Mutagenetix > Incidental Mutation

Incidental Mutation 'R2570:Ncaph2'

252422

Institutional Source

Beutler Lab

Gene Symbol

Ncaph2

Ensembl Gene

ENSMUSG00000008690

Gene Name

non-SMC condensin II complex, subunit H2

Synonyms

0610010J20Rik, 2610524G04Rik, D15Ertd785e, Kleisin beta

MMRRC Submission

040428-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R2570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89239922-89257029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89254678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 399 (D399E)

Ref Sequence

ENSEMBL: ENSMUSP00000036900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023285] [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000145259] [ENSMUST00000167643] [ENSMUST00000228977]

AlphaFold

Q8BSP2

Predicted Effect

probably benign
Transcript: ENSMUST00000023285

SMART Domains

Protein: ENSMUSP00000023285
Gene: ENSMUSG00000022615

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:Glycos_trans_3N	23	85	1.5e-20	PFAM
Pfam:Glycos_transf_3	95	326	3.1e-50	PFAM
PYNP_C	374	448	6.46e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036987
AA Change: D399E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690
AA Change: D399E

Domain	Start	End	E-Value	Type
Pfam:DUF1032	20	576	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074552
AA Change: D430E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690
AA Change: D430E

Domain	Start	End	E-Value	Type
Pfam:DUF1032	51	607	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088717
AA Change: D430E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690
AA Change: D430E

Domain	Start	End	E-Value	Type
Pfam:CNDH2_N	11	123	1.2e-48	PFAM
Pfam:CNDH2_M	147	285	2.1e-20	PFAM
Pfam:CNDH2_C	308	598	1.9e-90	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147733

Predicted Effect

probably benign
Transcript: ENSMUST00000145259

Predicted Effect

probably benign
Transcript: ENSMUST00000167643

SMART Domains

Protein: ENSMUSP00000131943
Gene: ENSMUSG00000091780

Domain	Start	End	E-Value	Type
Pfam:SCO1-SenC	52	234	1.4e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228977

