Incidental Mutation 'R6371:Crocc2'
| ID |
513506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crocc2
|
| Ensembl Gene |
ENSMUSG00000084989 |
| Gene Name |
ciliary rootlet coiled-coil, rootletin family member 2 |
| Synonyms |
E030010N08Rik, LOC381284 |
| MMRRC Submission |
044521-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6371 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93096447-93158794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93143353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1318
(N1318K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000138595]
|
| AlphaFold |
F6XLV1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138595
AA Change: N1318K
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120588
Gene: ENSMUSG00000084989
AA Change: N1318K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
82 |
N/A |
INTRINSIC |
|
Pfam:Rootletin
|
89 |
260 |
5.1e-24 |
PFAM |
|
coiled coil region
|
281 |
346 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
381 |
424 |
9.68e-9 |
PROSPERO |
|
internal_repeat_3
|
389 |
414 |
5.46e-6 |
PROSPERO |
|
internal_repeat_4
|
398 |
425 |
1.1e-5 |
PROSPERO |
|
coiled coil region
|
426 |
627 |
N/A |
INTRINSIC |
|
coiled coil region
|
655 |
1247 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1252 |
1280 |
6.61e-7 |
PROSPERO |
|
internal_repeat_4
|
1341 |
1374 |
1.1e-5 |
PROSPERO |
|
internal_repeat_1
|
1347 |
1384 |
9.68e-9 |
PROSPERO |
|
coiled coil region
|
1403 |
1512 |
N/A |
INTRINSIC |
|
coiled coil region
|
1539 |
1582 |
N/A |
INTRINSIC |
|
low complexity region
|
1590 |
1604 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.1%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
C |
T |
12: 113,453,894 (GRCm39) |
S237L |
probably damaging |
Het |
| Ank3 |
T |
G |
10: 69,644,709 (GRCm39) |
L58V |
probably damaging |
Het |
| Arsb |
A |
T |
13: 93,926,574 (GRCm39) |
I115F |
possibly damaging |
Het |
| Atad2b |
T |
C |
12: 5,023,970 (GRCm39) |
Y32H |
probably damaging |
Het |
| Brd1 |
A |
C |
15: 88,598,201 (GRCm39) |
M515R |
probably benign |
Het |
| Cbx7 |
A |
G |
15: 79,803,023 (GRCm39) |
S30P |
possibly damaging |
Het |
| Cdk12 |
A |
G |
11: 98,136,114 (GRCm39) |
T1123A |
unknown |
Het |
| Cep170b |
A |
G |
12: 112,707,379 (GRCm39) |
D375G |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,390,369 (GRCm39) |
K164E |
probably benign |
Het |
| Clip4 |
A |
C |
17: 72,163,459 (GRCm39) |
K677T |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,617,540 (GRCm39) |
I137T |
possibly damaging |
Het |
| Cntln |
T |
C |
4: 84,802,816 (GRCm39) |
S39P |
probably damaging |
Het |
| Emc1 |
C |
T |
4: 139,098,976 (GRCm39) |
Q820* |
probably null |
Het |
| Fbxl2 |
G |
A |
9: 113,818,451 (GRCm39) |
T170I |
probably damaging |
Het |
| Fyb2 |
A |
G |
4: 104,852,975 (GRCm39) |
T552A |
probably damaging |
Het |
| Garin5b |
A |
G |
7: 4,762,358 (GRCm39) |
V257A |
probably benign |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,269,006 (GRCm39) |
Y2213H |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,184,986 (GRCm39) |
Y24H |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
| Itgb2 |
C |
A |
10: 77,384,431 (GRCm39) |
P184H |
probably damaging |
Het |
| Kcnb2 |
T |
A |
1: 15,781,436 (GRCm39) |
D769E |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,741,666 (GRCm39) |
M3087T |
possibly damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,795,800 (GRCm39) |
|
probably null |
Het |
| Ms4a6b |
A |
G |
19: 11,497,728 (GRCm39) |
E9G |
probably damaging |
Het |
| Nat3 |
G |
A |
8: 67,976,831 (GRCm39) |
|
probably null |
Het |
| Ndufaf1 |
A |
T |
2: 119,490,534 (GRCm39) |
D175E |
probably damaging |
Het |
| Nop58 |
T |
G |
1: 59,750,471 (GRCm39) |
|
probably benign |
Het |
| Or10al6 |
A |
G |
17: 38,083,326 (GRCm39) |
T261A |
probably benign |
Het |
| Or8s16 |
A |
G |
15: 98,211,219 (GRCm39) |
Y71H |
possibly damaging |
Het |
| P3h4 |
C |
T |
11: 100,302,575 (GRCm39) |
E354K |
probably benign |
Het |
| Plekhm2 |
T |
G |
4: 141,356,843 (GRCm39) |
T787P |
possibly damaging |
Het |
| Ppia |
C |
T |
11: 6,368,230 (GRCm39) |
T37I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,200,511 (GRCm39) |
M1330L |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,539,426 (GRCm39) |
E53G |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,823,482 (GRCm39) |
V721E |
probably damaging |
Het |
| Slc33a1 |
A |
T |
3: 63,850,709 (GRCm39) |
D538E |
probably benign |
Het |
| Son |
T |
C |
16: 91,471,629 (GRCm39) |
|
|
Het |
| Srebf1 |
A |
T |
11: 60,094,341 (GRCm39) |
S591R |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Taok2 |
G |
A |
7: 126,469,319 (GRCm39) |
R1170W |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,845,688 (GRCm39) |
V210E |
probably benign |
Het |
| Ttc6 |
T |
A |
12: 57,775,249 (GRCm39) |
N1648K |
possibly damaging |
Het |
| Vgll3 |
C |
T |
16: 65,636,131 (GRCm39) |
