Incidental Mutation 'R7461:Crocc2'
| ID |
578429 |
| 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 |
045535-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R7461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93096447-93158794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 93122311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 735
(A735S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000138595]
|
| AlphaFold |
F6XLV1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138595
AA Change: A735S
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000120588
Gene: ENSMUSG00000084989
AA Change: A735S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adgrb2 |
CTATA |
CTATATA |
4: 129,915,006 (GRCm39) |
|
probably benign |
Het |
| Akt2 |
A |
G |
7: 27,336,595 (GRCm39) |
I448V |
probably benign |
Het |
| Anapc5 |
G |
A |
5: 122,956,928 (GRCm39) |
T117M |
probably damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,115,326 (GRCm39) |
E358G |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,411,549 (GRCm39) |
K42N |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,788,120 (GRCm39) |
D1605E |
probably benign |
Het |
| Cdkl1 |
T |
A |
12: 69,803,235 (GRCm39) |
I214L |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,302,956 (GRCm39) |
G2506R |
probably damaging |
Het |
| Cenpj |
G |
A |
14: 56,764,501 (GRCm39) |
R1304* |
probably null |
Het |
| Cfap58 |
A |
G |
19: 47,970,561 (GRCm39) |
D593G |
possibly damaging |
Het |
| Crip2 |
T |
C |
12: 113,107,777 (GRCm39) |
|
probably null |
Het |
| Dcc |
A |
T |
18: 71,439,105 (GRCm39) |
L1279H |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,439,816 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
C |
T |
9: 64,960,402 (GRCm39) |
T311M |
possibly damaging |
Het |
| Eps15 |
T |
C |
4: 109,186,922 (GRCm39) |
S330P |
probably damaging |
Het |
| Exoc2 |
C |
T |
13: 31,066,255 (GRCm39) |
V474I |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,194,416 (GRCm39) |
T39A |
unknown |
Het |
| Foxn2 |
T |
C |
17: 88,794,311 (GRCm39) |
I416T |
possibly damaging |
Het |
| Gbp8 |
T |
C |
5: 105,178,880 (GRCm39) |
E145G |
probably damaging |
Het |
| Gjd2 |
A |
C |
2: 113,841,599 (GRCm39) |
S293A |
possibly damaging |
Het |
| Gm3676 |
T |
A |
14: 41,365,233 (GRCm39) |
I141L |
probably benign |
Het |
| Gm4131 |
A |
G |
14: 62,718,538 (GRCm39) |
Y23H |
possibly damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,947,054 (GRCm39) |
D385V |
possibly damaging |
Het |
| Hdac2 |
T |
C |
10: 36,865,232 (GRCm39) |
S149P |
probably damaging |
Het |
| Igsf9b |
A |
T |
9: 27,245,418 (GRCm39) |
R1128S |
probably benign |
Het |
| Invs |
A |
G |
4: 48,392,668 (GRCm39) |
H294R |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,065,211 (GRCm39) |
S122T |
possibly damaging |
Het |
| Kansl3 |
G |
A |
1: 36,382,876 (GRCm39) |
S812F |
probably damaging |
Het |
| Kcnt1 |
A |
T |
2: 25,791,358 (GRCm39) |
H567L |
probably benign |
Het |
| Klhl30 |
G |
T |
1: 91,285,130 (GRCm39) |
V329F |
possibly damaging |
Het |
| Krt33a |
A |
G |
11: 99,902,765 (GRCm39) |
I353T |
probably damaging |
Het |
| Lrrc37 |
G |
T |
11: 103,507,116 (GRCm39) |
H1617Q |
unknown |
Het |
| Lrrc7 |
T |
C |
3: 157,892,657 (GRCm39) |
T331A |
probably benign |
Het |
| Megf10 |
G |
T |
18: 57,385,925 (GRCm39) |
V313F |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,395,978 (GRCm39) |
T1438A |
|
Het |
| Myocd |
A |
G |
11: 65,109,429 (GRCm39) |
L114P |
probably damaging |
Het |
| Or5b21 |
A |
T |
19: 12,839,141 (GRCm39) |
M1L |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,112,503 (GRCm39) |
E29G |
probably damaging |
Het |
| Por |
G |
T |
5: 135,758,358 (GRCm39) |
A112S |
probably damaging |
Het |
| Prkcq |
T |
C |
2: 11,304,221 (GRCm39) |
F651S |
probably damaging |
Het |
| Selenoi |
A |
G |
5: 30,471,926 (GRCm39) |
I376V |
possibly damaging |
Het |
| Setbp1 |
A |
C |
18: 78,899,707 (GRCm39) |
M1320R |
probably benign |
Het |
| Skint6 |
A |
T |
4: 113,034,243 (GRCm39) |
|
probably null |
Het |
| Tdrd6 |
T |
C |
17: 43,938,817 (GRCm39) |
T744A |
probably benign |
Het |
| Tmem209 |
C |
T |
6: 30,508,469 (GRCm39) |
W61* |
probably null |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Top1 |
A |
T |
2: 160,554,762 (GRCm39) |
|
probably null |
Het |
| Tradd |
T |
C |
8: 105,987,196 (GRCm39) |
K37E |
possibly damaging |
Het |
| Ttc28 |
C |
A |
5: 111,371,995 (GRCm39) |
L846M |
probably damaging |
Het |
| Umodl1 |
T |
A |
17: 31,207,031 (GRCm39) |
C807* |
probably null |
Het |
| Upf2 |
T |
A |
2: 5,978,347 (GRCm39) |
S404T |
unknown |
Het |
| Wscd1 |
T |
C |
11: 71,650,799 (GRCm39) |
L42P |
possibly 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 |
|
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 |
|
|
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'- AAATGTATTCCCACCTGCCCTG -3'
(R):5'- ATATATACTGCTGTTGGCTCTTCCG -3'
Sequencing Primer
(F):5'- AGGAACGGGACCAGCTTC -3'
(R):5'- GTCCTGTAGATCCTTGCCAAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation