Mutagenetix > Incidental Mutation

Incidental Mutation 'R0589:Rassf5'

55856

Institutional Source

Beutler Lab

Gene Symbol

Rassf5

Ensembl Gene

ENSMUSG00000026430

Gene Name

Ras association (RalGDS/AF-6) domain family member 5

Synonyms

Rapl, 1300019G20Rik, Nore1A, Nore1B

MMRRC Submission

038779-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R0589 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

131104147-131172915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 131172720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 50 (G50R)

Ref Sequence

ENSEMBL: ENSMUSP00000108061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027688] [ENSMUST00000112442]

AlphaFold

Q5EBH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000027688
AA Change: G50R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027688
Gene: ENSMUSG00000026430
AA Change: G50R

Domain	Start	End	E-Value	Type
low complexity region	31	39	N/A	INTRINSIC
low complexity region	49	67	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
C1	116	165	6.29e-8	SMART
RA	267	359	1.07e-22	SMART
Pfam:Nore1-SARAH	366	405	1.1e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112442
AA Change: G50R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108061
Gene: ENSMUSG00000026430
AA Change: G50R

Domain	Start	End	E-Value	Type
low complexity region	31	39	N/A	INTRINSIC
low complexity region	49	67	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
C1	116	165	6.29e-8	SMART
PDB:3DDC\|B	198	301	7e-62	PDB
Blast:RA	267	294	5e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124796

Meta Mutation Damage Score

0.0780

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.1%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele have defects in lymphocyte homing to lymphoid tissues, B cell maturation and dendritic cell function, and display lymphocyte hyperproliferation leading to lupus glomerulonephritis and lymphomas. Homozygotes for another null allele are resistant to TNF-induced apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,833,094 (GRCm39)	A1202E	probably damaging	Het
Abcc12	A	T	8: 87,287,101 (GRCm39)	I155N	possibly damaging	Het
Atf4	T	A	15: 80,140,640 (GRCm39)	H47Q	probably damaging	Het
Atm	T	A	9: 53,401,492 (GRCm39)	D1459V	possibly damaging	Het
Bicral	A	G	17: 47,112,522 (GRCm39)	S893P	probably benign	Het
Camk2a	G	A	18: 61,097,036 (GRCm39)		probably null	Het
Cebpz	G	A	17: 79,244,308 (GRCm39)	T51I	probably damaging	Het
Cers5	A	T	15: 99,638,837 (GRCm39)	D208E	probably damaging	Het
Cimip2b	T	C	4: 43,427,355 (GRCm39)		probably benign	Het
Cyp1a2	T	C	9: 57,586,345 (GRCm39)	D391G	possibly damaging	Het
Dct	G	T	14: 118,280,682 (GRCm39)	F111L	probably benign	Het
Ddb1	T	G	19: 10,599,080 (GRCm39)	I529S	probably benign	Het
Dhx9	G	T	1: 153,348,037 (GRCm39)	Q361K	probably damaging	Het
Dnai3	A	G	3: 145,768,086 (GRCm39)	S592P	probably benign	Het
Erbin	G	T	13: 104,022,795 (GRCm39)	R15S	probably damaging	Het
F13b	T	C	1: 139,434,671 (GRCm39)	S146P	possibly damaging	Het
Ggnbp2	A	T	11: 84,727,277 (GRCm39)	C520S	probably damaging	Het
Gpx3	A	G	11: 54,800,329 (GRCm39)	I208V	probably benign	Het
Grk3	A	G	5: 113,076,629 (GRCm39)		probably benign	Het
Heatr9	T	C	11: 83,405,516 (GRCm39)		probably benign	Het
Heg1	T	G	16: 33,552,077 (GRCm39)	I762R	probably damaging	Het
Ints11	A	T	4: 155,971,343 (GRCm39)	T264S	probably damaging	Het
Ints14	T	C	9: 64,887,113 (GRCm39)	L348P	probably damaging	Het
Maco1	C	A	4: 134,555,528 (GRCm39)	C315F	probably benign	Het
Marf1	C	A	16: 13,959,919 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,174,075 (GRCm39)	Y1808H	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Mrpl45	A	T	11: 97,214,714 (GRCm39)	T134S	probably benign	Het
Myh8	A	G	11: 67,189,453 (GRCm39)	I1210V	probably benign	Het
Nsd3	T	C	8: 26,131,303 (GRCm39)	S223P	probably damaging	Het
Or2j6	T	G	7: 139,980,813 (GRCm39)	S49R	possibly damaging	Het
Or4c115	A	G	2: 88,927,606 (GRCm39)	F222L	probably benign	Het
Or5be3	A	T	2: 86,864,459 (GRCm39)	Y35*	probably null	Het
P3h3	T	A	6: 124,818,644 (GRCm39)	E731D	probably damaging	Het
Pcdhac2	A	G	18: 37,279,527 (GRCm39)	R836G	probably benign	Het
Pdzd2	A	G	15: 12,376,385 (GRCm39)	V1250A	probably benign	Het
Pgbd1	G	A	13: 21,618,600 (GRCm39)	T19I	possibly damaging	Het
Phtf2	T	A	5: 21,018,249 (GRCm39)	R31*	probably null	Het
Plod2	T	A	9: 92,475,799 (GRCm39)	V294D	probably benign	Het
Rexo5	A	G	7: 119,444,606 (GRCm39)	T694A	probably benign	Het
Rtcb	A	C	10: 85,787,315 (GRCm39)	S82A	probably damaging	Het
Rufy4	T	C	1: 74,172,042 (GRCm39)	L255P	probably damaging	Het
Slc35c1	A	G	2: 92,284,859 (GRCm39)	F252L	probably damaging	Het
Slco6d1	A	T	1: 98,427,472 (GRCm39)		probably benign	Het
Sox10	T	G	15: 79,047,485 (GRCm39)		probably benign	Het
Stard9	A	G	2: 120,529,028 (GRCm39)	M1762V	probably benign	Het
Stat3	A	T	11: 100,798,909 (GRCm39)	Y94N	probably damaging	Het
Tasor	T	C	14: 27,183,107 (GRCm39)	I522T	probably benign	Het
Tecta	T	A	9: 42,256,930 (GRCm39)	Y1582F	probably benign	Het
Tex44	A	G	1: 86,355,453 (GRCm39)	D454G	probably damaging	Het
Tle6	A	G	10: 81,431,253 (GRCm39)		probably benign	Het
Tmod2	T	C	9: 75,484,041 (GRCm39)	E303G	probably damaging	Het
Trem1	A	G	17: 48,544,245 (GRCm39)	D90G	possibly damaging	Het
Trhde	A	T	10: 114,284,229 (GRCm39)	D751E	probably benign	Het
Ttn	A	T	2: 76,795,589 (GRCm39)		probably null	Het
Vars2	T	C	17: 35,970,068 (GRCm39)	T774A	probably benign	Het

