Mutagenetix > Incidental Mutation

Incidental Mutation 'R9375:Nab2'

709567

Institutional Source

Beutler Lab

Gene Symbol

Nab2

Ensembl Gene

ENSMUSG00000025402

Gene Name

Ngfi-A binding protein 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9375 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127496787-127502572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127500580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 171 (S171P)

Ref Sequence

ENSEMBL: ENSMUSP00000026469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026469] [ENSMUST00000092074] [ENSMUST00000099157] [ENSMUST00000118728] [ENSMUST00000128780] [ENSMUST00000129252]

AlphaFold

Q61127

Predicted Effect

probably damaging
Transcript: ENSMUST00000026469
AA Change: S171P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026469
Gene: ENSMUSG00000025402
AA Change: S171P

Domain	Start	End	E-Value	Type
Pfam:NCD1	36	114	1.2e-44	PFAM
Pfam:NCD2	230	364	3.2e-59	PFAM
low complexity region	393	406	N/A	INTRINSIC
low complexity region	431	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092074

SMART Domains

Protein: ENSMUSP00000089708
Gene: ENSMUSG00000002147

Domain	Start	End	E-Value	Type
STAT_int	2	116	2.76e-31	SMART
Pfam:STAT_bind	273	526	4.4e-87	PFAM
SH2	540	622	1.33e-5	SMART
Pfam:STAT6_C	655	837	1.1e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099157
AA Change: S171P

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096761
Gene: ENSMUSG00000025402
AA Change: S171P

Domain	Start	End	E-Value	Type
Pfam:NCD1	34	115	4.4e-51	PFAM
Pfam:NCD2	199	366	3.6e-74	PFAM
low complexity region	393	406	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118728

SMART Domains

Protein: ENSMUSP00000113473
Gene: ENSMUSG00000040195

Domain	Start	End	E-Value	Type
Pfam:DUF2215	100	348	7.2e-105	PFAM
low complexity region	367	377	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128780

SMART Domains

Protein: ENSMUSP00000121737
Gene: ENSMUSG00000025402

Domain	Start	End	E-Value	Type
Pfam:NCD1	1	66	3.4e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129252

