Mutagenetix > Incidental Mutation

Incidental Mutation 'R4632:Abr'

349295

Institutional Source

Beutler Lab

Gene Symbol

Abr

Ensembl Gene

ENSMUSG00000017631

Gene Name

active BCR-related gene

Synonyms

6330400K15Rik

MMRRC Submission

041897-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.747) question?

Stock #

R4632 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

76307560-76468515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76399845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 39 (G39R)

Ref Sequence

ENSEMBL: ENSMUSP00000072522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072740] [ENSMUST00000094012] [ENSMUST00000108407] [ENSMUST00000155035] [ENSMUST00000176024] [ENSMUST00000176179]

AlphaFold

Q5SSL4

Predicted Effect

probably benign
Transcript: ENSMUST00000072740
AA Change: G39R

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000072522
Gene: ENSMUSG00000017631
AA Change: G39R

Domain	Start	End	E-Value	Type
RhoGEF	95	283	2.37e-56	SMART
PH	302	461	1.58e-11	SMART
C2	505	612	1.88e-11	SMART
RhoGAP	658	837	6.57e-67	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000094012
AA Change: G51R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000091551
Gene: ENSMUSG00000017631
AA Change: G51R

Domain	Start	End	E-Value	Type
RhoGEF	107	295	2.37e-56	SMART
PH	314	473	1.58e-11	SMART
C2	517	624	1.88e-11	SMART
RhoGAP	670	849	6.57e-67	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108407

SMART Domains

Protein: ENSMUSP00000104044
Gene: ENSMUSG00000017631

Domain	Start	End	E-Value	Type
RhoGEF	49	237	2.37e-56	SMART
PH	256	415	1.58e-11	SMART
C2	459	566	1.88e-11	SMART
RhoGAP	612	791	6.57e-67	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155035

SMART Domains

Protein: ENSMUSP00000122614
Gene: ENSMUSG00000017631

Domain	Start	End	E-Value	Type
Pfam:RhoGEF	49	110	1.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176024

SMART Domains

Protein: ENSMUSP00000135691
Gene: ENSMUSG00000017631

Domain	Start	End	E-Value	Type
SCOP:d1kz7a1	41	92	1e-5	SMART
Blast:RhoGEF	49	92	5e-22	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000176179

