Mutagenetix > Incidental Mutation

Incidental Mutation 'R0780:Sdk2'

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

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R0780 (G1)

Quality Score

225

Status

Not validated

Chromosome

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 (GRCm38)	R167C	probably damaging	Het
Ahsa1	T	C	12: 87,268,328 (GRCm38)	I85T	probably benign	Het
Btaf1	T	C	19: 36,988,922 (GRCm38)	L1030S	probably damaging	Het
Ccdc163	A	G	4: 116,712,407 (GRCm38)	K222E	probably benign	Het
Cpsf1	A	G	15: 76,600,377 (GRCm38)	F635L	probably benign	Het
Cubn	G	A	2: 13,456,613 (GRCm38)	T701M	probably damaging	Het
Cxcr2	T	A	1: 74,159,175 (GRCm38)	M276K	probably damaging	Het
Daam1	T	A	12: 71,947,050 (GRCm38)	I409K	unknown	Het
Dnah10	G	T	5: 124,750,812 (GRCm38)	G741W	possibly damaging	Het
Ica1l	A	G	1: 59,997,449 (GRCm38)		probably null	Het
Ifi208	A	G	1: 173,682,696 (GRCm38)	D139G	probably benign	Het
Kat2b	T	A	17: 53,567,448 (GRCm38)	V40E	unknown	Het
Kmt2d	G	T	15: 98,862,857 (GRCm38)	P871T	unknown	Het
Lats2	A	T	14: 57,691,296 (GRCm38)	Y1041N	probably damaging	Het
Lifr	C	T	15: 7,177,466 (GRCm38)	T486I	probably benign	Het
Mtmr4	T	A	11: 87,611,440 (GRCm38)	D773E	probably benign	Het
Ptgds	A	G	2: 25,468,092 (GRCm38)	F143S	possibly damaging	Het
Rp1l1	A	G	14: 64,030,351 (GRCm38)	S1129G	possibly damaging	Het
Slc12a8	G	A	16: 33,646,665 (GRCm38)		probably null	Het
Thsd7a	A	G	6: 12,337,274 (GRCm38)	V1248A	probably damaging	Het
Tpr	T	A	1: 150,431,341 (GRCm38)	H1562Q	probably benign	Het
Uba3	G	A	6: 97,186,705 (GRCm38)	R294*	probably null	Het
Vmn2r22	A	T	6: 123,637,974 (GRCm38)	V219E	probably damaging	Het
Zfand6	T	A	7: 84,615,834 (GRCm38)	I220F	probably damaging	Het

