Mutagenetix > Incidental Mutation

Incidental Mutation 'R0634:Rassf5'

58121

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

038823-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R0634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131104147-131172915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131172693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 59 (R59G)

Ref Sequence

ENSEMBL: ENSMUSP00000108061 (fasta)

Gene Model

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

AlphaFold

Q5EBH1

Predicted Effect

probably benign
Transcript: ENSMUST00000027688
AA Change: R59G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027688
Gene: ENSMUSG00000026430
AA Change: R59G

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: R59G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108061
Gene: ENSMUSG00000026430
AA Change: R59G

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

0.0709

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,264,491 (GRCm39)	I2958V	possibly damaging	Het
Adam21	C	A	12: 81,607,126 (GRCm39)	W212L	probably benign	Het
Adcy2	A	C	13: 68,876,064 (GRCm39)	H479Q	possibly damaging	Het
Adcy4	T	C	14: 56,019,054 (GRCm39)	R168G	probably benign	Het
Adrm1b	C	T	3: 92,336,116 (GRCm39)	W125*	probably null	Het
Atp13a2	T	C	4: 140,734,240 (GRCm39)		probably benign	Het
C1ra	G	A	6: 124,494,464 (GRCm39)	E304K	possibly damaging	Het
Cc2d2a	A	C	5: 43,838,723 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,952,588 (GRCm39)	L1426P	probably damaging	Het
Cntn1	A	T	15: 92,212,444 (GRCm39)	R869*	probably null	Het
Creb3l2	A	T	6: 37,311,283 (GRCm39)		probably benign	Het
Crybg2	G	A	4: 133,802,615 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,276,405 (GRCm39)	F800I	probably damaging	Het
Dock6	G	A	9: 21,752,823 (GRCm39)	T330I	probably damaging	Het
Ets2	G	A	16: 95,517,200 (GRCm39)	E311K	possibly damaging	Het
Fbxo22	A	T	9: 55,122,244 (GRCm39)	Q141L	probably benign	Het
Fer	C	T	17: 64,342,503 (GRCm39)	T223M	probably benign	Het
Gtf3c1	A	T	7: 125,256,649 (GRCm39)		probably benign	Het
Gtf3c2	G	A	5: 31,317,150 (GRCm39)	R684*	probably null	Het
Hs6st3	T	A	14: 120,106,474 (GRCm39)	L294*	probably null	Het
Ighg2c	T	G	12: 113,251,584 (GRCm39)	E181A	unknown	Het
Igkv6-15	A	T	6: 70,383,763 (GRCm39)		probably benign	Het
Irag2	A	T	6: 145,120,354 (GRCm39)	H523L	probably damaging	Het
Map2k6	C	T	11: 110,385,169 (GRCm39)	R178*	probably null	Het
Meikin	T	A	11: 54,281,309 (GRCm39)	D126E	probably benign	Het
Mgst1	A	T	6: 138,133,329 (GRCm39)	T37S	probably damaging	Het
Mrc2	G	A	11: 105,238,518 (GRCm39)	V1222M	probably benign	Het
Myom2	C	A	8: 15,169,216 (GRCm39)		probably benign	Het
Negr1	A	G	3: 156,721,903 (GRCm39)	K159R	possibly damaging	Het
Nptx1	T	C	11: 119,434,127 (GRCm39)	T320A	possibly damaging	Het
Or12j3	A	T	7: 139,953,310 (GRCm39)	V71E	possibly damaging	Het
Or4p21	A	T	2: 88,276,961 (GRCm39)	M107K	probably benign	Het
Or5p66	T	C	7: 107,885,503 (GRCm39)	I277V	probably benign	Het
Pes1	C	T	11: 3,927,794 (GRCm39)		probably benign	Het
Pes1	T	G	11: 3,927,795 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,187,698 (GRCm39)	Y3537N	probably damaging	Het
Poteg	G	A	8: 27,963,615 (GRCm39)	G289R	probably benign	Het
Pramel29	A	G	4: 143,935,910 (GRCm39)		probably null	Het
Reln	A	T	5: 22,223,867 (GRCm39)	W961R	probably damaging	Het
Rhot2	G	A	17: 26,061,002 (GRCm39)	H168Y	possibly damaging	Het
Ripk3	G	T	14: 56,025,848 (GRCm39)		probably benign	Het
Samm50	A	G	15: 84,098,372 (GRCm39)		silent	Het
Sap30bp	T	C	11: 115,848,229 (GRCm39)	I117T	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Sipa1l2	A	T	8: 126,149,363 (GRCm39)	L1632*	probably null	Het
Sirt7	T	C	11: 120,512,955 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,976,934 (GRCm39)	T216A	possibly damaging	Het
Sox9	A	G	11: 112,675,768 (GRCm39)	Y319C	probably damaging	Het
Sspn	G	A	6: 145,906,877 (GRCm39)	A27T	possibly damaging	Het
Suco	A	G	1: 161,666,373 (GRCm39)	V509A	possibly damaging	Het
Svep1	C	T	4: 58,070,661 (GRCm39)	C2375Y	possibly damaging	Het
Trbv21	T	A	6: 41,179,984 (GRCm39)		probably benign	Het
Uimc1	C	T	13: 55,208,079 (GRCm39)	E455K	possibly damaging	Het
Upk3b	A	G	5: 136,068,930 (GRCm39)	T100A	possibly damaging	Het
Usp47	A	G	7: 111,707,862 (GRCm39)	N1303D	probably damaging	Het
Vav1	A	T	17: 57,610,862 (GRCm39)	D476V	probably benign	Het
Vmn1r68	A	G	7: 10,261,162 (GRCm39)	V312A	probably benign	Het
Wdr62	A	G	7: 29,969,599 (GRCm39)	V287A	probably damaging	Het
Zcchc4	C	T	5: 52,940,550 (GRCm39)	P40S	probably benign	Het
Zfp326	T	A	5: 106,034,069 (GRCm39)	Y26*	probably null	Het
Zfp592	A	G	7: 80,687,819 (GRCm39)	H915R	probably damaging	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
R0589:Rassf5	UTSW	1	131,172,720 (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