Mutagenetix > Incidental Mutation

Incidental Mutation 'R2056:Senp2'

228218

Institutional Source

Beutler Lab

Gene Symbol

Senp2

Ensembl Gene

ENSMUSG00000022855

Gene Name

SUMO/sentrin specific peptidase 2

Synonyms

4930538C18Rik, 2310007L05Rik

MMRRC Submission

040061-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2056 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21828234-21868019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21832949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 79 (T79I)

Ref Sequence

ENSEMBL: ENSMUSP00000156326 (fasta)

Gene Model

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

AlphaFold

Q91ZX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023561
AA Change: T79I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023561
Gene: ENSMUSG00000022855
AA Change: T79I

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

probably benign
Transcript: ENSMUST00000231724

Predicted Effect

silent
Transcript: ENSMUST00000231798

Predicted Effect

probably damaging
Transcript: ENSMUST00000232534
AA Change: T70I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232679
AA Change: T79I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.1209

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,667,525 (GRCm39)	V129A	probably benign	Het
Adh1	A	G	3: 137,992,676 (GRCm39)	D264G	probably damaging	Het
Ahnak2	T	A	12: 112,748,626 (GRCm39)	D407V	probably benign	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Ankmy1	T	C	1: 92,809,553 (GRCm39)	I662V	possibly damaging	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Apc	A	G	18: 34,449,481 (GRCm39)	R2092G	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Atp2b4	G	T	1: 133,654,275 (GRCm39)	Q777K	probably benign	Het
Brap	G	A	5: 121,801,529 (GRCm39)	G95S	probably damaging	Het
Cbfa2t2	G	A	2: 154,377,077 (GRCm39)	A587T	probably damaging	Het
Ccdc180	A	G	4: 45,932,477 (GRCm39)	I1308V	probably benign	Het
Ccser1	T	A	6: 61,399,936 (GRCm39)		probably null	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Cntln	G	A	4: 84,967,911 (GRCm39)	R710K	probably benign	Het
Csn1s1	A	T	5: 87,819,387 (GRCm39)	T15S	possibly damaging	Het
Cul9	T	C	17: 46,854,298 (GRCm39)	T135A	probably benign	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dhx38	G	T	8: 110,289,352 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,336,251 (GRCm39)	I85N	possibly damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dscaml1	A	G	9: 45,661,430 (GRCm39)	D1776G	probably damaging	Het
Erbin	A	G	13: 103,966,824 (GRCm39)	S1209P	probably benign	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Fbxo45	G	T	16: 32,057,346 (GRCm39)	Q183K	possibly damaging	Het
Frmd4b	C	T	6: 97,389,448 (GRCm39)		probably null	Het
Fzd7	A	G	1: 59,523,361 (GRCm39)	S415G	probably benign	Het
Gpd2	T	A	2: 57,229,025 (GRCm39)		probably null	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gstcd	T	C	3: 132,787,814 (GRCm39)	I295V	probably benign	Het
Gucy1a1	A	G	3: 82,016,592 (GRCm39)	L132P	possibly damaging	Het
Il12b	A	C	11: 44,298,727 (GRCm39)	T61P	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Itih3	A	C	14: 30,631,481 (GRCm39)		probably null	Het
Kdm5b	T	A	1: 134,540,952 (GRCm39)	D681E	probably benign	Het
Kif11	A	G	19: 37,390,660 (GRCm39)	N408D	probably benign	Het
Kng2	TATGACCATGACCATGACCATGACCATGACCATGACCAT	TATGACCATGACCATGACCATGACCATGACCAT	16: 22,806,703 (GRCm39)		probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Krt9	G	T	11: 100,082,321 (GRCm39)	N201K	probably damaging	Het
Lmbr1	G	A	5: 29,438,092 (GRCm39)	P304L	probably benign	Het
Lrrfip1	A	G	1: 91,043,539 (GRCm39)	N648S	probably benign	Het
Mab21l3	C	A	3: 101,722,469 (GRCm39)	V386L	possibly damaging	Het
Mamdc4	T	C	2: 25,454,180 (GRCm39)	Q1149R	probably benign	Het
Mast1	A	G	8: 85,646,995 (GRCm39)	F677L	possibly damaging	Het
Mcoln3	A	G	3: 145,833,979 (GRCm39)	D173G	probably benign	Het
Mmrn1	C	T	6: 60,921,789 (GRCm39)	T82I	probably benign	Het
Mtcl2	C	T	2: 156,864,747 (GRCm39)	G1154S	probably benign	Het
Muc5ac	A	G	7: 141,345,772 (GRCm39)	T203A	probably benign	Het
Myo9b	T	C	8: 71,812,334 (GRCm39)	I2035T	possibly damaging	Het
Ndst3	T	C	3: 123,465,534 (GRCm39)	N146S	probably damaging	Het
Neu4	A	G	1: 93,950,172 (GRCm39)	T21A	possibly damaging	Het
Nos1ap	G	A	1: 170,155,215 (GRCm39)	L267F	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or3a4	A	T	11: 73,944,819 (GRCm39)	Y255*	probably null	Het
Or4p8	A	G	2: 88,727,105 (GRCm39)	F279L	probably damaging	Het
Phc1	T	C	6: 122,310,299 (GRCm39)	N136S	probably damaging	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Psd2	A	G	18: 36,139,744 (GRCm39)	D596G	possibly damaging	Het
Psmc3	T	C	2: 90,888,433 (GRCm39)	F315L	probably benign	Het
Rerg	G	A	6: 137,034,878 (GRCm39)	T42I	probably benign	Het
Rif1	T	A	2: 51,983,588 (GRCm39)	M577K	probably damaging	Het
Sap30	T	C	8: 57,940,282 (GRCm39)		probably null	Het
Scn2b	T	C	9: 45,036,815 (GRCm39)	Y108H	probably damaging	Het
Serpinb2	T	C	1: 107,451,543 (GRCm39)	V232A	probably damaging	Het
Sgpp2	T	A	1: 78,393,588 (GRCm39)	L197Q	probably damaging	Het
Slc27a4	T	C	2: 29,700,953 (GRCm39)	W320R	probably damaging	Het
Spmip4	T	C	6: 50,550,725 (GRCm39)	R575G	possibly damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thbs4	T	A	13: 92,927,387 (GRCm39)	D34V	probably benign	Het
Tlcd4	T	G	3: 121,001,070 (GRCm39)	I188L	probably benign	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tmod2	T	C	9: 75,484,524 (GRCm39)	E248G	probably benign	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ttn	T	C	2: 76,615,882 (GRCm39)	D8360G	possibly damaging	Het
Unc80	A	G	1: 66,679,711 (GRCm39)	E2094G	possibly damaging	Het
Vmn2r18	A	T	5: 151,508,160 (GRCm39)	D321E	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
R0410:Senp2	UTSW	16	21,828,444 (GRCm39)	missense	probably damaging	0.99
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
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'- TTGGCTAACACAAGTTCACACA -3'
(R):5'- GGTGCCGCCTCCATAATTAATAAAT -3'

Sequencing Primer
(F):5'- TTCACATGGGCCTGAAGATC -3'
(R):5'- ATCAGTACCCAAGTCCCAG -3'

Posted On

2014-09-17