Mutagenetix > Incidental Mutation

Incidental Mutation 'R1842:Abr'

205829

Institutional Source

Beutler Lab

Gene Symbol

Abr

Ensembl Gene

ENSMUSG00000017631

Gene Name

active BCR-related gene

Synonyms

6330400K15Rik

MMRRC Submission

039867-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R1842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76307560-76468515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76399812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 4 (I4F)

Ref Sequence

ENSEMBL: ENSMUSP00000104044 (fasta)

Gene Model

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

AlphaFold

Q5SSL4

Predicted Effect

probably damaging
Transcript: ENSMUST00000072740
AA Change: I50F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072522
Gene: ENSMUSG00000017631
AA Change: I50F

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: I62F

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000091551
Gene: ENSMUSG00000017631
AA Change: I62F

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: I4F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104044
Gene: ENSMUSG00000017631
AA Change: I4F

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: ENSMUST00000155035
AA Change: I4F

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122614
Gene: ENSMUSG00000017631
AA Change: I4F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176024
AA Change: I4F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135691
Gene: ENSMUSG00000017631
AA Change: I4F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176179
AA Change: I4F

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135515
Gene: ENSMUSG00000017631
AA Change: I4F

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

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 90.8%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,087,865 (GRCm39)	N1087K	probably benign	Het
Abcc3	G	A	11: 94,250,438 (GRCm39)	T921I	probably benign	Het
Adcy10	T	A	1: 165,330,812 (GRCm39)	V25D	probably damaging	Het
Ahnak	T	A	19: 8,983,231 (GRCm39)	M1505K	probably damaging	Het
Alms1-ps2	T	C	6: 85,773,231 (GRCm39)		noncoding transcript	Het
Apob	C	G	12: 8,061,559 (GRCm39)	T3347S	probably damaging	Het
Arhgap27	C	A	11: 103,230,822 (GRCm39)	G11W	probably damaging	Het
Ccdc110	A	T	8: 46,393,605 (GRCm39)	I106F	probably damaging	Het
Ccdc28b	T	A	4: 129,514,806 (GRCm39)	D101V	probably damaging	Het
Ccdc30	T	C	4: 119,188,324 (GRCm39)	E566G	probably benign	Het
Cenpm	T	C	15: 82,123,565 (GRCm39)	S111G	probably benign	Het
Cep55	A	G	19: 38,046,348 (GRCm39)	I34V	probably benign	Het
Dcdc2a	T	C	13: 25,291,585 (GRCm39)	L190S	probably damaging	Het
Dhh	T	C	15: 98,792,441 (GRCm39)		probably null	Het
Dst	A	G	1: 34,203,200 (GRCm39)	N703S	probably null	Het
E030025P04Rik	G	A	11: 109,030,396 (GRCm39)	L164F	unknown	Het
Efcab5	A	G	11: 77,025,701 (GRCm39)	V538A	probably benign	Het
Egflam	A	G	15: 7,333,422 (GRCm39)	S177P	probably benign	Het
Ehbp1l1	A	T	19: 5,775,958 (GRCm39)	C31S	probably damaging	Het
Eif2d	C	A	1: 131,098,797 (GRCm39)	Q532K	probably damaging	Het
Elf3	T	C	1: 135,184,531 (GRCm39)	D175G	possibly damaging	Het
F5	T	C	1: 164,012,129 (GRCm39)	V449A	probably damaging	Het
Fam110a	A	T	2: 151,811,954 (GRCm39)	I272N	probably damaging	Het
Fbxo34	A	G	14: 47,768,464 (GRCm39)	D608G	probably damaging	Het
Flrt2	T	C	12: 95,746,058 (GRCm39)	L132P	probably damaging	Het
Frg2f1	A	T	4: 119,388,277 (GRCm39)	V74D	possibly damaging	Het
Gad1	G	T	2: 70,404,597 (GRCm39)	E162D	probably benign	Het
Glb1l	A	G	1: 75,177,104 (GRCm39)	V444A	probably damaging	Het
Gm10770	G	A	2: 150,021,076 (GRCm39)	T147I	probably damaging	Het
Gm43302	T	C	5: 105,425,602 (GRCm39)	I276V	probably benign	Het
Greb1	T	C	12: 16,746,244 (GRCm39)	H1314R	probably damaging	Het
Hapln2	A	G	3: 87,931,308 (GRCm39)	V69A	probably damaging	Het
Hcn1	T	C	13: 118,112,544 (GRCm39)	I836T	probably damaging	Het
Hspa5	A	G	2: 34,665,815 (GRCm39)	D553G	probably damaging	Het
Iqgap1	A	T	7: 80,410,631 (GRCm39)	I194N	probably damaging	Het
Kansl3	A	G	1: 36,390,825 (GRCm39)	V304A	probably damaging	Het
Kdm5d	C	T	Y: 927,798 (GRCm39)	S716L	probably damaging	Het
Klra6	T	C	6: 129,999,573 (GRCm39)	T132A	probably benign	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrp1	A	G	10: 127,409,337 (GRCm39)	I1594T	possibly damaging	Het
Lrp2bp	A	G	8: 46,464,152 (GRCm39)	D15G	probably benign	Het
Map4k1	T	C	7: 28,686,588 (GRCm39)	L170P	probably damaging	Het
Mast3	A	G	8: 71,233,037 (GRCm39)	F1108L	possibly damaging	Het
Mettl5	G	T	2: 69,715,686 (GRCm39)	L6I	unknown	Het
Mfsd14a	A	T	3: 116,426,057 (GRCm39)	F447I	possibly damaging	Het
Mrc2	A	G	11: 105,228,546 (GRCm39)	I642V	probably damaging	Het
Necap1	A	G	6: 122,851,547 (GRCm39)	Y7C	probably damaging	Het
Nsd1	G	A	13: 55,394,258 (GRCm39)	E723K	probably damaging	Het
Nsun3	A	T	16: 62,596,755 (GRCm39)	L121H	probably damaging	Het
Nsun6	A	T	2: 15,014,288 (GRCm39)	M284K	probably damaging	Het
Nutf2	T	C	8: 106,603,242 (GRCm39)		probably null	Het
Odad2	A	T	18: 7,223,551 (GRCm39)	D497E	probably benign	Het
Or1j20	A	T	2: 36,759,601 (GRCm39)	N8Y	probably damaging	Het
Or5d38	A	T	2: 87,954,471 (GRCm39)	M286K	probably damaging	Het
Pacs1	T	C	19: 5,205,912 (GRCm39)	E288G	probably damaging	Het
Peg10	A	T	6: 4,756,381 (GRCm39)		probably benign	Het
Rab38	G	A	7: 88,099,730 (GRCm39)	E82K	possibly damaging	Het
Rgsl1	T	A	1: 153,675,543 (GRCm39)	E206V	probably damaging	Het
Saxo5	T	A	8: 3,533,668 (GRCm39)	F295L	possibly damaging	Het
Scube3	G	A	17: 28,384,063 (GRCm39)	V521I	probably damaging	Het
Sgpp1	C	T	12: 75,762,982 (GRCm39)	V400M	probably damaging	Het
Slc18b1	T	C	10: 23,681,891 (GRCm39)	S152P	possibly damaging	Het
Slit1	A	T	19: 41,709,477 (GRCm39)		probably null	Het
Spata31d1e	T	C	13: 59,890,320 (GRCm39)	Y82C	probably damaging	Het
Spta1	A	G	1: 174,023,513 (GRCm39)	K640R	probably benign	Het
Svil	A	G	18: 5,062,373 (GRCm39)	T898A	probably damaging	Het
Timm44	A	G	8: 4,310,510 (GRCm39)		probably null	Het
Tomm40	A	G	7: 19,447,650 (GRCm39)	S127P	probably benign	Het
Vmn2r23	T	A	6: 123,706,649 (GRCm39)	V493D	possibly damaging	Het
Yeats2	T	C	16: 19,989,988 (GRCm39)	V288A	probably damaging	Het
Zfhx4	C	T	3: 5,466,558 (GRCm39)	R2239W	probably damaging	Het
Zscan2	A	C	7: 80,525,301 (GRCm39)	K341Q	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
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'- TGACACTGTCCTACGCAGAC -3'
(R):5'- GCTGACATGCTATTAGGCGG -3'

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

Posted On

2014-06-23