Mutagenetix > Incidental Mutation

Incidental Mutation 'R9224:Rin2'

699644

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?

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

Stock #

R9224 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145613647-145729536 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 145720822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 718 (C718*)

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: C673*

SMART Domains

Protein: ENSMUSP00000092053
Gene: ENSMUSG00000001768
AA Change: C673*

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: C718*

SMART Domains

Protein: ENSMUSP00000105632
Gene: ENSMUSG00000001768
AA Change: C718*

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,767,100 (GRCm39)	S229L	possibly damaging	Het
Actc1	TGA	T	2: 113,879,710 (GRCm39)		probably null	Het
Actl9	G	A	17: 33,653,004 (GRCm39)	A355T	probably benign	Het
Adamts8	A	G	9: 30,854,188 (GRCm39)	Q19R	probably benign	Het
Akr1c14	A	T	13: 4,130,695 (GRCm39)	Y216F	possibly damaging	Het
Alms1	T	C	6: 85,598,770 (GRCm39)	C1199R	possibly damaging	Het
Apc2	T	C	10: 80,150,111 (GRCm39)	S1722P	probably damaging	Het
Arid1a	T	C	4: 133,409,167 (GRCm39)	E1395G	unknown	Het
Atp6v0e2	T	C	6: 48,516,190 (GRCm39)	V46A	possibly damaging	Het
Bcar3	A	G	3: 122,319,091 (GRCm39)	R743G	probably damaging	Het
Bhmt2	A	G	13: 93,805,854 (GRCm39)	V56A	probably damaging	Het
Bsn	C	A	9: 107,982,686 (GRCm39)	R917L		Het
Cabyr	T	G	18: 12,887,278 (GRCm39)	V303G	possibly damaging	Het
Carmil1	A	T	13: 24,292,512 (GRCm39)	I429N	probably damaging	Het
Ccdc27	T	C	4: 154,122,174 (GRCm39)	N235D	unknown	Het
Ccdc61	T	C	7: 18,637,746 (GRCm39)	M37V	probably benign	Het
Cd40	A	T	2: 164,898,716 (GRCm39)	I48F	unknown	Het
Cdk13	A	T	13: 17,941,071 (GRCm39)	S664R	probably damaging	Het
Cel	TTA	TTATA	2: 28,449,441 (GRCm39)		probably null	Het
Cfap46	T	A	7: 139,258,416 (GRCm39)	R286*	probably null	Het
Ckap2	A	C	8: 22,659,954 (GRCm39)	I509S	possibly damaging	Het
Clptm1l	A	T	13: 73,752,344 (GRCm39)		probably benign	Het
Col11a1	T	G	3: 114,001,929 (GRCm39)	M1591R	unknown	Het
Col6a5	C	A	9: 105,814,594 (GRCm39)	A473S	unknown	Het
Cxcr2	T	A	1: 74,197,756 (GRCm39)	D83E	probably damaging	Het
Cyp2c39	G	A	19: 39,527,332 (GRCm39)	C226Y	probably benign	Het
Ddr1	A	C	17: 36,000,609 (GRCm39)	F352C	probably damaging	Het
Defb22	T	A	2: 152,327,721 (GRCm39)	T155S	unknown	Het
Dennd4c	G	T	4: 86,738,170 (GRCm39)	E935*	probably null	Het
Dst	A	C	1: 34,330,879 (GRCm39)	E4889D	probably damaging	Het
Efcab3	A	G	11: 104,661,801 (GRCm39)	Q1314R	probably benign	Het
Emilin1	T	A	5: 31,074,823 (GRCm39)	C355S	probably damaging	Het
