Mutagenetix > Incidental Mutation

Incidental Mutation 'R4667:Ncapd2'

352027

Institutional Source

Beutler Lab

Gene Symbol

Ncapd2

Ensembl Gene

ENSMUSG00000038252

Gene Name

non-SMC condensin I complex, subunit D2

Synonyms

2810406C15Rik, CAP-D2, CNAP1, 2810465G24Rik

MMRRC Submission

042012-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R4667 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125144970-125168664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125161481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 211 (I211T)

Ref Sequence

ENSEMBL: ENSMUSP00000042260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043848] [ENSMUST00000188762] [ENSMUST00000189959]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043848
AA Change: I211T

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: I211T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187351

Predicted Effect

probably benign
Transcript: ENSMUST00000188762

Predicted Effect

probably benign
Transcript: ENSMUST00000189959

SMART Domains

Protein: ENSMUSP00000139445
Gene: ENSMUSG00000038252

Domain	Start	End	E-Value	Type
Pfam:Cnd1_N	73	162	8.3e-6	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,901,923 (GRCm39)	L147P	probably damaging	Het
Adgra3	T	A	5: 50,136,298 (GRCm39)	Y729F	possibly damaging	Het
Ago2	A	G	15: 73,018,265 (GRCm39)	Y58H	probably damaging	Het
Akap13	A	G	7: 75,378,842 (GRCm39)	T2128A	probably damaging	Het
Ankhd1	C	A	18: 36,781,074 (GRCm39)	P2042Q	possibly damaging	Het
Arhgef15	T	C	11: 68,845,387 (GRCm39)	K155R	probably benign	Het
Atp10b	T	C	11: 43,138,345 (GRCm39)	F1209L	probably damaging	Het
B130006D01Rik	A	T	11: 95,617,335 (GRCm39)		probably benign	Het
Bmpr2	T	C	1: 59,906,875 (GRCm39)	L656S	probably damaging	Het
Bnip5	G	T	17: 29,127,287 (GRCm39)	Q241K	possibly damaging	Het
Btbd17	A	G	11: 114,684,683 (GRCm39)	F119L	possibly damaging	Het
Ccdc191	G	T	16: 43,751,646 (GRCm39)	K267N	probably damaging	Het
Cd200l1	A	G	16: 45,264,526 (GRCm39)	S11P	probably benign	Het
Ceacam20	T	C	7: 19,719,952 (GRCm39)	Y495H	probably damaging	Het
Celf2	T	C	2: 6,726,339 (GRCm39)	I47V	probably benign	Het
Cemip2	G	A	19: 21,774,715 (GRCm39)	R119H	probably benign	Het
Cemip2	C	T	19: 21,822,145 (GRCm39)	A1180V	probably benign	Het
Chd9	T	C	8: 91,760,428 (GRCm39)	S2058P	possibly damaging	Het
Clcn6	T	C	4: 148,108,624 (GRCm39)	E135G	possibly damaging	Het
Cntn1	T	A	15: 92,192,960 (GRCm39)	N687K	probably damaging	Het
Col1a2	A	T	6: 4,512,412 (GRCm39)	M99L	unknown	Het
Cpeb2	T	C	5: 43,391,235 (GRCm39)		probably benign	Het
Csn1s2b	A	G	5: 87,970,170 (GRCm39)	T134A	possibly damaging	Het
Cst13	A	T	2: 148,665,001 (GRCm39)		probably benign	Het
Cyp2c66	T	A	19: 39,165,100 (GRCm39)	D360E	probably damaging	Het
Dhx8	A	G	11: 101,628,987 (GRCm39)	S179G	unknown	Het
Dip2b	A	G	15: 100,049,241 (GRCm39)	I212V	probably benign	Het
Dnah9	G	A	11: 66,046,357 (GRCm39)	H64Y	probably benign	Het
Dnal1	T	C	12: 84,183,474 (GRCm39)		probably benign	Het
Dse	T	G	10: 34,029,008 (GRCm39)	Y694S	probably damaging	Het
Dync2h1	T	C	9: 7,051,411 (GRCm39)	I3175V	probably benign	Het
Elf5	A	G	2: 103,279,405 (GRCm39)	N209D	probably damaging	Het
Elovl1	A	G	4: 118,287,984 (GRCm39)	Y40C	probably damaging	Het
Erp27	T	C	6: 136,885,150 (GRCm39)	E216G	possibly damaging	Het
F5	G	A	1: 164,001,755 (GRCm39)	V153I	probably benign	Het
Fam186a	G	A	15: 99,842,413 (GRCm39)	T1277I	possibly damaging	Het
Fam90a1a	A	T	8: 22,453,362 (GRCm39)	H239L	possibly damaging	Het
Fchsd2	G	T	7: 100,899,656 (GRCm39)	R334L	probably damaging	Het
Fermt3	T	C	19: 6,980,288 (GRCm39)	Y369C	probably damaging	Het
Fhod3	C	T	18: 25,199,395 (GRCm39)	P689S	probably benign	Het
Fnbp1l	G	T	3: 122,350,216 (GRCm39)	Q332K	probably benign	Het
Frem3	T	C	8: 81,390,049 (GRCm39)	S1767P	probably damaging	Het
Ggt5	T	C	10: 75,438,865 (GRCm39)	L121P	probably damaging	Het
Gphn	T	C	12: 78,501,591 (GRCm39)	S119P	probably damaging	Het
Herc2	A	G	7: 55,781,001 (GRCm39)	D1222G	probably damaging	Het
Hmx3	T	C	7: 131,146,111 (GRCm39)	I273T	possibly damaging	Het
Hnrnpu	A	G	1: 178,159,746 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,266,956 (GRCm39)	T1987I	possibly damaging	Het
Ighv1-22	T	A	12: 114,710,071 (GRCm39)	Q58L	probably damaging	Het
Ighv14-3	T	A	12: 114,023,875 (GRCm39)	I7F	probably benign	Het
Kcns3	C	A	12: 11,141,784 (GRCm39)	R305L	probably damaging	Het
Kcnu1	C	T	8: 26,400,949 (GRCm39)	A699V	possibly damaging	Het
Kif22	A	C	7: 126,632,500 (GRCm39)	L270W	probably damaging	Het
Lrp2	G	T	2: 69,319,642 (GRCm39)	H1960Q	probably benign	Het
Marchf7	C	T	2: 60,071,394 (GRCm39)	Q94*	probably null	Het
Mcoln3	A	T	3: 145,836,959 (GRCm39)	I264F	probably benign	Het
Mdn1	A	C	4: 32,679,572 (GRCm39)	T706P	probably damaging	Het
Mfsd2b	A	G	12: 4,917,636 (GRCm39)	C137R	probably benign	Het
Mmp25	A	G	17: 23,863,581 (GRCm39)	V83A	probably benign	Het
Mocos	T	C	18: 24,799,491 (GRCm39)	Y242H	probably benign	Het
Msh6	T	C	17: 88,292,234 (GRCm39)	S330P	possibly damaging	Het
Mtus2	T	C	5: 148,235,070 (GRCm39)	S1156P	possibly damaging	Het
Muc5b	G	A	7: 141,396,116 (GRCm39)	R124H	unknown	Het
Mybbp1a	G	A	11: 72,338,797 (GRCm39)	E775K	possibly damaging	Het
Myo10	A	G	15: 25,793,239 (GRCm39)	E1272G	possibly damaging	Het
Nars1	A	G	18: 64,638,302 (GRCm39)	S254P	possibly damaging	Het
