Mutagenetix > Incidental Mutation

Incidental Mutation 'R5445:Apbb1ip'

427378

Institutional Source

Beutler Lab

Gene Symbol

Apbb1ip

Ensembl Gene

ENSMUSG00000026786

Gene Name

amyloid beta precursor protein binding family B member 1 interacting protein

Synonyms

proline-rich protein 48, Prp48, 9930118P07Rik

MMRRC Submission

043010-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5445 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22664106-22765665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22725960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 244 (V244A)

Ref Sequence

ENSEMBL: ENSMUSP00000014290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014290]

AlphaFold

Q8R5A3

PDB Structure

Crystal structure of the Ras-associating and pleckstrin-homology domains of RIAM [X-RAY DIFFRACTION]
Crystal structure of RIAM RA-PH domains in complex with GTP bound Rap1 [X-RAY DIFFRACTION]
Crystal structure of RIAM TBS1 in complex with talin R7R8 domains [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014290
AA Change: V244A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000014290
Gene: ENSMUSG00000026786
AA Change: V244A

Domain	Start	End	E-Value	Type
PDB:3ZDL\|B	1	31	1e-11	PDB
low complexity region	32	39	N/A	INTRINSIC
coiled coil region	62	88	N/A	INTRINSIC
low complexity region	102	118	N/A	INTRINSIC
RA	179	266	1.15e-22	SMART
low complexity region	280	299	N/A	INTRINSIC
PH	314	424	2.05e-10	SMART
low complexity region	516	532	N/A	INTRINSIC
low complexity region	553	570	N/A	INTRINSIC
low complexity region	577	598	N/A	INTRINSIC
low complexity region	622	636	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148315

