Mutagenetix > Incidental Mutation

Incidental Mutation 'R9227:Gabpb2'

699908

Institutional Source

Beutler Lab

Gene Symbol

Gabpb2

Ensembl Gene

ENSMUSG00000038766

Gene Name

GA repeat binding protein, beta 2

Synonyms

1810015F01Rik, 9430006E19Rik, Gabpb2-1, A430024B14Rik

MMRRC Submission

068984-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9227 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95089077-95125227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95111998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 77 (M77K)

Ref Sequence

ENSEMBL: ENSMUSP00000102827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098873] [ENSMUST00000107204] [ENSMUST00000107209] [ENSMUST00000136139]

AlphaFold

P81069

Predicted Effect

probably damaging
Transcript: ENSMUST00000098873
AA Change: M77K

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

SMART Domains

Protein: ENSMUSP00000096470
Gene: ENSMUSG00000038766
AA Change: M77K

Domain	Start	End	E-Value	Type
Blast:ANK	5	34	3e-10	BLAST
ANK	37	66	3.41e-3	SMART
ANK	70	99	1.18e-6	SMART
ANK	103	132	3.76e-5	SMART
ANK	136	165	1.1e2	SMART
low complexity region	280	292	N/A	INTRINSIC
coiled coil region	310	362	N/A	INTRINSIC
low complexity region	363	389	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107204
AA Change: M77K

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102822
Gene: ENSMUSG00000038766
AA Change: M77K

Domain	Start	End	E-Value	Type
Blast:ANK	5	34	5e-11	BLAST
ANK	37	66	3.41e-3	SMART
ANK	70	99	1.18e-6	SMART
ANK	103	132	3.76e-5	SMART
ANK	136	166	1.48e3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107209
AA Change: M77K

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

SMART Domains

Protein: ENSMUSP00000102827
Gene: ENSMUSG00000038766
AA Change: M77K

Domain	Start	End	E-Value	Type
Blast:ANK	5	34	3e-10	BLAST
ANK	37	66	3.41e-3	SMART
ANK	70	99	1.18e-6	SMART
ANK	103	132	3.76e-5	SMART
ANK	136	165	1.1e2	SMART
low complexity region	280	292	N/A	INTRINSIC
coiled coil region	310	362	N/A	INTRINSIC
low complexity region	363	389	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000136139
AA Change: M77K

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

SMART Domains

Protein: ENSMUSP00000121283
Gene: ENSMUSG00000038766
AA Change: M77K

Domain	Start	End	E-Value	Type
Blast:ANK	5	34	3e-10	BLAST
ANK	37	66	3.41e-3	SMART
ANK	70	99	1.18e-6	SMART
ANK	103	132	3.76e-5	SMART
ANK	136	165	1.1e2	SMART
low complexity region	280	292	N/A	INTRINSIC
coiled coil region	310	362	N/A	INTRINSIC
low complexity region	363	389	N/A	INTRINSIC

