Incidental Mutation 'R6335:Cdk5rap2'
| ID |
512898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk5rap2
|
| Ensembl Gene |
ENSMUSG00000039298 |
| Gene Name |
CDK5 regulatory subunit associated protein 2 |
| Synonyms |
an, 2900018K03Rik |
| MMRRC Submission |
044489-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.392)
|
| Stock # |
R6335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
70135092-70328672 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 70184849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1200
(D1200E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076541]
[ENSMUST00000138561]
[ENSMUST00000144099]
|
| AlphaFold |
Q8K389 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076541
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138561
|
| SMART Domains |
Protein: ENSMUSP00000116928
Gene: ENSMUSG00000039298
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BRLZ
|
228 |
284 |
1e-13 |
BLAST |
|
low complexity region
|
297 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144099
AA Change: D1200E
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119891
Gene: ENSMUSG00000039298
AA Change: D1200E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cnn_1N
|
58 |
130 |
3.6e-26 |
PFAM |
|
coiled coil region
|
210 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
381 |
N/A |
INTRINSIC |
|
coiled coil region
|
388 |
462 |
N/A |
INTRINSIC |
|
coiled coil region
|
569 |
616 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
800 |
N/A |
INTRINSIC |
|
coiled coil region
|
960 |
1001 |
N/A |
INTRINSIC |
|
coiled coil region
|
1112 |
1140 |
N/A |
INTRINSIC |
|
coiled coil region
|
1200 |
1237 |
N/A |
INTRINSIC |
|
Blast:BRLZ
|
1479 |
1535 |
6e-13 |
BLAST |
|
low complexity region
|
1548 |
1565 |
N/A |
INTRINSIC |
|
low complexity region
|
1619 |
1637 |
N/A |
INTRINSIC |
|
low complexity region
|
1700 |
1711 |
N/A |
INTRINSIC |
|
low complexity region
|
1811 |
1822 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death. Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(22) : Targeted, other(1) Gene trapped(20) Radiation induced(1)
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11a |
T |
C |
8: 12,909,481 (GRCm39) |
|
probably null |
Het |
| Best3 |
G |
T |
10: 116,838,556 (GRCm39) |
V205F |
probably benign |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,960 (GRCm39) |
H210R |
probably damaging |
Het |
| Camkv |
T |
C |
9: 107,823,894 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
A |
18: 67,967,784 (GRCm39) |
I756N |
probably damaging |
Het |
| Crocc2 |
A |
T |
1: 93,130,560 (GRCm39) |
Q947L |
probably benign |
Het |
| Dcaf1 |
A |
G |
9: 106,715,845 (GRCm39) |
T321A |
possibly damaging |
Het |
| Dgkz |
T |
C |
2: 91,774,724 (GRCm39) |
M87V |
probably benign |
Het |
| Dmrt2 |
T |
A |
19: 25,650,935 (GRCm39) |
S40R |
possibly damaging |
Het |
| Dpep1 |
T |
G |
8: 123,927,391 (GRCm39) |
L315R |
probably damaging |
Het |
| Fam221b |
G |
T |
4: 43,665,942 (GRCm39) |
T223N |
possibly damaging |
Het |
| Fasn |
A |
T |
11: 120,706,185 (GRCm39) |
V1053E |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,208,973 (GRCm39) |
D227G |
probably damaging |
Het |
| Grik1 |
A |
G |
16: 87,744,794 (GRCm39) |
L486P |
probably damaging |
Het |
| Grik5 |
A |
G |
7: 24,713,019 (GRCm39) |
S836P |
probably benign |
Het |
| Grpel2 |
T |
C |
18: 61,852,792 (GRCm39) |
K70R |
possibly damaging |
Het |
| Ipo7 |
A |
G |
7: 109,617,675 (GRCm39) |
D15G |
possibly damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,377,772 (GRCm39) |
Y1284H |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,138,072 (GRCm39) |
S692P |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,034,905 (GRCm39) |
L447P |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,550,384 (GRCm39) |
D680G |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,572,004 (GRCm39) |
I172F |
unknown |
Het |
| Musk |
A |
G |
4: 58,366,811 (GRCm39) |
I476M |
probably benign |
Het |
| Myef2 |
T |
C |
2: 124,951,632 (GRCm39) |
T268A |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,563,060 (GRCm39) |
S702P |
probably damaging |
Het |
| Napa |
G |
T |
7: 15,849,562 (GRCm39) |
S258I |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,504,132 (GRCm39) |
I1039F |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,228,902 (GRCm39) |
S1238G |
probably benign |
Het |
| Or10q12 |
T |
C |
19: 13,746,144 (GRCm39) |
V146A |
probably benign |
Het |
| Or1j12 |
A |
G |
2: 36,342,734 (GRCm39) |
I46V |
probably benign |
Het |
| Or5w8 |
T |
A |
2: 87,687,811 (GRCm39) |
C97* |
probably null |
Het |
| Pacs1 |
G |
T |
19: 5,210,005 (GRCm39) |
N215K |
probably damaging |
Het |
| Parp10 |
A |
G |
15: 76,126,388 (GRCm39) |
S267P |
probably benign |
Het |
| Pbrm1 |
G |
T |
14: 30,806,052 (GRCm39) |
C995F |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 58,099,607 (GRCm39) |
|
probably null |
Het |
| Ppef2 |
T |
C |
5: 92,383,613 (GRCm39) |
Y499C |
probably damaging |
Het |
| Pramel16 |
G |
T |
4: 143,675,602 (GRCm39) |
T408K |
probably benign |
Het |
| Prex2 |
A |
C |
1: 11,180,544 (GRCm39) |
I370L |
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,872,420 (GRCm39) |
Y1350H |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,124,351 (GRCm39) |
K284E |
probably damaging |
Het |
| Rexo1 |
A |
T |
10: 80,379,915 (GRCm39) |
Y23N |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sash3 |
C |
T |
X: 47,248,398 (GRCm39) |
L307F |
probably damaging |
Homo |
| Scn9a |
T |
A |
2: 66,398,608 (GRCm39) |
M1L |
possibly damaging |
Het |
| Serpinb6e |
C |
A |
13: 34,021,805 (GRCm39) |
L174F |
probably benign |
Het |
| Siae |
C |
T |
9: 37,544,277 (GRCm39) |
T275I |
probably benign |
Het |
| Sptbn5 |
C |
A |
2: 119,884,900 (GRCm39) |
|
probably benign |
Het |
| Ss18l2 |
C |
T |
9: 121,541,672 (GRCm39) |
T55I |
probably damaging |
Het |
| Taf1c |
A |
G |
8: 120,328,518 (GRCm39) |
C163R |
probably damaging |
Het |
| Tanc2 |
C |
T |
11: 105,748,382 (GRCm39) |
R505W |
probably damaging |
Het |
| Tango6 |
C |
A |
8: 107,419,308 (GRCm39) |
P285Q |
possibly damaging |
Het |
| Tdrd9 |
G |
T |
12: 112,008,186 (GRCm39) |
|
probably null |
Het |
| Tead3 |
A |
T |
17: 28,552,299 (GRCm39) |
L307H |
probably damaging |
Het |
| Ticrr |
A |
C |
7: 79,344,031 (GRCm39) |
|
probably null |
Het |
| Trpc4 |
T |
C |
3: 54,224,995 (GRCm39) |
|
probably null |
Het |
| Upb1 |
A |
T |
10: 75,264,135 (GRCm39) |
T194S |
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,470,512 (GRCm39) |
N566S |
probably benign |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,887 (GRCm39) |
S175R |
probably benign |
Het |
| Zscan29 |
T |
C |
2: 120,991,917 (GRCm39) |
N589D |
possibly damaging |
Het |
|
| Other mutations in Cdk5rap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Cdk5rap2
|
APN |
4 |
70,321,709 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01305:Cdk5rap2
|
APN |
4 |
70,298,472 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01987:Cdk5rap2
|
APN |
4 |
70,220,319 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02213:Cdk5rap2
|
APN |
4 |
70,235,839 (GRCm39) |
splice site |
probably benign |
|
|
IGL02732:Cdk5rap2
|
APN |
4 |
70,184,902 (GRCm39) |
nonsense |
probably null |
|
|
