Incidental Mutation 'R9703:Crocc2'
| ID |
729645 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R9703 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
93096447-93158794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 93130444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 908
(D908E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000138595]
|
| AlphaFold |
F6XLV1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138595
AA Change: D908E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120588
Gene: ENSMUSG00000084989
AA Change: D908E
| 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: 99.9%
- 10x: 99.3%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
A |
8: 41,248,971 (GRCm39) |
N360K |
probably damaging |
Het |
| Aoc1l2 |
A |
G |
6: 48,909,629 (GRCm39) |
T625A |
probably benign |
Het |
| Apob |
T |
A |
12: 8,030,507 (GRCm39) |
L82Q |
probably damaging |
Het |
| Arhgap30 |
T |
G |
1: 171,235,339 (GRCm39) |
L571R |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,162,431 (GRCm39) |
C493Y |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 85,952,830 (GRCm39) |
T984A |
possibly damaging |
Het |
| Btbd9 |
A |
G |
17: 30,749,200 (GRCm39) |
V38A |
possibly damaging |
Het |
| Crybg3 |
C |
G |
16: 59,375,939 (GRCm39) |
A58P |
probably damaging |
Het |
| Cts7 |
T |
C |
13: 61,504,350 (GRCm39) |
N71S |
probably damaging |
Het |
| Ddx46 |
A |
G |
13: 55,824,635 (GRCm39) |
Y962C |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,517,540 (GRCm39) |
R1373C |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,781,989 (GRCm39) |
*2043R |
probably null |
Het |
| Efs |
A |
T |
14: 55,156,871 (GRCm39) |
V388E |
possibly damaging |
Het |
| Esyt1 |
C |
T |
10: 128,354,796 (GRCm39) |
|
probably null |
Het |
| Extl3 |
G |
T |
14: 65,292,103 (GRCm39) |
R907S |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,806,400 (GRCm39) |
V2123M |
probably damaging |
Het |
| Gas2l3 |
C |
T |
10: 89,249,943 (GRCm39) |
A392T |
probably benign |
Het |
| Golm1 |
A |
T |
13: 59,797,433 (GRCm39) |
D137E |
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,124,988 (GRCm39) |
D140G |
possibly damaging |
Het |
| H2ac19 |
G |
A |
3: 96,147,557 (GRCm39) |
R4C |
probably benign |
Het |
| Hrh1 |
G |
A |
6: 114,457,979 (GRCm39) |
C420Y |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,459,063 (GRCm39) |
L316Q |
probably damaging |
Het |
| Iws1 |
T |
A |
18: 32,212,738 (GRCm39) |
D55E |
probably damaging |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Klrc2 |
G |
C |
6: 129,633,407 (GRCm39) |
S215* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,425,535 (GRCm39) |
T4727A |
possibly damaging |
Het |
| Nsd3 |
T |
C |
8: 26,131,228 (GRCm39) |
S198P |
probably benign |
Het |
| Or2n1b |
A |
T |
17: 38,459,856 (GRCm39) |
I126F |
possibly damaging |
Het |
| Or6c214 |
A |
T |
10: 129,591,286 (GRCm39) |
I11N |
possibly damaging |
Het |
| Ovch2 |
T |
A |
7: 107,383,777 (GRCm39) |
I523F |
probably damaging |
Het |
| Pals1 |
T |
A |
12: 78,843,850 (GRCm39) |
I18K |
probably benign |
Het |
| Pcdhb1 |
T |
A |
18: 37,399,019 (GRCm39) |
D323E |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,826,142 (GRCm39) |
|
probably null |
Het |
| Pigc |
T |
A |
1: 161,798,176 (GRCm39) |
F53I |
probably benign |
Het |
| Pramel29 |
T |
A |
4: 143,939,510 (GRCm39) |
D9V |
probably damaging |
Het |
| Prph2 |
G |
A |
17: 47,234,447 (GRCm39) |
A339T |
unknown |
Het |
| Prrc2a |
T |
C |
17: 35,378,320 (GRCm39) |
K452E |
unknown |
Het |
| Rab36 |
T |
C |
10: 74,886,474 (GRCm39) |
W151R |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,100,283 (GRCm39) |
T1438A |
possibly damaging |
Het |
| Slc25a17 |
A |
T |
15: 81,224,193 (GRCm39) |
I55K |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,739,744 (GRCm39) |
I3401N |
possibly damaging |
Het |
| Smpd3 |
T |
A |
8: 106,991,713 (GRCm39) |
H280L |
probably damaging |
Het |
| Srsf10 |
A |
G |
4: 135,591,153 (GRCm39) |
H202R |
probably benign |
Het |
| Swap70 |
C |
T |
7: 109,872,512 (GRCm39) |
R376C |
probably damaging |
Het |
| Syde1 |
G |
T |
10: 78,421,557 (GRCm39) |
L665M |
probably damaging |
Het |
| Tha1 |
A |
G |
11: 117,761,863 (GRCm39) |
V126A |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,293,938 (GRCm39) |
H230R |
probably damaging |
Het |
| Tnc |
G |
A |
4: 63,889,412 (GRCm39) |
A1698V |
probably benign |
Het |
| Twist2 |
C |
A |
1: 91,729,744 (GRCm39) |
S132R |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,732,092 (GRCm39) |
C1170Y |
probably damaging |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
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 |
|
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 |
|
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'- TCAGGAGCACCTTAAGACCTG -3'
(R):5'- ATCACCTGCTGCATCTCGTG -3'
Sequencing Primer
(F):5'- GCACCTTAAGACCTGCTGGATTTTAG -3'
(R):5'- ATCTCGTGCTCCAGCTGAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation