Mutagenetix > Incidental Mutation

Incidental Mutation 'R1596:Sapcd2'

175782

Institutional Source

Beutler Lab

Gene Symbol

Sapcd2

Ensembl Gene

ENSMUSG00000026955

Gene Name

suppressor APC domain containing 2

Synonyms

2010317E24Rik, 6030458L21Rik, ang

MMRRC Submission

039633-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.343) question?

Stock #

R1596 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

25262333-25268225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25266422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 403 (I403N)

Ref Sequence

ENSEMBL: ENSMUSP00000028329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028329] [ENSMUST00000100323] [ENSMUST00000114293]

AlphaFold

Q9D818

Predicted Effect

probably damaging
Transcript: ENSMUST00000028329
AA Change: I403N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028329
Gene: ENSMUSG00000026955
AA Change: I403N

Domain	Start	End	E-Value	Type
low complexity region	197	212	N/A	INTRINSIC
low complexity region	236	250	N/A	INTRINSIC
Pfam:Suppressor_APC	257	340	1.6e-34	PFAM
low complexity region	348	362	N/A	INTRINSIC
coiled coil region	374	415	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100323
AA Change: I424N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097898
Gene: ENSMUSG00000026955
AA Change: I424N

Domain	Start	End	E-Value	Type
low complexity region	202	216	N/A	INTRINSIC
Pfam:Suppressor_APC	224	305	2.2e-32	PFAM
low complexity region	385	392	N/A	INTRINSIC
coiled coil region	403	436	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114293
AA Change: I369N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109932
Gene: ENSMUSG00000026955
AA Change: I369N

Domain	Start	End	E-Value	Type
low complexity region	202	216	N/A	INTRINSIC
Pfam:Suppressor_APC	223	306	1.4e-34	PFAM
low complexity region	314	328	N/A	INTRINSIC
coiled coil region	340	381	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155310

Meta Mutation Damage Score

0.2062

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 87.7%

Validation Efficiency

97% (70/72)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display an apparently normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	G	15: 37,426,018 (GRCm39)		probably benign	Het
Abca8a	T	A	11: 109,958,886 (GRCm39)	Y745F	possibly damaging	Het
Abl1	A	G	2: 31,680,350 (GRCm39)	N316S	probably damaging	Het
Ackr2	T	C	9: 121,738,278 (GRCm39)	F218L	probably damaging	Het
Adam6b	T	A	12: 113,454,646 (GRCm39)	Y488N	probably damaging	Het
Arhgap10	A	G	8: 78,177,326 (GRCm39)	I103T	possibly damaging	Het
Atm	A	G	9: 53,364,678 (GRCm39)	V2669A	probably damaging	Het
Atp10b	A	G	11: 43,126,594 (GRCm39)	K1117E	probably damaging	Het
Brinp3	T	C	1: 146,390,520 (GRCm39)	V22A	probably benign	Het
Casp8	G	T	1: 58,870,833 (GRCm39)		probably benign	Het
Ccdc178	T	A	18: 22,153,930 (GRCm39)	K626N	possibly damaging	Het
Clcn6	T	A	4: 148,107,836 (GRCm39)	S193C	probably damaging	Het
Col11a1	C	T	3: 113,946,262 (GRCm39)		probably benign	Het
Csn1s2b	T	A	5: 87,966,917 (GRCm39)		probably benign	Het
Cst5	T	C	2: 149,247,329 (GRCm39)	V15A	unknown	Het
Cttnbp2	A	G	6: 18,408,591 (GRCm39)	F1010S	probably damaging	Het
Dlg2	T	C	7: 92,080,259 (GRCm39)	V614A	probably damaging	Het
Dsg1c	A	G	18: 20,415,104 (GRCm39)	Y667C	probably damaging	Het
Ep400	A	T	5: 110,856,727 (GRCm39)		probably benign	Het
Fam83c	C	T	2: 155,672,982 (GRCm39)		probably null	Het
Fbxw20	C	T	9: 109,050,368 (GRCm39)	C419Y	probably damaging	Het
Fgd2	G	A	17: 29,595,904 (GRCm39)	V521I	probably benign	Het
Frrs1	A	G	3: 116,676,848 (GRCm39)		probably benign	Het
Gli3	C	A	13: 15,900,056 (GRCm39)	Q1148K	possibly damaging	Het
Hdac5	G	T	11: 102,095,482 (GRCm39)		probably null	Het
Ice1	C	T	13: 70,753,014 (GRCm39)	R1024H	possibly damaging	Het
Irak3	A	T	10: 120,018,451 (GRCm39)	I99N	probably damaging	Het
Klhl31	A	G	9: 77,557,356 (GRCm39)	D24G	probably damaging	Het
Lrba	C	T	3: 86,257,611 (GRCm39)	Q1292*	probably null	Het
Map1a	C	T	2: 121,120,246 (GRCm39)	A44V	probably benign	Het
Mbd2	T	A	18: 70,749,703 (GRCm39)	M306K	probably damaging	Het
Mrc1	C	T	2: 14,253,701 (GRCm39)	H241Y	possibly damaging	Het
Mrgprg	A	G	7: 143,318,431 (GRCm39)	F227S	possibly damaging	Het
Ncapg2	T	A	12: 116,382,856 (GRCm39)	L229H	probably damaging	Het
Ncf4	G	A	15: 78,134,637 (GRCm39)	E30K	probably damaging	Het
Nlrp4c	C	A	7: 6,069,777 (GRCm39)	D559E	probably benign	Het
Nxpe4	T	A	9: 48,307,855 (GRCm39)	W320R	probably damaging	Het
Or10a3n	T	A	7: 108,493,086 (GRCm39)	H176L	probably damaging	Het
Or52n4b	T	A	7: 108,144,290 (GRCm39)	M184K	possibly damaging	Het
Or6z5	T	C	7: 6,477,514 (GRCm39)	L135P	probably damaging	Het
Pdzrn3	A	G	6: 101,127,966 (GRCm39)	V900A	probably benign	Het
Prcp	T	C	7: 92,567,042 (GRCm39)		probably benign	Het
Prkaa2	A	T	4: 104,893,526 (GRCm39)	D474E	probably damaging	Het
Prl3a1	A	G	13: 27,443,600 (GRCm39)		probably benign	Het
Ptpra	T	A	2: 130,386,872 (GRCm39)	Y624N	probably damaging	Het
Ramp1	T	C	1: 91,151,022 (GRCm39)	V129A	possibly damaging	Het
Reep1	G	T	6: 71,733,421 (GRCm39)		probably null	Het
Robo3	C	T	9: 37,335,928 (GRCm39)		probably null	Het
Sdk2	T	A	11: 113,729,435 (GRCm39)		probably benign	Het
Serpinb3a	T	C	1: 106,974,904 (GRCm39)	M210V	probably benign	Het
Slc45a3	T	A	1: 131,909,267 (GRCm39)	I488N	probably damaging	Het
Tnrc6c	C	T	11: 117,648,867 (GRCm39)	P1513S	probably damaging	Het
Trank1	T	A	9: 111,195,358 (GRCm39)	H1127Q	possibly damaging	Het
Trim67	T	C	8: 125,552,878 (GRCm39)	V660A	probably damaging	Het
Ubash3b	A	G	9: 40,942,793 (GRCm39)	I233T	probably benign	Het
Unkl	A	G	17: 25,424,707 (GRCm39)	R245G	probably null	Het

Other mutations in Sapcd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01337:Sapcd2	APN	2	25,266,491 (GRCm39)	makesense	probably null
R3815:Sapcd2	UTSW	2	25,263,518 (GRCm39)	intron	probably benign
R4826:Sapcd2	UTSW	2	25,262,768 (GRCm39)	missense	probably benign	0.09
R4926:Sapcd2	UTSW	2	25,263,578 (GRCm39)	splice site	probably null
R6442:Sapcd2	UTSW	2	25,266,134 (GRCm39)	intron	probably benign
R6794:Sapcd2	UTSW	2	25,266,379 (GRCm39)	missense	probably damaging	1.00
R7090:Sapcd2	UTSW	2	25,266,091 (GRCm39)	missense	probably benign	0.00
R7659:Sapcd2	UTSW	2	25,265,978 (GRCm39)	critical splice acceptor site	probably null
R7744:Sapcd2	UTSW	2	25,263,508 (GRCm39)	missense	unknown
R9697:Sapcd2	UTSW	2	25,262,925 (GRCm39)	nonsense	probably null
R9728:Sapcd2	UTSW	2	25,262,669 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCATGCTGAAAGAACAGAACCG -3'
(R):5'- GCAGAGTACATTTCTAGCAGCACCC -3'

Sequencing Primer
(F):5'- GAACCGGCTTCTCACTCAG -3'
(R):5'- ATTTCTAGCAGCACCCAAGTCTG -3'

Posted On

2014-04-24