Mutagenetix > Incidental Mutation

Incidental Mutation 'R0410:Senp2'

36618

Institutional Source

Beutler Lab

Gene Symbol

Senp2

Ensembl Gene

ENSMUSG00000022855

Gene Name

SUMO/sentrin specific peptidase 2

Synonyms

4930538C18Rik, 2310007L05Rik

MMRRC Submission

038612-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0410 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

21828234-21868019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 21828444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 18 (R18L)

Ref Sequence

ENSEMBL: ENSMUSP00000023561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023561] [ENSMUST00000231632] [ENSMUST00000231724] [ENSMUST00000232534] [ENSMUST00000232679]

AlphaFold

Q91ZX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023561
AA Change: R18L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023561
Gene: ENSMUSG00000022855
AA Change: R18L

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
low complexity region	101	118	N/A	INTRINSIC
low complexity region	325	340	N/A	INTRINSIC
Pfam:Peptidase_C48	408	587	1.5e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231408

Predicted Effect

probably benign
Transcript: ENSMUST00000231632

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231724
AA Change: R18L

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

unknown
Transcript: ENSMUST00000231798
AA Change: R14L

Predicted Effect

probably benign
Transcript: ENSMUST00000232534

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232679
AA Change: R18L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjugatable form and catalyze the deconjugation of SUMO1-containing species.[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygous null mice are embryonic lethal due to placental defects resulting from abnormal trophoblast maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,268 (GRCm39)	D170G	probably benign	Het
Actrt3	C	T	3: 30,652,273 (GRCm39)	G274S	probably benign	Het
Adamts18	G	T	8: 114,440,990 (GRCm39)	C889*	probably null	Het
Alkbh6	C	T	7: 30,012,031 (GRCm39)	P104S	probably damaging	Het
Alms1	A	T	6: 85,564,785 (GRCm39)	E53V	unknown	Het
Ap3s1	T	C	18: 46,912,279 (GRCm39)	C100R	probably benign	Het
Apbb2	G	T	5: 66,609,149 (GRCm39)	A166E	possibly damaging	Het
Asph	A	G	4: 9,595,415 (GRCm39)	V174A	probably damaging	Het
Cacna2d2	T	C	9: 107,401,819 (GRCm39)	L758P	probably damaging	Het
Cacng5	A	G	11: 107,768,195 (GRCm39)	S271P	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Chn1	A	T	2: 73,462,094 (GRCm39)	C236*	probably null	Het
Coro1b	T	C	19: 4,199,362 (GRCm39)	V7A	probably damaging	Het
Dhx16	A	G	17: 36,201,859 (GRCm39)	Y962C	probably damaging	Het
Dixdc1	T	C	9: 50,596,153 (GRCm39)	D152G	probably damaging	Het
Dmrt1	T	C	19: 25,483,467 (GRCm39)	S84P	probably damaging	Het
Dnah10	A	G	5: 124,832,799 (GRCm39)	D844G	probably benign	Het
Edn3	C	T	2: 174,603,482 (GRCm39)	P77S	possibly damaging	Het
Efcab7	T	C	4: 99,735,487 (GRCm39)		probably null	Het
Fam83g	A	G	11: 61,594,218 (GRCm39)	D584G	probably damaging	Het
