Incidental Mutation 'R5227:Camsap2'
ID |
402653 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camsap2
|
Ensembl Gene |
ENSMUSG00000041570 |
Gene Name |
calmodulin regulated spectrin-associated protein family, member 2 |
Synonyms |
1600013L13Rik, 4930541M15Rik, Camsap1l1 |
MMRRC Submission |
042800-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.671)
|
Stock # |
R5227 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
136195861-136273842 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 136202629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048309]
[ENSMUST00000192001]
[ENSMUST00000192314]
|
AlphaFold |
Q8C1B1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048309
|
SMART Domains |
Protein: ENSMUSP00000041920 Gene: ENSMUSG00000041570
Domain | Start | End | E-Value | Type |
Pfam:CAMSAP_CH
|
239 |
322 |
3.6e-37 |
PFAM |
low complexity region
|
379 |
388 |
N/A |
INTRINSIC |
low complexity region
|
397 |
410 |
N/A |
INTRINSIC |
low complexity region
|
483 |
491 |
N/A |
INTRINSIC |
low complexity region
|
671 |
690 |
N/A |
INTRINSIC |
low complexity region
|
706 |
711 |
N/A |
INTRINSIC |
Pfam:CAMSAP_CC1
|
738 |
795 |
7.3e-28 |
PFAM |
coiled coil region
|
878 |
916 |
N/A |
INTRINSIC |
low complexity region
|
922 |
929 |
N/A |
INTRINSIC |
low complexity region
|
943 |
956 |
N/A |
INTRINSIC |
low complexity region
|
1028 |
1043 |
N/A |
INTRINSIC |
low complexity region
|
1093 |
1107 |
N/A |
INTRINSIC |
coiled coil region
|
1155 |
1227 |
N/A |
INTRINSIC |
low complexity region
|
1242 |
1256 |
N/A |
INTRINSIC |
CAMSAP_CKK
|
1337 |
1466 |
1.59e-86 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181385
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192001
|
SMART Domains |
Protein: ENSMUSP00000142166 Gene: ENSMUSG00000041570
Domain | Start | End | E-Value | Type |
Pfam:CH
|
178 |
324 |
1.1e-37 |
PFAM |
Pfam:CAMSAP_CH
|
222 |
305 |
2.7e-36 |
PFAM |
low complexity region
|
362 |
371 |
N/A |
INTRINSIC |
low complexity region
|
380 |
393 |
N/A |
INTRINSIC |
low complexity region
|
466 |
474 |
N/A |
INTRINSIC |
low complexity region
|
654 |
673 |
N/A |
INTRINSIC |
low complexity region
|
689 |
694 |
N/A |
INTRINSIC |
coiled coil region
|
729 |
767 |
N/A |
INTRINSIC |
coiled coil region
|
861 |
899 |
N/A |
INTRINSIC |
low complexity region
|
905 |
912 |
N/A |
INTRINSIC |
low complexity region
|
926 |
939 |
N/A |
INTRINSIC |
low complexity region
|
1011 |
1026 |
N/A |
INTRINSIC |
low complexity region
|
1076 |
1090 |
N/A |
INTRINSIC |
coiled coil region
|
1138 |
1210 |
N/A |
INTRINSIC |
low complexity region
|
1225 |
1239 |
N/A |
INTRINSIC |
CAMSAP_CKK
|
1320 |
1449 |
1.59e-86 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192314
|
SMART Domains |
Protein: ENSMUSP00000142299 Gene: ENSMUSG00000041570
Domain | Start | End | E-Value | Type |
Pfam:CH
|
178 |
335 |
1.2e-35 |
PFAM |
Pfam:CAMSAP_CH
|
233 |
316 |
3.2e-34 |
PFAM |
low complexity region
|
373 |
382 |
N/A |
INTRINSIC |
low complexity region
|
391 |
404 |
N/A |
INTRINSIC |
low complexity region
|
477 |
485 |
N/A |
INTRINSIC |
low complexity region
|
665 |
684 |
N/A |
INTRINSIC |
low complexity region
|
700 |
705 |
N/A |
INTRINSIC |
coiled coil region
|
740 |
778 |
N/A |
INTRINSIC |
coiled coil region
|
872 |
910 |
N/A |
INTRINSIC |
low complexity region
|
916 |
923 |
N/A |
INTRINSIC |
low complexity region
|
937 |
950 |
N/A |
INTRINSIC |
low complexity region
|
1022 |
1037 |
N/A |
INTRINSIC |
low complexity region
|
1087 |
1101 |
N/A |
INTRINSIC |
coiled coil region
|
1149 |
1221 |
N/A |
INTRINSIC |
low complexity region
|
1236 |
1250 |
N/A |
INTRINSIC |
CAMSAP_CKK
|
1331 |
1460 |
1.2e-90 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000194808
AA Change: I604T
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.2%
- 20x: 97.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
T |
C |
17: 84,999,249 (GRCm39) |
L115P |
probably damaging |
Het |
Adgrb3 |
A |
C |
1: 25,133,033 (GRCm39) |
