Mutagenetix > Incidental Mutation

Incidental Mutation 'R1625:Sppl2c'

174988

Institutional Source

Beutler Lab

Gene Symbol

Sppl2c

Ensembl Gene

ENSMUSG00000049506

Gene Name

signal peptide peptidase 2C

Synonyms

4933407P14Rik

MMRRC Submission

039662-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R1625 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104077153-104081989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104077995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 265 (T265K)

Ref Sequence

ENSEMBL: ENSMUSP00000102613 (fasta)

Gene Model

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

AlphaFold

A2A6C4

Predicted Effect

probably damaging
Transcript: ENSMUST00000059448
AA Change: T265K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091453
Gene: ENSMUSG00000049506
AA Change: T265K

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 damaging
Transcript: ENSMUST00000107000
AA Change: T265K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102613
Gene: ENSMUSG00000049506
AA Change: T265K

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,857,947 (GRCm39)	M605L	probably benign	Het
Abcc5	A	T	16: 20,184,567 (GRCm39)	S1031T	probably damaging	Het
Acot7	T	A	4: 152,270,748 (GRCm39)	C31S	probably benign	Het
Acss3	A	T	10: 106,773,263 (GRCm39)		probably null	Het
Adipor1	T	C	1: 134,351,802 (GRCm39)	F83S	possibly damaging	Het
Agrn	G	A	4: 156,257,317 (GRCm39)	S1171L	probably damaging	Het
Aoc1l1	T	A	6: 48,952,105 (GRCm39)	L10Q	probably damaging	Het
Arhgap5	T	A	12: 52,564,159 (GRCm39)	C377S	probably benign	Het
Arid4b	T	A	13: 14,361,699 (GRCm39)	V721D	probably damaging	Het
Aspm	G	A	1: 139,408,777 (GRCm39)	A2555T	probably benign	Het
Atp6v0a1	T	A	11: 100,946,380 (GRCm39)	L791Q	probably damaging	Het
Car11	A	G	7: 45,350,731 (GRCm39)	K76E	probably benign	Het
Casp8ap2	T	A	4: 32,648,068 (GRCm39)	M1925K	probably benign	Het
Cc2d1a	A	T	8: 84,866,001 (GRCm39)	L418Q	probably damaging	Het
Ccl9	G	A	11: 83,466,736 (GRCm39)	R64W	probably damaging	Het
Cfap20dc	A	G	14: 8,431,668 (GRCm38)	Y655H	probably damaging	Het
Cfap43	T	A	19: 47,739,527 (GRCm39)	K1325N	probably damaging	Het
Dars2	G	A	1: 160,881,614 (GRCm39)	P305L	possibly damaging	Het
Ddx11	C	T	17: 66,457,692 (GRCm39)	T859I	probably benign	Het
Dock7	C	T	4: 98,850,433 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,831,839 (GRCm39)	V570A	probably benign	Het
Fermt1	T	A	2: 132,764,751 (GRCm39)	I369F	probably damaging	Het
Fras1	A	G	5: 96,861,849 (GRCm39)	Y2161C	probably damaging	Het
Fras1	C	A	5: 96,857,837 (GRCm39)	P2044T	possibly damaging	Het
Gucy1a1	T	C	3: 82,009,362 (GRCm39)	I549V	probably benign	Het
Hspg2	G	A	4: 137,246,282 (GRCm39)	S1020N	probably benign	Het
Kif21a	A	G	15: 90,826,378 (GRCm39)	S1360P	probably damaging	Het
Lrp3	T	C	7: 34,903,350 (GRCm39)	Y332C	probably damaging	Het
