Mutagenetix > Incidental Mutation

Incidental Mutation 'R5002:Semp2l2b'

389999

Institutional Source

Beutler Lab

Gene Symbol

Semp2l2b

Ensembl Gene

ENSMUSG00000069712

Gene Name

SUMO/sentrin specific peptidase 2-like 2B

Synonyms

4930444G20Rik

MMRRC Submission

042596-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R5002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21942208-21943978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 21943716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 88 (P88R)

Ref Sequence

ENSEMBL: ENSMUSP00000097613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092672]

AlphaFold

D3Z741

Predicted Effect

probably damaging
Transcript: ENSMUST00000092672
AA Change: P88R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097613
Gene: ENSMUSG00000069712
AA Change: P88R

Domain	Start	End	E-Value	Type
low complexity region	194	205	N/A	INTRINSIC
Pfam:Peptidase_C48	315	494	1.9e-45	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

94% (44/47)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,852,623 (GRCm39)	P736S	probably damaging	Het
Apbb2	A	G	5: 66,470,668 (GRCm39)	I523T	possibly damaging	Het
Casq1	T	A	1: 172,040,945 (GRCm39)	D281V	possibly damaging	Het
Catsperb	T	C	12: 101,486,813 (GRCm39)	F447L	probably benign	Het
Cenpe	A	T	3: 134,952,842 (GRCm39)	M1511L	probably benign	Het
Cep128	T	C	12: 91,222,497 (GRCm39)		probably null	Het
Col6a6	T	C	9: 105,663,292 (GRCm39)	T82A	probably benign	Het
Dna2	A	G	10: 62,786,621 (GRCm39)	D123G	probably damaging	Het
Ergic2	A	G	6: 148,085,656 (GRCm39)	I281T	probably benign	Het
Fcgbp	T	A	7: 27,785,528 (GRCm39)		probably null	Het
Filip1l	T	C	16: 57,391,466 (GRCm39)	Y447H	probably benign	Het
Flnb	T	A	14: 7,945,882 (GRCm38)	M2429K	probably damaging	Het
Fn1	T	A	1: 71,668,887 (GRCm39)	Q686L	possibly damaging	Het
Gm10644	T	C	8: 84,660,216 (GRCm39)	D43G	possibly damaging	Het
Gm10717	A	G	9: 3,025,532 (GRCm39)	Y39C	probably benign	Het
Gpx6	A	G	13: 21,497,858 (GRCm39)	Y43C	probably damaging	Het
Hhat	A	T	1: 192,225,498 (GRCm39)	F494I	probably benign	Het
Itga9	C	A	9: 118,492,966 (GRCm39)	S287*	probably null	Het
Lrrk1	C	A	7: 65,982,111 (GRCm39)	G177W	probably damaging	Het
Ltbp4	GT	G	7: 27,027,110 (GRCm39)		probably null	Het
Ms4a14	T	C	19: 11,281,653 (GRCm39)	I302V	probably benign	Het
Nepn	A	C	10: 52,267,850 (GRCm39)	M39L	probably benign	Het
Nfil3	C	A	13: 53,122,712 (GRCm39)	R64L	probably damaging	Het
Ociad1	T	C	5: 73,467,659 (GRCm39)	V199A	possibly damaging	Het
Or2r3	C	A	6: 42,448,906 (GRCm39)	V69L	probably benign	Het
Or8k3b	C	A	2: 86,520,429 (GRCm39)	V297L	possibly damaging	Het
Polk	A	G	13: 96,625,752 (GRCm39)	Y431H	probably damaging	Het
Prss33	C	T	17: 24,054,332 (GRCm39)		probably benign	Het
Slc12a7	A	G	13: 73,911,896 (GRCm39)	N4S	possibly damaging	Het
Slc29a4	A	T	5: 142,704,501 (GRCm39)	I348F	probably damaging	Het
Smarce1	T	C	11: 99,115,889 (GRCm39)	N44S	probably damaging	Het
Spast	C	T	17: 74,676,221 (GRCm39)	Q344*	probably null	Het
Stk11ip	C	A	1: 75,509,187 (GRCm39)		probably benign	Het
Tas2r131	T	C	6: 132,934,114 (GRCm39)	I232V	probably benign	Het
Tesk1	T	C	4: 43,444,573 (GRCm39)	Y126H	probably damaging	Het
Tmpo	A	G	10: 90,999,976 (GRCm39)	V164A	possibly damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vwc2l	T	G	1: 70,768,205 (GRCm39)	C43G	probably damaging	Het
Wnk1	G	A	6: 119,914,924 (GRCm39)	T1626I	probably benign	Het
Zpld2	T	A	4: 133,924,231 (GRCm39)	N438I	probably benign	Het