Enpp3	C	T	10: 24,650,716 (GRCm39)	V807I	probably benign	Het
Fcnb	T	A	2: 27,969,160 (GRCm39)	D179V	probably damaging	Het
Ficd	T	A	5: 113,875,196 (GRCm39)	D88E	probably benign	Het
Fndc3b	T	C	3: 27,524,450 (GRCm39)	K437E	possibly damaging	Het
Fyb2	T	A	4: 104,853,105 (GRCm39)	W566R	probably benign	Het
Gm14403	A	G	2: 177,200,336 (GRCm39)	Q94R	probably benign	Het
Gm32687	T	A	10: 81,714,866 (GRCm39)	I86N	probably benign	Het
Gpam	T	G	19: 55,075,907 (GRCm39)	D235A	probably damaging	Het
Gstt4	T	C	10: 75,651,046 (GRCm39)	E192G	probably damaging	Het
H2-Q6	T	G	17: 35,644,309 (GRCm39)	V97G	probably benign	Het
Hcn1	G	A	13: 118,062,254 (GRCm39)	G507S	unknown	Het
Hydin	T	C	8: 111,259,516 (GRCm39)	I2496T	probably benign	Het
Jund	A	G	8: 71,151,864 (GRCm39)	D53G	probably damaging	Het
Kat6b	T	A	14: 21,720,031 (GRCm39)	M1461K	probably benign	Het
Lnx1	T	G	5: 74,766,810 (GRCm39)	K435Q	probably benign	Het
Lpcat1	C	A	13: 73,658,161 (GRCm39)	L316M	probably damaging	Het
Lrrtm3	ATTTT	ATTTTT	10: 63,925,035 (GRCm39)		probably null	Het
Ly6c1	T	A	15: 74,916,465 (GRCm39)	T126S	probably benign	Het
Macf1	A	G	4: 123,326,690 (GRCm39)	S4938P	probably damaging	Het
Map2k2	T	C	10: 80,954,008 (GRCm39)	V158A	possibly damaging	Het
Map3k4	A	G	17: 12,456,973 (GRCm39)	V1323A	probably damaging	Het
Map4k5	A	T	12: 69,939,467 (GRCm39)	V23E	possibly damaging	Het
Med30	T	G	15: 52,582,839 (GRCm39)	L92R	probably damaging	Het
Mroh8	C	T	2: 157,063,069 (GRCm39)	G851S	possibly damaging	Het
Msmb	T	A	14: 31,880,060 (GRCm39)	C83*	probably null	Het
Mtif2	A	T	11: 29,494,364 (GRCm39)	R655S	probably benign	Het
Myo10	C	T	15: 25,808,081 (GRCm39)	S1901L	probably benign	Het
Myom2	A	T	8: 15,178,804 (GRCm39)	I1279F	possibly damaging	Het
Nat9	T	C	11: 115,075,441 (GRCm39)	I67V	probably damaging	Het
Ncam1	A	G	9: 49,419,995 (GRCm39)	S774P	probably damaging	Het
Ndufaf6	T	C	4: 11,062,089 (GRCm39)	T181A	probably damaging	Het
Nlrp4f	T	A	13: 65,332,829 (GRCm39)	K110*	probably null	Het
Nlrp9b	T	C	7: 19,753,217 (GRCm39)	S41P	probably benign	Het
Nlrp9b	A	G	7: 19,757,476 (GRCm39)	T238A	probably benign	Het
Noxo1	A	T	17: 24,919,305 (GRCm39)	E342D	probably benign	Het
Nt5dc2	T	C	14: 30,857,665 (GRCm39)	M55T	probably benign	Het
Or1j14	A	T	2: 36,417,838 (GRCm39)	Q138L	probably benign	Het
Or2ag18	T	C	7: 106,405,489 (GRCm39)	Y60C	probably damaging	Het
Or2f1	T	C	6: 42,721,904 (GRCm39)	F311S	probably benign	Het
Or2h2c	T	C	17: 37,422,767 (GRCm39)	T36A	possibly damaging	Het
Or5al6	T	A	2: 85,976,220 (GRCm39)	N286I	probably damaging	Het
Or6c210	C	A	10: 129,496,007 (GRCm39)	L111M	probably damaging	Het