IGL03063:Cdk5rap2
|
APN |
4 |
70,273,114 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03244:Cdk5rap2
|
APN |
4 |
70,199,672 (GRCm39) |
missense |
probably benign |
0.19 |
|
ANU22:Cdk5rap2
|
UTSW |
4 |
70,298,472 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
F5426:Cdk5rap2
|
UTSW |
4 |
70,173,040 (GRCm39) |
missense |
probably benign |
|
|
R0010:Cdk5rap2
|
UTSW |
4 |
70,161,696 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0010:Cdk5rap2
|
UTSW |
4 |
70,161,696 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0044:Cdk5rap2
|
UTSW |
4 |
70,279,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Cdk5rap2
|
UTSW |
4 |
70,279,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Cdk5rap2
|
UTSW |
4 |
70,328,506 (GRCm39) |
start gained |
probably benign |
|
|
R0548:Cdk5rap2
|
UTSW |
4 |
70,267,379 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0594:Cdk5rap2
|
UTSW |
4 |
70,273,050 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0737:Cdk5rap2
|
UTSW |
4 |
70,255,612 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0788:Cdk5rap2
|
UTSW |
4 |
70,225,468 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0960:Cdk5rap2
|
UTSW |
4 |
70,161,745 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1682:Cdk5rap2
|
UTSW |
4 |
70,220,387 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1727:Cdk5rap2
|
UTSW |
4 |
70,208,209 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1727:Cdk5rap2
|
UTSW |
4 |
70,190,916 (GRCm39) |
missense |
probably benign |
|
|
R1768:Cdk5rap2
|
UTSW |
4 |
70,225,470 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1903:Cdk5rap2
|
UTSW |
4 |
70,321,791 (GRCm39) |
splice site |
probably null |
|
|
R2270:Cdk5rap2
|
UTSW |
4 |
70,184,915 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2271:Cdk5rap2
|
UTSW |
4 |
70,184,915 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2272:Cdk5rap2
|
UTSW |
4 |
70,184,915 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2364:Cdk5rap2
|
UTSW |
4 |
70,279,046 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2763:Cdk5rap2
|
UTSW |
4 |
70,199,508 (GRCm39) |
missense |
probably benign |
|
|
R2893:Cdk5rap2
|
UTSW |
4 |
70,208,110 (GRCm39) |
missense |
probably benign |
|
|
R2894:Cdk5rap2
|
UTSW |
4 |
70,208,110 (GRCm39) |
missense |
probably benign |
|
|
R2958:Cdk5rap2
|
UTSW |
4 |
70,208,214 (GRCm39) |
frame shift |
probably null |
|
|
R2959:Cdk5rap2
|
UTSW |
4 |
70,208,214 (GRCm39) |
frame shift |
probably null |
|
|
R2961:Cdk5rap2
|
UTSW |
4 |
70,208,214 (GRCm39) |
frame shift |
probably null |
|
|
R2962:Cdk5rap2
|
UTSW |
4 |
70,208,214 (GRCm39) |
frame shift |
probably null |
|
|
R2963:Cdk5rap2
|
UTSW |
4 |
70,208,214 (GRCm39) |
frame shift |
probably null |
|
|
R3522:Cdk5rap2
|
UTSW |
4 |
70,168,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3725:Cdk5rap2
|
UTSW |
4 |
70,153,674 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3726:Cdk5rap2
|
UTSW |
4 |
70,153,674 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3876:Cdk5rap2
|
UTSW |
4 |
70,208,214 (GRCm39) |
frame shift |
probably null |
|
|
R3919:Cdk5rap2
|
UTSW |
4 |
70,298,460 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4025:Cdk5rap2
|
UTSW |
4 |
70,168,624 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4324:Cdk5rap2
|
UTSW |
4 |
70,271,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4485:Cdk5rap2
|
UTSW |
4 |
70,157,520 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4516:Cdk5rap2
|
UTSW |
4 |
70,194,952 (GRCm39) |
splice site |
probably null |
|
|
R4556:Cdk5rap2
|
UTSW |
4 |
70,157,549 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4560:Cdk5rap2
|
UTSW |
4 |
70,233,568 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4584:Cdk5rap2
|
UTSW |
4 |
70,184,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Cdk5rap2
|
UTSW |
4 |
70,184,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4639:Cdk5rap2
|
UTSW |
4 |
70,220,413 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4755:Cdk5rap2
|
UTSW |
4 |
70,156,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Cdk5rap2
|
UTSW |
4 |
70,146,829 (GRCm39) |
splice site |
probably null |
|
|
R5116:Cdk5rap2
|
UTSW |
4 |
70,225,475 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5449:Cdk5rap2
|
UTSW |
4 |
70,194,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5643:Cdk5rap2
|
UTSW |
4 |
70,184,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5899:Cdk5rap2
|
UTSW |
4 |
70,161,830 (GRCm39) |
splice site |
probably benign |
|
|
R6177:Cdk5rap2
|
UTSW |
4 |
70,199,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6254:Cdk5rap2
|
UTSW |
4 |
70,282,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Cdk5rap2
|
UTSW |
4 |
70,153,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6534:Cdk5rap2
|
UTSW |
4 |
70,273,050 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6857:Cdk5rap2
|
UTSW |
4 |
70,163,633 (GRCm39) |
nonsense |
probably null |
|
|
R6959:Cdk5rap2
|
UTSW |
4 |
70,278,906 (GRCm39) |
splice site |
probably null |
|
|
R7104:Cdk5rap2
|
UTSW |
4 |
70,267,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7145:Cdk5rap2
|
UTSW |
4 |
70,156,468 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7223:Cdk5rap2
|
UTSW |
4 |
70,153,684 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7234:Cdk5rap2
|
UTSW |
4 |
70,295,024 (GRCm39) |
splice site |
probably null |
|
|
R7240:Cdk5rap2
|
UTSW |
4 |
70,210,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7247:Cdk5rap2
|
UTSW |
4 |
70,255,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Cdk5rap2
|
UTSW |
4 |
70,208,262 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7413:Cdk5rap2
|
UTSW |
4 |
70,172,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7576:Cdk5rap2
|
UTSW |
4 |
70,185,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8236:Cdk5rap2
|
UTSW |
4 |
70,160,722 (GRCm39) |
missense |
probably benign |
|
|
R8434:Cdk5rap2
|
UTSW |
4 |
70,282,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8688:Cdk5rap2
|
UTSW |
4 |
70,298,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8706:Cdk5rap2
|
UTSW |
4 |
70,157,562 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8731:Cdk5rap2
|
UTSW |
4 |
70,163,747 (GRCm39) |
splice site |
probably benign |
|
|
R8782:Cdk5rap2
|
UTSW |
4 |
70,161,712 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8855:Cdk5rap2
|
UTSW |
4 |
70,218,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8965:Cdk5rap2
|
UTSW |
4 |
70,185,042 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9242:Cdk5rap2
|
UTSW |
4 |
70,255,583 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9308:Cdk5rap2
|
UTSW |
4 |
70,328,504 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R9396:Cdk5rap2
|
UTSW |
4 |
70,182,895 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9396:Cdk5rap2
|
UTSW |
4 |
70,172,903 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9507:Cdk5rap2
|
UTSW |
4 |
70,210,110 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Cdk5rap2
|
UTSW |
4 |
70,184,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAACCTGCAAGCCTAATG -3'
(R):5'- TGGAAGGCTACCGGAACATC -3'
Sequencing Primer
(F):5'- CTAATGAGGAGGATGAAGCAGG -3'
(R):5'- GGAACATCATTGTCCAGCTACTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation