Mutagenetix > Incidental Mutation

Incidental Mutation 'R4372:Rin2'

326016

Institutional Source

Beutler Lab

Gene Symbol

Rin2

Ensembl Gene

ENSMUSG00000001768

Gene Name

Ras and Rab interactor 2

Synonyms

2010003K16Rik, RASSF4, 4632403N06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R4372 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145613647-145729536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 145702366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 354 (T354I)

Ref Sequence

ENSEMBL: ENSMUSP00000105632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094480] [ENSMUST00000110005] [ENSMUST00000147976]

AlphaFold

Q9D684

Predicted Effect

probably benign
Transcript: ENSMUST00000094480
AA Change: T309I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000092053
Gene: ENSMUSG00000001768
AA Change: T309I

Domain	Start	End	E-Value	Type
SH2	50	136	1.38e-3	SMART
low complexity region	175	187	N/A	INTRINSIC
low complexity region	258	269	N/A	INTRINSIC
low complexity region	335	352	N/A	INTRINSIC
low complexity region	375	385	N/A	INTRINSIC
low complexity region	393	411	N/A	INTRINSIC
Blast:SH2	540	576	2e-7	BLAST
VPS9	612	730	1.72e-68	SMART
RA	751	842	3.35e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110005
AA Change: T354I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105632
Gene: ENSMUSG00000001768
AA Change: T354I

Domain	Start	End	E-Value	Type
SH2	95	181	1.38e-3	SMART
low complexity region	220	232	N/A	INTRINSIC
low complexity region	303	314	N/A	INTRINSIC
low complexity region	380	397	N/A	INTRINSIC
low complexity region	420	430	N/A	INTRINSIC
low complexity region	438	456	N/A	INTRINSIC
Blast:SH2	585	621	2e-7	BLAST
VPS9	657	775	1.72e-68	SMART
RA	796	887	3.35e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145874

Predicted Effect

probably benign
Transcript: ENSMUST00000147976

Meta Mutation Damage Score

0.0630

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]

Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	T	C	11: 106,919,293 (GRCm39)	Y213H	probably damaging	Het
Alg5	T	C	3: 54,646,376 (GRCm39)		probably null	Het
Bend7	A	T	2: 4,754,421 (GRCm39)	I175F	probably damaging	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dnah1	C	T	14: 31,026,879 (GRCm39)	R715H	probably damaging	Het
Ipp	T	A	4: 116,372,560 (GRCm39)	D196E	possibly damaging	Het
Kcna5	A	G	6: 126,510,320 (GRCm39)	*603Q	probably null	Het
Kdm3b	A	G	18: 34,960,497 (GRCm39)	T1161A	probably benign	Het
Kif20a	A	T	18: 34,762,531 (GRCm39)	Q468L	probably damaging	Het
Map7d2	A	G	X: 158,273,680 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,743,809 (GRCm39)	E4015G	probably benign	Het
Mri1	A	G	8: 84,980,554 (GRCm39)	V296A	probably benign	Het
Mtmr7	A	G	8: 41,007,386 (GRCm39)	S516P	probably damaging	Het
Pcdhb10	T	C	18: 37,546,366 (GRCm39)	S481P	possibly damaging	Het
Pip4p2	C	T	4: 14,912,463 (GRCm39)	R191C	probably damaging	Het
Pklr	C	T	3: 89,052,830 (GRCm39)	R528*	probably null	Het
Samsn1	G	A	16: 75,656,344 (GRCm39)	T368I	possibly damaging	Het
Sema4d	T	C	13: 51,866,767 (GRCm39)	E241G	probably damaging	Het
Shank2	G	A	7: 143,964,599 (GRCm39)	G729R	probably benign	Het
Slc35b2	G	A	17: 45,877,355 (GRCm39)	V161M	probably benign	Het
Vmn2r53	A	G	7: 12,315,656 (GRCm39)	V721A	probably damaging	Het
Wdr17	T	A	8: 55,092,930 (GRCm39)	Y1076F	probably damaging	Het
Wdr75	T	C	1: 45,845,833 (GRCm39)		probably benign	Het
Zhx2	A	G	15: 57,686,697 (GRCm39)	S689G	probably benign	Het

