Incidental Mutation 'R6280:Rin2'
| ID |
507876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rin2
|
| Ensembl Gene |
ENSMUSG00000001768 |
| Gene Name |
Ras and Rab interactor 2 |
| Synonyms |
2010003K16Rik, RASSF4, 4632403N06Rik |
| MMRRC Submission |
044450-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.321)
|
| Stock # |
R6280 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
145613647-145729536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145702939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 545
(Y545C)
|
| 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: Y500C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092053
Gene: ENSMUSG00000001768
AA Change: Y500C
| 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: Y545C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105632
Gene: ENSMUSG00000001768
AA Change: Y545C
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (75/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,311,619 (GRCm39) |
D1930N |
probably benign |
Het |
| Adam8 |
A |
G |
7: 139,564,720 (GRCm39) |
L667S |
probably damaging |
Het |
| Adcy4 |
A |
T |
14: 56,016,500 (GRCm39) |
I317N |
probably damaging |
Het |
| Agpat3 |
A |
G |
10: 78,120,872 (GRCm39) |
F102S |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,522,325 (GRCm39) |
W443R |
probably damaging |
Het |
| BC049715 |
T |
A |
6: 136,817,229 (GRCm39) |
Y156* |
probably null |
Het |
| Bpifc |
C |
T |
10: 85,813,576 (GRCm39) |
V323I |
probably benign |
Het |
| Camp |
T |
G |
9: 109,676,577 (GRCm39) |
I149L |
probably benign |
Het |
| Cfap20dc |
T |
G |
14: 8,473,414 (GRCm38) |
|
probably null |
Het |
| Cibar2 |
A |
G |
8: 120,898,858 (GRCm39) |
I94T |
possibly damaging |
Het |
| Cnih1 |
A |
G |
14: 47,025,634 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
A |
T |
10: 76,948,323 (GRCm39) |
|
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,599,724 (GRCm39) |
D780V |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,972,084 (GRCm39) |
V442I |
probably benign |
Het |
| Fam83g |
G |
T |
11: 61,594,008 (GRCm39) |
S514I |
probably benign |
Het |
| Fbxo7 |
A |
G |
10: 85,864,969 (GRCm39) |
N93D |
probably benign |
Het |
| Fgf20 |
G |
T |
8: 40,734,153 (GRCm39) |
S76* |
probably null |
Het |
| Foxi1 |
A |
G |
11: 34,157,972 (GRCm39) |
F18L |
probably damaging |
Het |
| Fxr1 |
G |
A |
3: 34,100,401 (GRCm39) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,798,195 (GRCm39) |
L800H |
probably damaging |
Het |
| Gpn3 |
T |
A |
5: 122,512,022 (GRCm39) |
S33T |
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,456,072 (GRCm39) |
M743V |
probably damaging |
Het |
| Hira |
A |
G |
16: 18,729,457 (GRCm39) |
N109D |
probably damaging |
Het |
| Hsd3b3 |
A |
G |
3: 98,660,621 (GRCm39) |
|
probably null |
Het |
| Hsf2 |
T |
G |
10: 57,387,591 (GRCm39) |
S370A |
probably benign |
Het |
| Htt |
T |
A |
5: 35,028,103 (GRCm39) |
D1786E |
probably benign |
Het |
| Ifit1bl2 |
T |
A |
19: 34,597,534 (GRCm39) |
R27S |
possibly damaging |
Het |
| Il17rb |
G |
A |
14: 29,724,928 (GRCm39) |
A186V |
probably benign |
Het |
| Irak4 |
G |
T |
15: 94,449,691 (GRCm39) |
E57* |
probably null |
Het |
| Kcnh2 |
T |
A |
5: 24,536,921 (GRCm39) |
H221L |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,016,687 (GRCm39) |
N1149D |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,141,303 (GRCm39) |
H702R |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,704,514 (GRCm39) |
S1236P |
possibly damaging |
Het |
| Krt77 |
T |
A |
15: 101,773,910 (GRCm39) |
