Mutagenetix > Incidental Mutation

Incidental Mutation 'R9697:Sapcd2'

729344

Institutional Source

Beutler Lab

Gene Symbol

Sapcd2

Ensembl Gene

ENSMUSG00000026955

Gene Name

suppressor APC domain containing 2

Synonyms

2010317E24Rik, 6030458L21Rik, ang

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.357) question?

Stock #

R9697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25262333-25268225 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 25262925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 161 (C161*)

Ref Sequence

ENSEMBL: ENSMUSP00000028329 (fasta)

Gene Model

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

AlphaFold

Q9D818

Predicted Effect

probably null
Transcript: ENSMUST00000028329
AA Change: C161*

SMART Domains

Protein: ENSMUSP00000028329
Gene: ENSMUSG00000026955
AA Change: C161*

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 null
Transcript: ENSMUST00000100323
AA Change: C161*

SMART Domains

Protein: ENSMUSP00000097898
Gene: ENSMUSG00000026955
AA Change: C161*

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 null
Transcript: ENSMUST00000114293
AA Change: C161*

SMART Domains

Protein: ENSMUSP00000109932
Gene: ENSMUSG00000026955
AA Change: C161*

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 15,163,769 (GRCm39)		probably benign	Het
9330182O14Rik	C	T	15: 40,005,500 (GRCm39)		probably benign	Het
Adamts19	C	A	18: 59,101,834 (GRCm39)	P635T	probably damaging	Het
Adgrf1	T	C	17: 43,625,362 (GRCm39)	W857R	possibly damaging	Het
Ak9	T	G	10: 41,298,968 (GRCm39)	Y1556*	probably null	Het
Ang2	T	C	14: 51,433,326 (GRCm39)	I19V	probably benign	Het
Ano3	T	A	2: 110,496,253 (GRCm39)	T834S	probably damaging	Het
As3mt	A	T	19: 46,708,420 (GRCm39)	I236F	probably benign	Het
Asns	A	T	6: 7,689,268 (GRCm39)	I78N	probably damaging	Het
Bet1	G	A	6: 4,082,471 (GRCm39)	T44M	probably damaging	Het
Cabyr	T	C	18: 12,884,407 (GRCm39)	V298A	possibly damaging	Het
Cacna1c	A	G	6: 118,589,598 (GRCm39)	V1601A		Het
Ccni	A	T	5: 93,350,201 (GRCm39)	M26K	probably damaging	Het
Cdhr2	T	C	13: 54,867,679 (GRCm39)	I503T	probably damaging	Het
Cfap54	T	C	10: 92,792,851 (GRCm39)	K1754R	unknown	Het
Cfap69	A	G	5: 5,676,041 (GRCm39)	V218A	possibly damaging	Het
Clcn3	A	G	8: 61,372,518 (GRCm39)	L741P	probably damaging	Het
Cntnap1	T	C	11: 101,068,828 (GRCm39)	F124L	possibly damaging	Het
Col20a1	G	A	2: 180,641,577 (GRCm39)	G673D	probably benign	Het
Col4a2	A	G	8: 11,487,628 (GRCm39)	I977V	probably benign	Het
Cyp3a59	A	T	5: 146,031,190 (GRCm39)	I118F	probably damaging	Het
Dgcr8	A	T	16: 18,098,283 (GRCm39)	D369E	probably benign	Het
Dhtkd1	T	C	2: 5,919,651 (GRCm39)	T577A	probably benign	Het
Dock2	A	T	11: 34,204,417 (GRCm39)	M1375K	probably benign	Het
Fa2h	G	A	8: 112,074,659 (GRCm39)	H315Y	probably damaging	Het
Foxd2	G	A	4: 114,765,684 (GRCm39)	P112L	unknown	Het
Gin1	A	G	1: 97,712,897 (GRCm39)	I317V	probably benign	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
H2-T3	T	A	17: 36,500,744 (GRCm39)	Y33F	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Il12rb1	G	A	8: 71,263,874 (GRCm39)	W145*	probably null	Het
Il6ra	A	G	3: 89,785,219 (GRCm39)	V330A	probably benign	Het
Impdh2	T	C	9: 108,438,847 (GRCm39)	S67P	possibly damaging	Het
Ltbp3	T	A	19: 5,792,521 (GRCm39)	S85T	probably benign	Het
Magi3	A	G	3: 103,956,458 (GRCm39)		probably null	Het
Mettl4	T	A	17: 95,034,806 (GRCm39)	I430F	probably damaging	Het
Mmd	T	A	11: 90,167,579 (GRCm39)	F203I	probably damaging	Het
Nlgn1	T	C	3: 25,494,035 (GRCm39)	T305A	possibly damaging	Het
Ntn1	A	G	11: 68,168,356 (GRCm39)	V367A	probably damaging	Het
Or2w1b	A	T	13: 21,299,892 (GRCm39)	H10L	probably benign	Het
Or5b107	G	A	19: 13,142,888 (GRCm39)	C170Y	possibly damaging	Het
Pcdh12	T	C	18: 38,415,022 (GRCm39)	H701R	possibly damaging	Het
Pcgf3	G	A	5: 108,621,773 (GRCm39)		probably null	Het
Pik3c2g	G	A	6: 139,913,517 (GRCm39)	V972M	unknown	Het
Pink1	A	G	4: 138,041,323 (GRCm39)	C563R	possibly damaging	Het
Prol1	A	T	5: 88,466,426 (GRCm39)	N3I	probably benign	Het
Ptpro	T	G	6: 137,363,288 (GRCm39)	I474S	probably damaging	Het
Rabgef1	A	G	5: 130,241,781 (GRCm39)	E395G	probably benign	Het
Rpgrip1l	G	T	8: 91,987,391 (GRCm39)	H889N	possibly damaging	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,452,391 (GRCm39)		probably benign	Het
Spen	A	G	4: 141,196,275 (GRCm39)	L3625P	probably damaging	Het
Stil	T	C	4: 114,878,701 (GRCm39)	I379T	probably benign	Het
Stim1	A	G	7: 102,078,014 (GRCm39)	D172G		Het
Timm50	A	G	7: 28,010,350 (GRCm39)	L68P	probably damaging	Het
Tlr9	C	T	9: 106,100,723 (GRCm39)	R5*	probably null	Het
Top1mt	A	T	15: 75,547,874 (GRCm39)	Y71N	probably damaging	Het
Trpv4	A	G	5: 114,771,285 (GRCm39)	Y415H	possibly damaging	Het
Try10	C	T	6: 41,331,041 (GRCm39)		probably benign	Het
Uhrf2	A	G	19: 30,063,780 (GRCm39)	E581G	probably damaging	Het
Usp17lb	G	A	7: 104,490,495 (GRCm39)	T144I	possibly damaging	Het
Vmn1r64	T	C	7: 5,886,859 (GRCm39)	N228S	probably benign	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	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
R1596:Sapcd2	UTSW	2	25,266,422 (GRCm39)	missense	probably damaging	1.00
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
R9728:Sapcd2	UTSW	2	25,262,669 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGACCTTCGAGCGTTTC -3'
(R):5'- TTCCTTAAGAGGCTGCTCAC -3'

Sequencing Primer
(F):5'- ACCTCGCTGCTGAAAGC -3'
(R):5'- GCTGCTCACAGTCGTCC -3'

Posted On

2022-10-06