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile with normal myelination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,332,567 (GRCm39)	D549G	probably benign	Het
Aamdc	A	G	7: 97,199,902 (GRCm39)	V120A	probably benign	Het
Acp2	A	T	2: 91,037,174 (GRCm39)	Q251L	probably benign	Het
AI597479	C	T	1: 43,150,505 (GRCm39)	A205V	possibly damaging	Het
Apob	A	G	12: 8,029,261 (GRCm39)	T44A	possibly damaging	Het
Arhgap18	G	A	10: 26,648,610 (GRCm39)	V11M	probably damaging	Het
Arhgef10l	T	G	4: 140,319,265 (GRCm39)	H156P	probably benign	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Ccn2	A	T	10: 24,473,501 (GRCm39)	M347L	possibly damaging	Het
Chd9	G	A	8: 91,725,335 (GRCm39)		probably null	Het
Clec4n	T	A	6: 123,207,662 (GRCm39)	F42L	probably benign	Het
Cngb1	T	C	8: 96,026,350 (GRCm39)	K144E	unknown	Het
Cyp4f17	A	G	17: 32,747,746 (GRCm39)	T485A	probably damaging	Het
Dcaf6	T	A	1: 165,185,052 (GRCm39)	Y480F	probably damaging	Het
Defa30	C	T	8: 21,624,686 (GRCm39)	T3I	probably damaging	Het
Dmxl1	T	A	18: 50,091,477 (GRCm39)	W2854R	probably damaging	Het
Dnah11	G	A	12: 117,884,703 (GRCm39)	T3783I	possibly damaging	Het
Dync1i1	T	A	6: 5,913,443 (GRCm39)	F225L	possibly damaging	Het
Elp6	T	A	9: 110,144,852 (GRCm39)	Y119*	probably null	Het
Enpep	A	T	3: 129,125,529 (GRCm39)	M201K	probably benign	Het
Fam161a	A	T	11: 22,970,661 (GRCm39)	R280W	probably damaging	Het
Fam98a	T	C	17: 75,848,330 (GRCm39)	N128S	possibly damaging	Het
Fpgt	A	T	3: 154,792,934 (GRCm39)	D364E	probably benign	Het
G3bp1	T	A	11: 55,390,439 (GRCm39)	M448K	probably damaging	Het
Gadd45b	T	C	10: 80,766,284 (GRCm39)	M16T	probably benign	Het
Gdi2	A	T	13: 3,614,869 (GRCm39)	I383F	probably benign	Het
H2-T13	T	C	17: 36,391,993 (GRCm39)	T27A	possibly damaging	Het
Igtp	T	G	11: 58,097,026 (GRCm39)	L66V	probably damaging	Het
Kcne4	G	A	1: 78,795,623 (GRCm39)	M90I	probably benign	Het
Lmo7	T	A	14: 102,136,123 (GRCm39)	M732K	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mast4	T	G	13: 102,917,753 (GRCm39)	S552R	probably damaging	Het
Meak7	G	A	8: 120,498,096 (GRCm39)	A136V	probably benign	Het
Mff	A	T	1: 82,707,007 (GRCm39)	M11L	probably benign	Het
Mterf2	T	C	10: 84,956,327 (GRCm39)	E99G	probably damaging	Het
Myef2l	T	C	3: 10,153,791 (GRCm39)	S187P	probably benign	Het
Myom2	T	A	8: 15,149,210 (GRCm39)	N560K	probably damaging	Het
Nhlrc3	T	C	3: 53,369,190 (GRCm39)	N83S	possibly damaging	Het
Nod2	A	T	8: 89,391,033 (GRCm39)	I447F	probably damaging	Het
Npat	T	A	9: 53,474,456 (GRCm39)	D749E	possibly damaging	Het
Nxph4	A	G	10: 127,362,631 (GRCm39)	S87P	probably benign	Het
Or2y1f	T	A	11: 49,184,902 (GRCm39)	Y251*	probably null	Het
Or51i2	G	T	7: 103,689,273 (GRCm39)	R90L	possibly damaging	Het
Or5d47	G	A	2: 87,804,526 (GRCm39)	T161M	possibly damaging	Het
Or6c6	T	A	10: 129,186,989 (GRCm39)	S186T	probably damaging	Het
Or9q2	T	A	19: 13,772,214 (GRCm39)	T254S	probably damaging	Het
Pcdha3	G	A	18: 37,079,353 (GRCm39)	V32I	probably benign	Het
Pcdhgc3	A	T	18: 37,939,691 (GRCm39)	T31S	probably benign	Het
Phldb3	A	G	7: 24,323,297 (GRCm39)	R391G	probably damaging	Het
Piezo1	A	G	8: 123,228,604 (GRCm39)	V257A		Het
Pip5k1b	T	A	19: 24,416,442 (GRCm39)	Q15L	probably benign	Het
Plxnc1	T	C	10: 94,649,093 (GRCm39)	N1229D	probably benign	Het
Ptpn12	A	G	5: 21,224,212 (GRCm39)	V127A	probably benign	Het
Ptprr	T	A	10: 116,109,724 (GRCm39)	V655D	probably benign	Het
Rbbp8	A	G	18: 11,838,888 (GRCm39)	T190A	probably benign	Het
Rnf17	T	A	14: 56,719,579 (GRCm39)	V943E	probably damaging	Het
Rnpc3	C	T	3: 113,404,913 (GRCm39)	G414D	probably damaging	Het
Robo4	T	A	9: 37,316,158 (GRCm39)	N387K	probably damaging	Het
Sall4	G	A	2: 168,597,781 (GRCm39)	T353M	probably damaging	Het
Serpinb13	T	C	1: 106,909,997 (GRCm39)	I38T	probably damaging	Het
Sgsm1	A	T	5: 113,422,139 (GRCm39)	I218N	unknown	Het
Sntg2	T	A	12: 30,293,343 (GRCm39)		probably null	Het
Taf1c	G	A	8: 120,325,393 (GRCm39)	S823F	probably damaging	Het
Timd6	T	A	11: 46,468,246 (GRCm39)	C107S	probably damaging	Het
Trhde	T	G	10: 114,244,598 (GRCm39)	I963L	probably damaging	Het
Trim43b	T	C	9: 88,967,619 (GRCm39)	Y339C	probably damaging	Het
Trp53	T	A	11: 69,480,537 (GRCm39)		probably null	Het
Tubg2	T	C	11: 101,051,621 (GRCm39)	V282A	probably benign	Het
Ube2g1	C	T	11: 72,553,943 (GRCm39)		probably benign	Het
Usp34	C	A	11: 23,437,203 (GRCm39)	A3341E		Het
Vmn2r12	T	A	5: 109,233,986 (GRCm39)	H742L	probably damaging	Het
Vmn2r24	T	C	6: 123,792,542 (GRCm39)	V623A	probably damaging	Het
Vmn2r5	A	T	3: 64,411,316 (GRCm39)	D417E	probably damaging	Het
Vmn2r-ps158	C	T	7: 42,673,499 (GRCm39)	P193S	possibly damaging	Het
Xirp2	A	T	2: 67,342,118 (GRCm39)	D1453V	probably damaging	Het
Zfp2	T	C	11: 50,791,042 (GRCm39)	S334G	probably damaging	Het