Ltc4s	C	A	11: 50,128,215 (GRCm39)	A32S	possibly damaging	Het
Mgrn1	T	C	16: 4,728,627 (GRCm39)	L84P	probably damaging	Het
Muc2	C	G	7: 141,283,405 (GRCm39)	C672W	probably damaging	Het
Mvp	A	T	7: 126,600,845 (GRCm39)	V52E	probably damaging	Het
Ndrg2	T	C	14: 52,144,420 (GRCm39)	T269A	probably damaging	Het
Notch2	T	A	3: 98,018,891 (GRCm39)	D684E	probably damaging	Het
Nup205	A	G	6: 35,168,878 (GRCm39)	D316G	probably benign	Het
Or12e7	T	A	2: 87,288,016 (GRCm39)	I169K	probably damaging	Het
Or2v2	T	C	11: 49,004,071 (GRCm39)	M161V	probably benign	Het
Or7d11	A	G	9: 19,966,678 (GRCm39)	L27P	probably damaging	Het
Pcsk1	A	T	13: 75,274,971 (GRCm39)	D520V	probably benign	Het
Pik3cg	A	T	12: 32,244,741 (GRCm39)	D904E	probably damaging	Het
Pitpnm2	T	A	5: 124,271,496 (GRCm39)	D359V	probably benign	Het
Ppih	T	C	4: 119,175,779 (GRCm39)	I69V	probably damaging	Het
Rab11fip3	T	C	17: 26,287,865 (GRCm39)	E96G	possibly damaging	Het
Retreg3	C	A	11: 100,992,875 (GRCm39)	M1I	probably null	Het
Rfpl4	C	T	7: 5,118,409 (GRCm39)	V54I	possibly damaging	Het
Rif1	T	C	2: 51,993,652 (GRCm39)	I855T	probably benign	Het
Rrm1	T	A	7: 102,117,554 (GRCm39)	I748N	probably damaging	Het
Sap130	T	A	18: 31,807,517 (GRCm39)	N441K	probably damaging	Het
Sf3b1	T	A	1: 55,058,536 (GRCm39)	I18F	probably damaging	Het
Skor2	A	G	18: 76,946,499 (GRCm39)	N74D	unknown	Het
Slc17a6	C	A	7: 51,311,208 (GRCm39)	F307L	probably benign	Het
Slc25a13	G	A	6: 6,096,675 (GRCm39)	L410F	probably damaging	Het
Slc47a1	A	T	11: 61,262,625 (GRCm39)	V38E	probably damaging	Het
Slc8a1	T	A	17: 81,956,670 (GRCm39)	T123S	probably damaging	Het
Slc9a5	C	A	8: 106,094,755 (GRCm39)	T782K	possibly damaging	Het
Spmip7	C	A	11: 11,438,644 (GRCm39)		probably benign	Het
Srfbp1	A	G	18: 52,621,788 (GRCm39)	K283R	probably benign	Het
Ssr1	C	T	13: 38,173,479 (GRCm39)		probably null	Het
Stard3nl	T	C	13: 19,556,754 (GRCm39)		probably null	Het
Timeless	G	T	10: 128,076,493 (GRCm39)	S134I	probably damaging	Het
Tll1	A	G	8: 64,494,476 (GRCm39)	F760L	probably damaging	Het
Tspear	A	G	10: 77,706,333 (GRCm39)	I368V	probably benign	Het
Txnrd2	G	T	16: 18,257,116 (GRCm39)	W144L	probably damaging	Het
Unc5d	T	C	8: 29,173,234 (GRCm39)	E668G	probably damaging	Het
Urb1	C	T	16: 90,570,936 (GRCm39)		probably null	Het
Uts2r	A	G	11: 121,052,033 (GRCm39)	Y299C	probably damaging	Het
Vmn1r66	G	T	7: 10,008,316 (GRCm39)	T239K	probably benign	Het
Vps39	C	T	2: 120,154,106 (GRCm39)	V630M	probably damaging	Het
Wrn	T	C	8: 33,819,158 (GRCm39)	T22A	probably benign	Het
Zfp7	T	A	15: 76,765,374 (GRCm39)	D22E	probably damaging	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
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
R3009: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'- TCCGAGTAGCCATGTTTGCACC -3'
(R):5'- GCCATGTTACAGAAACCCGTTGTCC -3'

Sequencing Primer
(F):5'- CCTGTTACTGACTATAACATGGCG -3'
(R):5'- AACCCGTTGTCCAGGCAAG -3'

Posted On

2014-04-24