Fbxo7	T	A	10: 85,865,102 (GRCm39)		probably null	Het
Ffar1	T	C	7: 30,560,055 (GRCm39)	T281A	probably benign	Het
Fntb	T	C	12: 76,934,826 (GRCm39)	V201A	probably benign	Het
Gart	C	A	16: 91,438,215 (GRCm39)	A101S	probably damaging	Het
Gbp9	T	C	5: 105,232,939 (GRCm39)	T238A	probably benign	Het
Hectd4	T	C	5: 121,424,329 (GRCm39)	L663S	possibly damaging	Het
Helz2	A	T	2: 180,872,386 (GRCm39)	V2512E	probably damaging	Het
Hip1	A	C	5: 135,487,009 (GRCm39)	L66R	probably damaging	Het
Iigp1	T	A	18: 60,523,375 (GRCm39)	D164E	probably benign	Het
Kcnip3	A	G	2: 127,301,986 (GRCm39)	S193P	probably damaging	Het
Klra9	T	A	6: 130,165,707 (GRCm39)	T103S	probably benign	Het
Meis2	T	C	2: 115,694,709 (GRCm39)	*471W	probably null	Het
Minar1	T	G	9: 89,484,256 (GRCm39)	E380D	probably damaging	Het
Mrpl21	T	C	19: 3,334,792 (GRCm39)	S45P	possibly damaging	Het
Mterf1b	A	G	5: 4,246,488 (GRCm39)	E43G	probably benign	Het
Mycbp2	G	T	14: 103,372,569 (GRCm39)	S4092R	probably damaging	Het
Nfatc3	A	T	8: 106,822,828 (GRCm39)	N538I	probably damaging	Het
Nphp4	T	C	4: 152,641,503 (GRCm39)	C1095R	probably benign	Het
Npm2	T	A	14: 70,889,993 (GRCm39)	T13S	probably benign	Het
Or1m1	C	A	9: 18,666,137 (GRCm39)	V265F	probably damaging	Het
Or7e176	T	A	9: 20,171,797 (GRCm39)	F220L	probably benign	Het
Plcg2	A	T	8: 118,342,112 (GRCm39)	I1158F	probably damaging	Het
Popdc3	T	C	10: 45,193,829 (GRCm39)	V210A	possibly damaging	Het
Postn	T	C	3: 54,292,698 (GRCm39)	L755S	possibly damaging	Het
Prdx6b	T	C	2: 80,123,373 (GRCm39)	F61L	probably damaging	Het
Rars1	C	T	11: 35,716,847 (GRCm39)	R223H	probably damaging	Het
Robo1	G	A	16: 72,768,872 (GRCm39)	G479D	possibly damaging	Het
Scaf4	A	G	16: 90,057,058 (GRCm39)	Y98H	unknown	Het
Scn4a	A	G	11: 106,214,775 (GRCm39)	I1274T	probably damaging	Het
Six5	T	A	7: 18,830,381 (GRCm39)	V336D	probably damaging	Het
Slc31a2	G	A	4: 62,210,890 (GRCm39)	E8K	probably benign	Het
Slc4a7	A	T	14: 14,738,299 (GRCm38)	T184S	probably damaging	Het
Slco2a1	T	A	9: 102,950,513 (GRCm39)		probably null	Het
Smr3a	T	G	5: 88,156,070 (GRCm39)		probably benign	Het
Sqor	T	C	2: 122,629,442 (GRCm39)	V100A	probably benign	Het
Srarp	T	C	4: 141,160,459 (GRCm39)	N125D	possibly damaging	Het
Stam	T	C	2: 14,143,802 (GRCm39)	V364A	probably benign	Het
Tgm5	T	C	2: 120,908,039 (GRCm39)	I46V	possibly damaging	Het
Tie1	A	T	4: 118,337,766 (GRCm39)	V443E	probably damaging	Het
Tipin	T	C	9: 64,195,397 (GRCm39)	M1T	probably null	Het
Tnc	T	C	4: 63,925,931 (GRCm39)	T950A	probably benign	Het
Tns3	T	C	11: 8,385,852 (GRCm39)	D1382G	probably benign	Het
Tor1aip1	A	G	1: 155,911,686 (GRCm39)	V99A	possibly damaging	Het
Trim16	C	T	11: 62,711,297 (GRCm39)		probably benign	Het
Ttn	G	T	2: 76,618,701 (GRCm39)	N14448K	possibly damaging	Het
Ttn	C	T	2: 76,717,204 (GRCm39)		probably benign	Het
Tut4	A	G	4: 108,343,752 (GRCm39)	R255G	probably benign	Het
Vmn1r23	A	G	6: 57,903,175 (GRCm39)	I201T	probably benign	Het
Vmn2r13	T	A	5: 109,321,679 (GRCm39)	K339N	probably benign	Het
Yap1	A	G	9: 8,001,468 (GRCm39)	Y173H	probably damaging	Het

