Mutagenetix > Incidental Mutation

Incidental Mutation 'R1186:Senp2'

102195

Institutional Source

Beutler Lab

Gene Symbol

Senp2

Ensembl Gene

ENSMUSG00000022855

Gene Name

SUMO/sentrin specific peptidase 2

Synonyms

4930538C18Rik, 2310007L05Rik

MMRRC Submission

039258-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22009484-22049269 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22011504 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 38 (S38P)

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: S38P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023561
Gene: ENSMUSG00000022855
AA Change: S38P

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 damaging
Transcript: ENSMUST00000231724
AA Change: S38P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000231798

Predicted Effect

probably damaging
Transcript: ENSMUST00000232534
AA Change: S29P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232679
AA Change: S38P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.0657

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,621,652	R64Q	probably benign	Het
4932438A13Rik	T	C	3: 36,996,312		probably benign	Het
9530068E07Rik	G	A	11: 52,403,078	V49I	probably benign	Het
A2m	T	C	6: 121,661,534	S902P	probably benign	Het
Aatf	A	T	11: 84,470,549		probably benign	Het
Adamtsl1	A	G	4: 86,388,509	T1395A	probably benign	Het
Alpk2	T	C	18: 65,294,341		probably null	Het
Ank3	G	T	10: 69,867,460	A308S	probably damaging	Het
Arap1	A	G	7: 101,404,269		probably benign	Het
C4b	T	C	17: 34,736,309	D769G	possibly damaging	Het
Cep350	A	G	1: 155,875,376	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,875,994	I2704F	unknown	Het
Crip2	G	A	12: 113,144,959		probably benign	Het
Cyp4f14	T	C	17: 32,916,786	I34V	probably benign	Het
Dcstamp	A	G	15: 39,754,629		probably null	Het
Ddx5	T	C	11: 106,783,979		probably null	Het
Dnah2	A	T	11: 69,515,700	L572Q	probably damaging	Het
Espl1	G	A	15: 102,304,039	A527T	probably benign	Het
Fam83d	A	G	2: 158,785,174	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,530,586	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,533,405		probably benign	Het
Galnt17	G	T	5: 131,111,742	T179K	probably damaging	Het
Gm6768	A	C	12: 119,261,471		noncoding transcript	Het
Gm6899	C	T	11: 26,593,685		probably benign	Het
Helz2	T	A	2: 181,231,128	R2433W	probably damaging	Het
Hivep3	T	C	4: 119,814,723		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,694,583	I195T	probably benign	Het
Isyna1	C	A	8: 70,595,201	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,078,008	F75S	probably benign	Het
Ly96	A	G	1: 16,700,894	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,878,269	T243A	probably damaging	Het
Mcc	A	G	18: 44,759,403	V48A	probably benign	Het
Mcpt2	C	T	14: 56,043,945		probably benign	Het
Med24	T	C	11: 98,717,757		probably benign	Het
Mtbp	G	A	15: 55,564,671	G162S	probably null	Het
Mtfr2	G	A	10: 20,352,852	C48Y	probably benign	Het
Naip2	AGGG	AGG	13: 100,162,037		probably null	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Nup107	A	C	10: 117,777,146	Y292*	probably null	Het
Nwd2	C	T	5: 63,650,024		probably benign	Het
Nxpe4	A	C	9: 48,393,392	N260H	probably benign	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1084	A	T	2: 86,639,463	L82M	probably damaging	Het
Olfr5	T	C	7: 6,480,542	I205V	probably benign	Het
Olfr901	T	C	9: 38,431,101	V273A	possibly damaging	Het
Olfr911-ps1	T	C	9: 38,524,157	S142P	probably damaging	Het
P2rx7	T	C	5: 122,670,451	Y299H	probably damaging	Het
Per3	T	A	4: 151,026,138	E401V	probably damaging	Het
Rbm34	C	A	8: 126,965,447	E182*	probably null	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Slc36a2	A	T	11: 55,164,231		probably null	Het
Spred1	A	T	2: 117,177,697	R361S	possibly damaging	Het
Spry2	A	G	14: 105,892,907	C282R	probably damaging	Het
Srp54b	T	C	12: 55,255,528		probably benign	Het
Taar8c	G	C	10: 24,101,565	Y116*	probably null	Het
Tchh	C	G	3: 93,448,046	R1598G	unknown	Het
Tex15	A	G	8: 33,571,633	M364V	probably benign	Het
Ttbk1	T	C	17: 46,467,131	R662G	probably damaging	Het
Ttc5	G	A	14: 50,767,226	Q374*	probably null	Het
Usp46	C	T	5: 74,002,122	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,835,626	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,893,892	R122*	probably null	Het
Vmn2r6	T	A	3: 64,565,067	M78L	probably benign	Het
Zfp407	A	T	18: 84,209,448	I2012N	probably benign	Het
Zfp980	G	A	4: 145,702,083	G461S	probably benign	Het
Zfyve26	G	A	12: 79,263,949	L161F	probably damaging	Het