M481R |
possibly damaging |
Het |
Adgrd1 |
C |
A |
5: 129,199,647 (GRCm39) |
N161K |
probably benign |
Het |
Alx4 |
T |
A |
2: 93,507,725 (GRCm39) |
V340D |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,407,716 (GRCm39) |
S2264P |
unknown |
Het |
Azi2 |
A |
T |
9: 117,876,526 (GRCm39) |
H14L |
probably damaging |
Het |
Ccpg1 |
T |
A |
9: 72,919,354 (GRCm39) |
L323* |
probably null |
Het |
Cpsf1 |
A |
T |
15: 76,483,148 (GRCm39) |
I943N |
probably damaging |
Het |
Crebrf |
T |
A |
17: 26,978,739 (GRCm39) |
Y476N |
probably damaging |
Het |
Defb10 |
T |
A |
8: 22,351,894 (GRCm39) |
Y46* |
probably null |
Het |
Dock3 |
A |
G |
9: 106,863,269 (GRCm39) |
L703P |
probably damaging |
Het |
Ebf2 |
A |
T |
14: 67,484,518 (GRCm39) |
I181F |
probably damaging |
Het |
Eif3e |
T |
A |
15: 43,114,917 (GRCm39) |
M420L |
probably benign |
Het |
Emilin3 |
T |
A |
2: 160,751,185 (GRCm39) |
Q188L |
probably damaging |
Het |
Fbxl4 |
C |
T |
4: 22,376,840 (GRCm39) |
T92M |
probably damaging |
Het |
Fer1l6 |
C |
T |
15: 58,453,752 (GRCm39) |
Q687* |
probably null |
Het |
Fkrp |
T |
C |
7: 16,544,635 (GRCm39) |
E409G |
possibly damaging |
Het |
Fzd9 |
T |
C |
5: 135,278,460 (GRCm39) |
D475G |
probably benign |
Het |
Gabbr1 |
C |
T |
17: 37,380,958 (GRCm39) |
T767I |
possibly damaging |
Het |
Gdf2 |
G |
A |
14: 33,663,451 (GRCm39) |
|
probably null |
Het |
Gpatch1 |
T |
C |
7: 35,008,776 (GRCm39) |
N82D |
probably benign |
Het |
Heg1 |
T |
A |
16: 33,583,961 (GRCm39) |
L1256Q |
probably damaging |
Het |
Ireb2 |
T |
A |
9: 54,803,885 (GRCm39) |
|
probably null |
Het |
Kansl1 |
T |
G |
11: 104,247,640 (GRCm39) |
H570P |
probably benign |
Het |
Kcna10 |
T |
G |
3: 107,101,744 (GRCm39) |
M125R |
probably damaging |
Het |
Lrp1b |
T |
G |
2: 40,741,805 (GRCm39) |
I3041L |
possibly damaging |
Het |
Mbtd1 |
T |
C |
11: 93,815,474 (GRCm39) |
F354S |
possibly damaging |
Het |
Mideas |
A |
T |
12: 84,199,661 (GRCm39) |
F1020I |
probably benign |
Het |
Mov10 |
T |
C |
3: 104,709,894 (GRCm39) |
T331A |
probably benign |
Het |
Ms4a8a |
A |
T |
19: 11,045,780 (GRCm39) |
S243T |
probably damaging |
Het |
Ndufa11 |
T |
C |
17: 57,024,867 (GRCm39) |
S10P |
probably benign |
Het |
Olfml3 |
A |
G |
3: 103,643,737 (GRCm39) |
Y215H |
possibly damaging |
Het |
Or2t45 |
T |
A |
11: 58,669,705 (GRCm39) |
F251I |
possibly damaging |
Het |
Or56b2j |
A |
G |
7: 104,353,529 (GRCm39) |
I252V |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,763,574 (GRCm39) |
S4016P |
probably benign |
Het |
Pcyox1 |
G |
C |
6: 86,368,726 (GRCm39) |
A264G |
probably damaging |
Het |
Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
Pnisr |
A |
G |
4: 21,874,587 (GRCm39) |
|
probably benign |
Het |
Prc1 |
T |
C |
7: 79,962,927 (GRCm39) |
S574P |
probably damaging |
Het |
Ranbp3l |
T |
A |
15: 9,037,186 (GRCm39) |
V16D |
probably damaging |
Het |
Rfx1 |
T |
C |
8: 84,800,687 (GRCm39) |
V96A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sfmbt1 |
T |
C |
14: 30,537,211 (GRCm39) |
|
probably null |
Het |
Siglecf |
T |
C |
7: 43,001,364 (GRCm39) |
Y111H |
probably damaging |
Het |
Snx14 |
G |
A |
9: 88,280,347 (GRCm39) |
T536I |
possibly damaging |
Het |
Spindoc |
A |
G |
19: 7,351,512 (GRCm39) |
V204A |
probably benign |
Het |
Sptbn5 |
A |
G |
2: 119,915,812 (GRCm39) |
|
probably benign |
Het |
Swt1 |
G |
A |
1: 151,278,727 (GRCm39) |
Q227* |
probably null |
Het |
Tg |
A |
G |
15: 66,631,416 (GRCm39) |
I562V |
possibly damaging |
Het |
Trip11 |
T |
A |
12: 101,851,179 (GRCm39) |
I677F |
probably damaging |
Het |
Vmn1r49 |
G |
A |
6: 90,049,753 (GRCm39) |
T83I |
probably benign |
Het |
Vmn1r90 |
T |
C |
7: 14,295,601 (GRCm39) |
K166E |
possibly damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,269,819 (GRCm39) |
I25T |
possibly damaging |
Het |
Vps13d |
A |
T |
4: 144,907,777 (GRCm39) |
|
probably null |
Het |
Zfp106 |
T |
C |
2: 120,354,449 (GRCm39) |
I170V |
probably benign |
Het |
|
