Mutagenetix > Incidental Mutation

Incidental Mutation 'R7912:Smc2'

610578

Institutional Source

Beutler Lab

Gene Symbol

Smc2

Ensembl Gene

ENSMUSG00000028312

Gene Name

structural maintenance of chromosomes 2

Synonyms

5730502P04Rik, CAP-E, Fin16, Smc2l1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R7912 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52439243-52488260 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52450854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 224 (M224K)

Ref Sequence

ENSEMBL: ENSMUSP00000099979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102915] [ENSMUST00000117280] [ENSMUST00000142227]

AlphaFold

Q8CG48

PDB Structure

Crystal Structure of the Mouse Condensin Hinge Domain [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000102915
AA Change: M224K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099979
Gene: ENSMUSG00000028312
AA Change: M224K

Domain	Start	End	E-Value	Type
internal_repeat_1	146	174	2.4e-6	PROSPERO
low complexity region	183	207	N/A	INTRINSIC
coiled coil region	238	355	N/A	INTRINSIC
coiled coil region	400	503	N/A	INTRINSIC
SMC_hinge	520	640	3.8e-34	SMART
coiled coil region	676	880	N/A	INTRINSIC
coiled coil region	984	1031	N/A	INTRINSIC
PDB:4I99\|B	1034	1186	3e-15	PDB
SCOP:d1e69a_	1066	1144	2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117280
AA Change: M224K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113940
Gene: ENSMUSG00000028312
AA Change: M224K

Domain	Start	End	E-Value	Type
Pfam:AAA_21	27	131	3.8e-6	PFAM
internal_repeat_1	146	174	2.4e-6	PROSPERO
low complexity region	183	207	N/A	INTRINSIC
coiled coil region	238	355	N/A	INTRINSIC
coiled coil region	400	503	N/A	INTRINSIC
SMC_hinge	520	640	3.8e-34	SMART
coiled coil region	676	880	N/A	INTRINSIC
coiled coil region	984	1031	N/A	INTRINSIC
PDB:4I99\|B	1034	1186	3e-15	PDB
SCOP:d1e69a_	1066	1144	2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142227
AA Change: M224K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000114228
Gene: ENSMUSG00000028312
AA Change: M224K

