Mutagenetix > Incidental Mutation

Incidental Mutation 'R1861:Abra'

203959

Institutional Source

Beutler Lab

Gene Symbol

Abra

Ensembl Gene

ENSMUSG00000042895

Gene Name

actin-binding Rho activating protein

Synonyms

STARS, C130068O12Rik

MMRRC Submission

039884-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

R1861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41864076-41869720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41869034 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 212 (R212L)

Ref Sequence

ENSEMBL: ENSMUSP00000051973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054742]

AlphaFold

Q8BUZ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000054742
AA Change: R212L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051973
Gene: ENSMUSG00000042895
AA Change: R212L

Domain	Start	End	E-Value	Type
Costars	298	374	6.22e-45	SMART

Meta Mutation Damage Score

0.1951

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (117/121)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired arteriogenesis following occlusion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	C	A	9: 89,152,831 (GRCm38)		noncoding transcript	Het
Actr1a	T	C	19: 46,384,275 (GRCm38)	E87G	probably damaging	Het
Adam26a	A	G	8: 43,569,541 (GRCm38)	V304A	possibly damaging	Het
Alg2	T	A	4: 47,471,670 (GRCm38)	K379N	probably benign	Het
Alk	G	T	17: 71,874,938 (GRCm38)		probably benign	Het
Aopep	A	G	13: 63,015,783 (GRCm38)	Y206C	probably damaging	Het
Arhgef17	A	G	7: 100,882,268 (GRCm38)	Y331H	probably damaging	Het
Art3	A	G	5: 92,412,235 (GRCm38)		probably benign	Het
Asap1	G	A	15: 64,135,798 (GRCm38)		probably benign	Het
Atad2	A	T	15: 58,096,718 (GRCm38)		probably null	Het
Atp8b5	G	A	4: 43,372,906 (GRCm38)	R1150H	probably damaging	Het
Bltp2	C	T	11: 78,287,929 (GRCm38)		probably benign	Het
Brdt	T	C	5: 107,359,458 (GRCm38)	S575P	probably benign	Het
Capn3	T	A	2: 120,486,482 (GRCm38)		probably benign	Het
Casd1	T	A	6: 4,640,951 (GRCm38)	Y691N	probably damaging	Het
Ccdc127	T	G	13: 74,356,979 (GRCm38)	H215Q	possibly damaging	Het
Cenpe	T	C	3: 135,268,979 (GRCm38)	L2300P	probably damaging	Het
Clasp1	T	C	1: 118,570,931 (GRCm38)	F898L	possibly damaging	Het
Clcn1	C	A	6: 42,313,991 (GRCm38)	P933Q	possibly damaging	Het
Cntn3	T	A	6: 102,245,071 (GRCm38)	N489I	probably benign	Het
Col16a1	T	C	4: 130,061,724 (GRCm38)		probably benign	Het
Col24a1	G	A	3: 145,537,267 (GRCm38)		probably null	Het
Col8a2	C	T	4: 126,311,624 (GRCm38)		probably benign	Het
Cpd	T	C	11: 76,784,382 (GRCm38)		probably benign	Het
Csmd3	A	T	15: 47,659,192 (GRCm38)	C2694S	probably damaging	Het
Cyp2c40	T	C	19: 39,786,875 (GRCm38)	Y311C	probably benign	Het
Dennd5b	T	A	6: 149,068,262 (GRCm38)	N231I	probably damaging	Het
Dgkh	T	A	14: 78,578,792 (GRCm38)	H936L	probably benign	Het
Dmtf1	T	C	5: 9,120,347 (GRCm38)		probably null	Het
Dnai2	T	C	11: 114,752,951 (GRCm38)	V481A	possibly damaging	Het
Dnai3	T	C	3: 146,083,046 (GRCm38)	Y260C	probably damaging	Het
Dpyd	T	G	3: 118,917,131 (GRCm38)	V396G	probably damaging	Het
Elmo3	A	G	8: 105,308,581 (GRCm38)	D448G	probably damaging	Het
Emsy	A	T	7: 98,641,615 (GRCm38)	V100E	probably damaging	Het
Erbb2	T	C	11: 98,412,737 (GRCm38)		probably null	Het
Faah	T	C	4: 116,008,235 (GRCm38)	K85R	probably benign	Het
Fam149a	A	T	8: 45,339,362 (GRCm38)	Y686*	probably null	Het
Fat4	T	C	3: 39,010,484 (GRCm38)	V4863A	probably benign	Het
Fbxl8	A	G	8: 105,268,929 (GRCm38)	T358A	probably damaging	Het
Fcgbpl1	A	G	7: 28,154,732 (GRCm38)	Y1707C	probably damaging	Het
Fgfr3	A	G	5: 33,729,746 (GRCm38)	T165A	probably damaging	Het
Fnbp1l	A	T	3: 122,560,932 (GRCm38)	H180Q	probably damaging	Het
Gm8180	T	A	14: 43,783,739 (GRCm38)	H4L	probably benign	Het
Gon4l	T	C	3: 88,895,487 (GRCm38)	V1135A	probably damaging	Het
Gstcd	G	T	3: 132,983,107 (GRCm38)	N627K	probably damaging	Het
Gtf2a1l	G	A	17: 88,714,954 (GRCm38)	V458I	probably damaging	Het
Gtf3c3	T	C	1: 54,438,838 (GRCm38)	E26G	possibly damaging	Het
Hrct1	A	T	4: 43,727,404 (GRCm38)	T15S	probably benign	Het
Ift122	C	A	6: 115,891,928 (GRCm38)	R459S	probably damaging	Het
Irf1	T	A	11: 53,774,357 (GRCm38)	C187S	possibly damaging	Het
Kcnh7	A	G	2: 62,777,392 (GRCm38)	V615A	probably damaging	Het
Kif1c	T	C	11: 70,703,342 (GRCm38)	S61P	probably damaging	Het
Mamdc2	T	C	19: 23,359,153 (GRCm38)	T331A	probably damaging	Het
Mark2	T	C	19: 7,290,763 (GRCm38)	D25G	possibly damaging	Het
Me2	T	C	18: 73,785,714 (GRCm38)	D432G	probably benign	Het
Mfap3	T	C	11: 57,528,206 (GRCm38)	V64A	probably benign	Het
Nadk2	T	A	15: 9,108,311 (GRCm38)	M416K	probably benign	Het
Ndufs1	C	T	1: 63,147,417 (GRCm38)	G631D	probably benign	Het
Nomo1	G	A	7: 46,078,101 (GRCm38)	V1055I	probably benign	Het
Nuggc	T	A	14: 65,642,001 (GRCm38)		probably benign	Het
Nwd2	T	C	5: 63,804,854 (GRCm38)	S594P	probably damaging	Het
Or13c3	T	A	4: 52,856,373 (GRCm38)	I47L	probably benign	Het
Or4a27	T	G	2: 88,729,330 (GRCm38)	I90L	probably damaging	Het
Or4b1b	C	A	2: 90,282,158 (GRCm38)	C139F	probably damaging	Het
Or5b113	T	A	19: 13,365,341 (GRCm38)	S238T	possibly damaging	Het
Or6p1	T	C	1: 174,431,091 (GRCm38)	I221T	probably damaging	Het
Or8c10	C	T	9: 38,367,606 (GRCm38)	S10L	probably benign	Het
Palm2	A	G	4: 57,709,468 (GRCm38)	I138V	probably damaging	Het
Pcyt2	G	A	11: 120,611,142 (GRCm38)	P332S	probably benign	Het
Phaf1	A	G	8: 105,240,071 (GRCm38)	E150G	probably null	Het
Phf14	A	T	6: 11,987,611 (GRCm38)	M630L	probably benign	Het
Piezo1	T	C	8: 122,495,750 (GRCm38)	N919S	possibly damaging	Het
Pif1	A	T	9: 65,589,453 (GRCm38)	I283F	probably damaging	Het
Pknox2	G	A	9: 36,923,661 (GRCm38)	H171Y	probably damaging	Het
Pramel17	A	T	4: 101,836,938 (GRCm38)	D249E	probably benign	Het
Prkg2	T	A	5: 98,947,416 (GRCm38)	D632V	probably damaging	Het
Prr29	G	A	11: 106,375,438 (GRCm38)	A6T	probably damaging	Het
Rims1	T	A	1: 22,596,558 (GRCm38)	Y114F	probably damaging	Het
Ryr1	A	T	7: 29,009,552 (GRCm38)	D4796E	unknown	Het
Scnn1b	G	A	7: 121,914,261 (GRCm38)	C399Y	probably damaging	Het
Scp2	T	C	4: 108,091,321 (GRCm38)	Y153C	probably damaging	Het
Sema3d	A	G	5: 12,497,603 (GRCm38)	K164R	probably benign	Het
Siglecf	A	G	7: 43,355,543 (GRCm38)	N399S	probably benign	Het
Siglecf	A	G	7: 43,352,224 (GRCm38)	T153A	probably benign	Het
Skint2	T	C	4: 112,647,118 (GRCm38)		probably benign	Het
Slc22a8	G	A	19: 8,606,139 (GRCm38)	R236H	probably damaging	Het
Slc25a40	T	A	5: 8,442,431 (GRCm38)		probably null	Het
Slc26a5	T	C	5: 21,816,958 (GRCm38)	D490G	possibly damaging	Het
Slc26a7	G	T	4: 14,522,873 (GRCm38)	D482E	probably benign	Het
Smarca2	A	T	19: 26,623,884 (GRCm38)	M77L	probably benign	Het
Sos2	A	G	12: 69,617,363 (GRCm38)	L449P	probably damaging	Het
Spaca1	A	G	4: 34,044,206 (GRCm38)	V96A	probably damaging	Het
Spata31d1b	T	A	13: 59,717,336 (GRCm38)	I766N	possibly damaging	Het
Specc1l	T	C	10: 75,309,859 (GRCm38)	Y1113H	probably damaging	Het
Speg	A	G	1: 75,389,005 (GRCm38)	R677G	probably damaging	Het
Taf5l	A	T	8: 123,997,990 (GRCm38)	D363E	probably damaging	Het
Tex56	A	T	13: 34,932,507 (GRCm38)	I80F	possibly damaging	Het
Tmem208	A	G	8: 105,334,806 (GRCm38)	K155E	possibly damaging	Het
Tppp2	A	C	14: 51,920,605 (GRCm38)	N169T	probably benign	Het
Trrap	T	A	5: 144,815,917 (GRCm38)		probably null	Het
Ttll6	T	A	11: 96,138,874 (GRCm38)	Y204*	probably null	Het
Ttn	A	T	2: 76,772,648 (GRCm38)	I18410K	probably benign	Het
V1rd19	T	A	7: 24,003,724 (GRCm38)	V205D	probably damaging	Het
Vdac3	A	T	8: 22,580,499 (GRCm38)	I132K	possibly damaging	Het
Vmn2r95	T	G	17: 18,452,268 (GRCm38)	C756G	probably damaging	Het
Zc3h15	A	G	2: 83,663,990 (GRCm38)	T421A	unknown	Het
Zc3hc1	T	C	6: 30,374,838 (GRCm38)	T235A	probably benign	Het
Zcchc14	A	G	8: 121,609,251 (GRCm38)		probably benign	Het
Zfp318	T	A	17: 46,411,440 (GRCm38)	N1456K	possibly damaging	Het
Zfp606	A	G	7: 12,480,931 (GRCm38)		probably benign	Het
Zfp811	T	A	17: 32,797,425 (GRCm38)	H546L	probably damaging	Het
Zfp94	A	T	7: 24,309,116 (GRCm38)	Y33N	probably damaging	Het
Zfyve9	G	T	4: 108,682,295 (GRCm38)		probably benign	Het