Other mutations in Camsap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01306:Camsap2
|
APN |
1 |
136,225,528 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02727:Camsap2
|
APN |
1 |
136,232,050 (GRCm39) |
missense |
probably benign |
|
IGL02803:Camsap2
|
APN |
1 |
136,208,861 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03037:Camsap2
|
APN |
1 |
136,202,595 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03124:Camsap2
|
APN |
1 |
136,202,537 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03189:Camsap2
|
APN |
1 |
136,209,400 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03297:Camsap2
|
APN |
1 |
136,225,539 (GRCm39) |
missense |
probably benign |
|
IGL03347:Camsap2
|
APN |
1 |
136,208,724 (GRCm39) |
missense |
possibly damaging |
0.52 |
ANU23:Camsap2
|
UTSW |
1 |
136,225,528 (GRCm39) |
missense |
probably benign |
0.23 |
PIT4366001:Camsap2
|
UTSW |
1 |
136,208,055 (GRCm39) |
missense |
|
|
R0001:Camsap2
|
UTSW |
1 |
136,210,626 (GRCm39) |
unclassified |
probably benign |
|
R0037:Camsap2
|
UTSW |
1 |
136,209,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R0140:Camsap2
|
UTSW |
1 |
136,208,120 (GRCm39) |
missense |
probably benign |
|
R0194:Camsap2
|
UTSW |
1 |
136,220,686 (GRCm39) |
nonsense |
probably null |
|
R0206:Camsap2
|
UTSW |
1 |
136,208,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0208:Camsap2
|
UTSW |
1 |
136,208,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0517:Camsap2
|
UTSW |
1 |
136,221,126 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0648:Camsap2
|
UTSW |
1 |
136,232,057 (GRCm39) |
missense |
probably damaging |
0.96 |
R0735:Camsap2
|
UTSW |
1 |
136,220,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R0790:Camsap2
|
UTSW |
1 |
136,201,475 (GRCm39) |
splice site |
probably benign |
|
R0880:Camsap2
|
UTSW |
1 |
136,208,708 (GRCm39) |
missense |
probably benign |
0.08 |
R1559:Camsap2
|
UTSW |
1 |
136,209,832 (GRCm39) |
missense |
probably benign |
0.02 |
R1728:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1730:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1739:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1762:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1783:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1784:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1785:Camsap2
|
UTSW |
1 |
136,209,053 (GRCm39) |
missense |
probably benign |
0.00 |
R1823:Camsap2
|
UTSW |
1 |
136,201,521 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1824:Camsap2
|
UTSW |
1 |
136,201,521 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1997:Camsap2
|
UTSW |
1 |
136,199,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R2010:Camsap2
|
UTSW |
1 |
136,202,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R2237:Camsap2
|
UTSW |
1 |
136,273,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R2923:Camsap2
|
UTSW |
1 |
136,208,547 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4275:Camsap2
|
UTSW |
1 |
136,198,614 (GRCm39) |
missense |
probably benign |
0.01 |
R4371:Camsap2
|
UTSW |
1 |
136,215,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R4976:Camsap2
|
UTSW |
1 |
136,232,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R5513:Camsap2
|
UTSW |
1 |
136,208,601 (GRCm39) |
missense |
probably benign |
0.23 |
R5755:Camsap2
|
UTSW |
1 |
136,210,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R5834:Camsap2
|
UTSW |
1 |
136,208,126 (GRCm39) |
missense |
probably benign |
|
R5966:Camsap2
|
UTSW |
1 |
136,204,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R6031:Camsap2
|
UTSW |
1 |
136,208,176 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6031:Camsap2
|
UTSW |
1 |
136,208,176 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6111:Camsap2
|
UTSW |
1 |
136,209,036 (GRCm39) |
missense |
probably benign |
|
R6147:Camsap2
|
UTSW |
1 |
136,273,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R6284:Camsap2
|
UTSW |
1 |
136,232,175 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6293:