Incidental Mutation 'R5991:Rnd2'
| ID |
482023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnd2
|
| Ensembl Gene |
ENSMUSG00000001313 |
| Gene Name |
Rho family GTPase 2 |
| Synonyms |
Rohn, Arhn |
| MMRRC Submission |
044171-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5991 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101359001-101362679 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101359825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 57
(L57F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001347]
[ENSMUST00000040430]
|
| AlphaFold |
Q9QYM5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001347
AA Change: L57F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001347
Gene: ENSMUSG00000001313
AA Change: L57F
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
10 |
184 |
5.22e-100 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040430
|
| SMART Domains |
Protein: ENSMUSP00000048350
Gene: ENSMUSG00000034993
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
60 |
N/A |
INTRINSIC |
|
Pfam:ADH_N
|
89 |
157 |
8.8e-11 |
PFAM |
|
Pfam:ADH_zinc_N
|
213 |
355 |
2.1e-21 |
PFAM |
|
Pfam:ADH_zinc_N_2
|
245 |
398 |
6.9e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153185
|
| Meta Mutation Damage Score |
0.1630 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho GTPase family, whose members play a key role in the regulation of actin cytoskeleton organization in response to extracellular growth factors. This particular family member has been implicated in the regulation of neuronal morphology and endosomal trafficking. The gene localizes to chromosome 17 and is the centromeric neighbor of the breast-ovarian cancer susceptibility gene BRCA1. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
A |
8: 111,777,032 (GRCm39) |
R683Q |
probably damaging |
Het |
| Adam8 |
T |
A |
7: 139,570,200 (GRCm39) |
H69L |
probably damaging |
Het |
| Bbs2 |
G |
T |
8: 94,824,914 (GRCm39) |
R23S |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,974,206 (GRCm39) |
C2369* |
probably null |
Het |
| Capn11 |
G |
T |
17: 45,970,278 (GRCm39) |
|
probably null |
Het |
| Carmil2 |
A |
G |
8: 106,418,023 (GRCm39) |
Q679R |
probably null |
Het |
| Cep120 |
T |
C |
18: 53,854,870 (GRCm39) |
I422V |
probably benign |
Het |
| Cnot7 |
A |
C |
8: 40,948,696 (GRCm39) |
|
probably null |
Het |
| Col1a1 |
T |
C |
11: 94,828,745 (GRCm39) |
V29A |
unknown |
Het |
| Dnttip1 |
A |
T |
2: 164,596,100 (GRCm39) |
Q115L |
possibly damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,857,188 (GRCm39) |
V497A |
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,532,667 (GRCm39) |
D1635G |
unknown |
Het |
| Ercc5 |
T |
A |
1: 44,219,990 (GRCm39) |
C1087* |
probably null |
Het |
| Fap |
A |
T |
2: 62,348,865 (GRCm39) |
M517K |
probably damaging |
Het |
| Focad |
C |
A |
4: 88,319,256 (GRCm39) |
D1574E |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,820,812 (GRCm39) |
P5515L |
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,373,319 (GRCm39) |
Y85H |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,896,117 (GRCm39) |
V1222A |
possibly damaging |
Het |
| Hipk3 |
C |
T |
2: 104,268,328 (GRCm39) |
M546I |
probably damaging |
Het |
| Jup |
T |
C |
11: 100,270,395 (GRCm39) |
N371D |
possibly damaging |
Het |
| Ltbp4 |
A |
G |
7: 27,008,741 (GRCm39) |
Y1262H |
probably damaging |
Het |
| Lyar |
A |
G |
5: 38,385,209 (GRCm39) |
E83G |
probably damaging |
Het |
| Lyg2 |
C |
T |
1: 37,954,800 (GRCm39) |
|
probably null |
Het |
| Mtmr11 |
T |
A |
3: 96,075,905 (GRCm39) |
|
probably null |
Het |
| Myct1 |
A |
T |
10: 5,554,426 (GRCm39) |
R98* |
probably null |
Het |
| Nol11 |
T |
C |
11: 107,061,971 (GRCm39) |
T612A |
probably benign |
Het |
| Or2l5 |
T |
C |
16: 19,333,507 (GRCm39) |
N293S |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,968,578 (GRCm39) |
K302* |
probably null |
Het |
| Or4c113 |
C |
T |
2: 88,885,126 (GRCm39) |
V215I |
probably benign |
Het |
| Or4f61 |
C |
T |
2: 111,922,960 (GRCm39) |
V29M |
probably benign |
Het |
| Or5m9 |
A |
G |
2: 85,877,254 (GRCm39) |
I143V |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,661,827 (GRCm39) |
P1403S |
probably benign |
Het |
| Pcdhb3 |
T |
C |
18: 37,434,561 (GRCm39) |
S176P |
probably benign |
Het |
| Pdcd1lg2 |
C |
T |
19: 29,431,867 (GRCm39) |
R212W |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,593,576 (GRCm39) |
Y46C |
probably damaging |
Het |
| Rfx7 |
G |
A |
9: 72,526,820 (GRCm39) |
E1337K |
possibly damaging |
Het |