SMART Domains

Protein: ENSMUSP00000135515
Gene: ENSMUSG00000017631

Domain	Start	End	E-Value	Type
Pfam:RhoGEF	49	128	1.1e-12	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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 is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects. [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
Abcg1	T	C	17: 31,283,447 (GRCm39)	V44A	probably benign	Het
Adora2b	TGGACCACTCCAGGACCACTC	TGGACCACTC	11: 62,156,208 (GRCm39)		probably null	Het
Agbl1	A	G	7: 76,063,433 (GRCm39)	T47A	probably benign	Het
Akap13	G	T	7: 75,316,301 (GRCm39)	A1389S	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankar	T	A	1: 72,686,343 (GRCm39)	T1286S	probably benign	Het
Ankrd13c	A	G	3: 157,667,939 (GRCm39)	H166R	probably damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Arl16	A	G	11: 120,356,610 (GRCm39)	S130P	probably damaging	Het
Atp10a	A	T	7: 58,457,186 (GRCm39)	Q895L	possibly damaging	Het
Atp13a5	T	A	16: 29,167,537 (GRCm39)	R138W	probably damaging	Het
Auts2	G	A	5: 131,501,113 (GRCm39)	T309M	probably damaging	Het
C6	A	T	15: 4,789,350 (GRCm39)	K265I	probably benign	Het
Casz1	A	G	4: 149,036,312 (GRCm39)	T1525A	possibly damaging	Het
Cd200l1	T	G	16: 45,238,271 (GRCm39)	H181P	probably benign	Het
Chpf2	A	G	5: 24,796,829 (GRCm39)	T592A	probably benign	Het
Cilp	A	T	9: 65,187,162 (GRCm39)	T1086S	probably benign	Het
Cmip	A	G	8: 118,174,150 (GRCm39)	Y410C	possibly damaging	Het
Csmd3	A	G	15: 47,874,605 (GRCm39)	C560R	probably damaging	Het
Dchs1	T	A	7: 105,403,562 (GRCm39)	E2993D	probably benign	Het
Dnah7a	A	G	1: 53,467,110 (GRCm39)	F3585L	probably damaging	Het
Dspp	A	G	5: 104,325,272 (GRCm39)	D545G	unknown	Het
Dusp7	T	A	9: 106,247,965 (GRCm39)	S198T	possibly damaging	Het
Ell2	A	T	13: 75,917,693 (GRCm39)	Q541L	possibly damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Galntl6	T	A	8: 58,880,857 (GRCm39)	I99F	probably damaging	Het
Gnat3	G	A	5: 18,220,364 (GRCm39)		probably null	Het
Hykk	T	C	9: 54,853,800 (GRCm39)	I374T	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnt2	A	G	1: 140,450,886 (GRCm39)	I722V	possibly damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Krt13	A	G	11: 100,012,050 (GRCm39)	L91P	possibly damaging	Het
Krtap4-13	A	C	11: 99,700,354 (GRCm39)	S102A	unknown	Het
Lrp2	A	G	2: 69,319,473 (GRCm39)		probably null	Het
Lrriq1	C	T	10: 103,057,288 (GRCm39)	V171I	probably damaging	Het
Map3k4	C	G	17: 12,451,391 (GRCm39)	E1501Q	probably damaging	Het
Mapk11	C	T	15: 89,030,579 (GRCm39)	V105M	probably damaging	Het
Mlph	G	A	1: 90,867,108 (GRCm39)	A377T	probably damaging	Het
Myo9a	G	A	9: 59,776,947 (GRCm39)	C1115Y	probably benign	Het
Nabp1	A	T	1: 51,513,761 (GRCm39)	Y78*	probably null	Het
Nos2	T	C	11: 78,848,417 (GRCm39)	F1108S	possibly damaging	Het
Oas2	T	C	5: 120,871,546 (GRCm39)	K699R	probably benign	Het
Olfm5	T	C	7: 103,810,100 (GRCm39)	D87G	probably benign	Het
Oog3	A	G	4: 143,884,698 (GRCm39)	F413L	probably benign	Het
Or2c1	C	T	16: 3,656,951 (GRCm39)	T38M	probably damaging	Het
Pik3r4	A	G	9: 105,532,098 (GRCm39)	M557V	probably benign	Het
Pkhd1l1	A	G	15: 44,347,796 (GRCm39)	T224A	probably benign	Het
Pknox2	A	G	9: 36,805,709 (GRCm39)	S367P	probably benign	Het
Ppfia2	A	G	10: 106,671,905 (GRCm39)		probably null	Het
Ppm1e	G	A	11: 87,122,356 (GRCm39)	P534S	probably damaging	Het
Prepl	T	C	17: 85,390,659 (GRCm39)	T100A	probably benign	Het
Ptpn13	A	G	5: 103,717,726 (GRCm39)	N1924S	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Samd12	T	A	15: 53,583,067 (GRCm39)	H89L	possibly damaging	Het
Sephs1	T	A	2: 4,901,571 (GRCm39)	V211E	probably benign	Het
Setx	C	T	2: 29,038,627 (GRCm39)	T1704I	probably benign	Het
Sltm	T	C	9: 70,486,651 (GRCm39)	S439P	possibly damaging	Het
Sort1	G	T	3: 108,253,994 (GRCm39)	Q553H	probably damaging	Het
Svs5	G	T	2: 164,079,667 (GRCm39)	T80N	probably benign	Het
Tanc1	C	A	2: 59,626,179 (GRCm39)	T512K	probably damaging	Het
Tas2r139	T	A	6: 42,118,432 (GRCm39)	V188E	probably damaging	Het
Tesk2	C	T	4: 116,598,909 (GRCm39)	R6W	probably benign	Het
Tex101	G	T	7: 24,367,793 (GRCm39)	C186*	probably null	Het
Timp2	C	T	11: 118,194,598 (GRCm39)	S197N	probably benign	Het
Tmem37	A	T	1: 119,995,979 (GRCm39)	C33S	probably damaging	Het
Tmem69	T	C	4: 116,410,235 (GRCm39)	D245G	probably benign	Het
Trak1	G	A	9: 121,283,491 (GRCm39)	R419Q	probably benign	Het
Ube2j2	T	A	4: 156,039,715 (GRCm39)	I14N	probably damaging	Het
Ush2a	T	A	1: 188,128,071 (GRCm39)	N694K	possibly damaging	Het
Utp20	A	G	10: 88,614,123 (GRCm39)	V1277A	probably damaging	Het
Vmn2r100	C	T	17: 19,752,216 (GRCm39)	S753F	probably damaging	Het
Vmn2r103	T	C	17: 20,013,958 (GRCm39)	I250T	probably benign	Het
Zap70	G	T	1: 36,817,539 (GRCm39)	A261S	probably benign	Het
Zdhhc6	A	G	19: 55,302,741 (GRCm39)	W87R	probably damaging	Het
Zfp410	A	T	12: 84,372,510 (GRCm39)	D112V	probably damaging	Het
Zfp462	T	C	4: 55,012,981 (GRCm39)	F501S	probably damaging	Het