Other mutations in Abra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01512:Abra	APN	15	41,866,017 (GRCm38)	missense	probably damaging	0.99
IGL02022:Abra	APN	15	41,869,406 (GRCm38)	missense	probably benign
IGL02370:Abra	APN	15	41,869,244 (GRCm38)	missense	probably damaging	1.00
IGL02406:Abra	APN	15	41,869,187 (GRCm38)	missense	probably damaging	1.00
R1860:Abra	UTSW	15	41,869,034 (GRCm38)	missense	probably damaging	1.00
R2385:Abra	UTSW	15	41,869,353 (GRCm38)	missense	probably damaging	0.97
R3718:Abra	UTSW	15	41,866,293 (GRCm38)	missense	probably benign
R4582:Abra	UTSW	15	41,869,285 (GRCm38)	missense	probably benign	0.16
R4621:Abra	UTSW	15	41,869,224 (GRCm38)	missense	probably benign	0.10
R4724:Abra	UTSW	15	41,865,906 (GRCm38)	missense	probably damaging	1.00
R5926:Abra	UTSW	15	41,866,254 (GRCm38)	missense	probably damaging	1.00
R6417:Abra	UTSW	15	41,866,056 (GRCm38)	missense	probably benign	0.01
R6649:Abra	UTSW	15	41,869,233 (GRCm38)	missense	probably benign
R7348:Abra	UTSW	15	41,866,159 (GRCm38)	missense	probably damaging	1.00
R7487:Abra	UTSW	15	41,869,553 (GRCm38)	missense	probably damaging	1.00
R7997:Abra	UTSW	15	41,866,197 (GRCm38)	missense	probably damaging	1.00
R8785:Abra	UTSW	15	41,866,260 (GRCm38)	missense	probably damaging	0.99
R9171:Abra	UTSW	15	41,869,116 (GRCm38)	missense	possibly damaging	0.92
RF053:Abra	UTSW	15	41,866,299 (GRCm38)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGTGATGGCATGGACCAG -3'
(R):5'- TTAGTCACGACTCGCCAAC -3'

Sequencing Primer
(F):5'- AAGAGCCACAGCCGAAGTTAGTTAG -3'
(R):5'- GACTCGCCAACACGGAG -3'

Posted On

2014-06-23