging |
1.00 |
R0008:Sdk2
|
UTSW |
11 |
113856755 |
missense |
probably damaging |
1.00 |
R0088:Sdk2
|
UTSW |
11 |
113827086 |
missense |
possibly damaging |
0.74 |
R0096:Sdk2
|
UTSW |
11 |
113903144 |
splice site |
probably benign |
|
R0386:Sdk2
|
UTSW |
11 |
113893464 |
missense |
probably damaging |
0.96 |
R0396:Sdk2
|
UTSW |
11 |
113829967 |
missense |
probably benign |
0.04 |
R0409:Sdk2
|
UTSW |
11 |
113850891 |
splice site |
probably benign |
|
R0416:Sdk2
|
UTSW |
11 |
113803203 |
missense |
probably damaging |
1.00 |
R0456:Sdk2
|
UTSW |
11 |
113791466 |
missense |
possibly damaging |
0.93 |
R0544:Sdk2
|
UTSW |
11 |
113781010 |
missense |
probably damaging |
1.00 |
R0691:Sdk2
|
UTSW |
11 |
113794920 |
splice site |
probably null |
|
R0711:Sdk2
|
UTSW |
11 |
113903144 |
splice site |
probably benign |
|
R0717:Sdk2
|
UTSW |
11 |
113832326 |
missense |
probably damaging |
1.00 |
R0831:Sdk2
|
UTSW |
11 |
113832258 |
missense |
probably damaging |
0.96 |
R0853:Sdk2
|
UTSW |
11 |
113821415 |
missense |
probably benign |
0.00 |
R0865:Sdk2
|
UTSW |
11 |
113850922 |
missense |
probably benign |
0.12 |
R0930:Sdk2
|
UTSW |
11 |
113838445 |
missense |
probably benign |
0.01 |
R0964:Sdk2
|
UTSW |
11 |
113806417 |
splice site |
probably benign |
|
R1051:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1052:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1054:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1055:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1077:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1079:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1115:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1186:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1187:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1337:Sdk2
|
UTSW |
11 |
113832331 |
missense |
possibly damaging |
0.79 |
R1430:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1433:Sdk2
|
UTSW |
11 |
113795045 |
missense |
probably damaging |
0.99 |
R1464:Sdk2
|
UTSW |
11 |
113830080 |
missense |
possibly damaging |
0.86 |
R1464:Sdk2
|
UTSW |
11 |
113830080 |
missense |
possibly damaging |
0.86 |
R1497:Sdk2
|
UTSW |
11 |
113893575 |
splice site |
probably benign |
|
R1514:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1529:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1596:Sdk2
|
UTSW |
11 |
113838609 |
splice site |
probably benign |
|
R1680:Sdk2
|
UTSW |
11 |
113791436 |
missense |
possibly damaging |
0.47 |
R1680:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1770:Sdk2
|
UTSW |
11 |
113793741 |
missense |
probably benign |
0.05 |
R1858:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1866:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1874:Sdk2
|
UTSW |
11 |
113834956 |
missense |
probably benign |
0.00 |
R1899:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1905:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1907:Sdk2
|