Ncoa7	A	T	10: 30,566,786 (GRCm39)	W582R	probably damaging	Het
Npr3	T	A	15: 11,905,553 (GRCm39)	D58V	possibly damaging	Het
Nr3c1	G	T	18: 39,561,780 (GRCm39)	T430K	probably benign	Het
Odf2l	A	G	3: 144,833,801 (GRCm39)	T111A	probably benign	Het
Ogdh	G	T	11: 6,290,600 (GRCm39)	C406F	probably benign	Het
Olfml2a	T	G	2: 38,839,022 (GRCm39)	S190A	probably damaging	Het
Optn	T	C	2: 5,037,950 (GRCm39)	K415E	probably benign	Het
Or10n1	T	C	9: 39,525,034 (GRCm39)	M57T	probably damaging	Het
Or52a20	A	G	7: 103,365,845 (GRCm39)	T15A	probably benign	Het
Or8b12i	T	C	9: 20,082,394 (GRCm39)	I158V	probably benign	Het
Or8g52	G	T	9: 39,631,005 (GRCm39)	V161F	probably benign	Het
Pakap	A	T	4: 57,855,655 (GRCm39)	D328V	possibly damaging	Het
Perm1	C	A	4: 156,304,663 (GRCm39)	S803*	probably null	Het
Pex14	T	C	4: 149,068,542 (GRCm39)	T84A	probably benign	Het
Pih1d2	T	A	9: 50,532,252 (GRCm39)	Y103*	probably null	Het
Pikfyve	T	A	1: 65,289,432 (GRCm39)	C1235S	probably damaging	Het
Polr1a	A	G	6: 71,894,805 (GRCm39)	N171S	probably benign	Het
Prrx1	A	G	1: 163,081,616 (GRCm39)	S201P	probably benign	Het
Psme2b	A	T	11: 48,836,493 (GRCm39)	N151K	probably benign	Het
Serpinb5	A	T	1: 106,800,025 (GRCm39)	T72S	probably benign	Het
Sgsm1	A	G	5: 113,407,913 (GRCm39)		probably null	Het
Sipa1l2	T	C	8: 126,180,209 (GRCm39)	R1063G	possibly damaging	Het
Slc19a3	T	C	1: 83,000,520 (GRCm39)	T166A	probably benign	Het
Slc5a4b	T	C	10: 75,910,879 (GRCm39)	Y319C	possibly damaging	Het
Stard3nl	T	A	13: 19,560,689 (GRCm39)	N29Y	probably damaging	Het
Sult6b2	G	T	6: 142,747,421 (GRCm39)	C109*	probably null	Het
Tcf25	A	G	8: 124,123,764 (GRCm39)	E467G	possibly damaging	Het
Tmem177	A	T	1: 119,837,950 (GRCm39)	V243D	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tspan11	T	A	6: 127,920,678 (GRCm39)	C208*	probably null	Het
Ttc1	A	G	11: 43,636,144 (GRCm39)	V33A	probably benign	Het
Tut4	G	A	4: 108,352,356 (GRCm39)	E357K	probably damaging	Het
Uck1	T	A	2: 32,146,046 (GRCm39)	H283L	probably damaging	Het
Utrn	A	C	10: 12,573,797 (GRCm39)	V1091G	probably benign	Het
Vmn1r11	A	T	6: 57,114,483 (GRCm39)	H49L	probably damaging	Het
Vmn1r160	G	T	7: 22,571,478 (GRCm39)	S277I	probably benign	Het
Vmn1r18	A	T	6: 57,367,069 (GRCm39)	S162T	probably benign	Het
Vps37b	A	G	5: 124,148,795 (GRCm39)	L80P	probably damaging	Het
Wfdc3	T	C	2: 164,585,006 (GRCm39)	M1V	probably null	Het
Wrn	A	T	8: 33,814,366 (GRCm39)	N116K	probably benign	Het
Wscd2	G	T	5: 113,715,333 (GRCm39)	G391V	probably damaging	Het
Zfp286	A	G	11: 62,671,428 (GRCm39)	V215A	probably benign	Het
Zfp568	A	G	7: 29,722,702 (GRCm39)	H549R	probably damaging	Het

