Mutagenetix > Incidental Mutation

Incidental Mutation 'R0344:Abr'

26452

Institutional Source

Beutler Lab

Gene Symbol

Abr

Ensembl Gene

ENSMUSG00000017631

Gene Name

active BCR-related gene

Synonyms

6330400K15Rik

MMRRC Submission

038551-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R0344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76307560-76468515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76369870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 115 (V115E)

Ref Sequence

ENSEMBL: ENSMUSP00000135515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072740] [ENSMUST00000094012] [ENSMUST00000108407] [ENSMUST00000108408] [ENSMUST00000151526] [ENSMUST00000155035] [ENSMUST00000176179] [ENSMUST00000176024]

AlphaFold

Q5SSL4

Predicted Effect

probably damaging
Transcript: ENSMUST00000072740
AA Change: V161E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072522
Gene: ENSMUSG00000017631
AA Change: V161E

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 damaging
Transcript: ENSMUST00000094012
AA Change: V173E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091551
Gene: ENSMUSG00000017631
AA Change: V173E

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 damaging
Transcript: ENSMUST00000108407
AA Change: V115E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104044
Gene: ENSMUSG00000017631
AA Change: V115E

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 damaging
Transcript: ENSMUST00000108408
AA Change: V124E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104045
Gene: ENSMUSG00000017631
AA Change: V124E

Domain	Start	End	E-Value	Type
low complexity region	11	28	N/A	INTRINSIC
RhoGEF	58	246	2.37e-56	SMART
PH	265	424	1.58e-11	SMART
C2	468	575	1.88e-11	SMART
RhoGAP	621	800	6.57e-67	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141442

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151526
AA Change: V71E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135544
Gene: ENSMUSG00000017631
AA Change: V71E

Domain	Start	End	E-Value	Type
RhoGEF	5	161	3.85e-24	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 damaging
Transcript: ENSMUST00000176179
AA Change: V115E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135515
Gene: ENSMUSG00000017631
AA Change: V115E

