Mutagenetix > Incidental Mutation

Incidental Mutation 'R7910:Rassf5'

610407

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

045959-MU

Accession Numbers

Essential gene?

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

Stock #

R7910 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131104147-131172915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131108366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 338 (Y338F)

Ref Sequence

ENSEMBL: ENSMUSP00000027688 (fasta)

Gene Model

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

AlphaFold

Q5EBH1

PDB Structure

Solution structure of the C1 domain of Nore1, a novel Ras effector [SOLUTION NMR]
C1 domain of Nore1 [SOLUTION NMR]
Structure of the murine Nore1-Sarah domain [X-RAY DIFFRACTION]
Crystal Structure of NORE1A in Complex with RAS [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000027688
AA Change: Y338F

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027688
Gene: ENSMUSG00000026430
AA Change: Y338F

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: Y190F

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000067011
Gene: ENSMUSG00000026430
AA Change: Y190F

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

probably benign
Transcript: ENSMUST00000112442
AA Change: T306S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000108061
Gene: ENSMUSG00000026430
AA Change: T306S

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 damaging
Transcript: ENSMUST00000212202
AA Change: Y238F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	A	T	6: 65,930,289 (GRCm39)	T175S	probably benign	Het
Abca13	A	G	11: 9,531,590 (GRCm39)	I4606V	probably damaging	Het
Abca3	G	A	17: 24,604,827 (GRCm39)	V645I	probably benign	Het
Abi3bp	A	T	16: 56,498,105 (GRCm39)	R980*	probably null	Het
Acsl6	G	T	11: 54,236,797 (GRCm39)	G564*	probably null	Het
Alppl2	T	C	1: 87,015,159 (GRCm39)	E430G	probably benign	Het
Anks1b	A	G	10: 90,516,654 (GRCm39)	Y883C	probably damaging	Het
Atp11b	T	C	3: 35,885,652 (GRCm39)	F882L	possibly damaging	Het
Atrn	T	A	2: 130,806,807 (GRCm39)	H609Q	probably benign	Het
Bcl2l13	A	T	6: 120,842,646 (GRCm39)	K113M	possibly damaging	Het
Brinp2	T	A	1: 158,074,450 (GRCm39)	N557I	probably damaging	Het
C4b	A	G	17: 34,959,326 (GRCm39)	L416P	probably benign	Het
Ccdc125	T	A	13: 100,819,327 (GRCm39)	I163K	possibly damaging	Het
Ccdc136	T	G	6: 29,420,033 (GRCm39)	D1075E	probably benign	Het
Cdc45	T	A	16: 18,629,203 (GRCm39)	Y47F	probably damaging	Het
Cdk10	T	C	8: 123,953,105 (GRCm39)	V36A	probably damaging	Het
Ciz1	T	A	2: 32,260,139 (GRCm39)		probably null	Het
Clasp1	T	G	1: 118,530,144 (GRCm39)	L1502*	probably null	Het
Crtc1	G	T	8: 70,840,251 (GRCm39)	Q541K	probably benign	Het
Ddx5	G	T	11: 106,675,261 (GRCm39)	T358N	probably damaging	Het
Ehbp1l1	A	T	19: 5,766,452 (GRCm39)	V1297E	probably benign	Het
Eif2d	C	A	1: 131,082,950 (GRCm39)	T98K	probably damaging	Het
Ezh2	T	C	6: 47,533,077 (GRCm39)	D124G	probably damaging	Het
Gamt	T	G	10: 80,094,243 (GRCm39)	I223L	possibly damaging	Het
Gbp7	T	C	3: 142,240,402 (GRCm39)	V40A	probably damaging	Het
Gm11992	A	G	11: 8,999,165 (GRCm39)	E7G	probably damaging	Het
Gml2	A	G	15: 74,692,379 (GRCm39)		probably null	Het
Grem2	A	G	1: 174,664,813 (GRCm39)	V12A	probably benign	Het
Gsta1	T	A	9: 78,139,577 (GRCm39)	I19N	probably damaging	Het
Gstt2	T	C	10: 75,667,736 (GRCm39)	I240V	probably benign	Het
