Mutagenetix > Incidental Mutation

Incidental Mutation 'R1054:Sdk2'

262396

Institutional Source

Beutler Lab

Gene Symbol

Sdk2

Ensembl Gene

ENSMUSG00000041592

Gene Name

sidekick cell adhesion molecule 2

Synonyms

5330435L01Rik, 4632412F08Rik

MMRRC Submission

039144-MU

Accession Numbers

Essential gene?

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

Stock #

R1054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113776374-114067046 bp(-) (GRCm38)

Type of Mutation

synonymous

DNA Base Change (assembly)

C to T at 113838646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038972 (fasta)

Gene Model

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

AlphaFold

Q6V4S5

Predicted Effect

silent
Transcript: ENSMUST00000041627

SMART Domains

Protein: ENSMUSP00000038972
Gene: ENSMUSG00000041592

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

silent
Transcript: ENSMUST00000041627

SMART Domains

Protein: ENSMUSP00000038972
Gene: ENSMUSG00000041592

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: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,751,559 (GRCm38)	T159A	probably benign	Het
Arhgef38	T	C	3: 133,116,465 (GRCm38)	Y763C	probably damaging	Het
Arv1	T	A	8: 124,731,872 (GRCm38)	F245Y	probably benign	Het
Ccdc175	A	G	12: 72,178,544 (GRCm38)	I113T	possibly damaging	Het
Cdc42bpb	A	T	12: 111,313,353 (GRCm38)	M932K	probably benign	Het
Cdh15	T	C	8: 122,864,337 (GRCm38)	F442L	possibly damaging	Het
Col28a1	C	T	6: 8,175,534 (GRCm38)	D105N	probably damaging	Het
Cpne4	A	G	9: 105,022,401 (GRCm38)	T428A	probably benign	Het
Cramp1	T	A	17: 24,983,177 (GRCm38)	I444F	probably damaging	Het
Dhx32	T	A	7: 133,725,272 (GRCm38)	K360M	probably damaging	Het
Dna2	T	A	10: 62,963,823 (GRCm38)	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 142,082,067 (GRCm38)		probably benign	Het
Eif3f	G	A	7: 108,937,817 (GRCm38)		probably null	Het
Elmod1	T	C	9: 53,912,774 (GRCm38)	D310G	probably benign	Het
Fn1	A	G	1: 71,586,214 (GRCm38)	*2272Q	probably null	Het
Gnat1	A	G	9: 107,677,439 (GRCm38)	S76P	probably damaging	Het
Gtf2f2	T	C	14: 75,995,445 (GRCm38)	T94A	probably benign	Het
Hacd4	A	T	4: 88,423,027 (GRCm38)	W152R	probably damaging	Het
Kcnh8	A	G	17: 52,803,484 (GRCm38)	Y241C	probably damaging	Het
Lepr	T	C	4: 101,782,596 (GRCm38)	I753T	probably damaging	Het
Med12l	C	T	3: 59,248,651 (GRCm38)	H1162Y	probably damaging	Het
Med25	C	T	7: 44,880,380 (GRCm38)	A485T	probably benign	Het
Mup5	A	T	4: 61,832,634 (GRCm38)	S145R	probably benign	Het
Myo1g	A	G	11: 6,518,987 (GRCm38)	V105A	probably damaging	Het
Npc2	A	G	12: 84,760,718 (GRCm38)		probably null	Het
Or52h1	A	G	7: 104,180,291 (GRCm38)	I39T	probably benign	Het
Or6p1	A	G	1: 174,430,853 (GRCm38)	T142A	probably benign	Het
Otulinl	T	C	15: 27,664,549 (GRCm38)	R79G	probably damaging	Het
Pdzd2	A	G	15: 12,371,639 (GRCm38)	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,809 (GRCm38)	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536 (GRCm38)	V199A	possibly damaging	Het
Pramel18	A	G	4: 101,909,164 (GRCm38)	E15G	probably benign	Het
Ptprm	A	T	17: 67,042,318 (GRCm38)	N43K	probably damaging	Het
Qrsl1	C	T	10: 43,882,081 (GRCm38)	D339N	probably damaging	Het
Rpl13-ps3	C	A	14: 58,893,945 (GRCm38)		noncoding transcript	Het
Sdr16c6	A	G	4: 4,069,908 (GRCm38)	V144A	probably damaging	Het
Spata31d1b	C	A	13: 59,717,518 (GRCm38)	H827N	probably damaging	Het
Spata31e4	T	C	13: 50,702,396 (GRCm38)	V690A	probably benign	Het
Taf4b	T	A	18: 14,821,473 (GRCm38)	H535Q	probably benign	Het
Timmdc1	A	G	16: 38,522,428 (GRCm38)	V36A	probably benign	Het
Tmem74b	C	T	2: 151,706,419 (GRCm38)	A22V	probably benign	Het
Txnrd3	T	A	6: 89,650,561 (GRCm38)	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,395,454 (GRCm38)	S133R	probably damaging	Het
Vwf	G	A	6: 125,590,227 (GRCm38)	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,896,315 (GRCm38)	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,904,599 (GRCm38)	S407T	probably benign	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
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
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

Posted On

2015-02-04