Mutagenetix > Incidental Mutation

Incidental Mutation 'R4751:Abr'

357616

Institutional Source

Beutler Lab

Gene Symbol

Abr

Ensembl Gene

ENSMUSG00000017631

Gene Name

active BCR-related gene

Synonyms

6330400K15Rik

MMRRC Submission

041970-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R4751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76307560-76468515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76347434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 396 (N396D)

Ref Sequence

ENSEMBL: ENSMUSP00000104045 (fasta)

Gene Model

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

AlphaFold

Q5SSL4

Predicted Effect

probably benign
Transcript: ENSMUST00000065028
AA Change: N215D

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000068982
Gene: ENSMUSG00000017631
AA Change: N215D

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: N433D

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072522
Gene: ENSMUSG00000017631
AA Change: N433D

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

possibly damaging
Transcript: ENSMUST00000094012
AA Change: N445D

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091551
Gene: ENSMUSG00000017631
AA Change: N445D

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: N387D

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104044
Gene: ENSMUSG00000017631
AA Change: N387D

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

possibly damaging
Transcript: ENSMUST00000108408
AA Change: N396D

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104045
Gene: ENSMUSG00000017631
AA Change: N396D

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

probably benign
Transcript: ENSMUST00000130364

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141442

Meta Mutation Damage Score

0.1113

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

95% (124/131)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	T	7: 127,836,258 (GRCm39)	C112S	probably benign	Het
Abca13	G	A	11: 9,227,973 (GRCm39)		probably null	Het
Abca14	A	G	7: 119,911,400 (GRCm39)	E1328G	probably benign	Het
Abca9	T	A	11: 110,021,396 (GRCm39)	I1105F	probably benign	Het
Aftph	A	C	11: 20,677,074 (GRCm39)	C178W	probably damaging	Het
Akr1c14	T	C	13: 4,115,338 (GRCm39)	F89S	possibly damaging	Het
Ank3	C	T	10: 69,822,036 (GRCm39)	A1518V	probably benign	Het
Arfgap2	T	G	2: 91,097,713 (GRCm39)	S143R	probably benign	Het
Aspdh	T	A	7: 44,116,629 (GRCm39)	C107*	probably null	Het
Asphd2	C	A	5: 112,539,612 (GRCm39)	G74W	probably damaging	Het
AU040320	G	A	4: 126,748,259 (GRCm39)		probably null	Het
B3glct	T	A	5: 149,648,867 (GRCm39)		probably null	Het
Bcl9l	A	G	9: 44,418,100 (GRCm39)	K646R	probably damaging	Het
Brat1	T	G	5: 140,704,051 (GRCm39)	L768R	probably damaging	Het
Btbd18	T	A	2: 84,498,265 (GRCm39)	Y634*	probably null	Het
Bub1	T	A	2: 127,665,858 (GRCm39)		probably benign	Het
Carns1	A	T	19: 4,216,417 (GRCm39)	D588E	probably damaging	Het
Cast	T	C	13: 74,894,166 (GRCm39)	K141E	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Chsy3	T	C	18: 59,308,872 (GRCm39)	S42P	possibly damaging	Het
Clca3a1	A	T	3: 144,710,609 (GRCm39)	F865I	possibly damaging	Het
Clec4f	T	A	6: 83,622,264 (GRCm39)	M526L	possibly damaging	Het
Clnk	T	C	5: 38,878,256 (GRCm39)	E301G	probably benign	Het
Colgalt2	T	A	1: 152,365,627 (GRCm39)	I309N	probably benign	Het
Cyp2e1	A	T	7: 140,354,629 (GRCm39)	K326*	probably null	Het
Dagla	T	A	19: 10,227,758 (GRCm39)	T717S	probably benign	Het
Dnajc11	G	A	4: 152,052,999 (GRCm39)	R141H	probably benign	Het
Dst	A	G	1: 34,230,965 (GRCm39)	K2853E	probably benign	Het
Eif4g1	A	G	16: 20,505,265 (GRCm39)	K1208E	possibly damaging	Het
Elane	A	G	10: 79,722,625 (GRCm39)	R48G	probably benign	Het
Fbxo30	T	A	10: 11,165,939 (GRCm39)	N220K	probably benign	Het
Fbxo33	A	T	12: 59,247,714 (GRCm39)		probably benign	Het
Fetub	G	A	16: 22,756,645 (GRCm39)	V169I	probably benign	Het
Gpx6	A	C	13: 21,501,234 (GRCm39)	Q107H	probably damaging	Het
H2bc18	A	T	3: 96,176,467 (GRCm39)		probably benign	Het
Homer3	A	T	8: 70,738,084 (GRCm39)	I19F	probably damaging	Het
Hspa4	C	T	11: 53,175,026 (GRCm39)	V144I	probably benign	Het
Icos	C	T	1: 61,032,876 (GRCm39)	S25L	probably benign	Het
Ifna4	A	G	4: 88,760,185 (GRCm39)	T30A	probably benign	Het
Ino80b	C	T	6: 83,101,731 (GRCm39)	G46D	probably damaging	Het
Kpna2	T	G	11: 106,883,490 (GRCm39)	I100L	possibly damaging	Het
Krt71	C	T	15: 101,643,901 (GRCm39)	G446R	probably damaging	Het
Krtap31-2	A	G	11: 99,827,402 (GRCm39)	N78S	possibly damaging	Het
Lman1	A	G	18: 66,131,505 (GRCm39)	S132P	probably benign	Het
Lmna	T	C	3: 88,393,840 (GRCm39)	Q246R	possibly damaging	Het
Lrp10	T	A	14: 54,706,049 (GRCm39)	V413E	probably damaging	Het
Macf1	A	C	4: 123,365,443 (GRCm39)	I1541S	probably benign	Het
Med24	A	G	11: 98,597,258 (GRCm39)	L874P	probably damaging	Het
Mgll	T	A	6: 88,702,093 (GRCm39)		probably benign	Het
Mrpl37	A	T	4: 106,914,672 (GRCm39)	L364Q	probably damaging	Het
Mrpl47	C	T	3: 32,782,590 (GRCm39)	R209H	probably benign	Het
Muc5ac	T	C	7: 141,371,338 (GRCm39)	F3285L	probably benign	Het
Mylk	A	G	16: 34,699,539 (GRCm39)	R301G	probably benign	Het
Nacad	A	G	11: 6,555,726 (GRCm39)	L8P	unknown	Het
Ncf1	T	A	5: 134,258,399 (GRCm39)	H8L	probably damaging	Het
Ncoa3	T	A	2: 165,911,823 (GRCm39)	M1383K	possibly damaging	Het
Necab2	C	T	8: 120,194,337 (GRCm39)	S271L	probably benign	Het
Nme8	A	T	13: 19,859,808 (GRCm39)		probably null	Het
Nsrp1	T	G	11: 76,967,545 (GRCm39)	T16P	possibly damaging	Het
Obox3	A	T	7: 15,359,617 (GRCm39)		probably null	Het
Or1l8	T	C	2: 36,817,595 (GRCm39)	H177R	probably damaging	Het
Or4c108	A	G	2: 88,803,477 (GRCm39)	C253R	probably damaging	Het
Or4c15	T	A	2: 88,760,258 (GRCm39)	I134F	probably damaging	Het
Or4d6	T	A	19: 12,086,541 (GRCm39)	Y123F	probably damaging	Het
Or52n2b	A	T	7: 104,565,617 (GRCm39)	Y295*	probably null	Het
Or6b2	C	A	1: 92,407,705 (GRCm39)	A213S	probably benign	Het
Osbpl3	C	G	6: 50,277,977 (GRCm39)	E790Q	possibly damaging	Het
Osmr	A	T	15: 6,872,333 (GRCm39)	W254R	probably damaging	Het
Otoa	T	C	7: 120,732,147 (GRCm39)		probably benign	Het
