Mutagenetix > Incidental Mutations

Incidental Mutation 'R1649:Nsd2'

174081

Institutional Source

Beutler Lab

Gene Symbol

Nsd2

Ensembl Gene

ENSMUSG00000057406

Gene Name

nuclear receptor binding SET domain protein 2

Synonyms

5830445G22Rik, Whsc1, Whsc1l, C130020C13Rik, 9430010A17Rik, D030027O06Rik, D930023B08Rik

MMRRC Submission

039685-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.876) question?

Stock #

R1649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33820725-33897975 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33854640 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 264 (V264A)

Ref Sequence

ENSEMBL: ENSMUSP00000123460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058096] [ENSMUST00000066854] [ENSMUST00000075812] [ENSMUST00000114397] [ENSMUST00000114399] [ENSMUST00000137191] [ENSMUST00000139845]

Predicted Effect

probably damaging
Transcript: ENSMUST00000058096
AA Change: V264A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058940
Gene: ENSMUSG00000057406
AA Change: V264A

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
PWWP	220	285	3.84e-15	SMART
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC
low complexity region	629	643	N/A	INTRINSIC
PHD	669	711	1.36e-6	SMART
RING	670	710	1.5e1	SMART
PHD	716	763	6.81e-1	SMART
RING	717	762	5.25e-2	SMART
PHD	833	873	2.35e-10	SMART
PWWP	878	940	2.67e-23	SMART
AWS	1011	1062	3.74e-27	SMART
SET	1063	1186	4.48e-43	SMART
PostSET	1187	1203	7.56e-4	SMART
low complexity region	1215	1236	N/A	INTRINSIC
PHD	1241	1284	1.98e-8	SMART
low complexity region	1347	1360	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000066854
AA Change: V264A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067205
Gene: ENSMUSG00000057406
AA Change: V264A

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
PWWP	220	285	3.84e-15	SMART
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC
low complexity region	630	644	N/A	INTRINSIC
PHD	670	712	1.36e-6	SMART
RING	671	711	1.5e1	SMART
PHD	717	764	6.81e-1	SMART
RING	718	763	5.25e-2	SMART
PHD	834	874	2.35e-10	SMART
PWWP	879	941	2.67e-23	SMART
AWS	1012	1063	3.74e-27	SMART
SET	1064	1187	4.48e-43	SMART
PostSET	1188	1204	7.56e-4	SMART
low complexity region	1216	1237	N/A	INTRINSIC
PHD	1242	1285	1.98e-8	SMART
low complexity region	1348	1361	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000075812
AA Change: V264A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075210
Gene: ENSMUSG00000057406
AA Change: V264A

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
PWWP	220	285	3.84e-15	SMART
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC
low complexity region	630	644	N/A	INTRINSIC
PHD	670	712	1.36e-6	SMART
RING	671	711	1.5e1	SMART
PHD	717	764	6.81e-1	SMART
RING	718	763	5.25e-2	SMART
PHD	834	874	2.35e-10	SMART
PWWP	879	941	2.67e-23	SMART
AWS	1012	1063	3.74e-27	SMART
SET	1064	1187	4.48e-43	SMART
PostSET	1188	1204	7.56e-4	SMART
low complexity region	1216	1237	N/A	INTRINSIC
PHD	1242	1285	1.98e-8	SMART
low complexity region	1348	1361	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114397
AA Change: V264A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110039
Gene: ENSMUSG00000057406
AA Change: V264A

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:PWWP	220	332	4.7e-26	PFAM
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114399
AA Change: V264A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110041
Gene: ENSMUSG00000057406
AA Change: V264A

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:PWWP	220	332	4.9e-26	PFAM
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000137191
AA Change: V264A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122310
Gene: ENSMUSG00000057406
AA Change: V264A

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:PWWP	220	332	4.9e-26	PFAM
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000139845
AA Change: V264A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123460
Gene: ENSMUSG00000057406
AA Change: V264A

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Pfam:PWWP	220	332	4.9e-26	PFAM
low complexity region	397	408	N/A	INTRINSIC
HMG	452	522	7.64e-9	SMART
low complexity region	532	545	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000141416
AA Change: V245A

SMART Domains

Protein: ENSMUSP00000117233
Gene: ENSMUSG00000057406
AA Change: V245A

Domain	Start	End	E-Value	Type
Pfam:PWWP	202	314	1.1e-25	PFAM
low complexity region	379	390	N/A	INTRINSIC
HMG	434	504	4.7e-9	SMART