Other mutations in Sdk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Sdk2	APN	11	113,854,384 (GRCm38)	missense	possibly damaging	0.86
IGL01063:Sdk2	APN	11	113,830,842 (GRCm38)	missense	probably damaging	1.00
IGL01291:Sdk2	APN	11	113,843,080 (GRCm38)	missense	probably benign
IGL01316:Sdk2	APN	11	113,867,965 (GRCm38)	missense	probably benign	0.09
IGL01614:Sdk2	APN	11	113,793,858 (GRCm38)	missense	probably damaging	1.00
IGL01998:Sdk2	APN	11	113,838,532 (GRCm38)	missense	probably damaging	0.98
IGL02014:Sdk2	APN	11	113,838,494 (GRCm38)	missense	probably damaging	1.00
IGL02095:Sdk2	APN	11	113,834,830 (GRCm38)	missense	probably damaging	1.00
IGL02115:Sdk2	APN	11	113,834,813 (GRCm38)	splice site	probably benign
IGL02543:Sdk2	APN	11	113,868,921 (GRCm38)	missense	possibly damaging	0.90
IGL02976:Sdk2	APN	11	113,851,842 (GRCm38)	missense	probably damaging	1.00
IGL03001:Sdk2	APN	11	113,821,626 (GRCm38)	missense	probably benign	0.00
IGL03122:Sdk2	APN	11	113,842,068 (GRCm38)	missense	probably damaging	1.00
IGL03183:Sdk2	APN	11	113,850,984 (GRCm38)	missense	probably benign	0.19
IGL03222:Sdk2	APN	11	113,838,431 (GRCm38)	missense	probably benign	0.01
IGL03310:Sdk2	APN	11	113,793,325 (GRCm38)	missense	possibly damaging	0.77
Curtailed	UTSW	11	113,851,800 (GRCm38)	missense	probably damaging	1.00
Trimmed	UTSW	11	113,856,696 (GRCm38)	nonsense	probably null
ANU05:Sdk2	UTSW	11	113,843,080 (GRCm38)	missense	probably benign
BB008:Sdk2	UTSW	11	113,893,441 (GRCm38)	missense	possibly damaging	0.79
BB018:Sdk2	UTSW	11	113,893,441 (GRCm38)	missense	possibly damaging	0.79
R0008:Sdk2	UTSW	11	113,856,755 (GRCm38)	missense	probably damaging	1.00
R0008:Sdk2	UTSW	11	113,856,755 (GRCm38)	missense	probably damaging	1.00
R0088:Sdk2	UTSW	11	113,827,086 (GRCm38)	missense	possibly damaging	0.74
R0096:Sdk2	UTSW	11	113,903,144 (GRCm38)	splice site	probably benign
R0386:Sdk2	UTSW	11	113,893,464 (GRCm38)	missense	probably damaging	0.96
R0396:Sdk2	UTSW	11	113,829,967 (GRCm38)	missense	probably benign	0.04
R0409:Sdk2	UTSW	11	113,850,891 (GRCm38)	splice site	probably benign
R0416:Sdk2	UTSW	11	113,803,203 (GRCm38)	missense	probably damaging	1.00
R0456:Sdk2	UTSW	11	113,791,466 (GRCm38)	missense	possibly damaging	0.93
R0544:Sdk2	UTSW	11	113,781,010 (GRCm38)	missense	probably damaging	1.00
R0691:Sdk2	UTSW	11	113,794,920 (GRCm38)	splice site	probably null
R0711:Sdk2	UTSW	11	113,903,144 (GRCm38)	splice site	probably benign
R0717:Sdk2	UTSW	11	113,832,326 (GRCm38)	missense	probably damaging	1.00
R0831:Sdk2	UTSW	11	113,832,258 (GRCm38)	missense	probably damaging	0.96
R0853:Sdk2	UTSW	11	113,821,415 (GRCm38)	missense	probably benign	0.00
R0865:Sdk2	UTSW	11	113,850,922 (GRCm38)	missense	probably benign	0.12
R0930:Sdk2	UTSW	11	113,838,445 (GRCm38)	missense	probably benign	0.01
R0964:Sdk2	UTSW	11	113,806,417 (GRCm38)	splice site	probably benign
R1051:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1052:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1054:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1055:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1077:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1079:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1115:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1186:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1187:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1337:Sdk2	UTSW	11	113,832,331 (GRCm38)	missense	possibly damaging	0.79
