Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4585001:Nabp2'

556617

Institutional Source

Beutler Lab

Gene Symbol

Nabp2

Ensembl Gene

ENSMUSG00000025374

Gene Name

nucleic acid binding protein 2

Synonyms

Nabp2, 2610036N15Rik, Obfc2b

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4585001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128401395-128411492 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 128408807 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 37 (E37Q)

Ref Sequence

ENSEMBL: ENSMUSP00000128634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026439] [ENSMUST00000096386] [ENSMUST00000164199] [ENSMUST00000164664] [ENSMUST00000166608] [ENSMUST00000171342] [ENSMUST00000171370] [ENSMUST00000171494] [ENSMUST00000172238] [ENSMUST00000172348] [ENSMUST00000217826]

AlphaFold

Q8R2Y9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026439
AA Change: E37Q

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026439
Gene: ENSMUSG00000025374
AA Change: E37Q

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	23	105	1.7e-9	PFAM
low complexity region	131	148	N/A	INTRINSIC
low complexity region	161	178	N/A	INTRINSIC
low complexity region	185	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000096386

SMART Domains

Protein: ENSMUSP00000100869
Gene: ENSMUSG00000025373

Domain	Start	End	E-Value	Type
RING	18	56	1.54e-5	SMART
Pfam:USP8_interact	137	315	5.1e-96	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164199
AA Change: E37Q

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128634
Gene: ENSMUSG00000025374
AA Change: E37Q

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	23	105	1.7e-9	PFAM
low complexity region	131	148	N/A	INTRINSIC
low complexity region	161	178	N/A	INTRINSIC
low complexity region	185	203	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164664
AA Change: E37Q

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127605
Gene: ENSMUSG00000025374
AA Change: E37Q

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	22	105	5.8e-10	PFAM
low complexity region	131	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166577

SMART Domains

Protein: ENSMUSP00000128794
Gene: ENSMUSG00000014498

Domain	Start	End	E-Value	Type
ANK	18	48	5.09e-2	SMART
ANK	52	81	2.54e-2	SMART
ANK	88	117	1.34e-1	SMART
Blast:ANK	121	148	3e-9	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166608
AA Change: E53Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131171
Gene: ENSMUSG00000025374
AA Change: E53Q

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	39	120	4.2e-9	PFAM
low complexity region	147	164	N/A	INTRINSIC
low complexity region	177	194	N/A	INTRINSIC
low complexity region	201	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171342

SMART Domains

Protein: ENSMUSP00000132751
Gene: ENSMUSG00000025373

Domain	Start	End	E-Value	Type
RING	18	56	1.54e-5	SMART
Pfam:USP8_interact	137	315	2.3e-91	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171370
AA Change: E37Q

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127436
Gene: ENSMUSG00000025374
AA Change: E37Q

Domain	Start	End	E-Value	Type
PDB:4OWX\|B	1	56	3e-35	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171494
AA Change: E37Q

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126842
Gene: ENSMUSG00000025374
AA Change: E37Q

Domain	Start	End	E-Value	Type
PDB:4OWX\|B	1	65	5e-41	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000172238

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172348
AA Change: E37Q

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127015
Gene: ENSMUSG00000025374
AA Change: E37Q

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	22	105	6.1e-10	PFAM
low complexity region	131	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217826

