Mutagenetix > Incidental Mutation

Incidental Mutation 'R7221:Abr'

561832

Institutional Source

Beutler Lab

Gene Symbol

Abr

Ensembl Gene

ENSMUSG00000017631

Gene Name

active BCR-related gene

Synonyms

6330400K15Rik

MMRRC Submission

045293-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.747) question?

Stock #

R7221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76307560-76468515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 76313987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 720 (M720R)

Ref Sequence

ENSEMBL: ENSMUSP00000091551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065028] [ENSMUST00000072740] [ENSMUST00000094012] [ENSMUST00000108407] [ENSMUST00000108408]

AlphaFold

Q5SSL4

Predicted Effect

probably benign
Transcript: ENSMUST00000065028
AA Change: M490R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068982
Gene: ENSMUSG00000017631
AA Change: M490R

Domain	Start	End	E-Value	Type
Pfam:RhoGEF	12	65	5.4e-11	PFAM
PH	84	243	1.58e-11	SMART
C2	287	394	1.88e-11	SMART
RhoGAP	440	619	6.57e-67	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072740
AA Change: M708R

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072522
Gene: ENSMUSG00000017631
AA Change: M708R

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: M720R

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000091551
Gene: ENSMUSG00000017631
AA Change: M720R

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

possibly damaging
Transcript: ENSMUST00000108407
AA Change: M662R

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104044
Gene: ENSMUSG00000017631
AA Change: M662R

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: M671R

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

SMART Domains

Protein: ENSMUSP00000104045
Gene: ENSMUSG00000017631
AA Change: M671R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (77/77)