R1430:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1433:Sdk2	UTSW	11	113,795,045 (GRCm38)	missense	probably damaging	0.99
R1464:Sdk2	UTSW	11	113,830,080 (GRCm38)	missense	possibly damaging	0.86
R1464:Sdk2	UTSW	11	113,830,080 (GRCm38)	missense	possibly damaging	0.86
R1497:Sdk2	UTSW	11	113,893,575 (GRCm38)	splice site	probably benign
R1514:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1529:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1596:Sdk2	UTSW	11	113,838,609 (GRCm38)	splice site	probably benign
R1680:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1680:Sdk2	UTSW	11	113,791,436 (GRCm38)	missense	possibly damaging	0.47
R1770:Sdk2	UTSW	11	113,793,741 (GRCm38)	missense	probably benign	0.05
R1858:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1866:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1874:Sdk2	UTSW	11	113,834,956 (GRCm38)	missense	probably benign	0.00
R1899:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1905:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1907:Sdk2	UTSW	11	113,838,646 (GRCm38)	synonymous	silent
R1913:Sdk2	UTSW	11	113,856,726 (GRCm38)	missense	possibly damaging	0.77
R1964:Sdk2	UTSW	11	113,781,017 (GRCm38)	nonsense	probably null
R2055:Sdk2	UTSW	11	113,850,954 (GRCm38)	missense	probably damaging	1.00
R2059:Sdk2	UTSW	11	113,854,332 (GRCm38)	missense	probably damaging	1.00
R2093:Sdk2	UTSW	11	113,943,122 (GRCm38)	missense	probably damaging	1.00
R2256:Sdk2	UTSW	11	113,830,794 (GRCm38)	missense	probably benign	0.44
R3720:Sdk2	UTSW	11	113,800,244 (GRCm38)	missense	probably damaging	1.00
R3795:Sdk2	UTSW	11	113,856,696 (GRCm38)	nonsense	probably null
R4037:Sdk2	UTSW	11	113,795,055 (GRCm38)	missense	probably damaging	1.00
R4171:Sdk2	UTSW	11	113,866,989 (GRCm38)	splice site	probably null
R4717:Sdk2	UTSW	11	113,854,369 (GRCm38)	missense	probably damaging	0.96
R4758:Sdk2	UTSW	11	113,827,054 (GRCm38)	missense	possibly damaging	0.87
R4857:Sdk2	UTSW	11	113,821,382 (GRCm38)	nonsense	probably null
R4924:Sdk2	UTSW	11	113,857,758 (GRCm38)	missense	probably damaging	1.00
R5015:Sdk2	UTSW	11	113,793,761 (GRCm38)	missense	probably damaging	1.00
R5171:Sdk2	UTSW	11	113,850,982 (GRCm38)	missense	probably benign	0.01
R5239:Sdk2	UTSW	11	113,868,033 (GRCm38)	missense	probably damaging	1.00
R5243:Sdk2	UTSW	11	113,825,086 (GRCm38)	missense	possibly damaging	0.76
R5279:Sdk2	UTSW	11	113,867,031 (GRCm38)	missense	probably benign	0.31
R5535:Sdk2	UTSW	11	113,943,158 (GRCm38)	missense	possibly damaging	0.80
R5634:Sdk2	UTSW	11	113,851,714 (GRCm38)	missense	probably damaging	1.00
R5637:Sdk2	UTSW	11	113,833,179 (GRCm38)	missense	probably damaging	1.00
R5726:Sdk2	UTSW	11	113,851,800 (GRCm38)	missense	probably damaging	1.00
R5793:Sdk2	UTSW	11	113,868,952 (GRCm38)	missense	possibly damaging	0.46
R5798:Sdk2	UTSW	11	113,827,116 (GRCm38)	missense	probably damaging	1.00
R5834:Sdk2	UTSW	11	113,854,273 (GRCm38)	missense	probably damaging	1.00
R5863:Sdk2	UTSW	11	113,834,984 (GRCm38)	missense	probably damaging	0.98
R5869:Sdk2	UTSW	11	113,851,882 (GRCm38)	missense	probably damaging	0.96
R5875:Sdk2	UTSW	11	113,830,059 (GRCm38)	missense	probably benign	0.00
R5953:Sdk2	UTSW	11	113,793,744 (GRCm38)	missense	probably damaging	1.00
R5991:Sdk2	UTSW	11	113,943,254 (GRCm38)	missense	probably damaging	0.97