Coding Region Coverage

1x: 93.6%
3x: 91.2%
10x: 86.5%
20x: 76.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit complete perinatal lethality, fetal growth retardation, abnormal limb development, abnormal cranium morphology, small rib cage, thin and porous bones, cleft palate, oligodactyly, increased apoptosis at E12.5 and increased genomic instability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aurka	T	C	2: 172,357,197	M318V	probably benign	Het
Cacna2d1	T	A	5: 16,326,344	D560E	probably damaging	Het
Ccdc148	T	A	2: 58,982,976	T202S	probably benign	Het
Ccdc155	C	T	7: 45,200,271	G76D	probably benign	Het
Cdc42bpb	T	C	12: 111,304,978	D1149G	probably damaging	Het
Clasp1	T	A	1: 118,462,555	N156K	probably damaging	Het
Cox18	G	A	5: 90,217,575	T255I	possibly damaging	Het
Cse1l	A	G	2: 166,941,474	T783A	probably damaging	Het
Dnajc16	T	C	4: 141,764,685	Y609C	probably damaging	Het
Doc2g	A	G	19: 4,006,630	T339A	probably benign	Het
Eif5a	T	C	11: 69,918,070		probably benign	Het
Epha3	A	G	16: 63,566,577		probably null	Het
Esco1	A	T	18: 10,594,355	C310*	probably null	Het
Fam208b	G	A	13: 3,574,979	A1657V	possibly damaging	Het
Fam222a	A	G	5: 114,611,040	Y99C	probably damaging	Het
Fzd2	T	C	11: 102,605,747	L339P	probably damaging	Het
Gfral	A	T	9: 76,197,294	N145K	probably damaging	Het
Gga1	T	A	15: 78,893,790	N618K	probably benign	Het
Gpatch3	T	A	4: 133,583,086	H447Q	probably damaging	Het
Gpn1	A	T	5: 31,509,403	R346*	probably null	Het
Gsg1	T	C	6: 135,237,560	E317G	probably benign	Het
Gsk3b	A	G	16: 38,184,454	N129S	probably damaging	Het
Hmg20b	G	T	10: 81,348,955	D94E	possibly damaging	Het
Klhdc9	T	A	1: 171,359,818	H204L	possibly damaging	Het
Klhl24	A	G	16: 20,106,888	I55M	probably benign	Het
Kmt2c	T	C	5: 25,315,106	D2002G	probably benign	Het
Lama4	A	G	10: 39,074,746	N1015S	probably damaging	Het
Lpp	T	C	16: 24,761,947	C263R	probably benign	Het
Lrp1b	T	C	2: 41,269,204	I1689V		Het
Mipep	C	A	14: 60,784,835	Q50K	probably benign	Het
Mx1	T	C	16: 97,456,254	D101G	probably benign	Het
Nme6	A	G	9: 109,842,036	I115V	possibly damaging	Het
Nup93	A	T	8: 94,243,727	T85S	probably benign	Het
Oit3	T	A	10: 59,431,013	I224F	possibly damaging	Het
Parp14	T	C	16: 35,858,605	K331R	probably benign	Het
Pls1	T	A	9: 95,761,390	T519S	probably benign	Het
Rcn3	A	G	7: 45,086,694	F197L	probably benign	Het
Rnf213	C	T	11: 119,458,392	T3773I		Het
Rprd1b	A	T	2: 158,047,957	I153L	probably benign	Het
Scel	A	G	14: 103,592,368	D462G	possibly damaging	Het
Sh3bp1	C	T	15: 78,910,076	S548L	possibly damaging	Het
Sim1	T	A	10: 50,984,188	Y715*	probably null	Het
Slc18a2	A	T	19: 59,293,861	Q500L	possibly damaging	Het
Slc5a8	T	G	10: 88,886,503	M66R	probably damaging	Het
Slco1a6	T	C	6: 142,109,520	T233A	probably damaging	Het
Smu1	T	C	4: 40,739,623	T396A	probably benign	Het
Tas2r104	T	C	6: 131,685,558	T63A	possibly damaging	Het
Top2a	C	T	11: 99,001,373	A1088T	probably benign	Het
Ucp1	T	C	8: 83,293,948	F129S	probably damaging	Het
Unc13b	T	A	4: 43,091,298	D41E	probably benign	Het
Usp10	T	G	8: 119,954,892	V696G	probably benign	Het
Xylt2	C	T	11: 94,666,240	V745M	probably damaging	Het
Zbtb49	A	T	5: 38,216,476	N41K	probably damaging	Het
Zfp109	T	A	7: 24,229,354	D218V	probably benign	Het
Zfp420	G	A	7: 29,876,005	R550Q	probably benign	Het

Other mutations in Nabp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Nabp2	APN	10	128408762	missense	probably damaging	0.98
IGL02397:Nabp2	APN	10	128408323	missense	possibly damaging	0.46
ANU22:Nabp2	UTSW	10	128408762	missense	probably damaging	0.98
R1928:Nabp2	UTSW	10	128409313	missense	possibly damaging	0.89
R4909:Nabp2	UTSW	10	128401687	unclassified	probably benign
R5031:Nabp2	UTSW	10	128409628	unclassified	probably benign
R5724:Nabp2	UTSW	10	128409686	unclassified	probably benign
R9747:Nabp2	UTSW	10	128401741	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCAGGATTCGGTCTTCAG -3'
(R):5'- TCTCTCCATGGTGCTGGATC -3'

Sequencing Primer
(F):5'- CAGGATTCGGTCTTCAGAAAAGTTG -3'
(R):5'- ATGGTGCTGGATCTCCACTAC -3'

Posted On

2019-06-07