Mutagenetix > Incidental Mutation

Incidental Mutation 'ANU22:Nabp2'

262592

Institutional Source

Beutler Lab

Gene Symbol

Nabp2

Ensembl Gene

ENSMUSG00000025374

Gene Name

nucleic acid binding protein 2

Synonyms

Obfc2b, 2610036N15Rik, Nabp2, SSB1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

ANU22

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128237264-128247361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128244631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 52 (I52F)

Ref Sequence

ENSEMBL: ENSMUSP00000127436 (fasta)

Gene Model

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

AlphaFold

Q8R2Y9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026439
AA Change: I52F

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026439
Gene: ENSMUSG00000025374
AA Change: I52F

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: I52F

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128634
Gene: ENSMUSG00000025374
AA Change: I52F

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: ENSMUST00000164664
AA Change: I52F

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127605
Gene: ENSMUSG00000025374
AA Change: I52F

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: I68F

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131171
Gene: ENSMUSG00000025374
AA Change: I68F

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

noncoding transcript
Transcript: ENSMUST00000167456

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171494
AA Change: I52F

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126842
Gene: ENSMUSG00000025374
AA Change: I52F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171370
AA Change: I52F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127436
Gene: ENSMUSG00000025374
AA Change: I52F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172348
AA Change: I52F

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127015
Gene: ENSMUSG00000025374
AA Change: I52F

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: ENSMUST00000172238

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

probably benign
Transcript: ENSMUST00000217826

Coding Region Coverage

1x: 98.7%
3x: 98.1%
10x: 96.2%
20x: 92.5%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	A	G	15: 81,797,915 (GRCm39)	E663G	possibly damaging	Het
Adam29	T	A	8: 56,324,879 (GRCm39)	H525L	probably benign	Het
Adamts2	A	G	11: 50,628,190 (GRCm39)	N297D	probably benign	Het
Adamts6	T	A	13: 104,526,590 (GRCm39)	V506E	probably damaging	Het
Ankfy1	G	A	11: 72,655,617 (GRCm39)	E1101K	probably damaging	Het
Arap3	C	T	18: 38,124,380 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,649,503 (GRCm39)	H497Q	probably benign	Het
Caln1	A	G	5: 130,698,392 (GRCm39)	E96G	probably damaging	Het
Cdh23	T	C	10: 60,148,403 (GRCm39)	T2653A	probably damaging	Het
Cdk5rap2	T	A	4: 70,298,472 (GRCm39)	I87F	possibly damaging	Het
Crybg3	T	A	16: 59,349,590 (GRCm39)	H934L	probably damaging	Het
Cyp2d22	G	A	15: 82,255,869 (GRCm39)	T461I	probably damaging	Het
Dhcr24	T	C	4: 106,429,475 (GRCm39)	F183L	possibly damaging	Het
Dusp16	A	T	6: 134,695,824 (GRCm39)	S336T	probably benign	Het
F930017D23Rik	T	G	10: 43,480,371 (GRCm39)		noncoding transcript	Het
Fasl	A	G	1: 161,609,407 (GRCm39)	V193A	probably damaging	Het
Fgf5	T	C	5: 98,423,175 (GRCm39)	Y187H	probably damaging	Het
Focad	C	A	4: 88,311,784 (GRCm39)	Q1423K	probably benign	Het
Gabrp	T	C	11: 33,505,055 (GRCm39)	T249A	probably damaging	Het
Galnt5	A	T	2: 57,915,354 (GRCm39)	K637*	probably null	Het
Grm6	A	T	11: 50,750,346 (GRCm39)	D503V	probably benign	Het
Hmg20a	A	T	9: 56,394,934 (GRCm39)	D216V	probably damaging	Het
Lyst	C	T	13: 13,852,641 (GRCm39)	R2214C	probably benign	Het
Micu2	T	A	14: 58,181,082 (GRCm39)	D184V	probably damaging	Het
Nat8f7	A	T	6: 85,684,570 (GRCm39)	L90*	probably null	Het
Or2z2	A	T	11: 58,346,088 (GRCm39)	M229K	probably damaging	Het
Or4k47	T	C	2: 111,451,546 (GRCm39)	N291S	probably damaging	Het
Pphln1	A	G	15: 93,386,985 (GRCm39)	E273G	probably damaging	Het
Ppil1	C	A	17: 29,482,862 (GRCm39)	V14F	possibly damaging	Het
Ptprd	C	A	4: 76,018,693 (GRCm39)	D694Y	probably damaging	Het
Relt	A	T	7: 100,500,905 (GRCm39)	L28Q	probably damaging	Het
Skic8	C	A	9: 54,635,470 (GRCm39)	V44L	probably damaging	Het
Sptbn4	G	A	7: 27,056,812 (GRCm39)	R2525*	probably null	Het
St8sia5	G	A	18: 77,342,358 (GRCm39)	G320D	probably damaging	Het
Taf2	T	C	15: 54,911,670 (GRCm39)	E582G	probably damaging	Het
Tas2r116	T	A	6: 132,832,406 (GRCm39)	N2K	probably benign	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tmem168	A	T	6: 13,583,045 (GRCm39)	V612E	probably damaging	Het
Unc79	A	G	12: 102,968,130 (GRCm39)	S119G	probably damaging	Het
Washc5	T	A	15: 59,227,688 (GRCm39)	K425*	probably null	Het
Wtap	G	T	17: 13,186,782 (GRCm39)	T255K	probably benign	Het
Zfp148	T	C	16: 33,277,313 (GRCm39)	V134A	probably benign	Het
Zfp397	C	T	18: 24,093,808 (GRCm39)	S431L	probably damaging	Het

Other mutations in Nabp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Nabp2	APN	10	128,244,631 (GRCm39)	missense	probably damaging	0.98
IGL02397:Nabp2	APN	10	128,244,192 (GRCm39)	missense	possibly damaging	0.46
PIT4585001:Nabp2	UTSW	10	128,244,676 (GRCm39)	missense	possibly damaging	0.64
R1928:Nabp2	UTSW	10	128,245,182 (GRCm39)	missense	possibly damaging	0.89
R4909:Nabp2	UTSW	10	128,237,556 (GRCm39)	unclassified	probably benign
R5031:Nabp2	UTSW	10	128,245,497 (GRCm39)	unclassified	probably benign
R5724:Nabp2	UTSW	10	128,245,555 (GRCm39)	unclassified	probably benign
R9747:Nabp2	UTSW	10	128,237,610 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGTGAAGCAGGATTCGGTCTTCAG -3'
(R):5'- GGGACCACCGCTTGCATTCTTAAC -3'

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

Posted On

2015-02-04