Other mutations in Ncapd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Ncapd2	APN	6	125,150,388 (GRCm39)	missense	probably benign	0.05
IGL00960:Ncapd2	APN	6	125,150,811 (GRCm39)	missense	probably benign
IGL01307:Ncapd2	APN	6	125,145,582 (GRCm39)	missense	possibly damaging	0.56
IGL01612:Ncapd2	APN	6	125,154,835 (GRCm39)	missense	probably benign	0.01
IGL01903:Ncapd2	APN	6	125,154,423 (GRCm39)	missense	probably benign
IGL01987:Ncapd2	APN	6	125,162,804 (GRCm39)	splice site	probably benign
IGL01998:Ncapd2	APN	6	125,146,896 (GRCm39)	missense	probably damaging	1.00
IGL01998:Ncapd2	APN	6	125,150,078 (GRCm39)	missense	probably benign	0.18
IGL02329:Ncapd2	APN	6	125,166,781 (GRCm39)	missense	probably damaging	0.99
IGL02550:Ncapd2	APN	6	125,154,410 (GRCm39)	missense	probably benign
IGL02662:Ncapd2	APN	6	125,153,694 (GRCm39)	missense	probably damaging	1.00
IGL02817:Ncapd2	APN	6	125,147,877 (GRCm39)	critical splice donor site	probably null
IGL03121:Ncapd2	APN	6	125,150,575 (GRCm39)	missense	probably benign	0.00
IGL03206:Ncapd2	APN	6	125,148,660 (GRCm39)	missense	possibly damaging	0.85
FR4548:Ncapd2	UTSW	6	125,150,559 (GRCm39)	critical splice donor site	probably benign
PIT4305001:Ncapd2	UTSW	6	125,160,990 (GRCm39)	nonsense	probably null
R0486:Ncapd2	UTSW	6	125,160,990 (GRCm39)	nonsense	probably null
R0635:Ncapd2	UTSW	6	125,149,999 (GRCm39)	missense	probably benign	0.00
R0699:Ncapd2	UTSW	6	125,146,843 (GRCm39)	missense	probably benign
R0746:Ncapd2	UTSW	6	125,151,227 (GRCm39)	missense	possibly damaging	0.50
R0893:Ncapd2	UTSW	6	125,150,445 (GRCm39)	missense	probably benign
R1385:Ncapd2	UTSW	6	125,150,078 (GRCm39)	missense	probably benign	0.18
R1513:Ncapd2	UTSW	6	125,147,955 (GRCm39)	missense	probably damaging	1.00
R1601:Ncapd2	UTSW	6	125,162,735 (GRCm39)	missense	probably damaging	1.00
R1698:Ncapd2	UTSW	6	125,145,553 (GRCm39)	missense	probably null	0.39
R2030:Ncapd2	UTSW	6	125,153,678 (GRCm39)	missense	possibly damaging	0.95
R2035:Ncapd2	UTSW	6	125,161,491 (GRCm39)	missense	probably benign	0.17
R2359:Ncapd2	UTSW	6	125,156,379 (GRCm39)	unclassified	probably benign
R3951:Ncapd2	UTSW	6	125,163,747 (GRCm39)	missense	probably damaging	0.98
R3952:Ncapd2	UTSW	6	125,163,747 (GRCm39)	missense	probably damaging	0.98
R3953:Ncapd2	UTSW	6	125,147,697 (GRCm39)	missense	probably damaging	0.96
R4623:Ncapd2	UTSW	6	125,150,572 (GRCm39)	missense	probably benign	0.04
R4630:Ncapd2	UTSW	6	125,156,196 (GRCm39)	splice site	probably null
R4769:Ncapd2	UTSW	6	125,162,708 (GRCm39)	missense	probably damaging	1.00