Other mutations in Rassf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02728:Rassf5	APN	1	131,108,336 (GRCm39)	missense	probably damaging	0.96
IGL03055:Rassf5	UTSW	1	131,172,732 (GRCm39)	missense	probably benign	0.00
R0464:Rassf5	UTSW	1	131,139,998 (GRCm39)	missense	probably benign	0.00
R0634:Rassf5	UTSW	1	131,172,693 (GRCm39)	missense	probably damaging	0.99
R0639:Rassf5	UTSW	1	131,172,803 (GRCm39)	missense	probably damaging	1.00
R0727:Rassf5	UTSW	1	131,109,002 (GRCm39)	missense	probably damaging	1.00
R1926:Rassf5	UTSW	1	131,140,076 (GRCm39)	missense	probably damaging	1.00
R2310:Rassf5	UTSW	1	131,172,477 (GRCm39)	missense	probably damaging	1.00
R5354:Rassf5	UTSW	1	131,108,385 (GRCm39)	missense	probably benign	0.00
R5422:Rassf5	UTSW	1	131,108,911 (GRCm39)	missense	possibly damaging	0.87
R5490:Rassf5	UTSW	1	131,108,932 (GRCm39)	missense	possibly damaging	0.95
R6189:Rassf5	UTSW	1	131,172,716 (GRCm39)	missense	probably damaging	1.00
R6328:Rassf5	UTSW	1	131,108,405 (GRCm39)	missense	probably damaging	1.00
R6531:Rassf5	UTSW	1	131,172,551 (GRCm39)	missense	possibly damaging	0.93
R6759:Rassf5	UTSW	1	131,109,988 (GRCm39)	missense	probably benign	0.08
R7115:Rassf5	UTSW	1	131,108,986 (GRCm39)	missense	probably benign	0.21
R7350:Rassf5	UTSW	1	131,106,273 (GRCm39)	missense	possibly damaging	0.75
R7910:Rassf5	UTSW	1	131,108,366 (GRCm39)	missense	probably benign	0.15
R8286:Rassf5	UTSW	1	131,140,067 (GRCm39)	missense	possibly damaging	0.73
R8706:Rassf5	UTSW	1	131,172,782 (GRCm39)	missense	probably benign	0.00
R8732:Rassf5	UTSW	1	131,106,264 (GRCm39)	makesense	probably null
R9023:Rassf5	UTSW	1	131,140,077 (GRCm39)	missense	probably benign	0.07
Z1176:Rassf5	UTSW	1	131,109,954 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTCAGTGGGCAGCCATTAAAG -3'
(R):5'- AGTCGCCGAGTCACTCCTAAATCC -3'

Sequencing Primer
(F):5'- GCTGTCTCCAAAGGTAACCTG -3'
(R):5'- TCCTAAATCCACGCGGCTC -3'

Posted On

2013-07-11