Hectd4	T	C	5: 121,392,291 (GRCm39)	L185S	possibly damaging	Het
Hsd3b7	G	A	7: 127,400,419 (GRCm39)		probably null	Het
Ift22	T	A	5: 136,940,638 (GRCm39)	M101K	probably benign	Het
Irs1	A	G	1: 82,267,802 (GRCm39)	V138A	probably benign	Het
Ky	A	G	9: 102,419,141 (GRCm39)	M383V	possibly damaging	Het
Lama4	A	G	10: 38,946,005 (GRCm39)	E796G	probably damaging	Het
Lcp2	A	G	11: 34,038,061 (GRCm39)	Y426C	probably damaging	Het
Lig3	A	G	11: 82,688,601 (GRCm39)	D755G	probably damaging	Het
Lrrc43	A	G	5: 123,639,084 (GRCm39)	D371G	probably benign	Het
Lrrc43	T	A	5: 123,630,470 (GRCm39)	I111N	probably damaging	Het
Lrrc74b	C	A	16: 17,376,213 (GRCm39)	G146*	probably null	Het
Lrrfip1	A	G	1: 91,047,874 (GRCm39)	K479E	possibly damaging	Het
Lrriq1	C	A	10: 103,051,055 (GRCm39)	E566*	probably null	Het
Mlxipl	C	T	5: 135,161,263 (GRCm39)	A394V	possibly damaging	Het
Myh14	T	C	7: 44,281,819 (GRCm39)	Y813C	probably damaging	Het
Nat10	T	A	2: 103,555,490 (GRCm39)	E943D	probably benign	Het
Nectin2	T	A	7: 19,466,912 (GRCm39)	K226*	probably null	Het
Nlrc5	T	G	8: 95,219,720 (GRCm39)	S1103R	probably benign	Het
Nr4a1	T	A	15: 101,169,641 (GRCm39)	Y304N	probably damaging	Het
Ntpcr	T	C	8: 126,474,483 (GRCm39)	V184A	probably benign	Het
Or1j13	T	A	2: 36,369,345 (GRCm39)	N266Y	probably damaging	Het
Or5p73	T	C	7: 108,064,978 (GRCm39)	V149A	probably benign	Het
Or5t18	A	G	2: 86,637,191 (GRCm39)	S51P	probably benign	Het
Oxr1	A	C	15: 41,517,030 (GRCm39)	S65R	possibly damaging	Het
Pcdhb19	A	T	18: 37,630,720 (GRCm39)	I172L	probably benign	Het
Pds5a	A	T	5: 65,795,925 (GRCm39)	I655N	possibly damaging	Het
Pik3cg	T	C	12: 32,250,516 (GRCm39)	Y757C	probably benign	Het
Plekha5	C	A	6: 140,472,184 (GRCm39)	T37N	possibly damaging	Het
Ppp4r1	C	T	17: 66,136,394 (GRCm39)	A534V	probably damaging	Het
Ppp4r1	T	A	17: 66,118,298 (GRCm39)	F167I	probably benign	Het
Ppt2	T	A	17: 34,846,300 (GRCm39)		probably null	Het
Prrt2	A	T	7: 126,619,219 (GRCm39)	V82D	possibly damaging	Het
Rbbp6	G	A	7: 122,596,251 (GRCm39)	V560I	possibly damaging	Het
Rcbtb1	T	C	14: 59,474,127 (GRCm39)	M90T	unknown	Het
Rif1	T	A	2: 51,968,399 (GRCm39)	L194*	probably null	Het
Rybp	A	T	6: 100,209,879 (GRCm39)	I128K	possibly damaging	Het
Samm50	T	G	15: 84,098,346 (GRCm39)	F462V	possibly damaging	Het
Slain1	T	C	14: 103,923,200 (GRCm39)	Y264H	probably damaging	Het
Slc29a4	C	T	5: 142,691,156 (GRCm39)	P12L	probably benign	Het
Slc6a2	T	C	8: 93,720,766 (GRCm39)	I461T	possibly damaging	Het
Soat2	A	G	15: 102,069,106 (GRCm39)	D377G	probably damaging	Het
Spocd1	A	G	4: 129,823,893 (GRCm39)	E230G		Het
Tbc1d30	T	A	10: 121,183,061 (GRCm39)	K126*	probably null	Het
Tgfbi	T	A	13: 56,779,997 (GRCm39)	F515L	probably damaging	Het
Utf1	A	G	7: 139,524,704 (GRCm39)		probably benign	Het
Vmn1r206	G	T	13: 22,804,471 (GRCm39)	Y245*	probably null	Het
Vmn1r87	T	A	7: 12,865,832 (GRCm39)	S152C	probably damaging	Het
Zfc3h1	C	A	10: 115,256,588 (GRCm39)	Y1519*	probably null	Het
Zfp248	A	T	6: 118,407,103 (GRCm39)	L162H	possibly damaging	Het
Zfp804a	T	A	2: 82,086,917 (GRCm39)	F249I	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
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
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'- ATGCTGAGCCTCTGGAAGTC -3'
(R):5'- GTAGTGCCTCTCAAATGGCAG -3'

Sequencing Primer
(F):5'- AGCCTCTGGAAGTCCTGCTG -3'
(R):5'- TGCCTCTCAAATGGCAGGAATG -3'

Posted On

2019-12-20