Mutagenetix > Incidental Mutation

Incidental Mutation 'R5099:Rin2'

388166

Institutional Source

Beutler Lab

Gene Symbol

Rin2

Ensembl Gene

ENSMUSG00000001768

Gene Name

Ras and Rab interactor 2

Synonyms

2010003K16Rik, RASSF4, 4632403N06Rik

MMRRC Submission

042688-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

R5099 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

145613647-145729536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 145720821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 718 (C718Y)

Ref Sequence

ENSEMBL: ENSMUSP00000105632 (fasta)

Gene Model

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

AlphaFold

Q9D684

Predicted Effect

probably damaging
Transcript: ENSMUST00000094480
AA Change: C673Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092053
Gene: ENSMUSG00000001768
AA Change: C673Y

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 damaging
Transcript: ENSMUST00000110005
AA Change: C718Y

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

SMART Domains

Protein: ENSMUSP00000105632
Gene: ENSMUSG00000001768
AA Change: C718Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175017

Meta Mutation Damage Score

0.9126

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (41/42)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsa	A	G	15: 89,359,542 (GRCm39)	L80P	probably damaging	Het
Bdkrb1	A	G	12: 105,570,533 (GRCm39)	D33G	probably benign	Het
Ccdc178	A	T	18: 22,238,648 (GRCm39)	V323E	probably benign	Het
Ceacam5	T	C	7: 17,479,513 (GRCm39)	V210A	probably damaging	Het
Dcdc2a	A	G	13: 25,291,681 (GRCm39)	E222G	probably benign	Het
Gbp9	A	T	5: 105,242,379 (GRCm39)	L120Q	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gsr	T	A	8: 34,161,556 (GRCm39)	I121N	probably damaging	Het
Ift140	T	A	17: 25,309,674 (GRCm39)	M1068K	probably damaging	Het
Jakmip2	A	G	18: 43,701,173 (GRCm39)	I414T	probably benign	Het
Lpin2	G	A	17: 71,550,965 (GRCm39)	W708*	probably null	Het
Mecom	A	G	3: 30,039,465 (GRCm39)		probably benign	Het
Mff	C	T	1: 82,728,192 (GRCm39)		probably benign	Het
Ms4a20	T	C	19: 11,089,825 (GRCm39)		probably null	Het
Neb	C	T	2: 52,085,460 (GRCm39)	C1545Y	probably damaging	Het
Or5ac24	C	T	16: 59,165,266 (GRCm39)	G266D	probably benign	Het
Or5p5	A	G	7: 107,413,809 (GRCm39)	H6R	probably benign	Het
Or8k36-ps1	A	T	2: 86,437,560 (GRCm39)	N118K	unknown	Het
Ppm1n	A	T	7: 19,011,903 (GRCm39)	L392Q	possibly damaging	Het
Prr22	T	C	17: 57,078,467 (GRCm39)	F207L	probably benign	Het
Ptprv	T	C	1: 135,046,592 (GRCm39)		noncoding transcript	Het
Rpgrip1l	G	A	8: 91,975,350 (GRCm39)	T1089I	probably benign	Het
Scn1a	A	G	2: 66,108,145 (GRCm39)	V1510A	probably damaging	Het
Slfn3	A	T	11: 83,105,764 (GRCm39)	Y587F	probably damaging	Het
Sp2	T	C	11: 96,852,175 (GRCm39)	K250E	probably damaging	Het
Ssu2	A	G	6: 112,336,585 (GRCm39)	S333P	probably benign	Het
Strbp	T	C	2: 37,493,030 (GRCm39)	T419A	probably damaging	Het
Tada2b	A	T	5: 36,633,744 (GRCm39)	M203K	probably benign	Het
Tmem176b	T	C	6: 48,811,463 (GRCm39)	Y62C	probably benign	Het
Tox	G	T	4: 6,688,958 (GRCm39)	Q469K	probably benign	Het
Trgv5	G	T	13: 19,376,886 (GRCm39)	C111F	probably damaging	Het
Tyw5	T	C	1: 57,427,864 (GRCm39)	N243D	probably damaging	Het
Ube2q2	T	A	9: 55,113,307 (GRCm39)		probably benign	Het
Ufl1	C	T	4: 25,275,914 (GRCm39)	R83Q	probably damaging	Het
Unk	A	G	11: 115,949,936 (GRCm39)	Q701R	probably benign	Het
Vmn1r60	A	T	7: 5,547,816 (GRCm39)	C95S	probably damaging	Het
Vmn1r81	A	G	7: 11,994,248 (GRCm39)	I120T	possibly damaging	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
R4372: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
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'- TAAGTGAATTCCAGGAACTCCCAC -3'
(R):5'- CCAAAGTGGCTAATCTTACATTCCATG -3'

Sequencing Primer
(F):5'- GAACTCCCACACCTGTTTATAAGTAG -3'
(R):5'- AGTTCCTCTGACACATGG -3'

Posted On

2016-06-06