Mutagenetix > Incidental Mutation

Incidental Mutation 'R5863:Sdk2'

454019

Institutional Source

Beutler Lab

Gene Symbol

Sdk2

Ensembl Gene

ENSMUSG00000041592

Gene Name

sidekick cell adhesion molecule 2

Synonyms

4632412F08Rik, 5330435L01Rik

MMRRC Submission

043232-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5863 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

113667200-113957855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 113725810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1146 (D1146E)

Ref Sequence

ENSEMBL: ENSMUSP00000038972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041627]

AlphaFold

Q6V4S5

Predicted Effect

probably damaging
Transcript: ENSMUST00000041627
AA Change: D1146E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038972
Gene: ENSMUSG00000041592
AA Change: D1146E

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.4%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,580,287 (GRCm39)	I204T	possibly damaging	Het
Abcc2	A	G	19: 43,786,575 (GRCm39)	I136V	probably benign	Het
Adam6a	T	C	12: 113,507,987 (GRCm39)	I120T	probably benign	Het
Add3	C	A	19: 53,222,301 (GRCm39)	L303I	probably benign	Het
Anln	A	G	9: 22,249,280 (GRCm39)	L149P	probably damaging	Het
Arhgef4	A	G	1: 34,761,926 (GRCm39)	E394G	unknown	Het
Asns	G	A	6: 7,675,443 (GRCm39)	Q520*	probably null	Het
Auh	T	G	13: 53,052,694 (GRCm39)	N141T	probably benign	Het
B3galt2	G	A	1: 143,522,104 (GRCm39)	R80Q	probably benign	Het
Bcl9	T	C	3: 97,117,666 (GRCm39)	T343A	probably benign	Het
C3	T	A	17: 57,530,141 (GRCm39)	I487F	probably benign	Het
Cast	T	C	13: 74,884,875 (GRCm39)	K326E	probably damaging	Het
Ccdc185	T	A	1: 182,576,122 (GRCm39)	H189L	possibly damaging	Het
Cep112	A	G	11: 108,497,058 (GRCm39)	E51G	probably damaging	Het
Cpvl	G	A	6: 53,850,413 (GRCm39)	P475S	probably damaging	Het
Cstf2t	G	T	19: 31,060,477 (GRCm39)	L4F	probably damaging	Het
Dido1	A	G	2: 180,303,566 (GRCm39)	V1446A	probably benign	Het
Dlg2	T	A	7: 91,360,987 (GRCm39)	M35K	probably benign	Het
Dnah12	C	T	14: 26,576,878 (GRCm39)	L3043F	probably damaging	Het
Fam135a	A	G	1: 24,053,863 (GRCm39)	S1225P	possibly damaging	Het
Fhod3	T	C	18: 25,258,810 (GRCm39)	F1443S	probably benign	Het
Flacc1	G	T	1: 58,730,908 (GRCm39)	H49Q	probably benign	Het
Gm14226	C	A	2: 154,866,211 (GRCm39)	T56N	probably benign	Het
Itgb4	C	T	11: 115,881,748 (GRCm39)	R766W	probably damaging	Het
Kcnj8	T	A	6: 142,511,414 (GRCm39)	I398F	probably benign	Het
Khdrbs1	G	A	4: 129,616,493 (GRCm39)	R284C	probably damaging	Het
Nog	A	G	11: 89,192,356 (GRCm39)	L164P	probably damaging	Het
Or13a18	G	A	7: 140,190,544 (GRCm39)	G155D	probably damaging	Het
Or8c20	T	C	9: 38,261,083 (GRCm39)	S235P	probably benign	Het
Pkhd1	T	A	1: 20,590,434 (GRCm39)	Q1771L	possibly damaging	Het
Prl3c1	T	A	13: 27,387,593 (GRCm39)	*193K	probably null	Het
Prpf4b	T	A	13: 35,083,111 (GRCm39)	I829N	possibly damaging	Het
Rassf1	C	T	9: 107,435,023 (GRCm39)	P103S	probably damaging	Het
Rdh16f2	A	C	10: 127,712,256 (GRCm39)	I238L	probably benign	Het
Slc16a3	T	C	11: 120,848,779 (GRCm39)	F412L	probably benign	Het
Slc24a1	T	C	9: 64,835,824 (GRCm39)	T768A	unknown	Het
Stk32a	A	G	18: 43,448,209 (GRCm39)	N396S	probably benign	Het
Ston1	T	C	17: 88,943,373 (GRCm39)	S260P	possibly damaging	Het
Tmem135	A	G	7: 88,797,176 (GRCm39)		probably null	Het
Tmem30c	A	G	16: 57,090,418 (GRCm39)	V263A	probably benign	Het
Ttn	T	A	2: 76,587,102 (GRCm39)	T21632S	probably damaging	Het
Ube2w	A	G	1: 16,655,531 (GRCm39)	I141T	probably damaging	Het
Zbtb47	A	G	9: 121,596,596 (GRCm39)	S651G	probably benign	Het
Zscan20	A	T	4: 128,480,141 (GRCm39)	C783*	probably null	Het

Other mutations in Sdk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Sdk2	APN	11	113,745,210 (GRCm39)	missense	possibly damaging	0.86
IGL01063:Sdk2	APN	11	113,721,668 (GRCm39)	missense	probably damaging	1.00
IGL01291:Sdk2	APN	11	113,733,906 (GRCm39)	missense	probably benign
IGL01316:Sdk2	APN	11	113,758,791 (GRCm39)	missense	probably benign	0.09
IGL01614:Sdk2	APN	11	113,684,684 (GRCm39)	missense	probably damaging	1.00
IGL01998:Sdk2	APN	11	113,729,358 (GRCm39)	missense	probably damaging	0.98
IGL02014:Sdk2	APN	11	113,729,320 (GRCm39)	missense	probably damaging	1.00
IGL02095:Sdk2	APN	11	113,725,656 (GRCm39)	missense	probably damaging	1.00
IGL02115:Sdk2	APN	11	113,725,639 (GRCm39)	splice site	probably benign
IGL02543:Sdk2	APN	11	113,759,747 (GRCm39)	missense	possibly damaging	0.90
IGL02976:Sdk2	APN	11	113,742,668 (GRCm39)	missense	probably damaging	1.00
IGL03001:Sdk2	APN	11	113,712,452 (GRCm39)	missense	probably benign	0.00
IGL03122:Sdk2	APN	11	113,732,894 (GRCm39)	missense	probably damaging	1.00
IGL03183:Sdk2	APN	11	113,741,810 (GRCm39)	missense	probably benign	0.19
IGL03222:Sdk2	APN	11	113,729,257 (GRCm39)	missense	probably benign	0.01
IGL03310:Sdk2	APN	11	113,684,151 (GRCm39)	missense	possibly damaging	0.77
Curtailed	UTSW	11	113,742,626 (GRCm39)	missense	probably damaging	1.00
Trimmed	UTSW	11	113,747,522 (GRCm39)	nonsense	probably null
ANU05:Sdk2	UTSW	11	113,733,906 (GRCm39)	missense	probably benign
BB008:Sdk2	UTSW	11	113,784,267 (GRCm39)	missense	possibly damaging	0.79
BB018:Sdk2	UTSW	11	113,784,267 (GRCm39)	missense	possibly damaging	0.79
R0008:Sdk2	UTSW	11	113,747,581 (GRCm39)	missense	probably damaging	1.00
R0008:Sdk2	UTSW	11	113,747,581 (GRCm39)	missense	probably damaging	1.00
R0088:Sdk2	UTSW	11	113,717,912 (GRCm39)	missense	possibly damaging	0.74
R0096:Sdk2	UTSW	11	113,793,970 (GRCm39)	splice site	probably benign
R0386:Sdk2	UTSW	11	113,784,290 (GRCm39)	missense	probably damaging	0.96
R0396:Sdk2	UTSW	11	113,720,793 (GRCm39)	missense	probably benign	0.04
R0409:Sdk2	UTSW	11	113,741,717 (GRCm39)	splice site	probably benign
R0416:Sdk2	UTSW	11	113,694,029 (GRCm39)	missense	probably damaging	1.00
R0456:Sdk2	UTSW	11	113,682,292 (GRCm39)	missense	possibly damaging	0.93
R0544:Sdk2	UTSW	11	113,671,836 (GRCm39)	missense	probably damaging	1.00
R0691:Sdk2	UTSW	11	113,685,746 (GRCm39)	splice site	probably null
R0711:Sdk2	UTSW	11	113,793,970 (GRCm39)	splice site	probably benign
R0717:Sdk2	UTSW	11	113,723,152 (GRCm39)	missense	probably damaging	1.00
R0780:Sdk2	UTSW	11	113,784,334 (GRCm39)	missense	probably benign	0.07
R0831:Sdk2	UTSW	11	113,723,084 (GRCm39)	missense	probably damaging	0.96
R0853:Sdk2	UTSW	11	113,712,241 (GRCm39)	missense	probably benign	0.00
R0865:Sdk2	UTSW	11	113,741,748 (GRCm39)	missense	probably benign	0.12
R0930:Sdk2	UTSW	11	113,729,271 (GRCm39)	missense	probably benign	0.01
R0964:Sdk2	UTSW	11	113,697,243 (GRCm39)	splice site	probably benign
R1051:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1052:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1054:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1055:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1077:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1079:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1115:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1186:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1187:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1337:Sdk2	UTSW	11	113,723,157 (GRCm39)	missense	possibly damaging	0.79