Other mutations in Abr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Abr	APN	11	76,313,915 (GRCm39)	missense	probably damaging	0.96
IGL00571:Abr	APN	11	76,359,566 (GRCm39)	missense	probably benign	0.45
IGL01774:Abr	APN	11	76,355,125 (GRCm39)	splice site	probably benign
IGL02208:Abr	APN	11	76,346,471 (GRCm39)	missense	probably damaging	1.00
IGL02477:Abr	APN	11	76,352,186 (GRCm39)	missense	probably damaging	1.00
IGL02499:Abr	APN	11	76,399,916 (GRCm39)	missense	probably benign	0.39
IGL02606:Abr	APN	11	76,369,990 (GRCm39)	missense	probably damaging	1.00
IGL02955:Abr	APN	11	76,309,991 (GRCm39)	missense	probably damaging	1.00
IGL03136:Abr	APN	11	76,316,121 (GRCm39)	nonsense	probably null
R0051:Abr	UTSW	11	76,363,328 (GRCm39)	missense	probably benign	0.02
R0311:Abr	UTSW	11	76,399,953 (GRCm39)	missense	possibly damaging	0.83
R0344:Abr	UTSW	11	76,369,870 (GRCm39)	missense	probably damaging	0.99
R0621:Abr	UTSW	11	76,399,898 (GRCm39)	missense	probably damaging	1.00
R0771:Abr	UTSW	11	76,346,509 (GRCm39)	missense	probably damaging	1.00
R1081:Abr	UTSW	11	76,346,441 (GRCm39)	missense	probably damaging	1.00
R1842:Abr	UTSW	11	76,399,812 (GRCm39)	missense	probably damaging	1.00
R2036:Abr	UTSW	11	76,343,176 (GRCm39)	missense	probably benign	0.08
R2147:Abr	UTSW	11	76,346,474 (GRCm39)	missense	probably damaging	1.00
R2250:Abr	UTSW	11	76,342,765 (GRCm39)	missense	probably damaging	1.00
R3153:Abr	UTSW	11	76,377,295 (GRCm39)	missense	probably damaging	1.00
R3928:Abr	UTSW	11	76,359,561 (GRCm39)	missense	probably benign	0.01
R4507:Abr	UTSW	11	76,342,683 (GRCm39)	missense	possibly damaging	0.65
R4518:Abr	UTSW	11	76,363,344 (GRCm39)	missense	possibly damaging	0.72
R4751:Abr	UTSW	11	76,347,434 (GRCm39)	missense	possibly damaging	0.79
R4853:Abr	UTSW	11	76,355,087 (GRCm39)	missense	probably damaging	1.00
R5255:Abr	UTSW	11	76,346,509 (GRCm39)	missense	probably damaging	1.00
R5693:Abr	UTSW	11	76,354,403 (GRCm39)	missense	probably damaging	1.00
R6459:Abr	UTSW	11	76,315,815 (GRCm39)	missense	probably damaging	0.98
R6478:Abr	UTSW	11	76,343,158 (GRCm39)	missense	probably damaging	0.99
R7030:Abr	UTSW	11	76,350,038 (GRCm39)	missense	probably damaging	1.00
R7221:Abr	UTSW	11	76,313,987 (GRCm39)	missense	probably benign	0.09
R8353:Abr	UTSW	11	76,310,659 (GRCm39)	missense	probably damaging	1.00
R8362:Abr	UTSW	11	76,369,954 (GRCm39)	missense	probably benign	0.00
R8962:Abr	UTSW	11	76,352,155 (GRCm39)	missense	probably damaging	1.00
R8967:Abr	UTSW	11	76,369,855 (GRCm39)	missense	possibly damaging	0.52
R9130:Abr	UTSW	11	76,342,753 (GRCm39)	missense	possibly damaging	0.91
R9275:Abr	UTSW	11	76,355,108 (GRCm39)	missense	probably damaging	1.00
R9492:Abr	UTSW	11	76,399,751 (GRCm39)	missense	probably benign
R9516:Abr	UTSW	11	76,310,658 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACACTGTCCTACGCAGAC -3'
(R):5'- ACATGCTATTAGGCGGGTGG -3'

Sequencing Primer
(F):5'- GGCCACTTCTTGCACATGG -3'
(R):5'- TCTGACGGACTCAGCAGAG -3'

Posted On

2015-10-08