D248V |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,284,106 (GRCm39) |
N52S |
possibly damaging |
Het |
| Lhfpl6 |
T |
C |
3: 53,167,935 (GRCm39) |
Y170H |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,539,243 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,846,848 (GRCm39) |
I872T |
probably benign |
Het |
| Lrit3 |
T |
C |
3: 129,582,412 (GRCm39) |
E525G |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,425,453 (GRCm39) |
T726A |
probably benign |
Het |
| Mep1a |
A |
T |
17: 43,813,283 (GRCm39) |
N46K |
probably damaging |
Het |
| Muc16 |
C |
A |
9: 18,490,613 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
A |
C |
8: 87,579,794 (GRCm39) |
N669K |
possibly damaging |
Het |
| Nelfcd |
A |
G |
2: 174,257,739 (GRCm39) |
D26G |
probably benign |
Het |
| Neu4 |
G |
A |
1: 93,952,873 (GRCm39) |
S414N |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,212,935 (GRCm39) |
D336G |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,954,509 (GRCm39) |
G3691V |
possibly damaging |
Het |
| Or4c52 |
A |
C |
2: 89,845,393 (GRCm39) |
I40L |
possibly damaging |
Het |
| Or5t17 |
A |
G |
2: 86,832,364 (GRCm39) |
N17S |
probably damaging |
Het |
| Pdgfd |
T |
A |
9: 6,288,627 (GRCm39) |
S94T |
probably benign |
Het |
| Picalm |
A |
G |
7: 89,826,770 (GRCm39) |
H290R |
probably benign |
Het |
| Pou2f3 |
A |
T |
9: 43,050,634 (GRCm39) |
L242Q |
probably damaging |
Het |
| Pou2f3 |
G |
T |
9: 43,050,635 (GRCm39) |
L242M |
probably damaging |
Het |
| Prkd3 |
C |
T |
17: 79,289,360 (GRCm39) |
G187D |
probably damaging |
Het |
| Pwp1 |
A |
G |
10: 85,710,326 (GRCm39) |
S49G |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,184,129 (GRCm39) |
L1626P |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,228,555 (GRCm39) |
S534P |
probably damaging |
Het |
| Rwdd4a |
A |
G |
8: 47,995,832 (GRCm39) |
T71A |
probably benign |
Het |
| Senp7 |
T |
C |
16: 55,982,738 (GRCm39) |
F504L |
possibly damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,167,703 (GRCm39) |
T231A |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 24,006,377 (GRCm39) |
S468G |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,112,310 (GRCm39) |
N697S |
probably benign |
Het |
| Spint1 |
T |
A |
2: 119,075,759 (GRCm39) |
V194E |
possibly damaging |
Het |
| Sptlc2 |
A |
T |
12: 87,434,905 (GRCm39) |
M14K |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,531,608 (GRCm39) |
K2622E |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,089,338 (GRCm39) |
N614S |
probably benign |
Het |
| Tdpoz2 |
A |
T |
3: 93,559,190 (GRCm39) |
C261S |
probably benign |
Het |
| Tmem150b |
A |
T |
7: 4,727,373 (GRCm39) |
I44N |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,608,502 (GRCm39) |
L17807P |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,873,492 (GRCm39) |
R121W |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,291 (GRCm39) |
H189L |
possibly damaging |
Het |
| Vmn2r19 |
A |
G |
6: 123,313,212 (GRCm39) |
S761G |
probably benign |
Het |
| Wdr11 |
A |
T |
7: 129,200,830 (GRCm39) |
K34* |
probably null |
Het |
| Zfp120 |
A |
T |
2: 149,959,964 (GRCm39) |
S141R |
possibly damaging |
Het |
| Zfp462 |
C |
G |
4: 55,010,253 (GRCm39) |
P740A |
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 |
|
|
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'- ATGGCACCTCCCATCAAGTC -3'
(R):5'- GGCTGACAAGGGTTACAGTAC -3'
Sequencing Primer
(F):5'- TCCCATCAAGTCCAAAAAGAAGAGG -3'
(R):5'- AGGGTTACAGTACATTTTATGCCTG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation