Mutagenetix > Incidental Mutation

Incidental Mutation 'R8755:Ncapd2'

664099

Institutional Source

Beutler Lab

Gene Symbol

Ncapd2

Ensembl Gene

ENSMUSG00000038252

Gene Name

non-SMC condensin I complex, subunit D2

Synonyms

2810406C15Rik, 2810465G24Rik, CNAP1, CAP-D2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R8755 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125168007-125191701 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125171854 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 990 (C990S)

Ref Sequence

ENSEMBL: ENSMUSP00000042260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043848]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043848
AA Change: C990S

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: C990S

Domain	Start	End	E-Value	Type
Pfam:Cnd1_N	75	240	1.4e-41	PFAM
low complexity region	461	472	N/A	INTRINSIC
low complexity region	936	949	N/A	INTRINSIC
Pfam:Cnd1	1058	1224	2.5e-65	PFAM
low complexity region	1329	1345	N/A	INTRINSIC
low complexity region	1357	1369	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,716,490	I1868V	probably benign	Het
Aaas	A	C	15: 102,347,085	D86E	probably benign	Het
Akap3	A	G	6: 126,866,167	D583G	possibly damaging	Het
Alms1	T	A	6: 85,621,574	D1127E	probably benign	Het
Anks4b	T	A	7: 120,174,084		probably null	Het
Ano8	A	T	8: 71,483,080	F298Y	probably benign	Het
Arhgef2	C	A	3: 88,629,543	Q7K	probably benign	Het
BC055324	A	G	1: 163,959,326	S725P	probably damaging	Het
Cand2	T	C	6: 115,792,980	L917P	probably damaging	Het
Car8	T	C	4: 8,238,083	D44G	probably benign	Het
Cdk1	T	C	10: 69,340,605	N224S	probably benign	Het
Cep162	T	C	9: 87,232,011	E336G	probably benign	Het
Chd7	T	C	4: 8,866,069	M2792T	probably benign	Het
Cyp4f40	A	T	17: 32,667,983	K143*	probably null	Het
Cyth1	T	A	11: 118,183,942	M178L	probably benign	Het
Dcaf11	C	T	14: 55,560,566		probably benign	Het
Dlec1	T	G	9: 119,138,157	W1203G	probably damaging	Het
Fgd4	A	T	16: 16,484,269	S141T	probably benign	Het
Flg2	T	A	3: 93,200,813	D49E	probably damaging	Het
Fyb2	T	A	4: 105,003,889	D647E	unknown	Het
Gstp1	T	C	19: 4,036,698	Y109C	probably damaging	Het
Gtf3c3	T	C	1: 54,428,872	E202G	probably benign	Het
Hephl1	A	G	9: 15,074,267	F698L	probably benign	Het
Hephl1	G	T	9: 15,111,984	P41T	probably damaging	Het