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

Meta Mutation Damage Score

0.7843

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.3%
20x: 93.6%

Validation Efficiency

99% (81/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553J12Rik	T	A	16: 88,617,189 (GRCm39)	C29*	probably null	Het
Abca4	G	A	3: 121,877,613 (GRCm39)	C324Y	probably damaging	Het
Ablim2	T	G	5: 35,994,277 (GRCm39)		probably benign	Het
Adgrl2	C	T	3: 148,571,231 (GRCm39)		probably null	Het
Aff3	A	T	1: 38,243,013 (GRCm39)	S936T	probably benign	Het
Agap3	T	C	5: 24,656,200 (GRCm39)		probably benign	Het
Ahrr	T	A	13: 74,362,705 (GRCm39)	S393C	probably damaging	Het
Amfr	T	C	8: 94,713,998 (GRCm39)		probably null	Het
Ankrd26	C	A	6: 118,484,598 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,668 (GRCm39)	V886I	probably benign	Het
Atp5f1a	C	A	18: 77,867,895 (GRCm39)	N356K	probably damaging	Het
AU021092	A	T	16: 5,040,031 (GRCm39)	M31K	possibly damaging	Het
Bicral	A	G	17: 47,124,978 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C3ar1	T	C	6: 122,827,731 (GRCm39)	D162G	probably benign	Het
Camkk2	C	T	5: 122,901,940 (GRCm39)	C123Y	probably benign	Het
Casp8ap2	A	T	4: 32,644,079 (GRCm39)	I1051F	probably damaging	Het
Catsperg1	A	T	7: 28,894,965 (GRCm39)	V544E	probably damaging	Het
Cdc27	G	A	11: 104,417,817 (GRCm39)		probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Dennd6b	T	C	15: 89,080,432 (GRCm39)	Q56R	probably benign	Het
Dmac2l	T	C	12: 69,787,663 (GRCm39)		probably benign	Het
Fbxl17	G	A	17: 63,692,062 (GRCm39)		probably benign	Het
Fubp1	T	C	3: 151,925,350 (GRCm39)	V164A	probably damaging	Het
Gdap2	G	A	3: 100,085,572 (GRCm39)	G165S	probably damaging	Het
Gns	A	G	10: 121,219,328 (GRCm39)	K352E	probably benign	Het
Gtf2ird2	C	T	5: 134,220,088 (GRCm39)	T22M	probably damaging	Het
Herc3	A	G	6: 58,845,613 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Inpp1	A	T	1: 52,838,513 (GRCm39)	F45L	probably damaging	Het
Ipo4	T	C	14: 55,863,399 (GRCm39)	Q1073R	possibly damaging	Het
Itgae	A	G	11: 73,008,973 (GRCm39)	K485E	probably benign	Het
Jak2	G	A	19: 29,261,029 (GRCm39)	V342I	probably damaging	Het
Kptn	C	A	7: 15,859,666 (GRCm39)	Q297K	probably damaging	Het
Lims2	A	G	18: 32,077,573 (GRCm39)	E103G	probably benign	Het
Mthfr	C	G	4: 148,139,885 (GRCm39)	S618W	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nup133	A	G	8: 124,644,185 (GRCm39)	V727A	possibly damaging	Het
Oas2	T	G	5: 120,881,152 (GRCm39)	E313A	probably damaging	Het
Or10d4c	G	A	9: 39,558,646 (GRCm39)	C208Y	probably damaging	Het
Or52b2	C	A	7: 104,986,814 (GRCm39)	M36I	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5m8	T	A	2: 85,822,726 (GRCm39)	C188*	probably null	Het
Or5p63	A	T	7: 107,810,949 (GRCm39)	Y262*	probably null	Het
Park7	A	G	4: 150,992,806 (GRCm39)	V20A	possibly damaging	Het
Pgap4	T	C	4: 49,586,566 (GRCm39)	T201A	probably benign	Het
Phldb1	C	A	9: 44,612,964 (GRCm39)	V919L	probably benign	Het
Pkhd1l1	C	A	15: 44,460,407 (GRCm39)	H4205Q	probably benign	Het
Plekhg3	G	T	12: 76,613,040 (GRCm39)	E449*	probably null	Het
Pramel26	A	T	4: 143,537,338 (GRCm39)	I331N	probably damaging	Het
Pstpip1	T	C	9: 56,033,929 (GRCm39)	V301A	probably benign	Het
Ptdss1	G	A	13: 67,081,636 (GRCm39)	R22H	probably damaging	Het
Ptprq	A	G	10: 107,541,443 (GRCm39)	V361A	probably benign	Het
Ralgapa2	A	T	2: 146,188,714 (GRCm39)	V1309E	possibly damaging	Het
Rere	T	C	4: 150,695,438 (GRCm39)		probably benign	Het
Sbk3	T	A	7: 4,970,404 (GRCm39)	T322S	possibly damaging	Het
Scn9a	T	A	2: 66,335,354 (GRCm39)	I1203L	probably damaging	Het
Setdb1	A	T	3: 95,233,442 (GRCm39)		probably benign	Het
Sik3	C	A	9: 46,120,109 (GRCm39)	Q683K	probably damaging	Het
Slc24a5	A	G	2: 124,927,621 (GRCm39)	I307V	probably benign	Het
Smg6	A	G	11: 74,820,647 (GRCm39)	D306G	probably damaging	Het
Snx13	G	A	12: 35,136,899 (GRCm39)	W120*	probably null	Het
Snx5	A	G	2: 144,099,128 (GRCm39)		probably benign	Het
Srsf5	T	C	12: 80,994,298 (GRCm39)	S76P	probably benign	Het
Stard6	A	G	18: 70,629,186 (GRCm39)	D31G	probably damaging	Het
Taf3	A	G	2: 9,956,709 (GRCm39)	M333T	probably benign	Het
Taf6	T	G	5: 138,179,409 (GRCm39)	I377L	probably benign	Het
Taf8	G	T	17: 47,804,505 (GRCm39)	N252K	probably benign	Het
Tfap2c	A	G	2: 172,393,423 (GRCm39)	T113A	probably benign	Het
Tmtc4	C	T	14: 123,215,572 (GRCm39)	V25M	probably damaging	Het
Topbp1	T	A	9: 103,205,886 (GRCm39)	D841E	probably damaging	Het
Topbp1	T	A	9: 103,185,932 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,542,833 (GRCm39)	D33384E	probably damaging	Het
Unc13c	T	C	9: 73,838,067 (GRCm39)	E928G	probably benign	Het
Vav1	T	C	17: 57,603,090 (GRCm39)	F81L	probably damaging	Het
Vmn2r63	A	G	7: 42,553,042 (GRCm39)	I738T	probably damaging	Het
Vmn2r87	C	T	10: 130,315,806 (GRCm39)	E87K	probably damaging	Het
Zfp229	A	T	17: 21,964,822 (GRCm39)	M351L	probably benign	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
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
R4632:Abr	UTSW	11	76,399,845 (GRCm39)	missense	probably benign	0.10
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'- TGCTCAAAGGACTCCCATGCAGAC -3'
(R):5'- ACGAACGCTCTGGTTCATTCATCAC -3'

Sequencing Primer
(F):5'- ACTTTCAAGGCTCCACTAGGATG -3'
(R):5'- GGTTCATTCATCACCACCTTTG -3'

Posted On

2013-04-16