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 88.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display reduced fetal size, failed sternum ossification, cleft palate, atrial and ventricular septal defects, stunted growth and postnatal death. Some heterozygotes show severe growth defects, malocclusion, delayed sternum ossification and hypoplasia of the septum secundum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	A	G	8: 3,389,094		probably benign	Het
Akr1a1	T	A	4: 116,638,020	I261F	probably damaging	Het
Aldh1l1	T	C	6: 90,564,389	V255A	probably benign	Het
Ambn	T	A	5: 88,464,481	M172K	probably benign	Het
BC034090	T	C	1: 155,225,573	H315R	possibly damaging	Het
Btaf1	T	A	19: 36,981,722	D707E	probably benign	Het
C6	T	C	15: 4,735,257	L145P	possibly damaging	Het
Cav3	T	A	6: 112,472,246	L75Q	probably damaging	Het
Cavin2	T	A	1: 51,300,780	D205E	probably benign	Het
Cdadc1	T	C	14: 59,573,793	T423A	probably damaging	Het
Cep120	A	T	18: 53,724,576	H272Q	probably damaging	Het
Chd9	A	T	8: 90,932,601	Q63L	possibly damaging	Het
Clspn	T	C	4: 126,566,435		probably benign	Het
Cramp1l	G	T	17: 24,983,243	H422N	probably damaging	Het
Csn1s2b	A	T	5: 87,819,084	M71L	probably benign	Het
D630045J12Rik	C	A	6: 38,181,431	A1104S	probably damaging	Het
D930048N14Rik	A	G	11: 51,654,836		probably benign	Het
Ern2	G	A	7: 122,177,400	P366S	probably damaging	Het
Gm1527	T	C	3: 28,898,731	I60T	probably damaging	Het
Gse1	T	C	8: 120,578,515		probably benign	Het
Ildr1	T	C	16: 36,708,319	L42P	probably damaging	Het
Itih2	G	A	2: 10,105,735	T515I	probably benign	Het
Jcad	C	A	18: 4,673,309	P357Q	probably damaging	Het
Kitl	A	G	10: 100,064,114	T94A	probably benign	Het
Klri1	C	T	6: 129,698,241	M185I	probably benign	Het
Lsamp	A	T	16: 41,955,298	M171L	probably benign	Het
Macf1	T	G	4: 123,484,053	I1460L	probably damaging	Het
Map1b	C	G	13: 99,516,478	V4L	probably benign	Het
Mboat7	A	T	7: 3,685,818	V237D	probably benign	Het
Mctp2	A	T	7: 72,161,258	I656K	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Nipsnap2	T	A	5: 129,753,237	I205N	probably damaging	Het
Oacyl	C	T	18: 65,750,096	T582I	probably damaging	Het
Olfm1	A	T	2: 28,229,267	T333S	possibly damaging	Het
Olfm4	G	A	14: 80,011,982	E180K	probably damaging	Het
Olfr127	T	C	17: 37,904,169	F208L	probably benign	Het
Olfr1368	A	T	13: 21,142,742	L105Q	probably damaging	Het
Olfr146	T	G	9: 39,019,480	Q20H	probably benign	Het
Parp4	T	A	14: 56,590,428	V212E	possibly damaging	Het
Pcdhb21	T	A	18: 37,515,613	N598K	probably damaging	Het
Piezo2	C	A	18: 63,117,672	W452L	probably benign	Het
Plec	C	A	15: 76,205,811	A110S	possibly damaging	Het
Popdc3	T	C	10: 45,315,224	Y144H	probably damaging	Het
Ptgdr	T	C	14: 44,858,502	H251R	probably benign	Het
Ptpro	T	A	6: 137,444,017	Y246*	probably null	Het
Pyroxd2	T	C	19: 42,738,134	D247G	probably damaging	Het
Robo2	T	C	16: 73,899,001	E1418G	probably benign	Het
Rtp3	T	C	9: 110,986,704	T198A	probably benign	Het
Sec16a	A	T	2: 26,425,524	V1767D	probably damaging	Het
Sept14	T	C	5: 129,697,755	N119D	probably benign	Het
Serpina5	A	T	12: 104,105,225	T364S	possibly damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Sh3bp2	C	T	5: 34,559,004	A253V	possibly damaging	Het
Slc6a5	G	T	7: 49,936,262	G443C	probably damaging	Het
Spag9	T	A	11: 94,108,452		probably null	Het
Sptbn1	T	C	11: 30,137,301	E1033G	probably damaging	Het
Timm17a	T	G	1: 135,309,802	Q39P	probably damaging	Het
Tmem26	A	T	10: 68,751,273	T184S	probably damaging	Het
Tpi1	A	T	6: 124,812,928		probably null	Het
Tssk5	T	C	15: 76,373,803	Y118C	possibly damaging	Het
Ttll4	T	A	1: 74,697,470	L1118Q	possibly damaging	Het
Ttll5	T	A	12: 85,923,014	L691Q	probably damaging	Het
Vmn1r49	A	T	6: 90,072,641	H126Q	possibly damaging	Het
Zfp518b	A	T	5: 38,671,881	V927E	probably damaging	Het
Zfp618	T	C	4: 63,095,537	F213S	probably damaging	Het
Zfp759	T	A	13: 67,139,604	N406K	probably benign	Het