Domain	Start	End	E-Value	Type
Pfam:SMC_N	2	351	2.3e-36	PFAM
Pfam:AAA_21	27	131	1.7e-8	PFAM
coiled coil region	400	471	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a component of both condensin I and condensin II complexes, and forms a heterodimer with structural maintenance of chromosome 4 (Smc4). This heterodimer is the catalytic subunit for both condensin complexes, and is involved in several processes, including chromosome condensation during mitosis and meiosis, cohesin removal during mitosis and meiosis, and single-strand break (SSB) repair. Reduced expression of this gene results in chromosome segregation defects during mitosis and meiosis, with a more severe defect observed in embryonic stem cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mice die embryonically. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,120,451 (GRCm39)	T403A	probably benign	Het
Aco1	T	C	4: 40,184,983 (GRCm39)	L551S	probably damaging	Het
Acvr1	C	T	2: 58,364,230 (GRCm39)	V200I	probably damaging	Het
Adam26b	T	A	8: 43,973,245 (GRCm39)	T586S	probably benign	Het
Ahctf1	T	C	1: 179,580,656 (GRCm39)	R1849G	probably benign	Het
Alox5	T	A	6: 116,389,497 (GRCm39)	D590V	probably benign	Het
Anapc5	A	G	5: 122,931,498 (GRCm39)		probably null	Het
Anln	T	C	9: 22,269,965 (GRCm39)	E743G	possibly damaging	Het
Anpep	T	C	7: 79,488,174 (GRCm39)	K496R	probably benign	Het
Aox3	T	A	1: 58,181,855 (GRCm39)	S281T	probably benign	Het
Arhgef11	C	A	3: 87,640,529 (GRCm39)	P1258T	probably damaging	Het
Atp2c2	A	T	8: 120,456,917 (GRCm39)	D173V	possibly damaging	Het
Aurka	T	G	2: 172,210,949 (GRCm39)	D22A	probably benign	Het
B3gat1	A	T	9: 26,666,882 (GRCm39)	D51V	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCAC	3: 95,795,483 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCGCTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,466 (GRCm39)		probably benign	Het
BC028528	TTC	TTCGGTGGTCACTGGCTC	3: 95,795,456 (GRCm39)		probably benign	Het
BC028528	GGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	GGTTCTGTGGTCACTTGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	3: 95,795,454 (GRCm39)		probably benign	Het
BC028528	CTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	CTGGTTCTGTGGTCAATGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	3: 95,795,452 (GRCm39)		probably benign	Het
BC028528	CACTG	CACTGATTCTGTGGTGACTG	3: 95,795,450 (GRCm39)		probably benign	Het
Bcas3	G	A	11: 85,261,954 (GRCm39)	G96S	probably damaging	Het
Bltp1	C	T	3: 37,061,218 (GRCm39)	A3309V	probably damaging	Het
C2cd4d	T	A	3: 94,270,860 (GRCm39)	V42D	probably damaging	Het
Ccdc127	T	C	13: 74,505,151 (GRCm39)	L233P	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,578 (GRCm39)	K573E	probably damaging	Het
Cend1	T	C	7: 141,007,544 (GRCm39)	D92G	probably damaging	Het
Crb1	T	C	1: 139,170,909 (GRCm39)	D827G	probably damaging	Het
Cyld	G	T	8: 89,461,525 (GRCm39)	C654F	probably damaging	Het
Fastkd5	C	T	2: 130,458,557 (GRCm39)	G11D	probably damaging	Het
Foxj3	A	T	4: 119,477,252 (GRCm39)	N354I	possibly damaging	Het
Gimap8	G	T	6: 48,627,999 (GRCm39)	C252F	probably benign	Het
Glra1	T	C	11: 55,411,821 (GRCm39)	Y329C	probably damaging	Het
Gm10330	G	A	12: 23,829,980 (GRCm39)	P67L	probably benign	Het
Gpm6a	T	C	8: 55,508,469 (GRCm39)	I226T	possibly damaging	Het