Other mutations in Nab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Nab2	APN	10	127,500,978 (GRCm39)	missense	probably damaging	1.00
IGL01415:Nab2	APN	10	127,500,972 (GRCm39)	missense	probably damaging	1.00
IGL02248:Nab2	APN	10	127,499,109 (GRCm39)	missense	probably benign	0.31
IGL03080:Nab2	APN	10	127,500,663 (GRCm39)	missense	possibly damaging	0.56
IGL03084:Nab2	APN	10	127,500,346 (GRCm39)	missense	probably damaging	1.00
katie	UTSW	10	127,500,207 (GRCm39)	missense	probably damaging	1.00
schneider	UTSW	10	127,502,417 (GRCm39)	intron	probably benign
R0381:Nab2	UTSW	10	127,500,936 (GRCm39)	missense	probably damaging	1.00
R1074:Nab2	UTSW	10	127,499,124 (GRCm39)	nonsense	probably null
R1535:Nab2	UTSW	10	127,500,916 (GRCm39)	missense	probably damaging	0.99
R4214:Nab2	UTSW	10	127,500,917 (GRCm39)	nonsense	probably null
R4742:Nab2	UTSW	10	127,498,696 (GRCm39)	missense	probably benign	0.02
R5590:Nab2	UTSW	10	127,500,526 (GRCm39)	missense	probably damaging	0.98
R5603:Nab2	UTSW	10	127,500,990 (GRCm39)	start codon destroyed	probably null	0.96
R5776:Nab2	UTSW	10	127,500,198 (GRCm39)	missense	probably damaging	0.99
R6018:Nab2	UTSW	10	127,500,793 (GRCm39)	nonsense	probably null
R6381:Nab2	UTSW	10	127,500,220 (GRCm39)	missense	probably damaging	1.00
R6610:Nab2	UTSW	10	127,500,207 (GRCm39)	missense	probably damaging	1.00
R7025:Nab2	UTSW	10	127,502,377 (GRCm39)	intron	probably benign
R8220:Nab2	UTSW	10	127,498,645 (GRCm39)	missense	probably benign	0.03
R8221:Nab2	UTSW	10	127,498,645 (GRCm39)	missense	probably benign	0.03
R8222:Nab2	UTSW	10	127,498,645 (GRCm39)	missense	probably benign	0.03
R8223:Nab2	UTSW	10	127,498,645 (GRCm39)	missense	probably benign	0.03
R8277:Nab2	UTSW	10	127,501,168 (GRCm39)	intron	probably benign
R8293:Nab2	UTSW	10	127,502,266 (GRCm39)	missense	possibly damaging	0.86
R8766:Nab2	UTSW	10	127,502,417 (GRCm39)	intron	probably benign
RF005:Nab2	UTSW	10	127,500,233 (GRCm39)	missense	probably benign	0.04
RF024:Nab2	UTSW	10	127,500,233 (GRCm39)	missense	probably benign	0.04
Z1176:Nab2	UTSW	10	127,499,001 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAAACTCCGGAAGATCCTCTCC -3'
(R):5'- ACCAATCCAGGGCTCTTCAG -3'

Sequencing Primer
(F):5'- ATCTCTGGTTCCAGGCGGTC -3'
(R):5'- TTCAGCCAACCAGTGCCTG -3'

Posted On

2022-04-18