Other mutations in Nsd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Nsd2	APN	5	33855733	missense	probably damaging	1.00
IGL00420:Nsd2	APN	5	33883003	missense	possibly damaging	0.82
IGL01343:Nsd2	APN	5	33843578	missense	probably damaging	1.00
IGL01403:Nsd2	APN	5	33885378	splice site	probably benign
IGL01446:Nsd2	APN	5	33861186	splice site	probably benign
IGL01571:Nsd2	APN	5	33864687	missense	probably benign	0.32
IGL01862:Nsd2	APN	5	33843736	missense	probably null	1.00
IGL02040:Nsd2	APN	5	33867571	splice site	probably benign
IGL02528:Nsd2	APN	5	33879051	unclassified	probably benign
IGL02553:Nsd2	APN	5	33846198	missense	probably damaging	1.00
IGL02799:Nsd2	APN	5	33864788	splice site	probably benign
IGL02932:Nsd2	APN	5	33880128	missense	probably damaging	1.00
Navratilova	UTSW	5	33885490	missense	probably damaging	0.97
Tennis	UTSW	5	33843513	missense	probably damaging	1.00
R0136:Nsd2	UTSW	5	33855536	missense	possibly damaging	0.89
R0372:Nsd2	UTSW	5	33891551	missense	probably damaging	0.98
R0521:Nsd2	UTSW	5	33843338	missense	probably damaging	1.00
R0548:Nsd2	UTSW	5	33893538	missense	probably damaging	1.00
R0726:Nsd2	UTSW	5	33861028	unclassified	probably benign
R1018:Nsd2	UTSW	5	33843241	missense	probably damaging	1.00
R1638:Nsd2	UTSW	5	33882120	missense	possibly damaging	0.87
R1675:Nsd2	UTSW	5	33861149	missense	probably benign	0.04
R1900:Nsd2	UTSW	5	33846169	missense	probably benign
R2001:Nsd2	UTSW	5	33843402	missense	probably damaging	1.00
R2167:Nsd2	UTSW	5	33882919	missense	probably damaging	1.00
R2261:Nsd2	UTSW	5	33885527	missense	probably damaging	1.00
R2966:Nsd2	UTSW	5	33846122	missense	probably benign	0.01
R3931:Nsd2	UTSW	5	33846117	missense	probably benign	0.01
R4429:Nsd2	UTSW	5	33843202	missense	probably damaging	1.00
R4596:Nsd2	UTSW	5	33882918	missense	probably damaging	1.00
R4958:Nsd2	UTSW	5	33892022	missense	probably damaging	1.00
R5346:Nsd2	UTSW	5	33879136	missense	possibly damaging	0.94
R5957:Nsd2	UTSW	5	33855603	missense	probably damaging	1.00
R6054:Nsd2	UTSW	5	33882161	missense	probably damaging	1.00
R6124:Nsd2	UTSW	5	33843266	missense	probably benign	0.08
R6302:Nsd2	UTSW	5	33867577	missense	possibly damaging	0.93
R6390:Nsd2	UTSW	5	33881181	missense	probably damaging	1.00
R6496:Nsd2	UTSW	5	33843513	missense	probably damaging	1.00
R6828:Nsd2	UTSW	5	33893568	missense	probably damaging	0.98
R6925:Nsd2	UTSW	5	33879110	missense	probably damaging	1.00
R7148:Nsd2	UTSW	5	33885511	missense	possibly damaging	0.57
R7311:Nsd2	UTSW	5	33892036	missense	probably damaging	1.00
R7337:Nsd2	UTSW	5	33885472	missense	probably damaging	1.00
R7466:Nsd2	UTSW	5	33882147	nonsense	probably null
R7567:Nsd2	UTSW	5	33846226	missense	probably damaging	0.99
R7704:Nsd2	UTSW	5	33871467	makesense	probably null
R7822:Nsd2	UTSW	5	33843594	missense	probably damaging	0.97
R7939:Nsd2	UTSW	5	33855589	missense	probably benign	0.22
R8127:Nsd2	UTSW	5	33885490	missense	probably damaging	0.97
R8485:Nsd2	UTSW	5	33882845	missense	probably damaging	1.00
X0020:Nsd2	UTSW	5	33854757	missense	probably damaging	1.00
Z1088:Nsd2	UTSW	5	33855738	critical splice donor site	probably null
Z1177:Nsd2	UTSW	5	33855520	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTGCCCTTCTGCTGAAGTCTTG -3'
(R):5'- AGGTCACACTAAAGGAGCATCTATCACC -3'

Sequencing Primer
(F):5'- GCTGAAGTCTTGTCTTGTCTAAAATC -3'
(R):5'- AGGAGCATCTATCACCTTGATTTTC -3'

Posted On

2014-04-24