Mutagenetix > Incidental Mutations

Incidental Mutation 'R2870:Spcs2'

253577

Institutional Source

Beutler Lab

Gene Symbol

Spcs2

Ensembl Gene

ENSMUSG00000035227

Gene Name

signal peptidase complex subunit 2 homolog (S. cerevisiae)

Synonyms

MMRRC Submission

040458-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.850) question?

Stock #

R2870 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99837569-99863462 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99839761 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 240 (D240G)

Ref Sequence

ENSEMBL: ENSMUSP00000146406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036274] [ENSMUST00000207063] [ENSMUST00000207137] [ENSMUST00000207406] [ENSMUST00000207580] [ENSMUST00000208465] [ENSMUST00000208477] [ENSMUST00000209032]

Predicted Effect

probably damaging
Transcript: ENSMUST00000036274
AA Change: D206G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041152
Gene: ENSMUSG00000035227
AA Change: D206G

Domain	Start	End	E-Value	Type
low complexity region	2	34	N/A	INTRINSIC
Pfam:SPC25	55	217	2.4e-48	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207063
AA Change: D170G

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207137
AA Change: D103G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207406

Predicted Effect

probably damaging
Transcript: ENSMUST00000207580
AA Change: D103G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000208465

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208477
AA Change: D232G

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208939

Predicted Effect

probably damaging
Transcript: ENSMUST00000209032
AA Change: D240G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 94.1%
20x: 79.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444G20Rik	A	T	10: 22,067,379	I234N	probably benign	Het
Actrt3	A	G	3: 30,599,698	V51A	probably damaging	Het
Adgb	C	T	10: 10,431,281		probably null	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Als2	A	G	1: 59,211,137	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,615,682	R306H	probably damaging	Het
Arhgef10	T	C	8: 14,975,093		probably null	Het
Arhgef10	A	G	8: 14,975,666	I459V	probably benign	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp12a	A	G	14: 56,386,950	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Cacna2d1	G	A	5: 16,312,568	C404Y	probably damaging	Het
Ccdc59	A	T	10: 105,841,527	K9M	possibly damaging	Het
Cd6	A	G	19: 10,794,626	I307T	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Csmd3	C	T	15: 47,857,924	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,214,774	S217L	probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Dmp1	A	G	5: 104,212,108	S217G	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eral1	A	G	11: 78,076,278	I164T	possibly damaging	Het
Esr1	G	A	10: 4,997,890	R481H	probably damaging	Het
Fam19a2	A	T	10: 123,704,365	H42L	possibly damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Gbp11	C	T	5: 105,331,000	D191N	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614	N334I	probably damaging	Het
Grm5	T	C	7: 87,602,722	V60A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ino80d	C	T	1: 63,061,039		probably null	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Krt31	T	G	11: 100,047,873	N298T	possibly damaging	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mdm1	A	G	10: 118,150,942	T267A	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mmp1b	A	T	9: 7,386,875		silent	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Mylk2	A	G	2: 152,919,348	K457R	probably damaging	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Odf3l2	G	A	10: 79,645,653	T14I	probably benign	Het
Olfr1080	T	C	2: 86,553,584	D180G	possibly damaging	Het
Olfr1510	T	G	14: 52,410,861	T4P	probably benign	Het
Olfr801	A	T	10: 129,669,759	C253*	probably null	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Otud4	T	A	8: 79,661,073	N300K	possibly damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Pcdhb20	A	T	18: 37,505,780	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Plcl1	A	T	1: 55,697,150	D550V	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Ppp1r7	T	A	1: 93,357,863		probably null	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Pzp	A	T	6: 128,485,556		probably null	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Retnla	A	G	16: 48,843,612	R90G	probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Slc5a8	A	G	10: 88,904,963	I247V	probably benign	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Stx3	A	T	19: 11,789,574	V91D	probably damaging	Het
Tbc1d8	A	G	1: 39,405,317	F187S	probably damaging	Het
Thbs1	C	G	2: 118,119,378	N611K	probably damaging	Het
Tipin	A	C	9: 64,304,327	S232R	probably benign	Het
Tmem132b	A	G	5: 125,638,268	D347G	probably benign	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Ybx3	G	A	6: 131,370,413	A253V	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	Het

Other mutations in Spcs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01447:Spcs2	APN	7	99839704	missense	probably benign	0.00
IGL02351:Spcs2	APN	7	99849034	missense	probably damaging	1.00
IGL02358:Spcs2	APN	7	99849034	missense	probably damaging	1.00
R2870:Spcs2	UTSW	7	99839761	missense	probably damaging	1.00
R4065:Spcs2	UTSW	7	99844805	missense	possibly damaging	0.75
R4751:Spcs2	UTSW	7	99844769	splice site	probably null
R4932:Spcs2	UTSW	7	99858831	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AAAACTCTATTCATCCAGGGTGG -3'
(R):5'- TGTCTCCAACCCTAAGAGCG -3'

Sequencing Primer
(F):5'- TGGATTAGACAGGGGCATCTTTAAC -3'
(R):5'- TAAGAGCGCCTCAGTTTCCCAG -3'

Posted On

2014-12-04