Other mutations in Semp2l2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02001:Semp2l2b	APN	10	21,943,176 (GRCm39)	missense	probably benign	0.01
IGL02546:Semp2l2b	APN	10	21,942,826 (GRCm39)	missense	probably damaging	1.00
IGL02885:Semp2l2b	APN	10	21,943,057 (GRCm39)	missense	possibly damaging	0.94
R0543:Semp2l2b	UTSW	10	21,942,823 (GRCm39)	missense	possibly damaging	0.88
R1762:Semp2l2b	UTSW	10	21,943,411 (GRCm39)	missense	probably benign	0.02
R2249:Semp2l2b	UTSW	10	21,943,015 (GRCm39)	missense	possibly damaging	0.77
R2354:Semp2l2b	UTSW	10	21,943,155 (GRCm39)	missense	probably benign	0.19
R2870:Semp2l2b	UTSW	10	21,943,278 (GRCm39)	missense	probably benign
R2870:Semp2l2b	UTSW	10	21,943,278 (GRCm39)	missense	probably benign
R3777:Semp2l2b	UTSW	10	21,942,861 (GRCm39)	missense	probably damaging	1.00
R4117:Semp2l2b	UTSW	10	21,943,615 (GRCm39)	missense	probably benign
R4644:Semp2l2b	UTSW	10	21,942,660 (GRCm39)	missense	probably benign	0.02
R5667:Semp2l2b	UTSW	10	21,942,742 (GRCm39)	missense	possibly damaging	0.91
R5671:Semp2l2b	UTSW	10	21,942,742 (GRCm39)	missense	possibly damaging	0.91
R6694:Semp2l2b	UTSW	10	21,943,620 (GRCm39)	missense	probably damaging	0.99
R6810:Semp2l2b	UTSW	10	21,942,616 (GRCm39)	missense	probably damaging	1.00
R6923:Semp2l2b	UTSW	10	21,943,654 (GRCm39)	missense	probably damaging	1.00
R6942:Semp2l2b	UTSW	10	21,943,160 (GRCm39)	missense	probably benign
R7065:Semp2l2b	UTSW	10	21,943,197 (GRCm39)	missense	probably benign	0.00
R7204:Semp2l2b	UTSW	10	21,943,785 (GRCm39)	missense	probably damaging	1.00
R8778:Semp2l2b	UTSW	10	21,943,356 (GRCm39)	missense	probably damaging	0.99
R9403:Semp2l2b	UTSW	10	21,943,840 (GRCm39)	missense	possibly damaging	0.65
R9416:Semp2l2b	UTSW	10	21,943,752 (GRCm39)	missense	probably benign	0.04
R9508:Semp2l2b	UTSW	10	21,942,816 (GRCm39)	missense	probably damaging	0.99
R9615:Semp2l2b	UTSW	10	21,943,611 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- TGAACTCACATCTTGGTCGC -3'
(R):5'- TGAAGCTTCAGGAATAGGGC -3'

Sequencing Primer
(F):5'- ACATCTTGGTCGCACTGAAG -3'
(R):5'- TACCACGATGAAAGTGTGACAG -3'

Posted On

2016-06-06