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and healthy with no apparent defects in platelet integrin activation and function, hemostasis, or arterial thrombus formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,978,557 (GRCm39)	D300E	probably damaging	Het
Arhgap32	T	C	9: 32,159,678 (GRCm39)	S232P	probably benign	Het
Atf7ip	G	A	6: 136,564,255 (GRCm39)	V833M	probably damaging	Het
Casp7	A	G	19: 56,421,770 (GRCm39)		probably null	Het
Ccdc9b	T	C	2: 118,590,067 (GRCm39)	D259G	probably damaging	Het
Celsr2	T	A	3: 108,299,974 (GRCm39)	E2911D	probably benign	Het
Cep350	T	C	1: 155,770,469 (GRCm39)	D1807G	probably benign	Het
Cfap251	C	T	5: 123,425,240 (GRCm39)	T294M	probably damaging	Het
Chrd	A	G	16: 20,557,660 (GRCm39)	T753A	possibly damaging	Het
Clasp2	A	G	9: 113,733,014 (GRCm39)	D971G	probably damaging	Het
Cnnm2	A	G	19: 46,865,727 (GRCm39)	T772A	possibly damaging	Het
Cntn1	A	T	15: 92,192,958 (GRCm39)	N687Y	probably damaging	Het
Col6a3	G	A	1: 90,709,761 (GRCm39)	R1812*	probably null	Het
Dsc2	T	C	18: 20,168,360 (GRCm39)	I700V	possibly damaging	Het
Flt3	G	A	5: 147,291,905 (GRCm39)	Q540*	probably null	Het
Fmo4	T	A	1: 162,632,842 (GRCm39)	I170F	probably benign	Het
Fra10ac1	T	A	19: 38,207,910 (GRCm39)	D72V	possibly damaging	Het
Garin2	G	A	12: 78,761,890 (GRCm39)	E185K	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Gm2381	T	G	7: 42,469,425 (GRCm39)	H233P	probably damaging	Het
Gm5148	T	A	3: 37,768,995 (GRCm39)	Q75L	probably damaging	Het
Gm8369	T	C	19: 11,482,170 (GRCm39)	V27A	possibly damaging	Het
Gpr157	T	C	4: 150,186,825 (GRCm39)	S318P	probably benign	Het
Hectd4	G	A	5: 121,404,337 (GRCm39)	V405M	probably benign	Het
Hemgn	T	C	4: 46,400,738 (GRCm39)	R41G	probably benign	Het
Hhipl1	T	A	12: 108,294,467 (GRCm39)	L791Q	probably damaging	Het
Hjurp	T	G	1: 88,194,038 (GRCm39)	K290T	probably benign	Het
Ifi207	T	C	1: 173,555,363 (GRCm39)	E773G	probably damaging	Het
Kcnh6	T	C	11: 105,914,685 (GRCm39)	Y697H	probably damaging	Het
Lonrf2	T	C	1: 38,846,234 (GRCm39)	T313A	probably benign	Het
Lrba	G	T	3: 86,275,902 (GRCm39)	V1757L	probably benign	Het
Lrrc24	T	C	15: 76,600,306 (GRCm39)	T278A	probably benign	Het
Ltbp2	T	C	12: 84,856,428 (GRCm39)	I679V	probably null	Het
Mapk4	G	T	18: 74,064,073 (GRCm39)	T383K	probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mia3	A	G	1: 183,117,471 (GRCm39)	V208A	probably benign	Het
Myo15a	C	A	11: 60,411,603 (GRCm39)	C3234*	probably null	Het
Nlrp1b	G	T	11: 71,108,701 (GRCm39)	Q267K	probably benign	Het
Nphp3	A	G	9: 103,881,922 (GRCm39)	K37E	probably damaging	Het
Nwd2	T	C	5: 63,962,681 (GRCm39)	M755T	probably damaging	Het
Or10u4	T	A	10: 129,802,158 (GRCm39)	H137L	probably benign	Het
Or52ac1	A	G	7: 104,246,028 (GRCm39)	F120S	probably damaging	Het
Or5p58	A	G	7: 107,693,949 (GRCm39)	V276A	possibly damaging	Het
Pdlim5	C	T	3: 142,058,495 (GRCm39)	R83K	probably null	Het
Plekha5	A	T	6: 140,498,459 (GRCm39)	R173*	probably null	Het
Pramel25	T	A	4: 143,521,707 (GRCm39)	V441E	possibly damaging	Het
Rbms3	T	A	9: 117,080,853 (GRCm39)	D6V	possibly damaging	Het
Rhoq	A	T	17: 87,271,755 (GRCm39)	Y57F	probably benign	Het
Rrm1	A	T	7: 102,100,230 (GRCm39)	T204S	possibly damaging	Het
Slf1	A	T	13: 77,239,323 (GRCm39)	I447N	probably benign	Het
Smarcc2	T	A	10: 128,323,943 (GRCm39)		probably benign	Het
Spdye4c	C	T	2: 128,438,484 (GRCm39)	Q281*	probably null	Het
Tert	T	A	13: 73,792,403 (GRCm39)	M890K	probably benign	Het
Tln1	C	A	4: 43,543,905 (GRCm39)	R1198L	probably benign	Het
Tmco4	A	G	4: 138,748,178 (GRCm39)	M253V	probably damaging	Het
Usp19	G	T	9: 108,375,119 (GRCm39)	V782F	possibly damaging	Het
Usp33	T	A	3: 152,080,260 (GRCm39)	S464T	probably damaging	Het
Usp47	A	T	7: 111,673,928 (GRCm39)	Y397F	probably damaging	Het
Vmn1r12	A	G	6: 57,136,466 (GRCm39)	T144A	probably benign	Het
Vmn2r90	A	T	17: 17,954,386 (GRCm39)	H850L	probably benign	Het
Zfhx3	A	T	8: 109,682,842 (GRCm39)	Q3427L	unknown	Het
Zfp236	G	T	18: 82,700,281 (GRCm39)	Q63K	probably benign	Het
Zfp7	T	A	15: 76,775,054 (GRCm39)	C365*	probably null	Het
Zfp786	T	C	6: 47,796,619 (GRCm39)	E773G	probably damaging	Het

Other mutations in Apbb1ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Apbb1ip	APN	2	22,748,292 (GRCm39)	missense	possibly damaging	0.59
IGL01447:Apbb1ip	APN	2	22,743,194 (GRCm39)	missense	probably damaging	1.00
IGL02987:Apbb1ip	APN	2	22,757,649 (GRCm39)	nonsense	probably null
IGL03329:Apbb1ip	APN	2	22,757,729 (GRCm39)	missense	possibly damaging	0.92
intelligence	UTSW	2	22,725,943 (GRCm39)	missense	probably damaging	1.00
psyops	UTSW	2	22,743,132 (GRCm39)	nonsense	probably null
Simulacrum	UTSW	2	22,757,005 (GRCm39)	critical splice donor site	probably null
Tangles	UTSW	2	22,713,610 (GRCm39)	critical splice donor site	probably null
R0374:Apbb1ip	UTSW	2	22,709,717 (GRCm39)	splice site	probably benign
R0842:Apbb1ip	UTSW	2	22,757,678 (GRCm39)	missense	possibly damaging	0.85
R1678:Apbb1ip	UTSW	2	22,764,892 (GRCm39)	splice site	probably null
R3855:Apbb1ip	UTSW	2	22,765,187 (GRCm39)	missense	unknown
R3971:Apbb1ip	UTSW	2	22,713,506 (GRCm39)	missense	unknown
R4335:Apbb1ip	UTSW	2	22,761,574 (GRCm39)	critical splice donor site	probably null
R4569:Apbb1ip	UTSW	2	22,739,556 (GRCm39)	missense	probably damaging	1.00
R4742:Apbb1ip	UTSW	2	22,716,928 (GRCm39)	missense	unknown
R4804:Apbb1ip	UTSW	2	22,713,610 (GRCm39)	critical splice donor site	probably null
R4820:Apbb1ip	UTSW	2	22,765,265 (GRCm39)	missense	unknown
R4854:Apbb1ip	UTSW	2	22,743,214 (GRCm39)	missense	possibly damaging	0.94
R4899:Apbb1ip	UTSW	2	22,713,361 (GRCm39)	missense	unknown
R4920:Apbb1ip	UTSW	2	22,709,696 (GRCm39)	missense	unknown
R5283:Apbb1ip	UTSW	2	22,757,683 (GRCm39)	missense	probably benign	0.16
R6346:Apbb1ip	UTSW	2	22,757,005 (GRCm39)	critical splice donor site	probably null
R6495:Apbb1ip	UTSW	2	22,743,132 (GRCm39)	nonsense	probably null
R6542:Apbb1ip	UTSW	2	22,764,972 (GRCm39)	missense	probably benign	0.04
R6550:Apbb1ip	UTSW	2	22,748,245 (GRCm39)	missense	probably damaging	1.00
R7011:Apbb1ip	UTSW	2	22,725,943 (GRCm39)	missense	probably damaging	1.00
R7304:Apbb1ip	UTSW	2	22,743,147 (GRCm39)	splice site	probably null
R7554:Apbb1ip	UTSW	2	22,713,558 (GRCm39)	missense	unknown
R7690:Apbb1ip	UTSW	2	22,706,996 (GRCm39)	missense	unknown
R7723:Apbb1ip	UTSW	2	22,761,574 (GRCm39)	critical splice donor site	probably null
R7831:Apbb1ip	UTSW	2	22,756,933 (GRCm39)	missense	probably damaging	1.00
R7861:Apbb1ip	UTSW	2	22,706,990 (GRCm39)	missense	unknown
R8270:Apbb1ip	UTSW	2	22,765,004 (GRCm39)	missense	unknown
R8523:Apbb1ip	UTSW	2	22,709,648 (GRCm39)	missense	unknown
R9158:Apbb1ip	UTSW	2	22,764,951 (GRCm39)	missense	probably benign	0.01
R9696:Apbb1ip	UTSW	2	22,725,989 (GRCm39)	missense	probably benign	0.11
X0014:Apbb1ip	UTSW	2	22,713,566 (GRCm39)	small deletion	probably benign
Z1177:Apbb1ip	UTSW	2	22,765,115 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCATTAACATAGCACCTGCCTC -3'
(R):5'- CACTTGTGAGATTTCCTGAGATTATGG -3'

Sequencing Primer
(F):5'- GTCGACTTCAGATACCTACCCG -3'
(R):5'- GTTTGGTCAGTACACATGTGAC -3'

Posted On

2016-09-01