Mutagenetix > Incidental Mutation

Incidental Mutation 'R5354:Rassf5'

423942

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

042933-MU

Accession Numbers

Essential gene?

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

Stock #

R5354 (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 131108385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 232 (I232V)

Ref Sequence

ENSEMBL: ENSMUSP00000148646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027688] [ENSMUST00000068564] [ENSMUST00000068791] [ENSMUST00000112442] [ENSMUST00000131855] [ENSMUST00000151874] [ENSMUST00000212202]

AlphaFold

Q5EBH1

Predicted Effect

probably benign
Transcript: ENSMUST00000027688
AA Change: I332V

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

SMART Domains

Protein: ENSMUSP00000027688
Gene: ENSMUSG00000026430
AA Change: I332V

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 benign
Transcript: ENSMUST00000068564
AA Change: I184V

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

SMART Domains

Protein: ENSMUSP00000067011
Gene: ENSMUSG00000026430
AA Change: I184V

Domain	Start	End	E-Value	Type
RA	119	211	1.07e-22	SMART
PDB:4LGD\|H	212	260	5e-25	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000068791

SMART Domains

Protein: ENSMUSP00000067461
Gene: ENSMUSG00000026427

Domain	Start	End	E-Value	Type
PUA	99	173	1.07e-5	SMART
low complexity region	297	306	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000112442

SMART Domains

Protein: ENSMUSP00000108061
Gene: ENSMUSG00000026430

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

probably benign
Transcript: ENSMUST00000131855

SMART Domains

Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427

Domain	Start	End	E-Value	Type
PUA	99	173	1.07e-5	SMART
low complexity region	297	306	N/A	INTRINSIC
Pfam:SUI1	472	554	8.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151874

SMART Domains

Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427

Domain	Start	End	E-Value	Type
PUA	99	173	1.07e-5	SMART
low complexity region	297	306	N/A	INTRINSIC
Pfam:SUI1	472	556	1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212202
AA Change: I232V

