Incidental Mutation 'R6619:Crocc2'
| ID |
524251 |
| 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 |
044742-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6619 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93096447-93158794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93118223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 382
(E382G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000138595]
|
| AlphaFold |
F6XLV1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138595
AA Change: E382G
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000120588
Gene: ENSMUSG00000084989
AA Change: E382G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
G |
A |
16: 29,167,833 (GRCm39) |
P109S |
probably benign |
Het |
| Baiap2l1 |
T |
C |
5: 144,222,916 (GRCm39) |
K106R |
probably benign |
Het |
| Coro6 |
A |
G |
11: 77,357,030 (GRCm39) |
I111V |
possibly damaging |
Het |
| Dhrs7l |
A |
T |
12: 72,668,724 (GRCm39) |
N44K |
possibly damaging |
Het |
| Dnah5 |
C |
A |
15: 28,409,266 (GRCm39) |
N3561K |
probably benign |
Het |
| Dsc2 |
T |
A |
18: 20,165,335 (GRCm39) |
E879D |
probably benign |
Het |
| Frk |
A |
G |
10: 34,481,835 (GRCm39) |
Y375C |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,717,840 (GRCm39) |
R61* |
probably null |
Het |
| Jarid2 |
A |
G |
13: 45,027,872 (GRCm39) |
D146G |
probably damaging |
Het |
| Lancl2 |
C |
A |
6: 57,699,566 (GRCm39) |
T127K |
probably damaging |
Het |
| Large1 |
G |
A |
8: 73,609,892 (GRCm39) |
Q359* |
probably null |
Het |
| Mast2 |
C |
A |
4: 116,173,694 (GRCm39) |
E521* |
probably null |
Het |
| Mrc1 |
T |
A |
2: 14,299,597 (GRCm39) |
|
probably null |
Het |
| Obi1 |
T |
C |
14: 104,759,993 (GRCm39) |
H19R |
possibly damaging |
Het |
| Or4z4 |
A |
G |
19: 12,076,727 (GRCm39) |
I92T |
probably damaging |
Het |
| Or5ak23 |
T |
C |
2: 85,244,425 (GRCm39) |
N266S |
probably benign |
Het |
| Or6c38 |
A |
T |
10: 128,929,323 (GRCm39) |
D173E |
possibly damaging |
Het |
| Or8k38 |
T |
C |
2: 86,488,406 (GRCm39) |
Y132C |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| P2ry14 |
T |
C |
3: 59,023,154 (GRCm39) |
Y102C |
probably damaging |
Het |
| Pcdhga6 |
T |
A |
18: 37,842,702 (GRCm39) |
D807E |
probably benign |
Het |
| Pcdhgb4 |
T |
A |
18: 37,854,737 (GRCm39) |
N377K |
probably damaging |
Het |
| Phf13 |
T |
A |
4: 152,076,114 (GRCm39) |
N263Y |
probably damaging |
Het |
| Rab19 |
T |
A |
6: 39,365,060 (GRCm39) |
S107T |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,165,027 (GRCm39) |
F380I |
probably damaging |
Het |
| Reep1 |
T |
C |
6: 71,784,826 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1l |
C |
T |
8: 91,959,499 (GRCm39) |
E1134K |
possibly damaging |
Het |
| Serpina3m |
A |
T |
12: 104,357,766 (GRCm39) |
Y230F |
probably benign |
Het |
| Skint3 |
T |
C |
4: 112,111,061 (GRCm39) |
I62T |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,823,279 (GRCm39) |
|
probably null |
Het |
| Sp4 |
G |
A |
12: 118,263,077 (GRCm39) |
T323I |
possibly damaging |
Het |
| Strc |
A |
G |
2: 121,198,913 (GRCm39) |
I1378T |
probably damaging |
Het |
| Tepsin |
C |
T |
11: 119,986,428 (GRCm39) |
G128D |
probably benign |
Het |
| Togaram2 |
A |
G |
17: 71,996,266 (GRCm39) |
N89D |
probably damaging |
Het |
| Trim36 |
T |
C |
18: 46,321,475 (GRCm39) |
T191A |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,077,980 (GRCm39) |
|
probably null |
Het |
| Zfp418 |
G |
A |
7: 7,184,895 (GRCm39) |
C286Y |
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 |
|
R6371:Crocc2
|
UTSW |
1 |
93,143,353 (GRCm39) |
missense |
probably benign |
0.10 |
|
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 |
|
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'- AGCATCAAGGAGGTATGGCC -3'
(R):5'- GAAAGGCTCTAGACACCTGAGG -3'
Sequencing Primer
(F):5'- GGCCTTGCCTGGTGCTTTTC -3'
(R):5'- CCTTGTGGGCTGTGATCACC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation