Mutagenetix > Incidental Mutation

Incidental Mutation 'R3937:Sun2'

307249

Institutional Source

Beutler Lab

Gene Symbol

Sun2

Ensembl Gene

ENSMUSG00000042524

Gene Name

Sad1 and UNC84 domain containing 2

Synonyms

B230369L08Rik, Unc84b

MMRRC Submission

040921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3937 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79608271-79626737 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79618356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 268 (K268E)

Ref Sequence

ENSEMBL: ENSMUSP00000098006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046259] [ENSMUST00000089311] [ENSMUST00000100439] [ENSMUST00000159660]

AlphaFold

Q8BJS4

Predicted Effect

probably benign
Transcript: ENSMUST00000046259
AA Change: K270E

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000047864
Gene: ENSMUSG00000042524
AA Change: K270E

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
low complexity region	63	80	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
transmembrane domain	174	196	N/A	INTRINSIC
transmembrane domain	226	248	N/A	INTRINSIC
low complexity region	327	339	N/A	INTRINSIC
coiled coil region	418	453	N/A	INTRINSIC
coiled coil region	491	519	N/A	INTRINSIC
Pfam:Sad1_UNC	595	729	1.3e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089311
AA Change: K238E

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000086724
Gene: ENSMUSG00000042524
AA Change: K238E

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
low complexity region	63	80	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
transmembrane domain	194	216	N/A	INTRINSIC
low complexity region	295	307	N/A	INTRINSIC
coiled coil region	386	421	N/A	INTRINSIC
coiled coil region	459	487	N/A	INTRINSIC
Pfam:Sad1_UNC	563	697	1.1e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100439
AA Change: K268E

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000098006
Gene: ENSMUSG00000042524
AA Change: K268E

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
low complexity region	63	80	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
transmembrane domain	174	196	N/A	INTRINSIC
transmembrane domain	224	246	N/A	INTRINSIC
low complexity region	325	337	N/A	INTRINSIC
coiled coil region	416	451	N/A	INTRINSIC
coiled coil region	489	517	N/A	INTRINSIC
Pfam:Sad1_UNC	593	727	1.2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159660

SMART Domains

Protein: ENSMUSP00000124504
Gene: ENSMUSG00000042524

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
low complexity region	63	80	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162064

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231189

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit no gross abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	G	4: 148,026,510 (GRCm39)	S343R	possibly damaging	Het
Abca8b	G	T	11: 109,865,393 (GRCm39)	P355T	probably benign	Het
Abhd15	T	C	11: 77,406,764 (GRCm39)	V247A	probably benign	Het
Adamts1	C	T	16: 85,592,507 (GRCm39)	V634M	possibly damaging	Het
BC049715	T	C	6: 136,817,453 (GRCm39)	I231T	possibly damaging	Het
Chpf	A	T	1: 75,454,184 (GRCm39)	V198E	probably damaging	Het
Cp	C	T	3: 20,025,198 (GRCm39)	P386S	probably damaging	Het
Cth	A	G	3: 157,625,677 (GRCm39)	I107T	possibly damaging	Het
Ctrc	T	C	4: 141,567,632 (GRCm39)	D157G	probably damaging	Het
D630003M21Rik	A	G	2: 158,042,280 (GRCm39)	Y889H	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Esyt3	A	T	9: 99,218,245 (GRCm39)	I130K	probably benign	Het
F13a1	A	T	13: 37,100,875 (GRCm39)	V423D	probably damaging	Het
Faf1	T	C	4: 109,614,889 (GRCm39)		probably benign	Het
Fam227b	A	T	2: 125,968,980 (GRCm39)	D31E	probably benign	Het
Fastkd2	A	G	1: 63,776,995 (GRCm39)	D377G	possibly damaging	Het
Fbxl6	G	A	15: 76,420,824 (GRCm39)	R384*	probably null	Het
Fcamr	A	T	1: 130,732,313 (GRCm39)	H44L	probably damaging	Het
Fhod3	A	G	18: 25,223,818 (GRCm39)	N1055D	probably benign	Het
Garem1	A	T	18: 21,281,863 (GRCm39)	Y164*	probably null	Het
Gemin4	C	T	11: 76,103,714 (GRCm39)	C349Y	probably damaging	Het
Gnal	A	G	18: 67,268,441 (GRCm39)		probably null	Het
Hacl1	T	C	14: 31,356,148 (GRCm39)		probably benign	Het
Hectd3	T	C	4: 116,855,727 (GRCm39)	V409A	probably benign	Het
Hps6	A	G	19: 45,992,492 (GRCm39)	E143G	probably damaging	Het
Hspa4	T	A	11: 53,161,776 (GRCm39)	I459L	probably benign	Het
Ighv3-6	G	A	12: 114,252,061 (GRCm39)	Q21*	probably null	Het
Ints3	G	A	3: 90,311,294 (GRCm39)	R438*	probably null	Het
Jmjd6	T	C	11: 116,731,991 (GRCm39)	N237D	probably benign	Het
Lrrk2	C	A	15: 91,662,707 (GRCm39)	T1912K	probably damaging	Het
Mdga2	C	A	12: 67,267,980 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh6	T	C	14: 55,200,512 (GRCm39)	D203G	probably benign	Het
Myo5b	T	C	18: 74,849,108 (GRCm39)	S1116P	probably damaging	Het
Nalcn	T	A	14: 123,607,357 (GRCm39)	D704V	probably benign	Het
Nes	A	T	3: 87,878,543 (GRCm39)	M12L	probably benign	Het
Or10ak7	T	C	4: 118,791,880 (GRCm39)	D53G	probably damaging	Het
Or10al2	A	G	17: 37,983,858 (GRCm39)	T315A	probably benign	Het
Or2f1	T	A	6: 42,721,010 (GRCm39)	I13N	probably damaging	Het
Or5j3	T	A	2: 86,128,360 (GRCm39)	S67T	probably damaging	Het
Pcdha2	T	C	18: 37,074,376 (GRCm39)	V669A	probably benign	Het
Pdhx	T	C	2: 102,852,564 (GRCm39)	N433S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,124 (GRCm39)	R261G	probably damaging	Het
Plekhj1	A	G	10: 80,633,609 (GRCm39)	I76T	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,073 (GRCm39)	S614T	probably damaging	Het
Ptpru	T	C	4: 131,501,615 (GRCm39)	N1207S	probably damaging	Het
Ranbp2	T	C	10: 58,312,294 (GRCm39)	F1005L	probably benign	Het
Rims2	A	G	15: 39,301,241 (GRCm39)	E324G	probably damaging	Het
Sema6d	A	T	2: 124,498,770 (GRCm39)	I227L	probably benign	Het
Smarcad1	T	G	6: 65,091,320 (GRCm39)	L1014V	probably damaging	Het
Spag9	T	G	11: 93,935,305 (GRCm39)	S39A	possibly damaging	Het
Spag9	T	C	11: 93,935,243 (GRCm39)	V18A	possibly damaging	Het
Tbpl2	C	T	2: 23,977,151 (GRCm39)	R289Q	probably benign	Het
Tcea3	T	A	4: 135,982,454 (GRCm39)		probably benign	Het
Tmem185a	C	T	X: 69,505,792 (GRCm39)		probably null	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Vmn1r212	A	T	13: 23,067,358 (GRCm39)	V325E	unknown	Het
Vmn1r35	T	A	6: 66,656,057 (GRCm39)	R204S	probably damaging	Het
Vmn2r57	A	G	7: 41,077,554 (GRCm39)	M204T	probably damaging	Het
Wdfy3	A	T	5: 102,092,105 (GRCm39)	Y411*	probably null	Het
Zfp335	G	T	2: 164,752,620 (GRCm39)	D41E	probably damaging	Het