Hmcn1	T	A	1: 150,633,620	E3659V	probably benign	Het
Il27ra	A	T	8: 84,039,359	D229E	probably damaging	Het
Itih2	T	A	2: 10,098,558	D706V	probably damaging	Het
Itpr2	A	T	6: 146,232,428	C1893S	probably benign	Het
Lama5	T	C	2: 180,190,921	N1646S	probably benign	Het
Laptm4b	A	G	15: 34,273,274	D111G	probably damaging	Het
Ldb3	T	A	14: 34,577,299	S123C	probably damaging	Het
Lgals12	C	T	19: 7,603,980	E121K	possibly damaging	Het
Mmp13	T	A	9: 7,277,996	S296R	possibly damaging	Het
Mpeg1	T	C	19: 12,461,874	F232S	probably damaging	Het
Nckap5	A	T	1: 126,026,542	C758S	possibly damaging	Het
Nwd1	A	T	8: 72,667,564	D485V	probably damaging	Het
Olfr150	T	A	9: 39,737,490	I225N	probably damaging	Het
Olfr532	T	G	7: 140,419,504	S90R	probably benign	Het
Olfr791	T	C	10: 129,526,463	F79L	possibly damaging	Het
Pcgf3	G	A	5: 108,486,242	R122Q	probably benign	Het
Pgm5	T	A	19: 24,834,848	I107F	probably damaging	Het
Pid1	G	T	1: 84,038,345	H114N	probably damaging	Het
Pkdrej	T	C	15: 85,819,606	T710A	probably benign	Het
Plpbp	T	A	8: 27,045,137		probably null	Het
Ppfibp2	T	G	7: 107,744,225	F824V	probably damaging	Het
Ppp1r16b	G	A	2: 158,751,178	D226N	probably damaging	Het
Psg17	T	A	7: 18,816,911	T340S	possibly damaging	Het
Pstpip2	T	C	18: 77,873,433	S239P	probably damaging	Het
Ralbp1	A	C	17: 65,859,041	S383A	possibly damaging	Het
Ranbp2	T	A	10: 58,465,147	L613*	probably null	Het
Rgs11	T	C	17: 26,203,372	V49A	probably damaging	Het
Ryr1	C	T	7: 29,092,268	V1404I	probably benign	Het
Secisbp2	G	A	13: 51,679,833	V670I	possibly damaging	Het
Slc22a13	T	A	9: 119,209,060	M1L	probably damaging	Het
Slc5a1	A	T	5: 33,159,182	I591L	probably benign	Het
Tacr2	T	A	10: 62,252,954	V46E	possibly damaging	Het
Tet2	C	T	3: 133,488,278	G132S	probably damaging	Het
Thsd7a	G	A	6: 12,408,852	R724*	probably null	Het
Tmco3	A	T	8: 13,291,782	I19L	probably benign	Het
Tnfrsf1a	T	A	6: 125,357,805	L14Q	probably benign	Het
Tpm1	A	T	9: 67,028,089	L248Q	probably benign	Het
Tprn	T	A	2: 25,264,015	I443N	probably benign	Het
Unc80	A	T	1: 66,612,131	H1545L	possibly damaging	Het
Vmn2r97	T	A	17: 18,947,842	M786K	probably damaging	Het
Wipi1	C	T	11: 109,603,819	V63M	probably damaging	Het
Zcchc4	G	A	5: 52,819,382	R506H	unknown	Het
Zfand6	A	T	7: 84,632,691	V110E	probably benign	Het
Zfp866	A	T	8: 69,766,731	Y80N	possibly damaging	Het