UTSW |
11 |
113838646 |
synonymous |
silent |
|
R1913:Sdk2
|
UTSW |
11 |
113856726 |
missense |
possibly damaging |
0.77 |
R1964:Sdk2
|
UTSW |
11 |
113781017 |
nonsense |
probably null |
|
R2055:Sdk2
|
UTSW |
11 |
113850954 |
missense |
probably damaging |
1.00 |
R2059:Sdk2
|
UTSW |
11 |
113854332 |
missense |
probably damaging |
1.00 |
R2093:Sdk2
|
UTSW |
11 |
113943122 |
missense |
probably damaging |
1.00 |
R2256:Sdk2
|
UTSW |
11 |
113830794 |
missense |
probably benign |
0.44 |
R3720:Sdk2
|
UTSW |
11 |
113800244 |
missense |
probably damaging |
1.00 |
R3795:Sdk2
|
UTSW |
11 |
113856696 |
nonsense |
probably null |
|
R4037:Sdk2
|
UTSW |
11 |
113795055 |
missense |
probably damaging |
1.00 |
R4171:Sdk2
|
UTSW |
11 |
113866989 |
splice site |
probably null |
|
R4717:Sdk2
|
UTSW |
11 |
113854369 |
missense |
probably damaging |
0.96 |
R4758:Sdk2
|
UTSW |
11 |
113827054 |
missense |
possibly damaging |
0.87 |
R4857:Sdk2
|
UTSW |
11 |
113821382 |
nonsense |
probably null |
|
R4924:Sdk2
|
UTSW |
11 |
113857758 |
missense |
probably damaging |
1.00 |
R5015:Sdk2
|
UTSW |
11 |
113793761 |
missense |
probably damaging |
1.00 |
R5171:Sdk2
|
UTSW |
11 |
113850982 |
missense |
probably benign |
0.01 |
R5239:Sdk2
|
UTSW |
11 |
113868033 |
missense |
probably damaging |
1.00 |
R5243:Sdk2
|
UTSW |
11 |
113825086 |
missense |
possibly damaging |
0.76 |
R5279:Sdk2
|
UTSW |
11 |
113867031 |
missense |
probably benign |
0.31 |
R5535:Sdk2
|
UTSW |
11 |
113943158 |
missense |
possibly damaging |
0.80 |
R5634:Sdk2
|
UTSW |
11 |
113851714 |
missense |
probably damaging |
1.00 |
R5637:Sdk2
|
UTSW |
11 |
113833179 |
missense |
probably damaging |
1.00 |
R5726:Sdk2
|
UTSW |
11 |
113851800 |
missense |
probably damaging |
1.00 |
R5793:Sdk2
|
UTSW |
11 |
113868952 |
missense |
possibly damaging |
0.46 |
R5798:Sdk2
|
UTSW |
11 |
113827116 |
missense |
probably damaging |
1.00 |
R5834:Sdk2
|
UTSW |
11 |
113854273 |
missense |
probably damaging |
1.00 |
R5863:Sdk2
|
UTSW |
11 |
113834984 |
missense |
probably damaging |
0.98 |
R5869:Sdk2
|
UTSW |
11 |
113851882 |
missense |
probably damaging |
0.96 |
R5875:Sdk2
|
UTSW |
11 |
113830059 |
missense |
probably benign |
0.00 |
R5953:Sdk2
|
UTSW |
11 |
113793744 |
missense |
probably damaging |
1.00 |
R5991:Sdk2
|
UTSW |
11 |
113943254 |
missense |
probably damaging |
0.97 |
R6018:Sdk2
|
UTSW |
11 |
113830063 |
missense |
probably benign |
0.00 |
R6116:Sdk2
|
UTSW |
11 |
113854364 |
missense |
probably damaging |
0.99 |
R6328:Sdk2
|
UTSW |
11 |
113793755 |
missense |
probably damaging |
1.00 |
R6348:Sdk2
|
UTSW |
11 |
113893508 |
missense |
probably benign |
0.07 |
R6383:Sdk2
|
UTSW |
11 |
113832265 |
missense |
probably damaging |
1.00 |
R6824:Sdk2
|
UTSW |
11 |
113867934 |
missense |
probably benign |
0.43 |
R6835:Sdk2
|
UTSW |
11 |
113830048 |
missense |
probably damaging |
0.98 |
R6853:Sdk2
|
UTSW |
11 |
113780929 |
missense |
probably damaging |
0.99 |