Pagr1a	A	T	7: 126,614,551 (GRCm39)	L218H	probably damaging	Het
Pcdha11	G	A	18: 37,139,997 (GRCm39)	G542D	probably damaging	Het
Pck2	T	A	14: 55,780,018 (GRCm39)	I54N	probably damaging	Het
Ppif	T	C	14: 25,699,923 (GRCm39)	V173A	probably damaging	Het
Ptgs2	T	A	1: 149,979,771 (GRCm39)	L292H	probably damaging	Het
Ptpru	A	G	4: 131,529,897 (GRCm39)	S604P	probably damaging	Het
Qrfpr	T	C	3: 36,236,771 (GRCm39)	H210R	possibly damaging	Het
Rasgrf1	A	G	9: 89,792,171 (GRCm39)	T41A	probably damaging	Het
Rasgrf1	A	G	9: 89,894,919 (GRCm39)	H1113R	probably damaging	Het
Rhoc	T	A	3: 104,699,963 (GRCm39)	I80N	probably damaging	Het
Riok3	A	G	18: 12,287,040 (GRCm39)	N472S	probably benign	Het
Rnf213	A	G	11: 119,336,571 (GRCm39)	Y3314C	probably benign	Het
Shank2	C	T	7: 143,963,205 (GRCm39)	T264I	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	A	G	12: 82,387,968 (GRCm39)	I65V	probably benign	Het
Slc22a19	T	C	19: 7,668,510 (GRCm39)	K291R	possibly damaging	Het
Slc22a20	T	C	19: 6,030,488 (GRCm39)	I315V	probably benign	Het
Slc44a1	A	T	4: 53,560,973 (GRCm39)	D563V	probably damaging	Het
Smchd1	A	T	17: 71,698,463 (GRCm39)	H1104Q	probably benign	Het
Spcs2	A	T	7: 99,493,976 (GRCm39)		probably null	Het
Speer1e	T	A	5: 11,236,458 (GRCm39)	Y138N	probably damaging	Het
Sptb	T	C	12: 76,673,884 (GRCm39)	E301G	probably benign	Het
Stum	T	C	1: 180,270,234 (GRCm39)	D86G	probably damaging	Het
Sufu	A	T	19: 46,472,088 (GRCm39)	D449V	probably benign	Het
Sun5	T	C	2: 153,707,936 (GRCm39)		probably null	Het
Tbc1d15	T	A	10: 115,038,492 (GRCm39)	I574F	probably damaging	Het
Tert	G	A	13: 73,776,182 (GRCm39)	S311N	possibly damaging	Het
Tiparp	T	C	3: 65,460,225 (GRCm39)	Y507H	probably damaging	Het
Tnk2	T	C	16: 32,498,675 (GRCm39)	C158R	probably damaging	Het
Tpgs1	T	C	10: 79,511,454 (GRCm39)	S199P	possibly damaging	Het
Trdmt1	G	T	2: 13,549,464 (GRCm39)		probably benign	Het
Trp53bp1	T	A	2: 121,058,290 (GRCm39)	D944V	probably damaging	Het
Tsc1	T	A	2: 28,569,093 (GRCm39)	I720N	probably damaging	Het
Ttn	T	C	2: 76,539,949 (GRCm39)	T34346A	probably benign	Het
Ttn	T	C	2: 76,727,925 (GRCm39)		probably benign	Het
Uba7	T	A	9: 107,857,004 (GRCm39)	C686S	possibly damaging	Het
Ush2a	T	A	1: 188,582,284 (GRCm39)	F3782L	probably damaging	Het
Vars2	A	T	17: 35,970,235 (GRCm39)	H745Q	possibly damaging	Het
Vgf	T	A	5: 137,061,255 (GRCm39)	D472E	probably damaging	Het
Vmn2r15	T	C	5: 109,434,620 (GRCm39)	M695V	probably benign	Het
Vps41	A	T	13: 18,995,792 (GRCm39)	D208V	probably damaging	Het
Vta1	C	T	10: 14,531,560 (GRCm39)	A272T	probably benign	Het
Wnk4	G	A	11: 101,167,188 (GRCm39)		probably benign	Het
Zfp507	T	C	7: 35,493,807 (GRCm39)	K412R	probably damaging	Het
Zfp768	A	G	7: 126,943,934 (GRCm39)	F65L	possibly damaging	Het
Zfp956	T	C	6: 47,940,510 (GRCm39)	S290P	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
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'- TCAGGCCCTCAGAAACTGAAG -3'
(R):5'- AGCTGAGTGAGATATGAACTTCGG -3'

Sequencing Primer
(F):5'- CCTTTTTAGGAAGCCAGGTAACG -3'
(R):5'- TGAGTGAGATATGAACTTCGGAGGAG -3'

Posted On

2015-11-11