Other mutations in Ncapd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Ncapd2	APN	6	125173425	missense	probably benign	0.05
IGL00960:Ncapd2	APN	6	125173848	missense	probably benign
IGL01307:Ncapd2	APN	6	125168619	missense	possibly damaging	0.56
IGL01612:Ncapd2	APN	6	125177872	missense	probably benign	0.01
IGL01903:Ncapd2	APN	6	125177460	missense	probably benign
IGL01987:Ncapd2	APN	6	125185841	splice site	probably benign
IGL01998:Ncapd2	APN	6	125173115	missense	probably benign	0.18
IGL01998:Ncapd2	APN	6	125169933	missense	probably damaging	1.00
IGL02329:Ncapd2	APN	6	125189818	missense	probably damaging	0.99
IGL02550:Ncapd2	APN	6	125177447	missense	probably benign
IGL02662:Ncapd2	APN	6	125176731	missense	probably damaging	1.00
IGL02817:Ncapd2	APN	6	125170914	critical splice donor site	probably null
IGL03121:Ncapd2	APN	6	125173612	missense	probably benign	0.00
IGL03206:Ncapd2	APN	6	125171697	missense	possibly damaging	0.85
FR4548:Ncapd2	UTSW	6	125173596	critical splice donor site	probably benign
PIT4305001:Ncapd2	UTSW	6	125184027	nonsense	probably null
R0486:Ncapd2	UTSW	6	125184027	nonsense	probably null
R0635:Ncapd2	UTSW	6	125173036	missense	probably benign	0.00
R0699:Ncapd2	UTSW	6	125169880	missense	probably benign
R0746:Ncapd2	UTSW	6	125174264	missense	possibly damaging	0.50
R0893:Ncapd2	UTSW	6	125173482	missense	probably benign
R1385:Ncapd2	UTSW	6	125173115	missense	probably benign	0.18
R1513:Ncapd2	UTSW	6	125170992	missense	probably damaging	1.00
R1601:Ncapd2	UTSW	6	125185772	missense	probably damaging	1.00
R1698:Ncapd2	UTSW	6	125168590	missense	probably null	0.39
R2030:Ncapd2	UTSW	6	125176715	missense	possibly damaging	0.95
R2035:Ncapd2	UTSW	6	125184528	missense	probably benign	0.17
R2359:Ncapd2	UTSW	6	125179416	unclassified	probably benign
R3951:Ncapd2	UTSW	6	125186784	missense	probably damaging	0.98
R3952:Ncapd2	UTSW	6	125186784	missense	probably damaging	0.98
R3953:Ncapd2	UTSW	6	125170734	missense	probably damaging	0.96
R4623:Ncapd2	UTSW	6	125173609	missense	probably benign	0.04
R4630:Ncapd2	UTSW	6	125179233	splice site	probably null
R4667:Ncapd2	UTSW	6	125184518	missense	possibly damaging	0.69
R4769:Ncapd2	UTSW	6	125185745	missense	probably damaging	1.00
R4936:Ncapd2	UTSW	6	125169840	missense	probably benign	0.18
R5130:Ncapd2	UTSW	6	125169924	missense	possibly damaging	0.90
R5465:Ncapd2	UTSW	6	125176783	missense	probably damaging	0.98
R5806:Ncapd2	UTSW	6	125181154	missense	probably damaging	0.98
R5823:Ncapd2	UTSW	6	125168700	missense	probably benign	0.00
R5888:Ncapd2	UTSW	6	125187089	missense	probably damaging	1.00
R5940:Ncapd2	UTSW	6	125168869	missense	probably benign
R6198:Ncapd2	UTSW	6	125179323	nonsense	probably null
R6406:Ncapd2	UTSW	6	125173878	missense	probably benign
R6652:Ncapd2	UTSW	6	125186270	missense	probably benign	0.13
R6959:Ncapd2	UTSW	6	125168920	missense	probably benign
R6977:Ncapd2	UTSW	6	125171509	missense	probably damaging	1.00
R6982:Ncapd2	UTSW	6	125176736	missense	probably damaging	0.96
R7143:Ncapd2	UTSW	6	125179561	missense	probably benign
R7144:Ncapd2	UTSW	6	125176670	missense	probably benign	0.11
R7186:Ncapd2	UTSW	6	125186156	missense	possibly damaging	0.89
R7203:Ncapd2	UTSW	6	125184328	missense	possibly damaging	0.58
R7384:Ncapd2	UTSW	6	125173401	missense	probably benign
R8039:Ncapd2	UTSW	6	125181026	missense	probably damaging	0.98
R8047:Ncapd2	UTSW	6	125189799	missense	probably damaging	0.98
R8048:Ncapd2	UTSW	6	125179698	nonsense	probably null
R8056:Ncapd2	UTSW	6	125171043	missense	probably damaging	1.00
R8097:Ncapd2	UTSW	6	125168982	missense	possibly damaging	0.78
R8489:Ncapd2	UTSW	6	125173782	missense	probably damaging	0.98
R8496:Ncapd2	UTSW	6	125170164	missense	probably damaging	0.99
R8776:Ncapd2	UTSW	6	125177513	missense	probably benign
R8776-TAIL:Ncapd2	UTSW	6	125177513	missense	probably benign
R9015:Ncapd2	UTSW	6	125168322	unclassified	probably benign
R9042:Ncapd2	UTSW	6	125179338	missense	probably benign
R9358:Ncapd2	UTSW	6	125186143	missense	probably benign	0.00
R9437:Ncapd2	UTSW	6	125176692	missense	probably damaging	0.99
RF045:Ncapd2	UTSW	6	125179236	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CAGAGCTCTGGGTTGCTGTATAAG -3'
(R):5'- TCTTAAAGCAGGGTGAAGCG -3'

Sequencing Primer
(F):5'- CTGTATAAGCCAGGGTTGTTACAGAC -3'
(R):5'- GGTGCACGCCTTTAATGC -3'

Posted On

2021-03-08