Mutagenetix > Incidental Mutation

Incidental Mutation 'R3824:Rack1'

275290

Institutional Source

Beutler Lab

Gene Symbol

Rack1

Ensembl Gene

ENSMUSG00000020372

Gene Name

receptor for activated C kinase 1

Synonyms

Gnb2-rs1, GB-like, p205, Gnb2l1

MMRRC Submission

040885-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48800332-48806434 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48802304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 105 (T105A)

Ref Sequence

ENSEMBL: ENSMUSP00000020640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020640] [ENSMUST00000047145]

AlphaFold

P68040

Predicted Effect

probably benign
Transcript: ENSMUST00000020640
AA Change: T105A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020640
Gene: ENSMUSG00000020372
AA Change: T105A

Domain	Start	End	E-Value	Type
WD40	4	44	5.55e-7	SMART
WD40	52	91	6.48e-8	SMART
WD40	94	133	2.95e-11	SMART
WD40	135	178	8.55e-8	SMART
WD40	181	220	2.42e-7	SMART
WD40	223	260	6.34e-2	SMART
WD40	271	311	2.4e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047145

SMART Domains

Protein: ENSMUSP00000037055
Gene: ENSMUSG00000040365

Domain	Start	End	E-Value	Type
RING	20	186	2.91e-6	SMART
BBOX	222	263	3.31e-10	SMART
coiled coil region	281	313	N/A	INTRINSIC
coiled coil region	336	374	N/A	INTRINSIC
PRY	430	482	2.04e-19	SMART
Pfam:SPRY	485	629	6.4e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142269

Meta Mutation Damage Score

0.1354

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

MGI Phenotype

PHENOTYPE: Embryos homozygous for a hypomorphic allele lack early egg cylinders and die at gastrulation. Heterozygotes show a transient growth deficit, a white belly spot and hypopigmented tail and paws, while embryonic fibroblasts show a reduction in PMA- and insulin-stimulated translation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,567,611	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,802,913	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,119,150		probably null	Het
A2ml1	A	G	6: 128,568,763	V467A	probably damaging	Het
Abcc3	T	C	11: 94,368,620		probably null	Het
Acad10	A	T	5: 121,622,818	M941K	probably benign	Het
Agrn	A	G	4: 156,169,302	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,393,549	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,480,465	T308S	probably benign	Het
C8b	G	T	4: 104,783,009	A170S	probably benign	Het
Cabyr	T	A	18: 12,751,690	D411E	probably benign	Het
Capn3	T	C	2: 120,484,483		probably benign	Het
Cd200r4	T	C	16: 44,820,950	F19L	probably benign	Het
Cflar	T	A	1: 58,735,697	Y218N	probably benign	Het
Col11a2	T	C	17: 34,054,180	Y630H	probably damaging	Het
Coq6	T	C	12: 84,372,415		probably benign	Het
Drg2	A	G	11: 60,459,508	T98A	possibly damaging	Het
Fam205c	A	G	4: 42,873,492		probably null	Het
Fry	T	A	5: 150,496,419	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,351,429	S240P	probably benign	Het
Glmp	G	A	3: 88,326,411	V107I	probably damaging	Het
Gls	A	C	1: 52,232,988	M2R	possibly damaging	Het
Gm13078	A	T	4: 143,726,685	H121L	probably benign	Het
Gm5724	T	C	6: 141,754,374	Q144R	possibly damaging	Het
Gm906	G	A	13: 50,245,512	S926F	possibly damaging	Het
Igfbp4	A	G	11: 99,048,235	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621	Y645*	probably null	Het
Kat6a	G	T	8: 22,862,364	V55F	probably damaging	Het
Kat8	T	A	7: 127,924,482	D292E	possibly damaging	Het
Myo19	T	A	11: 84,885,679	C54S	probably damaging	Het
Myo5b	C	T	18: 74,661,655	H532Y	probably benign	Het
Nckap1	T	C	2: 80,540,560	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,660,271	V105M	probably benign	Het
Olfr1076	T	G	2: 86,509,023	L188R	possibly damaging	Het
Olfr1394	A	G	11: 49,160,793	S260G	possibly damaging	Het
Olfr888	A	T	9: 38,108,838	I51F	possibly damaging	Het
Olfr895	T	G	9: 38,268,518	S2A	probably benign	Het
Olfr904	T	A	9: 38,464,526	C162S	probably benign	Het
Palld	T	C	8: 61,709,033	D439G	probably damaging	Het
Pcf11	T	C	7: 92,659,620		probably benign	Het
Pigo	A	T	4: 43,020,909	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,583,271		probably null	Het
Plscr3	G	A	11: 69,850,138	V267M	probably benign	Het
Prom2	A	G	2: 127,535,673		probably benign	Het
Ptk7	A	G	17: 46,565,378	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,350,789	I1743F	probably benign	Het
Ptprm	A	G	17: 66,809,575	V894A	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sdk1	A	G	5: 141,936,049	T267A	probably benign	Het
Sorcs3	T	A	19: 48,722,956	D653E	probably damaging	Het
St8sia1	A	G	6: 142,829,025	L276P	probably damaging	Het
Sync	T	C	4: 129,294,363	V396A	possibly damaging	Het
Taok3	A	G	5: 117,255,937	T592A	probably benign	Het
Tas2r104	T	A	6: 131,685,039	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,659,330	I252S	probably benign	Het
Tmem259	T	C	10: 79,978,448	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,834,197	N200K	possibly damaging	Het
Usp24	G	A	4: 106,379,066	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,102,212	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,958,258	N86H	probably damaging	Het
Zfp12	T	C	5: 143,240,322	V72A	probably benign	Het

Other mutations in Rack1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02524:Rack1	APN	11	48803471	missense	probably benign	0.14
IGL02673:Rack1	APN	11	48800530	missense	probably benign	0.01
R0630:Rack1	UTSW	11	48803977	unclassified	probably benign
R1465:Rack1	UTSW	11	48801759	missense	probably damaging	0.97
R1465:Rack1	UTSW	11	48801759	missense	probably damaging	0.97
R3825:Rack1	UTSW	11	48802304	missense	probably benign
R4298:Rack1	UTSW	11	48801626	unclassified	probably benign
R4885:Rack1	UTSW	11	48805636	missense	probably damaging	1.00
R6935:Rack1	UTSW	11	48803495	missense	probably damaging	0.97
R6997:Rack1	UTSW	11	48803925	missense	probably damaging	1.00
R7015:Rack1	UTSW	11	48801765	missense	probably benign	0.39
R8765:Rack1	UTSW	11	48803459	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- TCCTGCAATTCTGAATGGGTTC -3'
(R):5'- ACACCTAGGAGTCAGATCACTC -3'

Sequencing Primer
(F):5'- GCAATTCTGAATGGGTTCTCTGATAC -3'
(R):5'- GAGTCAGATCACTCCAGGCC -3'

Posted On

2015-04-02