R6912:Sdk2
|
UTSW |
11 |
113903120 |
missense |
probably benign |
0.03 |
R7000:Sdk2
|
UTSW |
11 |
113803169 |
missense |
probably damaging |
1.00 |
R7099:Sdk2
|
UTSW |
11 |
113834905 |
missense |
probably damaging |
0.98 |
R7102:Sdk2
|
UTSW |
11 |
113842690 |
nonsense |
probably null |
|
R7177:Sdk2
|
UTSW |
11 |
113829969 |
missense |
possibly damaging |
0.91 |
R7381:Sdk2
|
UTSW |
11 |
113838489 |
missense |
probably damaging |
0.98 |
R7412:Sdk2
|
UTSW |
11 |
113868083 |
splice site |
probably null |
|
R7504:Sdk2
|
UTSW |
11 |
113867967 |
missense |
possibly damaging |
0.50 |
R7552:Sdk2
|
UTSW |
11 |
113873213 |
missense |
possibly damaging |
0.63 |
R7604:Sdk2
|
UTSW |
11 |
113829969 |
missense |
possibly damaging |
0.91 |
R7647:Sdk2
|
UTSW |
11 |
113793737 |
missense |
probably damaging |
1.00 |
R7897:Sdk2
|
UTSW |
11 |
113873201 |
missense |
possibly damaging |
0.50 |
R7931:Sdk2
|
UTSW |
11 |
113893441 |
missense |
possibly damaging |
0.79 |
R7998:Sdk2
|
UTSW |
11 |
113859938 |
missense |
probably benign |
0.18 |
R8052:Sdk2
|
UTSW |
11 |
113854351 |
missense |
probably damaging |
1.00 |
R8053:Sdk2
|
UTSW |
11 |
113854351 |
missense |
probably damaging |
1.00 |
R8084:Sdk2
|
UTSW |
11 |
113827089 |
missense |
possibly damaging |
0.67 |
R8136:Sdk2
|
UTSW |
11 |
113851713 |
missense |
probably damaging |
1.00 |
R8151:Sdk2
|
UTSW |
11 |
113872857 |
missense |
possibly damaging |
0.84 |
R8394:Sdk2
|
UTSW |
11 |
113838716 |
missense |
probably benign |
|
R8715:Sdk2
|
UTSW |
11 |
113780902 |
missense |
probably damaging |
1.00 |
R8774:Sdk2
|
UTSW |
11 |
113839343 |
missense |
probably damaging |
1.00 |
R8774-TAIL:Sdk2
|
UTSW |
11 |
113839343 |
missense |
probably damaging |
1.00 |
R8804:Sdk2
|
UTSW |
11 |
113873152 |
nonsense |
probably null |
|
R9136:Sdk2
|
UTSW |
11 |
113806377 |
missense |
probably damaging |
1.00 |
R9147:Sdk2
|
UTSW |
11 |
113823400 |
missense |
probably benign |
0.18 |
R9300:Sdk2
|
UTSW |
11 |
113825030 |
missense |
possibly damaging |
0.63 |
R9354:Sdk2
|
UTSW |
11 |
113834931 |
missense |
probably benign |
0.00 |
R9450:Sdk2
|
UTSW |
11 |
113806279 |
missense |
probably benign |
|
R9462:Sdk2
|
UTSW |
11 |
113869918 |
missense |
possibly damaging |
0.56 |
RF002:Sdk2
|
UTSW |
11 |
113885252 |
missense |
probably benign |
0.00 |
V1662:Sdk2
|
UTSW |
11 |
113834908 |
missense |
probably damaging |
1.00 |
Z1176:Sdk2
|
UTSW |
11 |
113839322 |
missense |
probably benign |
0.41 |
Z1176:Sdk2
|
UTSW |
11 |
113851836 |
missense |
probably damaging |
0.97 |
Z1177:Sdk2
|
UTSW |
11 |
113838659 |
missense |
probably damaging |
0.99 |
Z1177:Sdk2
|
UTSW |
11 |
113839320 |
missense |
probably damaging |
1.00 |
Z1177:Sdk2
|
UTSW |
11 |
113859956 |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGGCTGTGTAACAGAACCACTGAG -3'
(R):5'- TGATGGGATGTGGGACACTCCAAG -3'
Sequencing Primer
(F):5'- CTTTGCATTTAGAGACTCCATCTG -3'
(R):5'- TGTGGGACACTCCAAGAAAGG -3'
|
Posted On |
2013-10-16 |