Mutagenetix > Incidental Mutation

Incidental Mutation 'R3009:Sppl2c'

257463

Institutional Source

Beutler Lab

Gene Symbol

Sppl2c

Ensembl Gene

ENSMUSG00000049506

Gene Name

signal peptide peptidase 2C

Synonyms

4933407P14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R3009 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104077153-104081989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104078141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 314 (P314S)

Ref Sequence

ENSEMBL: ENSMUSP00000102613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059448] [ENSMUST00000107000]

AlphaFold

A2A6C4

Predicted Effect

probably benign
Transcript: ENSMUST00000059448
AA Change: P314S

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091453
Gene: ENSMUSG00000049506
AA Change: P314S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:PA	62	169	1.8e-8	PFAM
transmembrane domain	191	213	N/A	INTRINSIC
low complexity region	220	237	N/A	INTRINSIC
PSN	256	528	1.08e-95	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107000
AA Change: P314S

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102613
Gene: ENSMUSG00000049506
AA Change: P314S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:PA	62	169	2.3e-8	PFAM
transmembrane domain	191	213	N/A	INTRINSIC
low complexity region	220	237	N/A	INTRINSIC
PSN	256	528	1.08e-95	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	G	10: 4,307,891 (GRCm39)	D1567G	probably benign	Het
Bmp3	T	C	5: 99,027,696 (GRCm39)	S439P	probably damaging	Het
Btnl2	C	T	17: 34,582,492 (GRCm39)	R353C	probably damaging	Het
Galc	T	C	12: 98,170,228 (GRCm39)	D676G	probably damaging	Het
Gpd2	C	T	2: 57,228,987 (GRCm39)	R264*	probably null	Het
Gprc6a	T	C	10: 51,504,392 (GRCm39)	T151A	probably benign	Het
Limk2	A	G	11: 3,309,046 (GRCm39)	I104T	probably benign	Het
Mei1	A	G	15: 81,996,726 (GRCm39)	H585R	probably damaging	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Mtfr1	A	T	3: 19,269,750 (GRCm39)	T133S	probably benign	Het
Or12k8	T	C	2: 36,975,089 (GRCm39)	I224V	probably benign	Het
Or5h22	A	G	16: 58,895,350 (GRCm39)	V31A	probably benign	Het
Or6b13	T	C	7: 139,782,669 (GRCm39)	R5G	probably benign	Het
Or8k35	T	C	2: 86,424,714 (GRCm39)	T153A	probably benign	Het
Prkg1	G	A	19: 31,641,512 (GRCm39)	T57I	possibly damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Urb1	A	G	16: 90,571,686 (GRCm39)	I1041T	probably benign	Het
Vmn2r72	A	T	7: 85,398,850 (GRCm39)	M501K	probably benign	Het
Vmn2r91	G	A	17: 18,325,717 (GRCm39)	V112I	probably benign	Het

Other mutations in Sppl2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Sppl2c	APN	11	104,077,805 (GRCm39)	missense	possibly damaging	0.83
IGL02326:Sppl2c	APN	11	104,078,099 (GRCm39)	missense	probably benign	0.27
IGL02479:Sppl2c	APN	11	104,077,763 (GRCm39)	missense	probably benign
H8786:Sppl2c	UTSW	11	104,077,691 (GRCm39)	missense	probably benign	0.04
R0083:Sppl2c	UTSW	11	104,077,358 (GRCm39)	missense	probably benign	0.00
R1625:Sppl2c	UTSW	11	104,077,995 (GRCm39)	missense	probably damaging	0.98
R1913:Sppl2c	UTSW	11	104,078,715 (GRCm39)	missense	probably benign	0.15
R2037:Sppl2c	UTSW	11	104,077,307 (GRCm39)	missense	probably benign	0.23
R2869:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R2869:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R2871:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R2871:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R2873:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R3010:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R3011:Sppl2c	UTSW	11	104,078,141 (GRCm39)	missense	probably benign	0.21
R4698:Sppl2c	UTSW	11	104,079,141 (GRCm39)	missense	probably benign	0.21
R4718:Sppl2c	UTSW	11	104,079,141 (GRCm39)	missense	probably benign	0.21
R4841:Sppl2c	UTSW	11	104,078,478 (GRCm39)	missense	probably benign	0.06
R4842:Sppl2c	UTSW	11	104,078,478 (GRCm39)	missense	probably benign	0.06
R5248:Sppl2c	UTSW	11	104,077,407 (GRCm39)	missense	possibly damaging	0.88
R5288:Sppl2c	UTSW	11	104,078,127 (GRCm39)	missense	possibly damaging	0.68
R5300:Sppl2c	UTSW	11	104,077,901 (GRCm39)	missense	possibly damaging	0.52
R5384:Sppl2c	UTSW	11	104,078,127 (GRCm39)	missense	possibly damaging	0.68
R5386:Sppl2c	UTSW	11	104,078,127 (GRCm39)	missense	possibly damaging	0.68
R5427:Sppl2c	UTSW	11	104,078,693 (GRCm39)	missense	probably benign	0.01
R5452:Sppl2c	UTSW	11	104,078,126 (GRCm39)	missense	probably benign
R5796:Sppl2c	UTSW	11	104,078,619 (GRCm39)	missense	probably benign	0.00
R6112:Sppl2c	UTSW	11	104,077,963 (GRCm39)	missense	probably benign	0.00
R6452:Sppl2c	UTSW	11	104,079,017 (GRCm39)	missense	probably benign	0.01
R6476:Sppl2c	UTSW	11	104,077,595 (GRCm39)	missense	probably benign
R7368:Sppl2c	UTSW	11	104,078,430 (GRCm39)	missense	probably damaging	0.99
R7871:Sppl2c	UTSW	11	104,079,342 (GRCm39)	splice site	probably null
R7896:Sppl2c	UTSW	11	104,077,956 (GRCm39)	missense	possibly damaging	0.94
R7991:Sppl2c	UTSW	11	104,078,640 (GRCm39)	missense	possibly damaging	0.94
R7991:Sppl2c	UTSW	11	104,078,189 (GRCm39)	missense	probably benign	0.00
R8035:Sppl2c	UTSW	11	104,078,192 (GRCm39)	missense	probably benign	0.01
R8221:Sppl2c	UTSW	11	104,077,710 (GRCm39)	missense	probably damaging	0.99
R8243:Sppl2c	UTSW	11	104,078,687 (GRCm39)	missense	probably damaging	1.00
R8462:Sppl2c	UTSW	11	104,077,532 (GRCm39)	missense	possibly damaging	0.47
R8474:Sppl2c	UTSW	11	104,078,963 (GRCm39)	missense	probably benign	0.00
R9368:Sppl2c	UTSW	11	104,078,561 (GRCm39)	missense	probably damaging	1.00
R9507:Sppl2c	UTSW	11	104,078,153 (GRCm39)	missense	probably benign	0.00
R9672:Sppl2c	UTSW	11	104,077,344 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACGACTTTGAAGATGCACCTATG -3'
(R):5'- CAGTTCTTGAACGTGGGCAG -3'

Sequencing Primer
(F):5'- TATGGATTTCACACCAGCCATG -3'
(R):5'- TGAACGTGGGCAGCCGTAC -3'

Posted On

2015-01-11