Other mutations in Senp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00788:Senp2	APN	16	21,837,114 (GRCm39)	missense	probably damaging	1.00
IGL01562:Senp2	APN	16	21,828,437 (GRCm39)	missense	probably damaging	1.00
IGL01757:Senp2	APN	16	21,828,414 (GRCm39)	missense	probably benign	0.13
IGL02593:Senp2	APN	16	21,863,021 (GRCm39)	missense	probably damaging	1.00
IGL02896:Senp2	APN	16	21,837,118 (GRCm39)	nonsense	probably null
IGL03219:Senp2	APN	16	21,833,014 (GRCm39)	splice site	probably benign
IGL03244:Senp2	APN	16	21,859,329 (GRCm39)	missense	probably damaging	0.97
Jessie	UTSW	16	21,837,114 (GRCm39)	missense	probably damaging	1.00
wrangler	UTSW	16	21,847,344 (GRCm39)	critical splice donor site	probably null
wrestler	UTSW	16	21,857,372 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Senp2	UTSW	16	21,832,864 (GRCm39)	splice site	probably benign
R0511:Senp2	UTSW	16	21,855,320 (GRCm39)	missense	probably benign	0.01
R1186:Senp2	UTSW	16	21,830,254 (GRCm39)	missense	probably damaging	0.99
R1689:Senp2	UTSW	16	21,845,416 (GRCm39)	missense	probably damaging	0.98
R1723:Senp2	UTSW	16	21,846,792 (GRCm39)	missense	probably benign	0.00
R1776:Senp2	UTSW	16	21,861,810 (GRCm39)	splice site	probably benign
R2056:Senp2	UTSW	16	21,832,949 (GRCm39)	missense	probably damaging	1.00
R2058:Senp2	UTSW	16	21,832,949 (GRCm39)	missense	probably damaging	1.00
R2371:Senp2	UTSW	16	21,837,125 (GRCm39)	missense	possibly damaging	0.86
R3838:Senp2	UTSW	16	21,828,485 (GRCm39)	missense	probably damaging	0.99
R3839:Senp2	UTSW	16	21,828,485 (GRCm39)	missense	probably damaging	0.99
R4001:Senp2	UTSW	16	21,847,318 (GRCm39)	missense	possibly damaging	0.95
R4190:Senp2	UTSW	16	21,865,417 (GRCm39)	missense	probably damaging	1.00
R4191:Senp2	UTSW	16	21,865,417 (GRCm39)	missense	probably damaging	1.00
R4193:Senp2	UTSW	16	21,865,417 (GRCm39)	missense	probably damaging	1.00
R4231:Senp2	UTSW	16	21,830,304 (GRCm39)	critical splice donor site	probably null
R4435:Senp2	UTSW	16	21,832,991 (GRCm39)	missense	possibly damaging	0.83
R4847:Senp2	UTSW	16	21,857,386 (GRCm39)	missense	possibly damaging	0.90
R5207:Senp2	UTSW	16	21,860,130 (GRCm39)	missense	possibly damaging	0.52
R5509:Senp2	UTSW	16	21,859,272 (GRCm39)	missense	probably damaging	1.00
R6036:Senp2	UTSW	16	21,847,308 (GRCm39)	nonsense	probably null
R6036:Senp2	UTSW	16	21,847,308 (GRCm39)	nonsense	probably null
R6475:Senp2	UTSW	16	21,842,550 (GRCm39)	missense	probably damaging	1.00
R6517:Senp2	UTSW	16	21,845,474 (GRCm39)	missense	possibly damaging	0.95
R6923:Senp2	UTSW	16	21,830,326 (GRCm39)	intron	probably benign
R7287:Senp2	UTSW	16	21,837,114 (GRCm39)	missense	probably damaging	1.00
R7747:Senp2	UTSW	16	21,857,372 (GRCm39)	missense	probably damaging	1.00
R7884:Senp2	UTSW	16	21,832,981 (GRCm39)	missense	probably benign	0.39
R8037:Senp2	UTSW	16	21,832,888 (GRCm39)	nonsense	probably null
R8393:Senp2	UTSW	16	21,850,864 (GRCm39)	missense	probably damaging	0.99
R8805:Senp2	UTSW	16	21,846,789 (GRCm39)	missense	probably benign
R9216:Senp2	UTSW	16	21,847,344 (GRCm39)	critical splice donor site	probably null
R9426:Senp2	UTSW	16	21,828,491 (GRCm39)	missense	probably damaging	0.98
R9479:Senp2	UTSW	16	21,842,398 (GRCm39)	missense	probably damaging	0.99
R9592:Senp2	UTSW	16	21,845,435 (GRCm39)	missense	possibly damaging	0.54
Z1177:Senp2	UTSW	16	21,828,455 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TGACTGGCTCTGCCAAAGAGAAAG -3'
(R):5'- AACTCCTAACCTAGTGACTCGCTCC -3'

Sequencing Primer
(F):5'- TGGCTACGGCTGAAgcg -3'
(R):5'- GCGACAGGAGCCGTATC -3'

Posted On

2013-05-09