R4936:Ncapd2	UTSW	6	125,146,803 (GRCm39)	missense	probably benign	0.18
R5130:Ncapd2	UTSW	6	125,146,887 (GRCm39)	missense	possibly damaging	0.90
R5465:Ncapd2	UTSW	6	125,153,746 (GRCm39)	missense	probably damaging	0.98
R5806:Ncapd2	UTSW	6	125,158,117 (GRCm39)	missense	probably damaging	0.98
R5823:Ncapd2	UTSW	6	125,145,663 (GRCm39)	missense	probably benign	0.00
R5888:Ncapd2	UTSW	6	125,164,052 (GRCm39)	missense	probably damaging	1.00
R5940:Ncapd2	UTSW	6	125,145,832 (GRCm39)	missense	probably benign
R6198:Ncapd2	UTSW	6	125,156,286 (GRCm39)	nonsense	probably null
R6406:Ncapd2	UTSW	6	125,150,841 (GRCm39)	missense	probably benign
R6652:Ncapd2	UTSW	6	125,163,233 (GRCm39)	missense	probably benign	0.13
R6959:Ncapd2	UTSW	6	125,145,883 (GRCm39)	missense	probably benign
R6977:Ncapd2	UTSW	6	125,148,472 (GRCm39)	missense	probably damaging	1.00
R6982:Ncapd2	UTSW	6	125,153,699 (GRCm39)	missense	probably damaging	0.96
R7143:Ncapd2	UTSW	6	125,156,524 (GRCm39)	missense	probably benign
R7144:Ncapd2	UTSW	6	125,153,633 (GRCm39)	missense	probably benign	0.11
R7186:Ncapd2	UTSW	6	125,163,119 (GRCm39)	missense	possibly damaging	0.89
R7203:Ncapd2	UTSW	6	125,161,291 (GRCm39)	missense	possibly damaging	0.58
R7384:Ncapd2	UTSW	6	125,150,364 (GRCm39)	missense	probably benign
R8039:Ncapd2	UTSW	6	125,157,989 (GRCm39)	missense	probably damaging	0.98
R8047:Ncapd2	UTSW	6	125,166,762 (GRCm39)	missense	probably damaging	0.98
R8048:Ncapd2	UTSW	6	125,156,661 (GRCm39)	nonsense	probably null
R8056:Ncapd2	UTSW	6	125,148,006 (GRCm39)	missense	probably damaging	1.00
R8097:Ncapd2	UTSW	6	125,145,945 (GRCm39)	missense	possibly damaging	0.78
R8489:Ncapd2	UTSW	6	125,150,745 (GRCm39)	missense	probably damaging	0.98
R8496:Ncapd2	UTSW	6	125,147,127 (GRCm39)	missense	probably damaging	0.99
R8755:Ncapd2	UTSW	6	125,148,817 (GRCm39)	missense	possibly damaging	0.69
R8776:Ncapd2	UTSW	6	125,154,476 (GRCm39)	missense	probably benign
R8776-TAIL:Ncapd2	UTSW	6	125,154,476 (GRCm39)	missense	probably benign
R9015:Ncapd2	UTSW	6	125,145,285 (GRCm39)	unclassified	probably benign
R9042:Ncapd2	UTSW	6	125,156,301 (GRCm39)	missense	probably benign
R9358:Ncapd2	UTSW	6	125,163,106 (GRCm39)	missense	probably benign	0.00
R9437:Ncapd2	UTSW	6	125,153,655 (GRCm39)	missense	probably damaging	0.99
RF045:Ncapd2	UTSW	6	125,156,199 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CCTGGGAGATGGAACGTTAG -3'
(R):5'- ATGGTAACTGGCTGCAATTTAC -3'

Sequencing Primer
(F):5'- TTAGCCATTCAGGGAGAGCTGC -3'
(R):5'- GGCTGCAATTTACTAAATCCTGAAGG -3'

Posted On

2015-10-08