Other mutations in Senp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00788:Senp2	APN	16	22018364	missense	probably damaging	1.00
IGL01562:Senp2	APN	16	22009687	missense	probably damaging	1.00
IGL01757:Senp2	APN	16	22009664	missense	probably benign	0.13
IGL02593:Senp2	APN	16	22044271	missense	probably damaging	1.00
IGL02896:Senp2	APN	16	22018368	nonsense	probably null
IGL03219:Senp2	APN	16	22014264	splice site	probably benign
IGL03244:Senp2	APN	16	22040579	missense	probably damaging	0.97
Jessie	UTSW	16	22018364	missense	probably damaging	1.00
wrangler	UTSW	16	22028594	critical splice donor site	probably null
wrestler	UTSW	16	22038622	missense	probably damaging	1.00
PIT1430001:Senp2	UTSW	16	22014114	splice site	probably benign
R0410:Senp2	UTSW	16	22009694	missense	probably damaging	0.99
R0511:Senp2	UTSW	16	22036570	missense	probably benign	0.01
R1689:Senp2	UTSW	16	22026666	missense	probably damaging	0.98
R1723:Senp2	UTSW	16	22028042	missense	probably benign	0.00
R1776:Senp2	UTSW	16	22043060	splice site	probably benign
R2056:Senp2	UTSW	16	22014199	missense	probably damaging	1.00
R2058:Senp2	UTSW	16	22014199	missense	probably damaging	1.00
R2371:Senp2	UTSW	16	22018375	missense	possibly damaging	0.86
R3838:Senp2	UTSW	16	22009735	missense	probably damaging	0.99
R3839:Senp2	UTSW	16	22009735	missense	probably damaging	0.99
R4001:Senp2	UTSW	16	22028568	missense	possibly damaging	0.95
R4190:Senp2	UTSW	16	22046667	missense	probably damaging	1.00
R4191:Senp2	UTSW	16	22046667	missense	probably damaging	1.00
R4193:Senp2	UTSW	16	22046667	missense	probably damaging	1.00
R4231:Senp2	UTSW	16	22011554	critical splice donor site	probably null
R4435:Senp2	UTSW	16	22014241	missense	possibly damaging	0.83
R4847:Senp2	UTSW	16	22038636	missense	possibly damaging	0.90
R5207:Senp2	UTSW	16	22041380	missense	possibly damaging	0.52
R5509:Senp2	UTSW	16	22040522	missense	probably damaging	1.00
R6036:Senp2	UTSW	16	22028558	nonsense	probably null
R6036:Senp2	UTSW	16	22028558	nonsense	probably null
R6475:Senp2	UTSW	16	22023800	missense	probably damaging	1.00
R6517:Senp2	UTSW	16	22026724	missense	possibly damaging	0.95
R6923:Senp2	UTSW	16	22011576	intron	probably benign
R7287:Senp2	UTSW	16	22018364	missense	probably damaging	1.00
R7747:Senp2	UTSW	16	22038622	missense	probably damaging	1.00
R7884:Senp2	UTSW	16	22014231	missense	probably benign	0.39
R8037:Senp2	UTSW	16	22014138	nonsense	probably null
R8393:Senp2	UTSW	16	22032114	missense	probably damaging	0.99
R8805:Senp2	UTSW	16	22028039	missense	probably benign
R9216:Senp2	UTSW	16	22028594	critical splice donor site	probably null
R9426:Senp2	UTSW	16	22009741	missense	probably damaging	0.98
R9479:Senp2	UTSW	16	22023648	missense	probably damaging	0.99
R9592:Senp2	UTSW	16	22026685	missense	possibly damaging	0.54
Z1177:Senp2	UTSW	16	22009705	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- GCCAGTGTCCCAAAACCAAATGATG -3'
(R):5'- GGGTTCACTCAGCCAGATGAATCAG -3'

Sequencing Primer
(F):5'- TTTACGACTACATGGGGCAC -3'
(R):5'- taggaaagacaatggcatagagaaag -3'

Posted On

2014-01-15