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
Aadacl2fm1	A	G	3: 59,836,354 (GRCm39)		probably benign	Het
Acad10	G	A	5: 121,768,273 (GRCm39)	T761M	probably damaging	Het
Agxt	G	T	1: 93,065,623 (GRCm39)	G164V	possibly damaging	Het
Ankar	C	T	1: 72,689,390 (GRCm39)	G1247D	probably damaging	Het
Bptf	A	C	11: 106,945,658 (GRCm39)	L2527R	probably damaging	Het
Brinp2	T	C	1: 158,094,117 (GRCm39)	H195R	possibly damaging	Het
Cacna2d4	G	T	6: 119,213,624 (GRCm39)	R14S	probably benign	Het
Cep126	A	T	9: 8,100,988 (GRCm39)	C515*	probably null	Het
Chia1	A	T	3: 106,039,236 (GRCm39)	N442I	probably damaging	Het
Clasp2	A	G	9: 113,681,825 (GRCm39)	D327G	probably damaging	Het
Cnbd2	T	C	2: 156,215,581 (GRCm39)	F519L	probably benign	Het
Cntrl	T	A	2: 35,041,869 (GRCm39)	F1214I	possibly damaging	Het
Cul9	A	T	17: 46,839,491 (GRCm39)	M829K	probably damaging	Het
Cyp4b1	T	C	4: 115,493,175 (GRCm39)	Q223R	possibly damaging	Het
Defb37	A	T	8: 19,040,988 (GRCm39)	M1K	probably null	Het
Dnah7c	A	T	1: 46,494,937 (GRCm39)	Q55L	possibly damaging	Het
Efcab3	A	G	11: 104,791,432 (GRCm39)	N2882S	probably benign	Het
Eif2b4	A	T	5: 31,345,131 (GRCm39)	D463E	possibly damaging	Het
Elapor1	T	G	3: 108,382,317 (GRCm39)	D232A	possibly damaging	Het
Elovl1	C	T	4: 118,288,811 (GRCm39)	H167Y	probably damaging	Het
Emb	T	A	13: 117,404,013 (GRCm39)	L255Q	probably damaging	Het
Eogt	T	C	6: 97,089,685 (GRCm39)	Y465C	probably damaging	Het
Erc2	A	G	14: 27,375,115 (GRCm39)	H111R	probably damaging	Het
Fam234b	T	C	6: 135,205,529 (GRCm39)	F498S	probably damaging	Het
Fgfr3	GAGGCTGGCAGCGTGTACGCAGGC	GAGGC	5: 33,890,092 (GRCm39)		probably null	Het
Flrt3	T	A	2: 140,503,090 (GRCm39)	E179D	probably damaging	Het
Fndc3a	T	C	14: 72,793,597 (GRCm39)	R993G	probably benign	Het
Gm14325	T	C	2: 177,476,403 (GRCm39)	T14A	probably damaging	Het
Gm5464	T	A	14: 67,106,681 (GRCm39)	V106D	unknown	Het
Gpatch11	T	A	17: 79,149,546 (GRCm39)	I182N	possibly damaging	Het
Grm6	A	G	11: 50,753,870 (GRCm39)	R725G	probably damaging	Het
Hap1	A	T	11: 100,239,655 (GRCm39)	M588K	probably benign	Het
Icam2	A	G	11: 106,273,268 (GRCm39)	F15L	probably benign	Het
Ints8	A	G	4: 11,225,613 (GRCm39)	M648T	probably benign	Het
Ipo11	A	T	13: 107,029,065 (GRCm39)	L296Q	probably damaging	Het
Kirrel1	G	A	3: 86,993,704 (GRCm39)	Q518*	probably null	Het
Krt18	G	T	15: 101,937,967 (GRCm39)	D155Y	possibly damaging	Het
Lctl	A	T	9: 64,026,217 (GRCm39)	K91*	probably null	Het
Marf1	C	A	16: 13,960,349 (GRCm39)	R565L	probably damaging	Het
Med13	A	T	11: 86,178,921 (GRCm39)	D1458E	probably benign	Het
Mroh8	T	A	2: 157,071,837 (GRCm39)	Y556F	probably benign	Het
Muc16	C	T	9: 18,553,495 (GRCm39)	G4266D	probably benign	Het
Nsrp1	A	T	11: 76,939,249 (GRCm39)	F182I	probably damaging	Het
Obox3	A	T	7: 15,359,983 (GRCm39)	Y229N	probably benign	Het
Or11h7	A	T	14: 50,891,528 (GRCm39)	Y278F	probably damaging	Het
Or2b2	T	C	13: 21,887,272 (GRCm39)	S34P	probably damaging	Het
Or2b4	A	G	17: 38,116,452 (GRCm39)	K139E	probably benign	Het
Or4a74	T	C	2: 89,440,272 (GRCm39)	Y58C	probably damaging	Het
Or4c108	A	G	2: 88,803,497 (GRCm39)	V246A	probably damaging	Het
Or4p22	T	A	2: 88,317,973 (GRCm39)	V299D	probably damaging	Het
Or8d1	A	G	9: 38,766,538 (GRCm39)	Y60C	probably damaging	Het
Pabpc2	T	A	18: 39,906,963 (GRCm39)	V76D	possibly damaging	Het
Parp9	T	C	16: 35,774,071 (GRCm39)	W348R	probably benign	Het
Pdp1	T	C	4: 11,961,004 (GRCm39)	T455A	probably damaging	Het
Phactr2	A	C	10: 13,122,783 (GRCm39)	D446E	possibly damaging	Het
Pi4kb	T	C	3: 94,901,500 (GRCm39)	L389P	probably damaging	Het
Pla2g4f	C	T	2: 120,131,476 (GRCm39)	R749H	probably benign	Het
Plec	A	G	15: 76,059,974 (GRCm39)	V3321A	probably damaging	Het
Plod2	T	C	9: 92,466,580 (GRCm39)	V180A	probably damaging	Het
Plppr5	A	G	3: 117,414,618 (GRCm39)	I80V	probably damaging	Het
Potefam3d	T	G	8: 69,975,316 (GRCm39)	D50A	probably benign	Het
Rubcn	T	C	16: 32,687,293 (GRCm39)		probably null	Het
Sacs	T	C	14: 61,446,255 (GRCm39)	V2767A	probably damaging	Het
Selenbp2	C	G	3: 94,611,133 (GRCm39)	Y414*	probably null	Het
Slc45a4	A	T	15: 73,458,259 (GRCm39)	M430K	probably benign	Het
Smg1	A	G	7: 117,782,020 (GRCm39)	L1145P	possibly damaging	Het
Spns2	A	G	11: 72,347,742 (GRCm39)	V316A	probably benign	Het
Srl	T	A	16: 4,300,811 (GRCm39)	E753D	probably damaging	Het
Thada	T	C	17: 84,771,794 (GRCm39)	T23A	possibly damaging	Het
Tmem231	T	C	8: 112,660,308 (GRCm39)	T31A	probably benign	Het
Tpr	C	T	1: 150,321,929 (GRCm39)	T2321M	possibly damaging	Het
Ttn	T	A	2: 76,772,195 (GRCm39)	N2615I	unknown	Het
Vmn1r41	A	G	6: 89,724,034 (GRCm39)	I192V	probably benign	Het
Vmn2r83	A	T	10: 79,316,001 (GRCm39)	T466S	probably benign	Het
Vnn1	A	G	10: 23,770,952 (GRCm39)	D60G	probably benign	Het
Wiz	G	A	17: 32,578,139 (GRCm39)	P449S	probably benign	Het
Zic1	A	G	9: 91,246,785 (GRCm39)	S96P	probably damaging	Het
Zw10	T	A	9: 48,981,012 (GRCm39)	S471T	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
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
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
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'- AAGACTGCTCTGGACAAGCC -3'
(R):5'- ACCATGTATACCCTACCTTCCTAAG -3'

Sequencing Primer
(F):5'- TGCTCTGGACAAGCCACTGG -3'
(R):5'- CTTCCTAAGGGGAGGCAGTAAAG -3'

Posted On

2019-06-26