Mutagenetix > Incidental Mutation

Incidental Mutation 'R7287:Senp2'

566122

Institutional Source

Beutler Lab

Gene Symbol

Senp2

Ensembl Gene

ENSMUSG00000022855

Gene Name

SUMO/sentrin specific peptidase 2

Synonyms

4930538C18Rik, 2310007L05Rik

MMRRC Submission

045321-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7287 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21828234-21868019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21837114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 121 (D121G)

Ref Sequence

ENSEMBL: ENSMUSP00000155909 (fasta)

Gene Model

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

AlphaFold

Q91ZX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023561
AA Change: D130G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023561
Gene: ENSMUSG00000022855
AA Change: D130G

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

probably benign
Transcript: ENSMUST00000231724

Predicted Effect

probably benign
Transcript: ENSMUST00000231798

Predicted Effect

probably damaging
Transcript: ENSMUST00000232534
AA Change: D121G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232679

Meta Mutation Damage Score

0.0967

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,604,861 (GRCm39)	D656G	possibly damaging	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abcc8	T	C	7: 45,762,534 (GRCm39)	H1209R	probably damaging	Het
Adam26a	T	C	8: 44,023,380 (GRCm39)	T37A	possibly damaging	Het
Adamts9	C	T	6: 92,866,984 (GRCm39)	R685Q	possibly damaging	Het
Anapc7	T	A	5: 122,571,499 (GRCm39)	N191K	probably benign	Het
Ankrd26	C	T	6: 118,526,598 (GRCm39)		probably null	Het
Ap5z1	T	C	5: 142,459,802 (GRCm39)	L484P	probably damaging	Het
Arhgap32	A	G	9: 32,063,993 (GRCm39)	D77G		Het
Atp10a	T	A	7: 58,477,017 (GRCm39)	D1213E	probably damaging	Het
B3gnt8	T	C	7: 25,328,395 (GRCm39)	L275P	probably damaging	Het
Bltp2	G	A	11: 78,163,709 (GRCm39)	R1059H	possibly damaging	Het
Cab39	A	G	1: 85,746,182 (GRCm39)	E21G	probably benign	Het
Capn15	G	T	17: 26,179,429 (GRCm39)	S948R	probably damaging	Het
Cbarp	T	C	10: 79,973,154 (GRCm39)	T15A	unknown	Het
Ccdc81	C	T	7: 89,542,331 (GRCm39)	A182T	probably damaging	Het
Ccpg1	A	G	9: 72,922,688 (GRCm39)	H766R	probably benign	Het
Cfl1	T	C	19: 5,542,562 (GRCm39)	V14A	probably benign	Het
Chd6	A	G	2: 160,850,312 (GRCm39)	I875T	probably benign	Het
Cidec	T	A	6: 113,405,359 (GRCm39)	E121D	probably benign	Het
Clpx	C	A	9: 65,207,295 (GRCm39)	Y64*	probably null	Het
Cntn1	T	A	15: 92,143,833 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,826 (GRCm39)	L472P	probably damaging	Het
Dcdc2c	G	T	12: 28,566,685 (GRCm39)	D159E	probably benign	Het
Emp1	T	C	6: 135,357,167 (GRCm39)	F82L	probably benign	Het
Fem1b	T	C	9: 62,703,404 (GRCm39)	T619A	probably benign	Het
Fgf15	A	T	7: 144,450,531 (GRCm39)	D39V	probably benign	Het
Galnt12	T	G	4: 47,108,525 (GRCm39)	F221V	probably damaging	Het
Herc6	A	G	6: 57,628,965 (GRCm39)		probably null	Het
Hspg2	G	A	4: 137,256,867 (GRCm39)	V1537I	probably benign	Het
Ido2	T	C	8: 25,025,154 (GRCm39)		probably null	Het
Insr	G	A	8: 3,219,717 (GRCm39)	T935I	probably benign	Het
Itgax	G	A	7: 127,747,677 (GRCm39)	C1031Y	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Kmt5b	T	C	19: 3,854,501 (GRCm39)	Y255H	possibly damaging	Het
Lrriq1	A	T	10: 103,051,877 (GRCm39)	Y292N	probably benign	Het
Mrpl37	A	G	4: 106,917,717 (GRCm39)	F318S	probably damaging	Het
Nav2	A	G	7: 49,070,076 (GRCm39)	N311D	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrp9b	T	C	7: 19,762,381 (GRCm39)	C673R	probably damaging	Het
Npnt	A	G	3: 132,612,563 (GRCm39)	V74A	probably benign	Het
Or10ak12	T	A	4: 118,666,939 (GRCm39)	T41S	probably benign	Het
Or1e19	T	A	11: 73,316,669 (GRCm39)	I47F	probably benign	Het
Plce1	A	T	19: 38,690,347 (GRCm39)	Q677L	probably benign	Het
Pmel	C	T	10: 128,551,095 (GRCm39)	Q113*	probably null	Het
Pom121l2	T	A	13: 22,168,502 (GRCm39)	F924L	probably benign	Het
Poteg	G	A	8: 27,943,372 (GRCm39)	R214K	probably null	Het
Pprc1	G	T	19: 46,059,793 (GRCm39)	S1480I	unknown	Het
Secisbp2l	A	G	2: 125,582,289 (GRCm39)	S1056P	probably benign	Het
Selenoo	T	C	15: 88,982,903 (GRCm39)	F477L	probably benign	Het
Slc25a11	T	C	11: 70,536,181 (GRCm39)	D211G	probably benign	Het
Slc44a2	A	G	9: 21,253,752 (GRCm39)	D131G	probably benign	Het
Tcf25	G	A	8: 124,100,711 (GRCm39)	A34T	possibly damaging	Het
Tm9sf3	A	G	19: 41,205,818 (GRCm39)	Y530H	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmem132d	G	T	5: 128,061,415 (GRCm39)	Q396K	probably damaging	Het
Tmem154	A	G	3: 84,597,870 (GRCm39)	T136A	possibly damaging	Het
Tnrc6b	A	G	15: 80,763,742 (GRCm39)	T415A	possibly damaging	Het
Tonsl	T	C	15: 76,517,925 (GRCm39)		probably null	Het
Ttyh1	T	C	7: 4,128,657 (GRCm39)	Y185H	probably benign	Het
Ufl1	T	A	4: 25,254,852 (GRCm39)	T535S	probably benign	Het
Vmn1r15	T	C	6: 57,235,201 (GRCm39)	L23P	possibly damaging	Het
Vmn2r25	T	A	6: 123,829,040 (GRCm39)	H78L	possibly damaging	Het
Vmn2r68	T	C	7: 84,871,460 (GRCm39)	T608A	probably benign	Het
Vwf	A	G	6: 125,614,430 (GRCm39)	I1104V		Het
Zbtb2	C	T	10: 4,318,986 (GRCm39)	D347N	possibly damaging	Het
Zfyve9	A	T	4: 108,575,453 (GRCm39)	S543T	probably benign	Het
Zhx1	T	C	15: 57,916,692 (GRCm39)	N518S	probably damaging	Het
Zmym6	T	C	4: 127,016,775 (GRCm39)	V852A	possibly 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
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
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'- TACTGTACCCCAGAGCTACC -3'
(R):5'- ACTCGTCACATGCTACCAGC -3'

Sequencing Primer
(F):5'- TGTACCCCAGAGCTACCCTATAG -3'
(R):5'- TACCAGCTAGTACCCTCAGATTATG -3'

Posted On

2019-06-26