Mutagenetix > Incidental Mutation

Incidental Mutation 'R3712:Sun2'

259687

Institutional Source

Beutler Lab

Gene Symbol

Sun2

Ensembl Gene

ENSMUSG00000042524

Gene Name

Sad1 and UNC84 domain containing 2

Synonyms

B230369L08Rik, Unc84b

MMRRC Submission

040705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3712 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79608271-79626737 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79612114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 522 (S522P)

Ref Sequence

ENSEMBL: ENSMUSP00000098006 (fasta)

Gene Model

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

AlphaFold

Q8BJS4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046259
AA Change: S524P

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047864
Gene: ENSMUSG00000042524
AA Change: S524P

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

possibly damaging
Transcript: ENSMUST00000089311
AA Change: S492P

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000086724
Gene: ENSMUSG00000042524
AA Change: S492P

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

possibly damaging
Transcript: ENSMUST00000100439
AA Change: S522P

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000098006
Gene: ENSMUSG00000042524
AA Change: S522P

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

noncoding transcript
Transcript: ENSMUST00000159762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231189

Meta Mutation Damage Score

0.3149

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	C	A	16: 88,424,411 (GRCm39)	V27F	unknown	Het
Akr1c20	T	C	13: 4,560,222 (GRCm39)	E152G	probably damaging	Het
Alx4	G	A	2: 93,473,134 (GRCm39)	G44D	possibly damaging	Het
Arhgap31	T	A	16: 38,422,895 (GRCm39)	E1057V	possibly damaging	Het
Arhgef26	A	T	3: 62,331,050 (GRCm39)	D588V	probably damaging	Het
Bag2	T	A	1: 33,785,997 (GRCm39)	E108D	probably benign	Het
Ccdc162	C	T	10: 41,463,375 (GRCm39)	V183I	probably benign	Het
Ccdc83	A	G	7: 89,885,563 (GRCm39)		probably benign	Het
Ccnyl1	G	A	1: 64,753,827 (GRCm39)	E137K	probably damaging	Het
Celsr2	T	C	3: 108,308,155 (GRCm39)	T1849A	probably benign	Het
Cep192	C	A	18: 67,953,400 (GRCm39)	D472E	probably benign	Het
Cep57l1	A	G	10: 41,619,110 (GRCm39)	Y86H	probably damaging	Het
Cep95	G	T	11: 106,702,112 (GRCm39)	E370*	probably null	Het
Cldn10	A	G	14: 119,092,522 (GRCm39)	T41A	probably damaging	Het
Clptm1l	T	A	13: 73,764,157 (GRCm39)	Y426N	probably benign	Het
Dipk1b	T	C	2: 26,522,650 (GRCm39)	L33S	possibly damaging	Het
Eps15	T	C	4: 109,166,374 (GRCm39)	V89A	probably damaging	Het
Fam53b	A	G	7: 132,361,654 (GRCm39)	S125P	probably damaging	Het
Fbxo44	A	T	4: 148,240,461 (GRCm39)	W256R	probably benign	Het
Gnl2	T	C	4: 124,940,067 (GRCm39)	V313A	probably damaging	Het
Hyal4	A	G	6: 24,756,513 (GRCm39)	R244G	probably damaging	Het
Irf6	G	T	1: 192,844,931 (GRCm39)	W134L	probably benign	Het
Kcnu1	A	G	8: 26,371,448 (GRCm39)	T286A	probably damaging	Het
Lpcat2	T	C	8: 93,644,798 (GRCm39)	V529A	possibly damaging	Het
Lrfn2	A	G	17: 49,378,188 (GRCm39)	E423G	possibly damaging	Het
Lrp8	G	T	4: 107,705,499 (GRCm39)	R209L	probably benign	Het
Mgll	T	C	6: 88,741,570 (GRCm39)		probably benign	Het
Mix23	T	C	16: 35,901,775 (GRCm39)		probably null	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or3a1d	A	T	11: 74,238,023 (GRCm39)	I129N	probably damaging	Het
Or5p66	A	T	7: 107,885,663 (GRCm39)	Y223*	probably null	Het
Or6c206	A	T	10: 129,097,093 (GRCm39)	K88*	probably null	Het
Orc1	T	C	4: 108,461,218 (GRCm39)	V526A	probably damaging	Het
Pard3b	T	C	1: 62,383,137 (GRCm39)	S744P	probably damaging	Het
Pcnx3	G	A	19: 5,733,367 (GRCm39)	Q155*	probably null	Het
Pcnx3	C	G	19: 5,733,368 (GRCm39)	L1F	probably null	Het
Pdcd11	T	A	19: 47,115,684 (GRCm39)		probably benign	Het
Pi4k2a	G	A	19: 42,079,131 (GRCm39)	R64Q	probably damaging	Het
Pigt	A	G	2: 164,343,565 (GRCm39)	D347G	probably benign	Het
Rbm27	T	C	18: 42,425,177 (GRCm39)		probably benign	Het
Rpl7a-ps10	A	G	9: 97,061,926 (GRCm39)	E232G	probably damaging	Het
Rprd2	A	G	3: 95,671,872 (GRCm39)	L1177P	probably damaging	Het
Rrn3	T	A	16: 13,601,959 (GRCm39)	L71*	probably null	Het
Sbspon	A	G	1: 15,962,669 (GRCm39)	C70R	probably damaging	Het
Smtn	A	T	11: 3,482,865 (GRCm39)		probably null	Het
Son	A	G	16: 91,453,614 (GRCm39)	D787G	probably damaging	Het
Sphkap	C	T	1: 83,254,833 (GRCm39)	S972N	probably benign	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Srp14	A	C	2: 118,309,440 (GRCm39)	L58V	probably null	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Trdn	T	C	10: 33,033,162 (GRCm39)	I129T	probably benign	Het
Trpv3	A	G	11: 73,169,780 (GRCm39)	K117R	probably benign	Het
Ubqlnl	A	T	7: 103,798,345 (GRCm39)	I384N	probably benign	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Vmn1r59	A	T	7: 5,457,637 (GRCm39)	I41K	probably damaging	Het
Vmn2r125	T	A	4: 156,702,419 (GRCm39)	Y68*	probably null	Het
Zpld1	A	T	16: 55,046,799 (GRCm39)	L390*	probably null	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
R3937:Sun2	UTSW	15	79,618,356 (GRCm39)	missense	probably benign	0.14
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'- AGCAGGCTTTGTTCATTCCAC -3'
(R):5'- ACACTGCCTTTGTCTGTAGGTG -3'

Sequencing Primer
(F):5'- TGTTCATTCCACCACCCACAC -3'
(R):5'- CTGTAGGTGGAATCCCAGTTCC -3'

Posted On

2015-01-23