Mutagenetix > Incidental Mutation

Incidental Mutation 'R0335:Rabl2'

26226

Institutional Source

Beutler Lab

Gene Symbol

Rabl2

Ensembl Gene

ENSMUSG00000022621

Gene Name

RAB, member RAS oncogene family-like 2

Synonyms

Rabl2a, 1110031N17Rik

MMRRC Submission

038544-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0335 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89466736-89476126 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89468169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 66 (K66E)

Ref Sequence

ENSEMBL: ENSMUSP00000091598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023294] [ENSMUST00000094056] [ENSMUST00000169466] [ENSMUST00000170126] [ENSMUST00000171580] [ENSMUST00000172053]

AlphaFold

E9Q9D5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023294
AA Change: K151E

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023294
Gene: ENSMUSG00000022621
AA Change: K151E

Domain	Start	End	E-Value	Type
Pfam:Arf	10	196	2.3e-12	PFAM
Pfam:MMR_HSR1	23	134	1.4e-6	PFAM
Pfam:Roc	23	137	2e-35	PFAM
Pfam:Gtr1_RagA	23	171	9e-8	PFAM
Pfam:Ras	23	180	3.8e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000094056
AA Change: K66E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091598
Gene: ENSMUSG00000022621
AA Change: K66E

Domain	Start	End	E-Value	Type
Blast:RAB	50	94	4e-10	BLAST
SCOP:d3raba_	57	91	1e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165747

Predicted Effect

unknown
Transcript: ENSMUST00000169466
AA Change: E50G

SMART Domains

Protein: ENSMUSP00000129660
Gene: ENSMUSG00000022621
AA Change: E50G

Domain	Start	End	E-Value	Type
SCOP:d1ek0a_	21	53	8e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170126

SMART Domains

Protein: ENSMUSP00000126182
Gene: ENSMUSG00000022621

Domain	Start	End	E-Value	Type
Pfam:Ras	23	74	1.2e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171142

Predicted Effect

probably benign
Transcript: ENSMUST00000171826
AA Change: K27E

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

SMART Domains

Protein: ENSMUSP00000129221
Gene: ENSMUSG00000022621
AA Change: K27E

Domain	Start	End	E-Value	Type
Blast:RAB	2	49	7e-16	BLAST
SCOP:d1fzqa_	3	49	5e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172074

Predicted Effect

probably benign
Transcript: ENSMUST00000171580

SMART Domains

Protein: ENSMUSP00000128799
Gene: ENSMUSG00000022621

Domain	Start	End	E-Value	Type
SCOP:d1ek0a_	21	38	7e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172053

SMART Domains

Protein: ENSMUSP00000129253
Gene: ENSMUSG00000022621

Domain	Start	End	E-Value	Type
Pfam:Arf	10	100	6.5e-9	PFAM
Pfam:Miro	23	102	1.7e-11	PFAM
Pfam:Ras	23	102	4.5e-24	PFAM

Meta Mutation Damage Score

0.1446

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.6%
20x: 87.5%

Validation Efficiency

100% (89/89)