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

Meta Mutation Damage Score

0.1025

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (80/80)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	G	16: 14,436,535 (GRCm39)	K196R	probably benign	Het
Ablim1	T	C	19: 57,119,355 (GRCm39)	E243G	probably benign	Het
Acat1	T	A	9: 53,500,483 (GRCm39)	E271V	possibly damaging	Het
Aco1	T	C	4: 40,180,290 (GRCm39)		probably null	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Agbl3	T	A	6: 34,791,687 (GRCm39)	H596Q	probably benign	Het
Anxa7	A	G	14: 20,514,977 (GRCm39)	L177P	possibly damaging	Het
Atp11a	A	T	8: 12,856,753 (GRCm39)	N48I	probably damaging	Het
Bcas1	T	A	2: 170,191,316 (GRCm39)	N492I	possibly damaging	Het
Bclaf1	A	G	10: 20,209,278 (GRCm39)	Y498C	probably damaging	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Ccdc170	G	A	10: 4,484,188 (GRCm39)	C338Y	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Ckap2	A	C	8: 22,667,581 (GRCm39)	N93K	probably damaging	Het
Clca3a1	A	T	3: 144,442,766 (GRCm39)	S759R	possibly damaging	Het
Coro1c	A	T	5: 113,984,226 (GRCm39)	I347N	possibly damaging	Het
Cpox	A	G	16: 58,491,205 (GRCm39)	T139A	probably damaging	Het
Cyp4a12b	C	A	4: 115,290,661 (GRCm39)		probably null	Het
Dctn1	T	G	6: 83,160,108 (GRCm39)	V116G	possibly damaging	Het
Dhx38	A	G	8: 110,282,378 (GRCm39)	V683A	probably damaging	Het
Dnah12	G	A	14: 26,496,299 (GRCm39)		probably null	Het
Dnajb7	T	C	15: 81,292,208 (GRCm39)	E43G	probably damaging	Het
Dsc1	A	T	18: 20,220,632 (GRCm39)	V714E	probably damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
Egfem1	T	C	3: 29,136,361 (GRCm39)		probably null	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmo1	T	C	1: 162,657,714 (GRCm39)	T476A	probably benign	Het
Gm10237	T	C	16: 35,741,099 (GRCm39)		noncoding transcript	Het
Gm14496	A	G	2: 181,642,602 (GRCm39)	S758G	probably damaging	Het
Gpat2	T	A	2: 127,270,643 (GRCm39)	L97Q	probably damaging	Het
Gpr162	T	C	6: 124,836,600 (GRCm39)	D357G	probably benign	Het
Hax1	A	T	3: 89,905,262 (GRCm39)	D34E	probably damaging	Het
Hmgcr	C	T	13: 96,791,404 (GRCm39)	V97M	probably benign	Het
Hsd3b2	T	C	3: 98,619,631 (GRCm39)	T105A	probably benign	Het
Ints1	A	G	5: 139,752,183 (GRCm39)		probably null	Het
Islr	T	C	9: 58,064,895 (GRCm39)	E204G	probably damaging	Het
Lrrc36	A	G	8: 106,151,996 (GRCm39)	N60D	probably damaging	Het
Maf1	T	C	15: 76,237,330 (GRCm39)		probably benign	Het
Mrgprb4	T	A	7: 47,848,077 (GRCm39)	R284W	probably benign	Het
Myh4	A	T	11: 67,146,551 (GRCm39)	N1508I	possibly damaging	Het
Nufip2	A	G	11: 77,577,103 (GRCm39)	H17R	unknown	Het
Oasl1	A	T	5: 115,075,055 (GRCm39)	I372L	probably damaging	Het
Or5ae1	T	A	7: 84,565,357 (GRCm39)	Y123*	probably null	Het
Or6p1	T	C	1: 174,258,252 (GRCm39)	L86P	probably damaging	Het
Pald1	A	T	10: 61,184,440 (GRCm39)	Y226N	probably damaging	Het
Pcdhb13	G	T	18: 37,577,844 (GRCm39)	G741C	probably damaging	Het
Pcdhga10	A	G	18: 37,881,259 (GRCm39)	D340G	probably damaging	Het
Pclo	C	A	5: 14,728,822 (GRCm39)		probably benign	Het
Pcsk4	G	T	10: 80,159,523 (GRCm39)	N416K	probably damaging	Het
Pde10a	C	A	17: 9,180,812 (GRCm39)	R398S	probably damaging	Het
Plin1	T	A	7: 79,375,469 (GRCm39)	T227S	possibly damaging	Het
Pnpt1	A	G	11: 29,104,166 (GRCm39)	D542G	probably damaging	Het
Ppp4r3b	T	A	11: 29,161,646 (GRCm39)	D673E	probably benign	Het
Prr18	C	A	17: 8,559,892 (GRCm39)	P16Q	probably damaging	Het
Psmc3	T	A	2: 90,889,698 (GRCm39)	Y440N	probably damaging	Het
Rims1	T	A	1: 22,577,592 (GRCm39)	D218V	probably damaging	Het
Skint10	T	C	4: 112,568,790 (GRCm39)	N309S	possibly damaging	Het
Slc6a1	T	C	6: 114,279,584 (GRCm39)	M121T	possibly damaging	Het
Slit3	A	G	11: 35,566,740 (GRCm39)	D1004G	probably damaging	Het
Snap91	C	T	9: 86,717,177 (GRCm39)	V215I	possibly damaging	Het
Son	T	C	16: 91,452,627 (GRCm39)	L458S	probably damaging	Het
St18	C	T	1: 6,914,395 (GRCm39)	A782V	probably damaging	Het
Synpo	A	G	18: 60,735,303 (GRCm39)		probably null	Het
Thbs3	A	G	3: 89,128,684 (GRCm39)	D458G	probably damaging	Het
Tpr	C	T	1: 150,321,675 (GRCm39)	R3C	probably damaging	Het
Trp63	A	G	16: 25,503,105 (GRCm39)		probably null	Het
Vmn1r27	C	A	6: 58,192,581 (GRCm39)	R141L	probably benign	Het
Wnk1	T	C	6: 119,945,484 (GRCm39)	I699V	probably benign	Het
Xkr6	A	G	14: 64,056,353 (GRCm39)	D88G	possibly damaging	Het
Zan	A	G	5: 137,379,050 (GRCm39)		probably benign	Het
Zbtb7b	T	C	3: 89,286,913 (GRCm39)		probably benign	Het
Zfp618	A	T	4: 62,998,265 (GRCm39)	D33V	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
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
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'- AATGCTGAGCCTCTGGAAG -3'
(R):5'- TAGTGCCTCTCAAATGGCAGG -3'

Sequencing Primer
(F):5'- TGAGCCTCTGGAAGTCCTG -3'
(R):5'- CCTCTCAAATGGCAGGAATGG -3'

Posted On

2016-08-04