Mutagenetix > Incidental Mutation

Incidental Mutation 'R9555:Rin2'

720703

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 #

R9555 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145613647-145729536 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 145718415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 632 (Q632*)

Ref Sequence

ENSEMBL: ENSMUSP00000105632 (fasta)

Gene Model

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

AlphaFold

Q9D684

Predicted Effect

probably null
Transcript: ENSMUST00000094480
AA Change: Q587*

SMART Domains

Protein: ENSMUSP00000092053
Gene: ENSMUSG00000001768
AA Change: Q587*

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 null
Transcript: ENSMUST00000110005
AA Change: Q632*

SMART Domains

Protein: ENSMUSP00000105632
Gene: ENSMUSG00000001768
AA Change: Q632*

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

probably benign
Transcript: ENSMUST00000147976

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,586,947 (GRCm39)	V259A	probably benign	Het
Abcd4	T	C	12: 84,661,949 (GRCm39)	I63V	probably benign	Het
Agps	C	A	2: 75,683,091 (GRCm39)	P139T	probably damaging	Het
B130006D01Rik	A	T	11: 95,616,956 (GRCm39)	H27L	unknown	Het
BC024139	A	G	15: 76,005,359 (GRCm39)	V501A	possibly damaging	Het
Cacul1	A	T	19: 60,533,887 (GRCm39)	Y238*	probably null	Het
Cep55	T	C	19: 38,059,592 (GRCm39)		probably null	Het
Csf1r	T	A	18: 61,243,473 (GRCm39)	I163N	possibly damaging	Het
Ddx3y	G	T	Y: 1,265,895 (GRCm39)	D367E	probably benign	Het
Ecpas	T	A	4: 58,879,083 (GRCm39)	I69L	possibly damaging	Het
Epb41l4a	A	G	18: 34,009,966 (GRCm39)	V213A	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Klrb1a	T	C	6: 128,595,427 (GRCm39)	E142G	probably damaging	Het
Lamb3	A	T	1: 193,011,113 (GRCm39)	I369F	possibly damaging	Het
Lig1	T	C	7: 13,025,400 (GRCm39)	V254A	probably benign	Het
Lrp1b	T	A	2: 40,741,693 (GRCm39)	D3192V		Het
Lrp1b	T	C	2: 40,748,438 (GRCm39)	D3134G		Het
Map1s	T	A	8: 71,367,236 (GRCm39)	S714T	probably benign	Het
Marchf2	A	G	17: 33,922,129 (GRCm39)	L77P	probably damaging	Het
Nek8	A	G	11: 78,067,390 (GRCm39)	F15L	probably benign	Het
Or1s2	T	A	19: 13,758,360 (GRCm39)	I126N	probably damaging	Het
Pdzrn4	C	T	15: 92,297,703 (GRCm39)	R223C	probably damaging	Het
Per1	T	A	11: 68,995,574 (GRCm39)	V718D	probably benign	Het
Pik3ca	A	G	3: 32,505,916 (GRCm39)	H676R	probably damaging	Het
Pla2g4e	C	A	2: 120,075,400 (GRCm39)		probably benign	Het
Proser1	A	T	3: 53,378,876 (GRCm39)	I103F	possibly damaging	Het
Pyroxd1	G	A	6: 142,300,421 (GRCm39)	A184T	possibly damaging	Het
Serpinb12	C	T	1: 106,884,345 (GRCm39)	H364Y	probably damaging	Het
Sfxn3	G	A	19: 45,038,211 (GRCm39)	E64K	probably benign	Het
Slc38a1	C	T	15: 96,486,860 (GRCm39)	V199M	possibly damaging	Het
Tep1	A	G	14: 51,105,888 (GRCm39)	I44T	possibly damaging	Het
Trip13	T	A	13: 74,084,252 (GRCm39)	T78S	probably benign	Het
Trmt11	T	C	10: 30,470,150 (GRCm39)	D58G	possibly damaging	Het
Usp28	A	T	9: 48,952,736 (GRCm39)	I1015F	probably damaging	Het
Vcan	T	C	13: 89,839,659 (GRCm39)	T1962A		Het
Vmn2r100	T	A	17: 19,743,857 (GRCm39)	S507T	probably benign	Het
Vmn2r91	C	T	17: 18,325,792 (GRCm39)	P137S	possibly damaging	Het
Zfp84	G	T	7: 29,476,102 (GRCm39)	V265F	probably 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
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
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'- GCCCTGATCACGTGTTTGTC -3'
(R):5'- TGAGCTTACAGACCCGTAGC -3'

Sequencing Primer
(F):5'- TGTAGAGTCACAGATGTGTACCCC -3'
(R):5'- TTACAGACCCGTAGCAAAAGCATG -3'

Posted On

2022-08-09