Gstt2	A	G	10: 75,668,418 (GRCm39)	F121S	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,310,311 (GRCm39)	F3302L	probably benign	Het
Hormad2	T	C	11: 4,358,841 (GRCm39)	T189A	probably damaging	Het
Hps5	A	T	7: 46,418,826 (GRCm39)	S815T	probably benign	Het
Hydin	G	T	8: 111,282,239 (GRCm39)	R3113L	possibly damaging	Het
Inava	A	G	1: 136,155,279 (GRCm39)	S109P	probably benign	Het
Inpp5f	T	A	7: 128,294,037 (GRCm39)	C698S	probably benign	Het
Irs1	T	G	1: 82,267,605 (GRCm39)	M204L	probably benign	Het
Itfg1	T	C	8: 86,490,909 (GRCm39)	D340G	probably damaging	Het
Itm2c	T	A	1: 85,833,032 (GRCm39)	I122N	probably damaging	Het
Lamp3	T	A	16: 19,474,247 (GRCm39)	T376S	probably damaging	Het
Lrba	T	A	3: 86,622,872 (GRCm39)	I2418N	probably damaging	Het
Lrcol1	T	A	5: 110,502,715 (GRCm39)	V161D	probably damaging	Het
Lrp2	T	A	2: 69,259,016 (GRCm39)	Q4558L	probably benign	Het
Lrrfip2	A	T	9: 111,034,836 (GRCm39)	Q175L	probably damaging	Het
Mib1	T	G	18: 10,778,187 (GRCm39)	S572R	probably damaging	Het
Mis18bp1	A	T	12: 65,199,532 (GRCm39)	D456E	possibly damaging	Het
Mlh1	T	A	9: 111,090,581 (GRCm39)	T116S	possibly damaging	Het
Mpp4	T	C	1: 59,160,521 (GRCm39)	N594S	probably damaging	Het
Nbas	A	G	12: 13,455,458 (GRCm39)	E1224G	possibly damaging	Het
Neb	T	C	2: 52,110,997 (GRCm39)	D163G	possibly damaging	Het
Nectin4	T	C	1: 171,207,941 (GRCm39)	V111A	possibly damaging	Het
Nfatc2ip	G	A	7: 125,989,617 (GRCm39)	R256*	probably null	Het
Nlgn2	G	A	11: 69,716,760 (GRCm39)	R594C	probably damaging	Het
Nufip1	A	G	14: 76,352,442 (GRCm39)	S198G	possibly damaging	Het
Or2n1	T	C	17: 38,486,158 (GRCm39)	F61S	probably damaging	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Or8b49	T	C	9: 38,506,446 (GRCm39)	F310L	probably benign	Het
Or8s8	C	T	15: 98,354,574 (GRCm39)	H128Y	probably benign	Het
Pcdhga8	G	A	18: 37,859,896 (GRCm39)	M317I	probably benign	Het
Phactr1	A	T	13: 42,863,239 (GRCm39)	I55L	probably benign	Het
Prl3c1	G	A	13: 27,383,367 (GRCm39)	R31Q	probably benign	Het
Prss55	A	T	14: 64,319,180 (GRCm39)	F59Y	possibly damaging	Het
Ptprb	T	C	10: 116,158,392 (GRCm39)	W488R	probably damaging	Het
Qrich2	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	11: 116,346,608 (GRCm39)		probably benign	Het
Ros1	G	T	10: 52,044,791 (GRCm39)	T172K	probably damaging	Het
Rtel1	C	T	2: 180,997,869 (GRCm39)	R1206W	possibly damaging	Het
Slf2	A	T	19: 44,930,682 (GRCm39)	K586N	probably damaging	Het
Spata31d1e	A	T	13: 59,890,329 (GRCm39)	I497K	probably damaging	Het
Spinkl	T	C	18: 44,299,716 (GRCm39)	Y83C	probably damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,689,458 (GRCm39)		probably benign	Het
St13	T	C	15: 81,283,719 (GRCm39)	E26G	possibly damaging	Het
Teddm3	T	A	16: 20,971,699 (GRCm39)	Q290L	probably benign	Het
Tfec	C	A	6: 16,840,467 (GRCm39)		probably null	Het
Trank1	C	A	9: 111,220,596 (GRCm39)	D2444E	probably benign	Het
Ttc17	T	A	2: 94,209,166 (GRCm39)	N96I	probably damaging	Het
Ttn	T	C	2: 76,560,130 (GRCm39)	T29424A	possibly damaging	Het
Tut7	C	A	13: 59,946,819 (GRCm39)	Q1003H	probably damaging	Het
Vmn1r68	G	A	7: 10,261,237 (GRCm39)	T287I	probably benign	Het
Vmn2r52	C	A	7: 9,896,877 (GRCm39)	V532L	probably benign	Het
Vmn2r92	A	T	17: 18,404,970 (GRCm39)	T705S	possibly damaging	Het
Vps13d	T	C	4: 144,899,697 (GRCm39)	D200G		Het
Wdr48	G	A	9: 119,733,405 (GRCm39)	C84Y	probably damaging	Het
Zscan25	T	A	5: 145,227,321 (GRCm39)	H328Q	probably benign	Het

