Mutagenetix > Incidental Mutation

Incidental Mutation 'R9678:Sdk2'

735781

Institutional Source

Beutler Lab

Gene Symbol

Sdk2

Ensembl Gene

ENSMUSG00000041592

Gene Name

sidekick cell adhesion molecule 2

Synonyms

4632412F08Rik, 5330435L01Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9678 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113667200-113957855 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 113685789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1910 (Y1910*)

Ref Sequence

ENSEMBL: ENSMUSP00000038972 (fasta)

Gene Model

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

AlphaFold

Q6V4S5

Predicted Effect

probably null
Transcript: ENSMUST00000041627
AA Change: Y1910*

SMART Domains

Protein: ENSMUSP00000038972
Gene: ENSMUSG00000041592
AA Change: Y1910*

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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	A	G	17: 57,750,997 (GRCm39)	N557S	probably damaging	Het
Atr	C	T	9: 95,792,610 (GRCm39)	A1644V	possibly damaging	Het
C4b	A	G	17: 34,960,763 (GRCm39)		probably null	Het
Cdca2	A	T	14: 67,937,778 (GRCm39)	C292S	unknown	Het
Cdkn1c	T	C	7: 143,014,383 (GRCm39)	D21G	probably benign	Het
Clec12a	C	A	6: 129,330,628 (GRCm39)	T70K	probably benign	Het
Crnkl1	A	T	2: 145,761,875 (GRCm39)	S561T	probably benign	Het
Dock4	TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC	TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC	12: 40,894,379 (GRCm39)		probably benign	Het
Dock4	CGGTGC	CGGTGCGGGTGC	12: 40,894,396 (GRCm39)		probably benign	Het
Dock4	TGCCGG	TGCCGGCGCCGG	12: 40,894,387 (GRCm39)		probably benign	Het
Ehbp1	T	C	11: 22,101,108 (GRCm39)	D274G	possibly damaging	Het
Fsd2	T	C	7: 81,209,449 (GRCm39)	Y131C	probably damaging	Het
Gm10153	C	A	7: 141,743,723 (GRCm39)	C115F	unknown	Het
Gm10376	A	T	14: 42,873,024 (GRCm39)	M1K	probably null	Het
Gm10837	A	T	14: 122,728,438 (GRCm39)	K105*	probably null	Het
H3f3a	A	G	1: 180,637,680 (GRCm39)		probably null	Het
Igkv10-96	T	A	6: 68,609,224 (GRCm39)	M24L	probably benign	Het
Inpp4a	T	C	1: 37,405,952 (GRCm39)	S157P	probably damaging	Het
Meaf6	A	G	4: 124,996,689 (GRCm39)	N133S	possibly damaging	Het
Nphp3	T	C	9: 103,900,686 (GRCm39)	V648A	possibly damaging	Het
Or1i2	C	T	10: 78,447,717 (GRCm39)	G253R	probably damaging	Het
Or5k17	A	G	16: 58,746,640 (GRCm39)	M98T	probably benign	Het
Parm1	A	G	5: 91,742,144 (GRCm39)	T171A	possibly damaging	Het
Pik3r1	G	T	13: 101,839,289 (GRCm39)	R188S	probably damaging	Het
Rbsn	T	C	6: 92,188,619 (GRCm39)	H32R	probably damaging	Het
Slfn8	T	C	11: 82,907,723 (GRCm39)	I273M	probably damaging	Het
Sult1a1	C	T	7: 126,273,536 (GRCm39)	V132I	probably benign	Het
Tagln3	T	A	16: 45,544,605 (GRCm39)	Y22F	probably damaging	Het
Tenm4	A	G	7: 96,386,619 (GRCm39)	E575G	possibly damaging	Het
Trim24	T	C	6: 37,942,449 (GRCm39)	V987A	probably damaging	Het
Trpm7	C	A	2: 126,686,290 (GRCm39)	V313F	probably damaging	Het
Trub1	A	T	19: 57,446,549 (GRCm39)	N93I	probably benign	Het
Ugdh	A	G	5: 65,581,470 (GRCm39)	V60A	possibly damaging	Het
Ugt2b5	A	C	5: 87,273,186 (GRCm39)	D493E	probably damaging	Het
Utrn	G	T	10: 12,615,159 (GRCm39)	D337E	probably benign	Het
Vmn2r14	A	G	5: 109,364,041 (GRCm39)	L625P	probably damaging	Het
Vmn2r89	A	G	14: 51,693,511 (GRCm39)	D287G	probably benign	Het
Xirp2	A	T	2: 67,339,788 (GRCm39)	E676D	possibly damaging	Het
Zbbx	A	G	3: 75,046,841 (GRCm39)	L26P	probably damaging	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
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
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'- AGAAGTTGAGGGACAGTGCATTTC -3'
(R):5'- ATGGGACCCGTTATTCAGGG -3'

Sequencing Primer
(F):5'- GGGACAGTGCATTTCTATGACCAC -3'
(R):5'- TTATTCAGGGGGTTACAGCTAGAACC -3'

Posted On

2022-11-14