R1430:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1433:Sdk2	UTSW	11	113,685,871 (GRCm39)	missense	probably damaging	0.99
R1464:Sdk2	UTSW	11	113,720,906 (GRCm39)	missense	possibly damaging	0.86
R1464:Sdk2	UTSW	11	113,720,906 (GRCm39)	missense	possibly damaging	0.86
R1497:Sdk2	UTSW	11	113,784,401 (GRCm39)	splice site	probably benign
R1514:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1529:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1596:Sdk2	UTSW	11	113,729,435 (GRCm39)	splice site	probably benign
R1680:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1680:Sdk2	UTSW	11	113,682,262 (GRCm39)	missense	possibly damaging	0.47
R1770:Sdk2	UTSW	11	113,684,567 (GRCm39)	missense	probably benign	0.05
R1858:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1866:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1874:Sdk2	UTSW	11	113,725,782 (GRCm39)	missense	probably benign	0.00
R1899:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1905:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1907:Sdk2	UTSW	11	113,729,472 (GRCm39)	synonymous	silent
R1913:Sdk2	UTSW	11	113,747,552 (GRCm39)	missense	possibly damaging	0.77
R1964:Sdk2	UTSW	11	113,671,843 (GRCm39)	nonsense	probably null
R2055:Sdk2	UTSW	11	113,741,780 (GRCm39)	missense	probably damaging	1.00
R2059:Sdk2	UTSW	11	113,745,158 (GRCm39)	missense	probably damaging	1.00
R2093:Sdk2	UTSW	11	113,833,948 (GRCm39)	missense	probably damaging	1.00
R2256:Sdk2	UTSW	11	113,721,620 (GRCm39)	missense	probably benign	0.44
R3720:Sdk2	UTSW	11	113,691,070 (GRCm39)	missense	probably damaging	1.00
R3795:Sdk2	UTSW	11	113,747,522 (GRCm39)	nonsense	probably null
R4037:Sdk2	UTSW	11	113,685,881 (GRCm39)	missense	probably damaging	1.00
R4171:Sdk2	UTSW	11	113,757,815 (GRCm39)	splice site	probably null
R4717:Sdk2	UTSW	11	113,745,195 (GRCm39)	missense	probably damaging	0.96
R4758:Sdk2	UTSW	11	113,717,880 (GRCm39)	missense	possibly damaging	0.87
R4857:Sdk2	UTSW	11	113,712,208 (GRCm39)	nonsense	probably null
R4924:Sdk2	UTSW	11	113,748,584 (GRCm39)	missense	probably damaging	1.00
R5015:Sdk2	UTSW	11	113,684,587 (GRCm39)	missense	probably damaging	1.00
R5171:Sdk2	UTSW	11	113,741,808 (GRCm39)	missense	probably benign	0.01
R5239:Sdk2	UTSW	11	113,758,859 (GRCm39)	missense	probably damaging	1.00
R5243:Sdk2	UTSW	11	113,715,912 (GRCm39)	missense	possibly damaging	0.76
R5279:Sdk2	UTSW	11	113,757,857 (GRCm39)	missense	probably benign	0.31
R5535:Sdk2	UTSW	11	113,833,984 (GRCm39)	missense	possibly damaging	0.80
R5634:Sdk2	UTSW	11	113,742,540 (GRCm39)	missense	probably damaging	1.00
R5637:Sdk2	UTSW	11	113,724,005 (GRCm39)	missense	probably damaging	1.00
R5726:Sdk2	UTSW	11	113,742,626 (GRCm39)	missense	probably damaging	1.00
R5793:Sdk2	UTSW	11	113,759,778 (GRCm39)	missense	possibly damaging	0.46
R5798:Sdk2	UTSW	11	113,717,942 (GRCm39)	missense	probably damaging	1.00
R5834:Sdk2	UTSW	11	113,745,099 (GRCm39)	missense	probably damaging	1.00
R5869:Sdk2	UTSW	11	113,742,708 (GRCm39)	missense	probably damaging	0.96
R5875:Sdk2	UTSW	11	113,720,885 (GRCm39)	missense	probably benign	0.00
R5953:Sdk2	UTSW	11	113,684,570 (GRCm39)	missense	probably damaging	1.00
R5991:Sdk2	UTSW	11	113,834,080 (GRCm39)	missense	probably damaging	0.97
R6018:Sdk2	UTSW	11	113,720,889 (GRCm39)	missense	probably benign	0.00
R6116:Sdk2	UTSW	11	113,745,190 (GRCm39)	missense	probably damaging	0.99
R6328:Sdk2	UTSW	11	113,684,581 (GRCm39)	missense	probably damaging	1.00
R6348:Sdk2	UTSW	11	113,784,334 (GRCm39)	missense	probably benign	0.07
R6383:Sdk2	UTSW	11	113,723,091 (GRCm39)	missense	probably damaging	1.00
R6824:Sdk2	UTSW	11	113,758,760 (GRCm39)	missense	probably benign	0.43
R6835:Sdk2	UTSW	11	113,720,874 (GRCm39)	missense	probably damaging	0.98
R6853:Sdk2	UTSW	11	113,671,755 (GRCm39)	missense	probably damaging	0.99
R6912:Sdk2	UTSW	11	113,793,946 (GRCm39)	missense	probably benign	0.03
R7000:Sdk2	UTSW	11	113,693,995 (GRCm39)	missense	probably damaging	1.00
R7099:Sdk2	UTSW	11	113,725,731 (GRCm39)	missense	probably damaging	0.98
R7102:Sdk2	UTSW	11	113,733,516 (GRCm39)	nonsense	probably null
R7177:Sdk2	UTSW	11	113,720,795 (GRCm39)	missense	possibly damaging	0.91
R7381:Sdk2	UTSW	11	113,729,315 (GRCm39)	missense	probably damaging	0.98
R7412:Sdk2	UTSW	11	113,758,909 (GRCm39)	splice site	probably null
R7504:Sdk2	UTSW	11	113,758,793 (GRCm39)	missense	possibly damaging	0.50
R7552:Sdk2	UTSW	11	113,764,039 (GRCm39)	missense	possibly damaging	0.63
R7604:Sdk2	UTSW	11	113,720,795 (GRCm39)	missense	possibly damaging	0.91
R7647:Sdk2	UTSW	11	113,684,563 (GRCm39)	missense	probably damaging	1.00
R7897:Sdk2	UTSW	11	113,764,027 (GRCm39)	missense	possibly damaging	0.50
R7931:Sdk2	UTSW	11	113,784,267 (GRCm39)	missense	possibly damaging	0.79
R7998:Sdk2	UTSW	11	113,750,764 (GRCm39)	missense	probably benign	0.18
R8052:Sdk2	UTSW	11	113,745,177 (GRCm39)	missense	probably damaging	1.00
R8053:Sdk2	UTSW	11	113,745,177 (GRCm39)	missense	probably damaging	1.00
R8084:Sdk2	UTSW	11	113,717,915 (GRCm39)	missense	possibly damaging	0.67
R8136:Sdk2	UTSW	11	113,742,539 (GRCm39)	missense	probably damaging	1.00
R8151:Sdk2	UTSW	11	113,763,683 (GRCm39)	missense	possibly damaging	0.84
R8394:Sdk2	UTSW	11	113,729,542 (GRCm39)	missense	probably benign
R8715:Sdk2	UTSW	11	113,671,728 (GRCm39)	missense	probably damaging	1.00
R8774:Sdk2	UTSW	11	113,730,169 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Sdk2	UTSW	11	113,730,169 (GRCm39)	missense	probably damaging	1.00
R8804:Sdk2	UTSW	11	113,763,978 (GRCm39)	nonsense	probably null
R9136:Sdk2	UTSW	11	113,697,203 (GRCm39)	missense	probably damaging	1.00
R9147:Sdk2	UTSW	11	113,714,226 (GRCm39)	missense	probably benign	0.18
R9300:Sdk2	UTSW	11	113,715,856 (GRCm39)	missense	possibly damaging	0.63
R9354:Sdk2	UTSW	11	113,725,757 (GRCm39)	missense	probably benign	0.00
R9450:Sdk2	UTSW	11	113,697,105 (GRCm39)	missense	probably benign
R9462:Sdk2	UTSW	11	113,760,744 (GRCm39)	missense	possibly damaging	0.56
R9616:Sdk2	UTSW	11	113,691,061 (GRCm39)	missense	probably benign	0.05
R9678:Sdk2	UTSW	11	113,685,789 (GRCm39)	nonsense	probably null
RF002:Sdk2	UTSW	11	113,776,078 (GRCm39)	missense	probably benign	0.00
V1662:Sdk2	UTSW	11	113,725,734 (GRCm39)	missense	probably damaging	1.00
Z1176:Sdk2	UTSW	11	113,742,662 (GRCm39)	missense	probably damaging	0.97
Z1176:Sdk2	UTSW	11	113,730,148 (GRCm39)	missense	probably benign	0.41
Z1177:Sdk2	UTSW	11	113,750,782 (GRCm39)	missense	probably benign
Z1177:Sdk2	UTSW	11	113,730,146 (GRCm39)	missense	probably damaging	1.00
Z1177:Sdk2	UTSW	11	113,729,485 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTTGGATGGTCCCAGAGGAAG -3'
(R):5'- TGGAAACAATGCTCCACTGG -3'

Sequencing Primer
(F):5'- GAGGAGCTGTGGTACCTGACTC -3'
(R):5'- AATGCTCCACTGGGGATAGCAC -3'

Posted On

2017-02-10