Mutagenetix > Incidental Mutation

Incidental Mutation 'R5953:Sdk2'

471017

Institutional Source

Beutler Lab

Gene Symbol

Sdk2

Ensembl Gene

ENSMUSG00000041592

Gene Name

sidekick cell adhesion molecule 2

Synonyms

4632412F08Rik, 5330435L01Rik

MMRRC Submission

043245-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5953 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113667200-113957855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113684570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1964 (Y1964H)

Ref Sequence

ENSEMBL: ENSMUSP00000038972 (fasta)

Gene Model

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

AlphaFold

Q6V4S5

Predicted Effect

probably damaging
Transcript: ENSMUST00000041627
AA Change: Y1964H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038972
Gene: ENSMUSG00000041592
AA Change: Y1964H

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

noncoding transcript
Transcript: ENSMUST00000156955

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 119,960,241 (GRCm39)	S675T	probably damaging	Het
Acvr2a	T	C	2: 48,780,416 (GRCm39)	L212P	probably damaging	Het
Adamts14	T	C	10: 61,043,225 (GRCm39)	T751A	probably damaging	Het
Adgrf2	T	C	17: 43,021,229 (GRCm39)	N532D	probably damaging	Het
Asns	T	C	6: 7,682,285 (GRCm39)	E220G	probably benign	Het
Cd209d	A	T	8: 3,927,979 (GRCm39)		probably null	Het
Cenpp	T	C	13: 49,806,161 (GRCm39)	D2G	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Clec4a3	G	T	6: 122,946,451 (GRCm39)	V232L	probably benign	Het
Cntln	C	T	4: 84,968,156 (GRCm39)	H792Y	possibly damaging	Het
Cobl	T	A	11: 12,206,220 (GRCm39)	T470S	probably benign	Het
Cym	T	A	3: 107,120,783 (GRCm39)	D274V	probably damaging	Het
Elac2	G	A	11: 64,890,049 (GRCm39)	C627Y	probably benign	Het
Emc7	T	A	2: 112,289,903 (GRCm39)	I111N	probably damaging	Het
Eya4	T	A	10: 23,027,871 (GRCm39)	Y310F	probably damaging	Het
Fam217b	C	T	2: 178,062,153 (GRCm39)	S39F	probably damaging	Het
Fam234b	G	T	6: 135,202,705 (GRCm39)	R353L	possibly damaging	Het
Focad	A	G	4: 88,147,572 (GRCm39)	I404V	probably benign	Het
Il1rl1	T	A	1: 40,481,833 (GRCm39)	D180E	probably benign	Het
Il2rb	A	T	15: 78,369,182 (GRCm39)	C256*	probably null	Het
Intu	A	C	3: 40,633,980 (GRCm39)	L404F	probably damaging	Het
Jmy	G	A	13: 93,635,624 (GRCm39)	T64M	possibly damaging	Het
Mpl	C	A	4: 118,311,707 (GRCm39)	S302I	possibly damaging	Het
Mpl	T	A	4: 118,311,708 (GRCm39)	S302C	probably damaging	Het
Muc2	G	T	7: 141,287,951 (GRCm39)	D241Y	probably damaging	Het
Nlrp3	C	T	11: 59,437,617 (GRCm39)	H99Y	probably benign	Het
Or5b118	A	T	19: 13,448,732 (GRCm39)	I133F	possibly damaging	Het
Or6c216	C	G	10: 129,678,483 (GRCm39)	V143L	probably benign	Het
Pglyrp1	A	T	7: 18,624,238 (GRCm39)	I174F	probably damaging	Het
Pi4ka	A	T	16: 17,099,815 (GRCm39)	I1936N		Het
Plekhm3	C	T	1: 64,977,054 (GRCm39)	E139K	probably damaging	Het
Pomk	C	A	8: 26,473,076 (GRCm39)	L292F	probably damaging	Het
Ptpru	A	G	4: 131,504,148 (GRCm39)	I1103T	probably damaging	Het
Pygl	T	C	12: 70,266,401 (GRCm39)	D38G	probably damaging	Het
Rapsn	T	C	2: 90,872,308 (GRCm39)	V214A	probably benign	Het
S100a9	T	A	3: 90,600,234 (GRCm39)	K54M	probably damaging	Het
Slc17a5	T	C	9: 78,464,780 (GRCm39)	N331S	probably damaging	Het
Snx9	T	A	17: 5,958,677 (GRCm39)	C252S	probably damaging	Het
Snx9	G	T	17: 5,958,678 (GRCm39)	C252F	probably damaging	Het
Trem1	A	T	17: 48,544,220 (GRCm39)	M82L	probably benign	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
R5863:Sdk2	UTSW	11	113,725,810 (GRCm39)	missense	probably damaging	0.98
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
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'- GTATCAAGACCCAGATTAGAGCC -3'
(R):5'- TAATGCCCATGAGCAGGTGG -3'

Sequencing Primer
(F):5'- CCAGATTAGAGCCCAGGGTTGTG -3'
(R):5'- GGACCCCAGATGGACCAAG -3'

Posted On

2017-03-31