Meta Mutation Damage Score

0.4285

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele are viable with normal T and B cell development but show increased B cell proliferation in response to B cell receptor stimulation, and moderately increased antibody production and germinal center responses when challenged with T-dependent antigens. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	T	10: 77,157,626 (GRCm39)	F274I	probably damaging	Het
Adprhl1	C	T	8: 13,271,974 (GRCm39)	V1595I	probably benign	Het
Anxa6	A	G	11: 54,898,694 (GRCm39)	V160A	probably benign	Het
Appl1	T	C	14: 26,645,692 (GRCm39)	E706G	unknown	Het
Arhgap21	T	C	2: 20,860,469 (GRCm39)	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,823,935 (GRCm39)	Y511C	probably damaging	Het
Atp1a1	A	T	3: 101,499,750 (GRCm39)	C111S	probably damaging	Het
Atp6v0d2	T	A	4: 19,878,374 (GRCm39)	M300L	probably benign	Het
C1ra	T	C	6: 124,493,739 (GRCm39)	C164R	probably damaging	Het
Cacna1h	T	C	17: 25,599,856 (GRCm39)	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,516,053 (GRCm39)	I563T	probably benign	Het
Cblif	G	A	19: 11,737,748 (GRCm39)	W386*	probably null	Het
Cd180	TA	TAA	13: 102,841,514 (GRCm39)		probably null	Het
Cd55b	A	T	1: 130,350,619 (GRCm39)	L26*	probably null	Het
Cdc42bpa	A	G	1: 179,933,638 (GRCm39)	N759S	probably benign	Het
Cenpj	C	T	14: 56,802,176 (GRCm39)	E130K	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Chd7	C	T	4: 8,805,272 (GRCm39)	S777L	probably benign	Het
Chrm3	C	A	13: 9,928,479 (GRCm39)	V186L	probably benign	Het
Clrn2	A	G	5: 45,621,283 (GRCm39)	T226A	probably damaging	Het
Col3a1	C	T	1: 45,383,138 (GRCm39)	P1071S	unknown	Het
Dytn	A	T	1: 63,686,611 (GRCm39)	V353D	probably benign	Het
Egfem1	G	A	3: 29,411,317 (GRCm39)	E155K	probably benign	Het
Eif3m	A	T	2: 104,831,705 (GRCm39)	M285K	probably damaging	Het
Fam135b	T	C	15: 71,335,856 (GRCm39)	K446R	probably benign	Het
Fam186a	T	C	15: 99,853,384 (GRCm39)	T119A	unknown	Het
Frmd4a	T	C	2: 4,612,844 (GRCm39)	S1025P	possibly damaging	Het
Fubp3	A	G	2: 31,502,564 (GRCm39)	H449R	probably benign	Het
Fyco1	A	T	9: 123,648,211 (GRCm39)	I1241N	probably damaging	Het
Gfpt1	T	A	6: 87,027,906 (GRCm39)	I4K	probably damaging	Het
Glis1	T	C	4: 107,425,327 (GRCm39)	S313P	probably benign	Het
Golga4	T	A	9: 118,385,941 (GRCm39)	M1021K	possibly damaging	Het
Grid2ip	G	A	5: 143,359,194 (GRCm39)	R270Q	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Ifit1	A	G	19: 34,625,236 (GRCm39)	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,489,752 (GRCm39)	D95G	probably benign	Het
Ilkap	A	C	1: 91,314,937 (GRCm39)	I142S	probably benign	Het
Inpp5e	C	T	2: 26,288,616 (GRCm39)	R588H	probably damaging	Het
Kif1b	A	C	4: 149,322,357 (GRCm39)	M854R	probably damaging	Het
Lcn6	A	T	2: 25,570,107 (GRCm39)	K91M	probably damaging	Het
Lpin1	A	T	12: 16,588,483 (GRCm39)	S902R	unknown	Het
Lrig1	C	A	6: 94,607,113 (GRCm39)	C160F	probably damaging	Het
Mapk13	T	C	17: 28,994,532 (GRCm39)	I141T	probably damaging	Het
Mapkapk3	A	G	9: 107,137,354 (GRCm39)	L175P	probably damaging	Het
Micall2	A	G	5: 139,701,827 (GRCm39)	V472A	unknown	Het
Mmp15	T	C	8: 96,092,959 (GRCm39)	F113L	probably benign	Het
Msh2	T	G	17: 88,026,717 (GRCm39)	S738A	probably benign	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo1f	T	C	17: 33,795,424 (GRCm39)	V53A	probably damaging	Het
Ncf1	A	T	5: 134,250,718 (GRCm39)	N367K	probably benign	Het
Nim1k	C	A	13: 120,174,118 (GRCm39)	V259F	probably damaging	Het
Nme8	T	G	13: 19,874,384 (GRCm39)	I139L	probably benign	Het
Odam	T	C	5: 88,034,457 (GRCm39)	F46L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or7a42	G	A	10: 78,791,929 (GRCm39)	D297N	possibly damaging	Het
Pcare	A	G	17: 72,057,217 (GRCm39)	L820P	probably damaging	Het
Pcdha9	A	G	18: 37,131,954 (GRCm39)	E341G	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Poglut1	A	T	16: 38,355,168 (GRCm39)	D219E	possibly damaging	Het
Racgap1	A	G	15: 99,534,078 (GRCm39)	S145P	possibly damaging	Het
Rasgef1a	C	T	6: 118,066,110 (GRCm39)	T441I	possibly damaging	Het
Rbm6	T	C	9: 107,664,498 (GRCm39)	T844A	probably benign	Het
Rbmyf9	T	G	Y: 3,774,819 (GRCm39)	D5E	probably damaging	Het
Rell1	T	C	5: 64,097,105 (GRCm39)		probably benign	Het
Ripk3	A	G	14: 56,023,303 (GRCm39)	F134S	probably benign	Het
Rnf169	T	C	7: 99,574,699 (GRCm39)	D632G	possibly damaging	Het
Sclt1	A	T	3: 41,665,631 (GRCm39)	W146R	probably benign	Het
Setd5	T	C	6: 113,098,755 (GRCm39)	F796S	possibly damaging	Het
Slc24a5	G	T	2: 124,922,568 (GRCm39)	G110V	probably damaging	Het
Slc30a10	T	A	1: 185,187,391 (GRCm39)	M44K	probably damaging	Het
Slc38a10	T	A	11: 119,996,781 (GRCm39)	D772V	probably benign	Het
Thy1	C	T	9: 43,958,004 (GRCm39)	T44I	probably damaging	Het
Tinagl1	G	T	4: 130,061,271 (GRCm39)	S324Y	probably benign	Het
Tll2	T	A	19: 41,093,436 (GRCm39)	Y477F	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmco6	T	C	18: 36,874,719 (GRCm39)	L402P	probably damaging	Het
Tnrc18	G	T	5: 142,773,392 (GRCm39)	A479D		Het
Uba7	T	C	9: 107,853,001 (GRCm39)	V12A	possibly damaging	Het
Usp5	T	C	6: 124,795,599 (GRCm39)	D598G	probably damaging	Het
Vmn1r158	C	T	7: 22,489,469 (GRCm39)	V247I	probably benign	Het
Vpreb1b	A	G	16: 17,798,801 (GRCm39)	N96D	probably damaging	Het
Zcchc17	A	T	4: 130,230,928 (GRCm39)	M87K	probably damaging	Het

Other mutations in Gabpb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Gabpb2	APN	3	95,107,502 (GRCm39)	missense	probably damaging	1.00
IGL02277:Gabpb2	APN	3	95,096,595 (GRCm39)	missense	probably benign	0.02
R1724:Gabpb2	UTSW	3	95,113,826 (GRCm39)	missense	probably damaging	1.00
R3980:Gabpb2	UTSW	3	95,096,081 (GRCm39)	missense	probably damaging	0.99
R4208:Gabpb2	UTSW	3	95,111,245 (GRCm39)	splice site	probably benign
R4656:Gabpb2	UTSW	3	95,096,252 (GRCm39)	missense	probably damaging	1.00
R4906:Gabpb2	UTSW	3	95,097,947 (GRCm39)	missense	probably benign	0.00
R7643:Gabpb2	UTSW	3	95,107,536 (GRCm39)	missense	probably benign	0.09
R7848:Gabpb2	UTSW	3	95,097,959 (GRCm39)	missense	probably damaging	0.98
R8375:Gabpb2	UTSW	3	95,112,109 (GRCm39)	missense	probably damaging	1.00
Z1176:Gabpb2	UTSW	3	95,098,004 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTCTTACAGCATAATCCGACC -3'
(R):5'- CCAGAAATGATACAGTTCTTCACATGG -3'

Sequencing Primer
(F):5'- GTGTATCCTTGGCTATCCTGGAAC -3'
(R):5'- ACAGTTCTTCACATGGTTGAAC -3'

Posted On

2022-02-07