R6018:Sdk2	UTSW	11	113,830,063 (GRCm38)	missense	probably benign	0.00
R6116:Sdk2	UTSW	11	113,854,364 (GRCm38)	missense	probably damaging	0.99
R6328:Sdk2	UTSW	11	113,793,755 (GRCm38)	missense	probably damaging	1.00
R6348:Sdk2	UTSW	11	113,893,508 (GRCm38)	missense	probably benign	0.07
R6383:Sdk2	UTSW	11	113,832,265 (GRCm38)	missense	probably damaging	1.00
R6824:Sdk2	UTSW	11	113,867,934 (GRCm38)	missense	probably benign	0.43
R6835:Sdk2	UTSW	11	113,830,048 (GRCm38)	missense	probably damaging	0.98
R6853:Sdk2	UTSW	11	113,780,929 (GRCm38)	missense	probably damaging	0.99
R6912:Sdk2	UTSW	11	113,903,120 (GRCm38)	missense	probably benign	0.03
R7000:Sdk2	UTSW	11	113,803,169 (GRCm38)	missense	probably damaging	1.00
R7099:Sdk2	UTSW	11	113,834,905 (GRCm38)	missense	probably damaging	0.98
R7102:Sdk2	UTSW	11	113,842,690 (GRCm38)	nonsense	probably null
R7177:Sdk2	UTSW	11	113,829,969 (GRCm38)	missense	possibly damaging	0.91
R7381:Sdk2	UTSW	11	113,838,489 (GRCm38)	missense	probably damaging	0.98
R7412:Sdk2	UTSW	11	113,868,083 (GRCm38)	splice site	probably null
R7504:Sdk2	UTSW	11	113,867,967 (GRCm38)	missense	possibly damaging	0.50
R7552:Sdk2	UTSW	11	113,873,213 (GRCm38)	missense	possibly damaging	0.63
R7604:Sdk2	UTSW	11	113,829,969 (GRCm38)	missense	possibly damaging	0.91
R7647:Sdk2	UTSW	11	113,793,737 (GRCm38)	missense	probably damaging	1.00
R7897:Sdk2	UTSW	11	113,873,201 (GRCm38)	missense	possibly damaging	0.50
R7931:Sdk2	UTSW	11	113,893,441 (GRCm38)	missense	possibly damaging	0.79
R7998:Sdk2	UTSW	11	113,859,938 (GRCm38)	missense	probably benign	0.18
R8052:Sdk2	UTSW	11	113,854,351 (GRCm38)	missense	probably damaging	1.00
R8053:Sdk2	UTSW	11	113,854,351 (GRCm38)	missense	probably damaging	1.00
R8084:Sdk2	UTSW	11	113,827,089 (GRCm38)	missense	possibly damaging	0.67
R8136:Sdk2	UTSW	11	113,851,713 (GRCm38)	missense	probably damaging	1.00
R8151:Sdk2	UTSW	11	113,872,857 (GRCm38)	missense	possibly damaging	0.84
R8394:Sdk2	UTSW	11	113,838,716 (GRCm38)	missense	probably benign
R8715:Sdk2	UTSW	11	113,780,902 (GRCm38)	missense	probably damaging	1.00
R8774:Sdk2	UTSW	11	113,839,343 (GRCm38)	missense	probably damaging	1.00
R8774-TAIL:Sdk2	UTSW	11	113,839,343 (GRCm38)	missense	probably damaging	1.00
R8804:Sdk2	UTSW	11	113,873,152 (GRCm38)	nonsense	probably null
R9136:Sdk2	UTSW	11	113,806,377 (GRCm38)	missense	probably damaging	1.00
R9147:Sdk2	UTSW	11	113,823,400 (GRCm38)	missense	probably benign	0.18
R9300:Sdk2	UTSW	11	113,825,030 (GRCm38)	missense	possibly damaging	0.63
R9354:Sdk2	UTSW	11	113,834,931 (GRCm38)	missense	probably benign	0.00
R9450:Sdk2	UTSW	11	113,806,279 (GRCm38)	missense	probably benign
R9462:Sdk2	UTSW	11	113,869,918 (GRCm38)	missense	possibly damaging	0.56
R9616:Sdk2	UTSW	11	113,800,235 (GRCm38)	missense	probably benign	0.05
R9678:Sdk2	UTSW	11	113,794,963 (GRCm38)	nonsense	probably null
RF002:Sdk2	UTSW	11	113,885,252 (GRCm38)	missense	probably benign	0.00
V1662:Sdk2	UTSW	11	113,834,908 (GRCm38)	missense	probably damaging	1.00
Z1176:Sdk2	UTSW	11	113,851,836 (GRCm38)	missense	probably damaging	0.97
Z1176:Sdk2	UTSW	11	113,839,322 (GRCm38)	missense	probably benign	0.41
Z1177:Sdk2	UTSW	11	113,859,956 (GRCm38)	missense	probably benign
Z1177:Sdk2	UTSW	11	113,839,320 (GRCm38)	missense	probably damaging	1.00
Z1177:Sdk2	UTSW	11	113,838,659 (GRCm38)	missense	probably damaging	0.99

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