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a component of the condensin-2 complex. The encoded protein may regulate the structure of mitotic chromosomes. Loss of function of this gene disrupts T-cell development. There are two pseudogenes for this gene on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for an ENU-induced single point mutation display a specific defect in T cell development but are otherwise viable, fertile and overtly healthy with no apparent defects in B cell development. Homozygous null mice die before E12.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,768,267 (GRCm39)	N763I	probably damaging	Het
Actr8	T	C	14: 29,709,239 (GRCm39)	V281A	probably damaging	Het
Adam1b	A	T	5: 121,639,811 (GRCm39)	N411K	probably damaging	Het
Adamdec1	T	A	14: 68,816,657 (GRCm39)	Q77L	probably damaging	Het
Adgre4	T	A	17: 56,085,878 (GRCm39)	F59Y	possibly damaging	Het
Akr1c18	T	C	13: 4,192,163 (GRCm39)	N178S	probably benign	Het
Aldh1a7	T	A	19: 20,677,320 (GRCm39)	T434S	probably benign	Het
Bcl10	T	A	3: 145,638,785 (GRCm39)	N142K	probably benign	Het
C1qc	T	C	4: 136,617,402 (GRCm39)	I231M	probably benign	Het
Cacna1b	A	T	2: 24,496,649 (GRCm39)	L2307*	probably null	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Cdc42bpa	G	A	1: 179,977,742 (GRCm39)	R1518Q	possibly damaging	Het
Cdk12	T	G	11: 98,094,618 (GRCm39)	M142R	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cspg4b	C	T	13: 113,455,121 (GRCm39)	T389I	probably benign	Het
Cyp2c50	C	G	19: 40,078,764 (GRCm39)	H90D	probably benign	Het
Dach1	A	G	14: 98,138,847 (GRCm39)	M480T	probably benign	Het
Dennd1a	A	T	2: 37,734,795 (GRCm39)	F57L	probably damaging	Het
Dhcr24	T	C	4: 106,443,029 (GRCm39)	F355L	probably benign	Het
Drc1	A	G	5: 30,512,609 (GRCm39)	R339G	probably damaging	Het
Efcab3	T	A	11: 104,624,490 (GRCm39)	S840R	probably damaging	Het
Efna5	A	T	17: 63,188,023 (GRCm39)	Y35N	probably benign	Het
Ehmt1	A	G	2: 24,705,753 (GRCm39)	V811A	probably damaging	Het
Fam135a	A	T	1: 24,061,045 (GRCm39)	V1114E	probably damaging	Het
Frmd8	C	A	19: 5,924,740 (GRCm39)	R28L	probably damaging	Het
Gm9936	A	G	5: 114,995,605 (GRCm39)		probably benign	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Itgal	T	C	7: 126,913,268 (GRCm39)	F622L	probably damaging	Het
Kalrn	C	T	16: 34,130,865 (GRCm39)	E451K	probably damaging	Het
Kat2a	A	T	11: 100,601,648 (GRCm39)	F256I	probably damaging	Het
Lama4	A	T	10: 38,951,354 (GRCm39)	D1033V	possibly damaging	Het
Lama4	T	A	10: 38,982,043 (GRCm39)	D1757E	probably damaging	Het
Laptm5	T	C	4: 130,659,358 (GRCm39)	Y212H	probably damaging	Het
Lsm10	T	C	4: 125,991,716 (GRCm39)	L24P	probably damaging	Het
Mtcl3	A	T	10: 29,022,761 (GRCm39)	Q36L	possibly damaging	Het
Mtfp1	T	C	11: 4,044,504 (GRCm39)	E27G	probably damaging	Het
Ncor2	T	C	5: 125,105,864 (GRCm39)		probably null	Het
Nek9	A	C	12: 85,379,320 (GRCm39)	Y195*	probably null	Het
Npas1	T	C	7: 16,208,628 (GRCm39)	D83G	probably damaging	Het
Nrsn2	A	T	2: 152,211,741 (GRCm39)	F97I	possibly damaging	Het
Oas1c	T	C	5: 120,943,503 (GRCm39)	N10S	probably benign	Het
Or2ag12	A	G	7: 106,276,874 (GRCm39)	I273T	probably benign	Het
Or55b10	T	C	7: 102,143,106 (GRCm39)	N292S	probably damaging	Het
Or7e165	T	A	9: 19,695,305 (GRCm39)	L292Q	probably damaging	Het
Pcdha4	A	T	18: 37,086,665 (GRCm39)	T283S	probably benign	Het
Pdk1	A	C	2: 71,703,904 (GRCm39)	D64A	possibly damaging	Het
Pramel17	T	C	4: 101,694,443 (GRCm39)	T147A	probably benign	Het
Ptpdc1	C	T	13: 48,739,539 (GRCm39)	A631T	probably benign	Het
Rasal2	G	T	1: 156,988,870 (GRCm39)	A660E	possibly damaging	Het
Sgpp2	T	A	1: 78,336,787 (GRCm39)	V55E	possibly damaging	Het
Shank2	A	T	7: 143,622,507 (GRCm39)	I214F	probably damaging	Het
Slfn14	T	C	11: 83,174,433 (GRCm39)	N186S	probably benign	Het
Sptbn5	A	T	2: 119,879,121 (GRCm39)		noncoding transcript	Het
Stradb	C	T	1: 59,027,743 (GRCm39)	T91I	probably damaging	Het
Sulf2	T	C	2: 165,927,721 (GRCm39)	I359V	probably benign	Het
Tbl3	A	T	17: 24,922,290 (GRCm39)	M405K	possibly damaging	Het
Tecta	G	T	9: 42,243,848 (GRCm39)	D2001E	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tgfbi	T	A	13: 56,786,521 (GRCm39)		probably null	Het
Tmem132a	A	T	19: 10,837,106 (GRCm39)	L612Q	probably null	Het
Tnf	T	C	17: 35,419,476 (GRCm39)	N102S	probably damaging	Het
Trib3	A	T	2: 152,185,156 (GRCm39)	V31D	probably benign	Het
Ube2q2	T	A	9: 55,099,140 (GRCm39)	F248L	probably benign	Het
Usf3	T	C	16: 44,036,744 (GRCm39)	V408A	probably benign	Het
Vmn1r159	T	C	7: 22,542,307 (GRCm39)	M242V	probably benign	Het
Vmn2r105	A	T	17: 20,447,585 (GRCm39)	L413H	probably damaging	Het
Zbtb2	T	G	10: 4,318,673 (GRCm39)	N451T	probably damaging	Het
Zfp593	C	A	4: 133,972,869 (GRCm39)		probably benign	Het