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 RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility, reduced testis weight, oligospermia, asthenozoospermia and short flagellum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	G	T	15: 11,311,144 (GRCm39)	D1134Y	possibly damaging	Het
Add3	A	G	19: 53,225,259 (GRCm39)	T460A	probably benign	Het
Amer3	A	C	1: 34,618,381 (GRCm39)		probably benign	Het
Arhgap22	C	T	14: 33,081,065 (GRCm39)		probably benign	Het
Arhgap32	T	G	9: 32,171,056 (GRCm39)	S1279A	probably benign	Het
Bcas1	G	A	2: 170,260,601 (GRCm39)	T26M	probably damaging	Het
Begain	A	T	12: 109,004,860 (GRCm39)	F256I	probably damaging	Het
Bltp1	T	C	3: 37,023,301 (GRCm39)	V2210A	probably damaging	Het
Cabin1	A	T	10: 75,492,883 (GRCm39)	I1804N	probably damaging	Het
Cad	G	A	5: 31,231,329 (GRCm39)		probably benign	Het
Carmil1	G	A	13: 24,257,966 (GRCm39)	S762L	probably damaging	Het
Ccdc93	T	A	1: 121,420,706 (GRCm39)	L529Q	probably damaging	Het
Cdh12	T	A	15: 21,578,635 (GRCm39)		probably null	Het
Cep15	A	G	14: 12,301,266 (GRCm38)	E124G	possibly damaging	Het
Clip2	T	A	5: 134,564,069 (GRCm39)		probably benign	Het
Cmip	T	C	8: 118,172,105 (GRCm39)	I480T	probably damaging	Het
Cnot1	A	T	8: 96,498,628 (GRCm39)	I203K	probably benign	Het
Col18a1	G	A	10: 76,895,197 (GRCm39)	P1155S	probably damaging	Het
Col1a2	T	A	6: 4,531,956 (GRCm39)		probably benign	Het
Crybg3	A	T	16: 59,364,503 (GRCm39)	L2373Q	probably damaging	Het
D130043K22Rik	A	T	13: 25,071,860 (GRCm39)	I935F	probably damaging	Het
Dapl1	T	A	2: 59,326,938 (GRCm39)	D61E	possibly damaging	Het
Def6	A	G	17: 28,447,043 (GRCm39)	D558G	possibly damaging	Het
Dnah6	T	C	6: 73,046,382 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,891,861 (GRCm39)		probably benign	Het
Ecd	A	C	14: 20,370,802 (GRCm39)	V639G	probably benign	Het
Epg5	C	T	18: 78,029,687 (GRCm39)	T1350M	probably benign	Het
Erbb4	C	A	1: 68,298,418 (GRCm39)	M657I	probably benign	Het
Evi5	T	C	5: 107,960,277 (GRCm39)	R431G	probably benign	Het
Fbxo11	G	A	17: 88,323,041 (GRCm39)	A115V	possibly damaging	Het
Fgfr2	T	C	7: 129,797,979 (GRCm39)	T192A	probably benign	Het
Gas7	C	T	11: 67,552,878 (GRCm39)	A146V	possibly damaging	Het
Gatad2b	T	A	3: 90,263,489 (GRCm39)	S529T	probably benign	Het
Gm10722	G	T	9: 3,001,048 (GRCm39)	Q41H	probably null	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm7535	A	G	17: 18,131,374 (GRCm39)		probably benign	Het
Gstm1	T	A	3: 107,920,012 (GRCm39)	N193I	possibly damaging	Het
Heatr5b	G	A	17: 79,135,375 (GRCm39)	P252L	probably benign	Het
Hmgb1	A	G	5: 148,987,441 (GRCm39)	V36A	probably benign	Het
Hrh1	G	T	6: 114,457,193 (GRCm39)	W158L	probably damaging	Het
Ighv6-4	T	C	12: 114,370,294 (GRCm39)	M53V	probably benign	Het
Iqgap2	T	A	13: 95,772,141 (GRCm39)	D1346V	probably damaging	Het
Kcng3	A	T	17: 83,895,166 (GRCm39)	N433K	possibly damaging	Het
Kif1a	T	A	1: 92,980,288 (GRCm39)		probably benign	Het
Lctl	C	A	9: 64,026,169 (GRCm39)	Q75K	probably benign	Het
Ldb3	T	A	14: 34,300,608 (GRCm39)	I89F	possibly damaging	Het
Lrrc49	A	T	9: 60,584,378 (GRCm39)	L156Q	probably damaging	Het
Mark2	G	T	19: 7,259,193 (GRCm39)	T83K	probably benign	Het
Ms4a15	A	T	19: 10,957,574 (GRCm39)	D170E	probably damaging	Het
Msantd2	A	G	9: 37,434,056 (GRCm39)	S99G	possibly damaging	Het
Nemf	G	T	12: 69,400,577 (GRCm39)	T124N	probably benign	Het
Nlrp9c	A	T	7: 26,093,561 (GRCm39)	F35I	possibly damaging	Het
Nwd2	A	G	5: 63,962,116 (GRCm39)	I567V	probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or11l3	T	C	11: 58,516,566 (GRCm39)	Y102C	probably damaging	Het
Or13p8	A	G	4: 118,584,367 (GRCm39)	I308V	probably null	Het
Or5v1b	A	C	17: 37,841,533 (GRCm39)	I222L	probably benign	Het
Or7g16	T	A	9: 18,727,290 (GRCm39)	Q100L	probably damaging	Het
Pdk4	T	C	6: 5,491,138 (GRCm39)	E209G	probably benign	Het
Plch1	T	C	3: 63,618,399 (GRCm39)	Q712R	probably damaging	Het
Pnpla1	T	A	17: 29,105,852 (GRCm39)	V569E	possibly damaging	Het
Prkar2a	A	T	9: 108,596,457 (GRCm39)	D134V	probably damaging	Het
Ptov1	T	A	7: 44,514,046 (GRCm39)	Q40L	possibly damaging	Het
Ptprq	T	C	10: 107,544,589 (GRCm39)	I314V	probably benign	Het
Rnf38	A	G	4: 44,152,507 (GRCm39)	V19A	possibly damaging	Het
Scn2a	T	A	2: 65,512,435 (GRCm39)	W191R	probably damaging	Het
Sec22b	T	A	3: 97,828,572 (GRCm39)	F212I	possibly damaging	Het
Sec24c	T	A	14: 20,738,783 (GRCm39)		probably null	Het
Septin2	T	C	1: 93,423,321 (GRCm39)	S51P	probably damaging	Het
Serpinb1a	T	C	13: 33,032,639 (GRCm39)	N90S	probably damaging	Het
Slc1a2	C	T	2: 102,574,208 (GRCm39)	T206I	probably benign	Het
Slc25a19	C	A	11: 115,515,032 (GRCm39)	R42L	probably damaging	Het
St14	G	A	9: 31,002,620 (GRCm39)		probably benign	Het
Stxbp1	C	T	2: 32,692,917 (GRCm39)		probably benign	Het
Tas2r131	C	T	6: 132,934,792 (GRCm39)	V6I	probably benign	Het
Tdo2	T	A	3: 81,871,307 (GRCm39)	M235L	probably benign	Het
Tenm3	T	G	8: 48,685,140 (GRCm39)	H2432P	probably damaging	Het
Tmprss15	C	T	16: 78,821,630 (GRCm39)		probably benign	Het
Tmx1	A	G	12: 70,500,030 (GRCm39)	N30D	probably benign	Het
Tom1	A	G	8: 75,791,020 (GRCm39)		probably null	Het
Top2a	T	C	11: 98,913,781 (GRCm39)	N20S	probably benign	Het
Ttc23l	T	A	15: 10,540,049 (GRCm39)	T145S	probably benign	Het
Unc13b	T	A	4: 43,236,983 (GRCm39)	M3351K	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,641 (GRCm39)	S258P	probably damaging	Het
Vmn2r8	T	G	5: 108,945,317 (GRCm39)		probably null	Het
Vps11	T	C	9: 44,265,135 (GRCm39)	Q641R	probably null	Het
Wapl	T	A	14: 34,414,281 (GRCm39)	I381N	probably damaging	Het
Zmym6	G	A	4: 127,016,601 (GRCm39)	G794E	probably damaging	Het

Other mutations in Rabl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Rabl2	APN	15	89,474,473 (GRCm39)	splice site	probably benign
IGL01612:Rabl2	APN	15	89,467,615 (GRCm39)	missense	probably benign	0.05
IGL02317:Rabl2	APN	15	89,468,492 (GRCm39)	missense	probably damaging	1.00
R4169:Rabl2	UTSW	15	89,474,582 (GRCm39)	start codon destroyed	probably null	0.98
R4276:Rabl2	UTSW	15	89,468,391 (GRCm39)	intron	probably benign
R4330:Rabl2	UTSW	15	89,471,137 (GRCm39)	missense	probably benign	0.09
R5657:Rabl2	UTSW	15	89,472,416 (GRCm39)	missense	probably benign	0.00
R6242:Rabl2	UTSW	15	89,468,555 (GRCm39)	missense	probably benign
R9445:Rabl2	UTSW	15	89,468,148 (GRCm39)	missense	probably damaging	1.00
R9513:Rabl2	UTSW	15	89,474,631 (GRCm39)	critical splice acceptor site	probably null
R9516:Rabl2	UTSW	15	89,474,631 (GRCm39)	critical splice acceptor site	probably null
X0023:Rabl2	UTSW	15	89,468,183 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CCCCAGCTTTATAACCAGCAGTCTC -3'
(R):5'- CAAAGAATGGCCCACCTTTGTTTCC -3'

Sequencing Primer
(F):5'- TTTATAACCAGCAGTCTCACCCC -3'
(R):5'- CAAGATGCTCCCTTTCTAGTAGG -3'

Posted On

2013-04-16