Other mutations in Sun2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03325:Sun2	APN	15	79,622,849 (GRCm39)	missense	probably benign	0.34
R0049:Sun2	UTSW	15	79,611,810 (GRCm39)	splice site	probably benign
R0049:Sun2	UTSW	15	79,611,810 (GRCm39)	splice site	probably benign
R0189:Sun2	UTSW	15	79,621,277 (GRCm39)	missense	probably damaging	1.00
R0349:Sun2	UTSW	15	79,614,433 (GRCm39)	missense	probably damaging	1.00
R1183:Sun2	UTSW	15	79,612,669 (GRCm39)	missense	probably damaging	1.00
R1751:Sun2	UTSW	15	79,609,758 (GRCm39)	missense	probably benign
R1767:Sun2	UTSW	15	79,609,758 (GRCm39)	missense	probably benign
R1843:Sun2	UTSW	15	79,621,764 (GRCm39)	missense	probably benign
R2005:Sun2	UTSW	15	79,610,825 (GRCm39)	missense	possibly damaging	0.80
R2062:Sun2	UTSW	15	79,622,852 (GRCm39)	missense	probably damaging	1.00
R2358:Sun2	UTSW	15	79,612,114 (GRCm39)	missense	possibly damaging	0.95
R3712:Sun2	UTSW	15	79,612,114 (GRCm39)	missense	possibly damaging	0.95
R3938:Sun2	UTSW	15	79,618,356 (GRCm39)	missense	probably benign	0.14
R4869:Sun2	UTSW	15	79,612,587 (GRCm39)	intron	probably benign
R4871:Sun2	UTSW	15	79,611,765 (GRCm39)	missense	probably damaging	1.00
R5375:Sun2	UTSW	15	79,611,723 (GRCm39)	missense	probably damaging	1.00
R5482:Sun2	UTSW	15	79,621,712 (GRCm39)	missense	probably benign	0.01
R5555:Sun2	UTSW	15	79,618,328 (GRCm39)	missense	probably benign	0.01
R5657:Sun2	UTSW	15	79,612,150 (GRCm39)	nonsense	probably null
R5662:Sun2	UTSW	15	79,623,069 (GRCm39)	missense	probably benign	0.01
R6144:Sun2	UTSW	15	79,614,533 (GRCm39)	missense	probably benign
R6975:Sun2	UTSW	15	79,618,420 (GRCm39)	nonsense	probably null
R7127:Sun2	UTSW	15	79,612,100 (GRCm39)	missense	probably benign	0.00
R7358:Sun2	UTSW	15	79,618,313 (GRCm39)	missense	probably benign	0.29
R7614:Sun2	UTSW	15	79,623,225 (GRCm39)	splice site	probably null
R8181:Sun2	UTSW	15	79,609,721 (GRCm39)	missense	probably damaging	0.99
R8343:Sun2	UTSW	15	79,623,125 (GRCm39)	missense	probably damaging	1.00
R9068:Sun2	UTSW	15	79,612,252 (GRCm39)	missense	probably benign	0.01
R9117:Sun2	UTSW	15	79,614,517 (GRCm39)	missense	probably benign	0.09
R9186:Sun2	UTSW	15	79,611,737 (GRCm39)	missense	probably damaging	1.00
R9365:Sun2	UTSW	15	79,622,720 (GRCm39)	critical splice donor site	probably null
Z1177:Sun2	UTSW	15	79,622,721 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TTAGAGGCAAGTTAGCTCCCC -3'
(R):5'- TAACTGTCTGCGGAATGAGTGG -3'

Sequencing Primer
(F):5'- GCAAGTTAGCTCCCCCATGAC -3'
(R):5'- TGTGAGCATGAAGGAGCTG -3'

Posted On

2015-04-17