Other mutations in Smc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Smc2	APN	4	52,450,842 (GRCm39)	missense	probably damaging	1.00
IGL02045:Smc2	APN	4	52,462,914 (GRCm39)	missense	probably benign	0.01
IGL03013:Smc2	APN	4	52,442,280 (GRCm39)	missense	probably damaging	1.00
IGL03031:Smc2	APN	4	52,449,638 (GRCm39)	missense	probably benign	0.35
IGL03246:Smc2	APN	4	52,440,301 (GRCm39)	nonsense	probably null
Janitor	UTSW	4	52,478,448 (GRCm39)	missense	probably damaging	1.00
R0539:Smc2	UTSW	4	52,458,558 (GRCm39)	missense	probably benign	0.01
R0782:Smc2	UTSW	4	52,469,799 (GRCm39)	missense	probably benign	0.30
R1908:Smc2	UTSW	4	52,450,863 (GRCm39)	missense	probably damaging	0.97
R2054:Smc2	UTSW	4	52,462,948 (GRCm39)	missense	probably benign	0.00
R2109:Smc2	UTSW	4	52,474,987 (GRCm39)	missense	probably benign	0.00
R2318:Smc2	UTSW	4	52,446,030 (GRCm39)	missense	probably damaging	1.00
R2352:Smc2	UTSW	4	52,460,266 (GRCm39)	missense	probably benign
R3418:Smc2	UTSW	4	52,476,850 (GRCm39)	splice site	probably benign
R4003:Smc2	UTSW	4	52,462,897 (GRCm39)	missense	probably damaging	1.00
R4133:Smc2	UTSW	4	52,450,947 (GRCm39)	missense	probably damaging	0.99
R4299:Smc2	UTSW	4	52,440,238 (GRCm39)	utr 5 prime	probably benign
R4547:Smc2	UTSW	4	52,467,866 (GRCm39)	missense	probably benign	0.09
R4787:Smc2	UTSW	4	52,462,927 (GRCm39)	missense	probably damaging	0.98
R4816:Smc2	UTSW	4	52,451,231 (GRCm39)	missense	probably benign	0.00
R4829:Smc2	UTSW	4	52,449,612 (GRCm39)	missense	probably damaging	0.98
R4861:Smc2	UTSW	4	52,461,090 (GRCm39)	missense	probably benign	0.14
R4861:Smc2	UTSW	4	52,461,090 (GRCm39)	missense	probably benign	0.14
R4951:Smc2	UTSW	4	52,462,926 (GRCm39)	missense	possibly damaging	0.95
R4963:Smc2	UTSW	4	52,450,826 (GRCm39)	missense	probably damaging	1.00
R4996:Smc2	UTSW	4	52,461,042 (GRCm39)	splice site	probably null
R5028:Smc2	UTSW	4	52,458,447 (GRCm39)	missense	probably damaging	0.96
R5103:Smc2	UTSW	4	52,459,033 (GRCm39)	missense	probably damaging	1.00
R5159:Smc2	UTSW	4	52,460,181 (GRCm39)	missense	possibly damaging	0.65
R5387:Smc2	UTSW	4	52,475,096 (GRCm39)	missense	probably benign	0.16
R5697:Smc2	UTSW	4	52,459,045 (GRCm39)	missense	probably benign	0.01
R6006:Smc2	UTSW	4	52,459,024 (GRCm39)	missense	probably benign
R6246:Smc2	UTSW	4	52,460,289 (GRCm39)	missense	probably damaging	1.00
R6321:Smc2	UTSW	4	52,462,814 (GRCm39)	missense	probably benign
R6590:Smc2	UTSW	4	52,449,375 (GRCm39)	missense	probably benign	0.01
R6658:Smc2	UTSW	4	52,451,322 (GRCm39)	missense	probably benign	0.21
R6690:Smc2	UTSW	4	52,449,375 (GRCm39)	missense	probably benign	0.01
R7422:Smc2	UTSW	4	52,440,301 (GRCm39)	missense	probably benign	0.02
R7486:Smc2	UTSW	4	52,462,861 (GRCm39)	missense	possibly damaging	0.54
R7487:Smc2	UTSW	4	52,478,448 (GRCm39)	missense	probably damaging	1.00
R7532:Smc2	UTSW	4	52,451,013 (GRCm39)	missense	probably damaging	1.00
R7556:Smc2	UTSW	4	52,457,379 (GRCm39)	missense	probably benign	0.03
R7953:Smc2	UTSW	4	52,470,911 (GRCm39)	critical splice donor site	probably null
R7979:Smc2	UTSW	4	52,450,857 (GRCm39)	missense	probably damaging	1.00
R8343:Smc2	UTSW	4	52,450,965 (GRCm39)	missense	probably benign
R8344:Smc2	UTSW	4	52,449,376 (GRCm39)	missense	probably benign	0.01
R8495:Smc2	UTSW	4	52,450,992 (GRCm39)	missense	probably benign	0.00
R8880:Smc2	UTSW	4	52,462,856 (GRCm39)	missense	probably benign	0.00
R8988:Smc2	UTSW	4	52,475,100 (GRCm39)	missense	probably benign
R9201:Smc2	UTSW	4	52,446,044 (GRCm39)	missense	probably damaging	1.00
R9263:Smc2	UTSW	4	52,470,848 (GRCm39)	missense	possibly damaging	0.89
R9287:Smc2	UTSW	4	52,449,361 (GRCm39)	missense	probably damaging	1.00
R9534:Smc2	UTSW	4	52,462,870 (GRCm39)	missense	probably damaging	1.00
RF006:Smc2	UTSW	4	52,442,276 (GRCm39)	missense	probably benign	0.03
X0065:Smc2	UTSW	4	52,440,370 (GRCm39)	missense	probably damaging	1.00
Z1176:Smc2	UTSW	4	52,481,682 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTCTTAAAAGCCAGAGTTCTGAG -3'
(R):5'- TCCAGTGAATCCTAAAGTCATGG -3'

Sequencing Primer
(F):5'- GCCAGAGTTCTGAGATTATAGTTTC -3'
(R):5'- CAGTGAATCCTAAAGTCATGGTATAG -3'

Posted On

2019-12-20