Other mutations in Ncaph2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00784:Ncaph2	APN	15	89,254,243 (GRCm39)	missense	probably damaging	1.00
IGL01640:Ncaph2	APN	15	89,248,041 (GRCm39)	splice site	probably null
IGL02550:Ncaph2	APN	15	89,254,064 (GRCm39)	nonsense	probably null
IGL02884:Ncaph2	APN	15	89,248,447 (GRCm39)	critical splice donor site	probably null
IGL03369:Ncaph2	APN	15	89,247,858 (GRCm39)	missense	probably benign	0.43
R0051:Ncaph2	UTSW	15	89,253,867 (GRCm39)	missense	probably damaging	0.98
R0051:Ncaph2	UTSW	15	89,253,867 (GRCm39)	missense	probably damaging	0.98
R0384:Ncaph2	UTSW	15	89,253,594 (GRCm39)	missense	probably benign	0.00
R1677:Ncaph2	UTSW	15	89,255,427 (GRCm39)	missense	probably damaging	1.00
R1680:Ncaph2	UTSW	15	89,248,825 (GRCm39)	missense	probably benign
R4647:Ncaph2	UTSW	15	89,254,635 (GRCm39)	missense	probably damaging	1.00
R4731:Ncaph2	UTSW	15	89,240,030 (GRCm39)	unclassified	probably benign
R4795:Ncaph2	UTSW	15	89,255,010 (GRCm39)	missense	probably damaging	1.00
R4796:Ncaph2	UTSW	15	89,255,010 (GRCm39)	missense	probably damaging	1.00
R4917:Ncaph2	UTSW	15	89,244,574 (GRCm39)	missense	probably damaging	1.00
R5089:Ncaph2	UTSW	15	89,240,148 (GRCm39)	critical splice donor site	probably null
R6143:Ncaph2	UTSW	15	89,248,206 (GRCm39)	critical splice donor site	probably null
R6500:Ncaph2	UTSW	15	89,248,407 (GRCm39)	missense	probably benign	0.00
R6768:Ncaph2	UTSW	15	89,248,202 (GRCm39)	nonsense	probably null
R6827:Ncaph2	UTSW	15	89,255,530 (GRCm39)	missense	probably damaging	1.00
R7033:Ncaph2	UTSW	15	89,255,559 (GRCm39)	missense	probably benign	0.00
R7272:Ncaph2	UTSW	15	89,248,385 (GRCm39)	missense	probably benign
R7386:Ncaph2	UTSW	15	89,254,459 (GRCm39)	nonsense	probably null
R8867:Ncaph2	UTSW	15	89,254,605 (GRCm39)	missense	probably benign	0.02
R8900:Ncaph2	UTSW	15	89,253,594 (GRCm39)	missense	probably benign	0.00
R9719:Ncaph2	UTSW	15	89,249,526 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTAAGGCAAGTACCCACAGG -3'
(R):5'- AGAGCTCTGGGGCTACATTC -3'

Sequencing Primer
(F):5'- GTACCCACAGGACCAAGGTCTG -3'
(R):5'- TACCGAGGTCAGCAGCTTC -3'

Posted On

2014-12-04