Or6c6	T	A	10: 129,186,450 (GRCm39)	M6K	probably benign	Het
Or9s18	C	T	13: 65,300,203 (GRCm39)	T55I	probably damaging	Het
P4ha2	C	T	11: 54,009,963 (GRCm39)	P240L	possibly damaging	Het
Pcdha11	T	A	18: 37,139,073 (GRCm39)	L234Q	probably damaging	Het
Pgm3	C	T	9: 86,438,415 (GRCm39)	A457T	probably benign	Het
Pira12	T	C	7: 3,900,234 (GRCm39)	T123A	probably benign	Het
Pkp4	T	C	2: 59,144,738 (GRCm39)	V533A	probably benign	Het
Plac8l1	T	C	18: 42,325,702 (GRCm39)	T68A	possibly damaging	Het
Pou2f3	A	T	9: 43,050,694 (GRCm39)	I222N	probably damaging	Het
Ppp1r14d	T	C	2: 119,060,222 (GRCm39)	D20G	probably benign	Het
Ppp1r37	C	A	7: 19,265,729 (GRCm39)	G679V	probably damaging	Het
Ppp6r2	T	A	15: 89,146,599 (GRCm39)	I199N	probably damaging	Het
Prune2	A	G	19: 17,097,393 (GRCm39)	T966A	probably damaging	Het
Ptdss2	T	C	7: 140,734,798 (GRCm39)	V375A	probably benign	Het
Rara	TGCCCCGC	TGCCCCGCCCCGC	11: 98,857,236 (GRCm39)		probably null	Het
Rptor	C	T	11: 119,785,113 (GRCm39)	T1170I	probably benign	Het
Samd5	T	C	10: 9,550,259 (GRCm39)	Y150C	probably damaging	Het
Setd1b	T	C	5: 123,296,773 (GRCm39)	S1245P	unknown	Het
Sipa1l2	T	C	8: 126,218,716 (GRCm39)	E207G	probably damaging	Het
Slc29a1	C	A	17: 45,897,153 (GRCm39)	V378L	probably damaging	Het
Slc2a12	T	G	10: 22,541,261 (GRCm39)	I372S	possibly damaging	Het
Slc7a10	T	A	7: 34,894,639 (GRCm39)	Y99*	probably null	Het
Smco3	A	G	6: 136,808,517 (GRCm39)	V119A	probably damaging	Het
Sptlc3	C	T	2: 139,336,154 (GRCm39)	T10I	probably benign	Het
Sri	T	A	5: 8,113,323 (GRCm39)	W105R	probably damaging	Het
Stk35	T	C	2: 129,652,491 (GRCm39)	Y331H	probably damaging	Het
Tipin	T	C	9: 64,195,430 (GRCm39)	I12T	probably benign	Het
Tlr5	A	G	1: 182,802,693 (GRCm39)	T666A	probably benign	Het
Tmprss11g	C	A	5: 86,640,003 (GRCm39)	V222L	probably benign	Het
Tnfrsf11b	T	A	15: 54,115,556 (GRCm39)	Y347F	possibly damaging	Het
Traf6	A	G	2: 101,527,512 (GRCm39)	T421A	probably benign	Het
Trrap	T	A	5: 144,708,049 (GRCm39)	D30E	possibly damaging	Het
Ube2k	T	A	5: 65,751,847 (GRCm39)	Y162N	probably damaging	Het
Uck2	A	T	1: 167,065,171 (GRCm39)	V49E	probably damaging	Het
Vcam1	A	T	3: 115,904,592 (GRCm39)	Y718*	probably null	Het
Zan	T	C	5: 137,472,269 (GRCm39)	N159S	probably damaging	Het
Zfp438	A	G	18: 5,210,788 (GRCm39)	L750P	probably damaging	Het
Zfp54	A	T	17: 21,654,037 (GRCm39)	Y177F	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
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
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'- AGTGAATTCCAGGAACTCCCAC -3'
(R):5'- GTCCAAAGTGGCTAATCTTACATTC -3'

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

Posted On

2022-02-07