Other mutations in Rin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02928:Rin2	APN	2	145,701,926 (GRCm39)	splice site	probably benign
IGL03222:Rin2	APN	2	145,702,115 (GRCm39)	nonsense	probably null
IGL03371:Rin2	APN	2	145,727,846 (GRCm39)	utr 3 prime	probably benign
IGL03411:Rin2	APN	2	145,702,864 (GRCm39)	missense	probably damaging	0.99
D4043:Rin2	UTSW	2	145,664,283 (GRCm39)	missense	possibly damaging	0.61
R0025:Rin2	UTSW	2	145,720,752 (GRCm39)	splice site	probably benign
R0110:Rin2	UTSW	2	145,702,953 (GRCm39)	missense	probably benign
R0144:Rin2	UTSW	2	145,718,559 (GRCm39)	missense	probably damaging	0.96
R0510:Rin2	UTSW	2	145,702,953 (GRCm39)	missense	probably benign
R1326:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R1327:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R1328:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R1329:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R1330:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R1544:Rin2	UTSW	2	145,700,366 (GRCm39)	missense	probably damaging	1.00
R1658:Rin2	UTSW	2	145,718,376 (GRCm39)	missense	probably benign	0.04
R1832:Rin2	UTSW	2	145,703,091 (GRCm39)	missense	possibly damaging	0.48
R1986:Rin2	UTSW	2	145,720,860 (GRCm39)	missense	probably damaging	1.00
R2137:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R2167:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R2170:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R2260:Rin2	UTSW	2	145,720,824 (GRCm39)	missense	probably damaging	0.97
R2312:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R2884:Rin2	UTSW	2	145,702,911 (GRCm39)	missense	probably benign	0.07
R3155:Rin2	UTSW	2	145,702,771 (GRCm39)	missense	probably benign	0.17
R3771:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R3772:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R3773:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R3822:Rin2	UTSW	2	145,664,550 (GRCm39)	missense	probably benign	0.02
R3824:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R3825:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R3885:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R3893:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R3939:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R3940:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R4012:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R4019:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R4058:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R4214:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R4231:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R4232:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R4236:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R4410:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R4415:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R4471:Rin2	UTSW	2	145,702,366 (GRCm39)	missense	probably benign	0.00
R4490:Rin2	UTSW	2	145,664,194 (GRCm39)	missense	possibly damaging	0.66
R4597:Rin2	UTSW	2	145,702,825 (GRCm39)	missense	probably benign	0.01
R5099:Rin2	UTSW	2	145,720,821 (GRCm39)	missense	probably damaging	1.00
R5268:Rin2	UTSW	2	145,686,680 (GRCm39)	missense	probably benign
R5493:Rin2	UTSW	2	145,702,629 (GRCm39)	missense	probably damaging	1.00
R5622:Rin2	UTSW	2	145,702,299 (GRCm39)	missense	probably benign	0.07
R5947:Rin2	UTSW	2	145,686,863 (GRCm39)	intron	probably benign
R6280:Rin2	UTSW	2	145,702,939 (GRCm39)	missense	probably damaging	1.00
R7009:Rin2	UTSW	2	145,725,395 (GRCm39)	missense	probably damaging	1.00
R7531:Rin2	UTSW	2	145,700,419 (GRCm39)	missense	probably benign
R7824:Rin2	UTSW	2	145,703,037 (GRCm39)	missense	probably benign	0.00
R8065:Rin2	UTSW	2	145,702,977 (GRCm39)	missense	probably damaging	0.99
R8067:Rin2	UTSW	2	145,702,977 (GRCm39)	missense	probably damaging	0.99
R8144:Rin2	UTSW	2	145,664,225 (GRCm39)	missense	probably benign
R8510:Rin2	UTSW	2	145,727,611 (GRCm39)	missense	probably damaging	1.00
R8853:Rin2	UTSW	2	145,718,475 (GRCm39)	missense	possibly damaging	0.68
R8880:Rin2	UTSW	2	145,690,772 (GRCm39)	missense	probably damaging	1.00
R9224:Rin2	UTSW	2	145,720,822 (GRCm39)	nonsense	probably null
R9325:Rin2	UTSW	2	145,727,819 (GRCm39)	missense	probably benign	0.15
R9417:Rin2	UTSW	2	145,686,713 (GRCm39)	missense	probably benign	0.02
R9555:Rin2	UTSW	2	145,718,415 (GRCm39)	nonsense	probably null
R9631:Rin2	UTSW	2	145,718,437 (GRCm39)	missense	probably damaging	1.00
R9667:Rin2	UTSW	2	145,702,202 (GRCm39)	missense	possibly damaging	0.89
R9691:Rin2	UTSW	2	145,690,764 (GRCm39)	missense	probably damaging	0.97
R9727:Rin2	UTSW	2	145,702,506 (GRCm39)	missense	possibly damaging	0.94
R9780:Rin2	UTSW	2	145,718,551 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGAAAGTGCACAGCCAGG -3'
(R):5'- AAAGGCTCATGTCGCTCAGC -3'

Sequencing Primer
(F):5'- AGGACTCCCAACGCGAATGG -3'
(R):5'- TGTGATTCAGAGCCGGGC -3'

Posted On

2015-07-06