| Ryr1 |
G |
T |
7: 28,804,035 (GRCm39) |
N584K |
probably damaging |
Het |
| Scmh1 |
T |
C |
4: 120,379,817 (GRCm39) |
V544A |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,834,080 (GRCm39) |
T34M |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,443,790 (GRCm39) |
L270H |
probably damaging |
Het |
| Shoc2 |
T |
A |
19: 53,991,480 (GRCm39) |
N248K |
probably damaging |
Het |
| Sirpd |
G |
T |
3: 15,385,818 (GRCm39) |
A28E |
probably benign |
Het |
| Slc25a4 |
T |
C |
8: 46,662,373 (GRCm39) |
Y95C |
probably damaging |
Het |
| Slc4a1ap |
A |
G |
5: 31,691,413 (GRCm39) |
N403S |
possibly damaging |
Het |
| Spink10 |
T |
A |
18: 62,790,956 (GRCm39) |
W7R |
probably null |
Het |
| Ssrp1 |
A |
G |
2: 84,872,640 (GRCm39) |
K426R |
possibly damaging |
Het |
| Tbc1d24 |
G |
A |
17: 24,428,043 (GRCm39) |
|
probably benign |
Het |
| Tead3 |
A |
T |
17: 28,553,352 (GRCm39) |
|
probably null |
Het |
| Timd4 |
A |
G |
11: 46,734,030 (GRCm39) |
*344W |
probably null |
Het |
| Tmem181a |
T |
A |
17: 6,339,312 (GRCm39) |
W115R |
probably damaging |
Het |
| Tmem245 |
G |
A |
4: 56,916,733 (GRCm39) |
T65I |
probably damaging |
Het |
| Vmn1r12 |
G |
C |
6: 57,136,640 (GRCm39) |
V202L |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,423 (GRCm39) |
T178A |
probably benign |
Het |
| Vps33b |
T |
A |
7: 79,933,162 (GRCm39) |
|
probably null |
Het |
| Zmym6 |
T |
A |
4: 127,002,266 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rnd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00596:Rnd2
|
APN |
11 |
101,362,017 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01964:Rnd2
|
APN |
11 |
101,361,632 (GRCm39) |
splice site |
probably null |
|
|
Atkins
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Rnd2
|
UTSW |
11 |
101,362,022 (GRCm39) |
missense |
probably benign |
|
|
R4606:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4931:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5005:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5078:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5079:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5402:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5405:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5497:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5501:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5534:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5666:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5669:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5670:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5671:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5788:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5844:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5845:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5857:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5989:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5992:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6018:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6019:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6020:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6122:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6144:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6208:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6209:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6226:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6332:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6333:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6335:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6491:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6541:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6605:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6606:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6607:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6677:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6678:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6726:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6796:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6797:Rnd2
|
UTSW |
11 |
101,359,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8415:Rnd2
|
UTSW |
11 |
101,362,011 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGACCAACTTCTGTCTAGGG -3'
(R):5'- AGACTTCCTACGTGGTTTCTG -3'
Sequencing Primer
(F):5'- ACCAACTTCTGTCTAGGGACTGAG -3'
(R):5'- GGTTTCTGTCAGGCCTAAGAAACTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation