Mutagenetix > Incidental Mutation

Incidental Mutation 'R0930:Sdk2'

80796

Institutional Source

Beutler Lab

Gene Symbol

Sdk2

Ensembl Gene

ENSMUSG00000041592

Gene Name

sidekick cell adhesion molecule 2

Synonyms

5330435L01Rik, 4632412F08Rik

Accession Numbers

Essential gene?

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

Stock #

R0930 (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 113838445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1102 (I1102T)

Ref Sequence

ENSEMBL: ENSMUSP00000038972 (fasta)

Gene Model

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

AlphaFold

Q6V4S5

Predicted Effect

probably benign
Transcript: ENSMUST00000041627
AA Change: I1102T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000038972
Gene: ENSMUSG00000041592
AA Change: I1102T

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.5%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	T	7: 28,140,130 (GRCm38)	Y456F	probably damaging	Het
Abcg8	G	T	17: 84,683,277 (GRCm38)	V16L	probably benign	Het
Adamts18	A	T	8: 113,705,396 (GRCm38)		probably null	Het
Agpat4	A	T	17: 12,198,836 (GRCm38)	E88V	probably damaging	Het
Ahcyl2	A	C	6: 29,870,628 (GRCm38)		probably null	Het
Ankrd2	T	A	19: 42,043,853 (GRCm38)		probably null	Het
Anxa6	A	T	11: 54,994,388 (GRCm38)		probably null	Het
Bpi	A	G	2: 158,261,426 (GRCm38)	I114V	possibly damaging	Het
Cacna1c	A	T	6: 118,675,896 (GRCm38)	I772N	probably damaging	Het
Cacna2d1	A	G	5: 16,365,862 (GRCm38)	N1045D	possibly damaging	Het
Caprin2	T	C	6: 148,883,511 (GRCm38)		probably null	Het
Cars	T	A	7: 143,570,570 (GRCm38)	H373L	probably damaging	Het
Ccdc191	G	T	16: 43,931,255 (GRCm38)	G316V	probably damaging	Het
Cd244	T	A	1: 171,577,233 (GRCm38)		probably null	Het
Ces1a	C	T	8: 93,022,416 (GRCm38)	D456N	probably benign	Het
Cul3	A	T	1: 80,290,118 (GRCm38)	M102K	probably damaging	Het
Dact1	A	G	12: 71,318,460 (GRCm38)	R672G	probably damaging	Het
Dapk1	T	C	13: 60,757,448 (GRCm38)	F991L	probably benign	Het
Dlg5	G	A	14: 24,135,577 (GRCm38)	P1920L	probably damaging	Het
Eme2	G	A	17: 24,892,918 (GRCm38)	S263F	probably damaging	Het
Exosc4	A	G	15: 76,327,534 (GRCm38)	I14M	probably benign	Het
Ezr	G	A	17: 6,753,999 (GRCm38)	R180*	probably null	Het
Fyb	A	T	15: 6,638,828 (GRCm38)	I501F	probably damaging	Het
Hdac5	G	T	11: 102,204,646 (GRCm38)	P383Q	probably benign	Het
Hmx3	A	T	7: 131,543,084 (GRCm38)	H41L	probably benign	Het
Krt36	A	G	11: 100,103,399 (GRCm38)	F284S	probably damaging	Het
L1td1	A	G	4: 98,737,625 (GRCm38)	N686D	probably damaging	Het
Lsamp	G	A	16: 41,888,964 (GRCm38)	G86S	probably benign	Het
Myh8	A	G	11: 67,305,998 (GRCm38)	E1819G	possibly damaging	Het
Myo7a	A	T	7: 98,098,256 (GRCm38)	I129N	probably damaging	Het
Nckap1	A	T	2: 80,554,249 (GRCm38)	C114S	probably benign	Het
Nphp4	T	G	4: 152,538,055 (GRCm38)	L599R	probably benign	Het
Nrcam	A	G	12: 44,549,884 (GRCm38)	I301V	probably benign	Het
Olfr1415	A	G	1: 92,491,405 (GRCm38)	S117P	possibly damaging	Het
Os9	C	T	10: 127,097,055 (GRCm38)	R547Q	probably damaging	Het
Oxtr	A	T	6: 112,489,637 (GRCm38)		probably null	Het
Pgm1	A	T	5: 64,112,147 (GRCm38)	I526F	possibly damaging	Het
Plekho2	T	C	9: 65,556,823 (GRCm38)	D248G	possibly damaging	Het
Rab43	A	T	6: 87,792,770 (GRCm38)	Y151*	probably null	Het
Rbm19	A	G	5: 120,126,204 (GRCm38)	E343G	probably benign	Het
Rel	A	T	11: 23,742,439 (GRCm38)	D531E	probably benign	Het
Rfx4	T	A	10: 84,868,427 (GRCm38)	V262E	probably damaging	Het
Ryr3	A	G	2: 112,841,833 (GRCm38)	L1431P	probably damaging	Het
Sema3d	A	C	5: 12,463,216 (GRCm38)	D51A	possibly damaging	Het
Sh2d4a	T	A	8: 68,335,123 (GRCm38)	F294I	probably damaging	Het
Slc3a1	A	G	17: 85,059,743 (GRCm38)	T453A	probably benign	Het
Sod1	A	G	16: 90,225,183 (GRCm38)	D93G	probably benign	Het
Sptan1	A	G	2: 30,016,028 (GRCm38)	N1662S	probably damaging	Het
Stxbp4	A	C	11: 90,621,700 (GRCm38)	M1R	probably null	Het
Tbc1d7	A	T	13: 43,165,336 (GRCm38)	Y108*	probably null	Het
Ticam1	A	T	17: 56,270,226 (GRCm38)	V623D	unknown	Het
Ticam1	A	G	17: 56,271,687 (GRCm38)	L136P	probably damaging	Het
Tjap1	A	C	17: 46,258,529 (GRCm38)	W512G	possibly damaging	Het
Unc80	A	T	1: 66,510,641 (GRCm38)	Q686L	possibly damaging	Het
Wdr45b	A	T	11: 121,330,214 (GRCm38)	F213I	probably damaging	Het
Xdh	A	C	17: 73,923,082 (GRCm38)	W285G	probably benign	Het
Zfp646	C	T	7: 127,883,810 (GRCm38)	Q1500*	probably null	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
R0780:Sdk2	UTSW	11	113,893,508 (GRCm38)	missense	probably benign	0.07
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
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'- ACCTAAGCCACAGGTAAAGAATTGTCG -3'
(R):5'- TGATCGCAGCAAGTTGGACAGG -3'

Sequencing Primer
(F):5'- CGATATTTGACTAGTGACCTTTGAG -3'
(R):5'- AACTCGGCAATGAGCCTG -3'

Posted On

2013-11-07