Mutagenetix > Incidental Mutation

Incidental Mutation 'R2869:Sppl2c'

266457

Institutional Source

Beutler Lab

Gene Symbol

Sppl2c

Ensembl Gene

ENSMUSG00000049506

Gene Name

signal peptide peptidase 2C

Synonyms

4933407P14Rik

MMRRC Submission

040457-MU

Accession Numbers

Essential gene?

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

Stock #

R2869 (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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Ccl27a	C	T	4: 41,769,640 (GRCm39)	R73Q	probably benign	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Ggt6	A	T	11: 72,328,187 (GRCm39)	N229I	probably benign	Het
Gm26902	T	A	19: 34,452,210 (GRCm39)	H106L	probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gsdme	A	T	6: 50,185,157 (GRCm39)	C432*	probably null	Het
Habp2	T	A	19: 56,276,423 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Kcnb1	A	G	2: 166,947,855 (GRCm39)	L331P	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Krt13	A	G	11: 100,008,475 (GRCm39)	S421P	unknown	Het
Lactbl1	G	A	4: 136,354,097 (GRCm39)	C37Y	probably damaging	Het
Lzts2	C	A	19: 45,012,534 (GRCm39)	S321*	probably null	Het
Marchf8	C	T	6: 116,378,106 (GRCm39)		probably benign	Het
Meikin	T	C	11: 54,264,333 (GRCm39)	V103A	possibly damaging	Het
Mki67	G	A	7: 135,309,878 (GRCm39)	P191L	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Nbn	T	A	4: 15,963,810 (GRCm39)	D70E	probably damaging	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nwd2	A	T	5: 63,957,671 (GRCm39)	I334L	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or4k2	T	C	14: 50,423,811 (GRCm39)	T288A	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,466,968 (GRCm39)	T116S	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Serinc2	A	G	4: 130,159,005 (GRCm39)	S29P	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
St7	C	T	6: 17,819,276 (GRCm39)	P60L	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Taf6l	A	G	19: 8,755,992 (GRCm39)		probably benign	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tprg1	T	C	16: 25,231,590 (GRCm39)	W189R	probably damaging	Het
Trim32	A	G	4: 65,532,694 (GRCm39)	D417G	probably damaging	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
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'- ACGACTTTGAAGATGCACCTATG -3'
(R):5'- CAGTTCTTGAACGTGGGCAG -3'

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

Posted On

2015-02-18