P94L |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,349,362 (GRCm39) |
V740E |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 20,040,460 (GRCm39) |
E1127G |
possibly damaging |
Het |
| Zfp709 |
T |
A |
8: 72,643,329 (GRCm39) |
Y252N |
probably damaging |
Het |
|
| Other mutations in Crocc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Crocc2
|
APN |
1 |
93,144,766 (GRCm39) |
nonsense |
probably null |
|
|
Popper
|
UTSW |
1 |
93,111,126 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0396:Crocc2
|
UTSW |
1 |
93,151,936 (GRCm39) |
splice site |
probably benign |
|
|
R1382:Crocc2
|
UTSW |
1 |
93,144,815 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4608:Crocc2
|
UTSW |
1 |
93,096,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4609:Crocc2
|
UTSW |
1 |
93,096,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4619:Crocc2
|
UTSW |
1 |
93,141,372 (GRCm39) |
missense |
probably benign |
|
|
R4646:Crocc2
|
UTSW |
1 |
93,096,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4647:Crocc2
|
UTSW |
1 |
93,096,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4648:Crocc2
|
UTSW |
1 |
93,096,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4767:Crocc2
|
UTSW |
1 |
93,130,578 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4811:Crocc2
|
UTSW |
1 |
93,133,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5046:Crocc2
|
UTSW |
1 |
93,133,624 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5389:Crocc2
|
UTSW |
1 |
93,143,363 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5632:Crocc2
|
UTSW |
1 |
93,145,575 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5887:Crocc2
|
UTSW |
1 |
93,121,838 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6128:Crocc2
|
UTSW |
1 |
93,122,123 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6142:Crocc2
|
UTSW |
1 |
93,118,201 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6258:Crocc2
|
UTSW |
1 |
93,141,360 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6260:Crocc2
|
UTSW |
1 |
93,141,360 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6288:Crocc2
|
UTSW |
1 |
93,122,227 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6312:Crocc2
|
UTSW |
1 |
93,143,432 (GRCm39) |
nonsense |
probably null |
|
|
R6335:Crocc2
|
UTSW |
1 |
93,130,560 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6339:Crocc2
|
UTSW |
1 |
93,141,754 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6439:Crocc2
|
UTSW |
1 |
93,111,126 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6442:Crocc2
|
UTSW |
1 |
93,112,775 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6545:Crocc2
|
UTSW |
1 |
93,140,659 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6619:Crocc2
|
UTSW |
1 |
93,118,223 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6898:Crocc2
|
UTSW |
1 |
93,143,304 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7170:Crocc2
|
UTSW |
1 |
93,121,704 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7378:Crocc2
|
UTSW |
1 |
93,121,809 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7395:Crocc2
|
UTSW |
1 |
93,143,829 (GRCm39) |
nonsense |
probably null |
|
|
R7461:Crocc2
|
UTSW |
1 |
93,122,311 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7613:Crocc2
|
UTSW |
1 |
93,122,311 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7831:Crocc2
|
UTSW |
1 |
93,143,195 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7915:Crocc2
|
UTSW |
1 |
93,141,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8085:Crocc2
|
UTSW |
1 |
93,130,578 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8171:Crocc2
|
UTSW |
1 |
93,116,723 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8193:Crocc2
|
UTSW |
1 |
93,117,888 (GRCm39) |
splice site |
probably null |
|
|
R8494:Crocc2
|
UTSW |
1 |
93,144,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Crocc2
|
UTSW |
1 |
93,120,847 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8918:Crocc2
|
UTSW |
1 |
93,129,144 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8970:Crocc2
|
UTSW |
1 |
93,116,687 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9458:Crocc2
|
UTSW |
1 |
93,145,516 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9482:Crocc2
|
UTSW |
1 |
93,143,106 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9522:Crocc2
|
UTSW |
1 |
93,117,429 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9597:Crocc2
|
UTSW |
1 |
93,118,217 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9703:Crocc2
|
UTSW |
1 |
93,130,444 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Crocc2
|
UTSW |
1 |
93,154,414 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Crocc2
|
UTSW |
1 |
93,141,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGGCATCTTTGTGAGAGC -3'
(R):5'- AAGCACAGACTCCTAAAGTTGTTAG -3'
Sequencing Primer
(F):5'- GCATCTTTGTGAGAGCCAGAG -3'
(R):5'- AGCCTCCTTATTACATAGGCCATGAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation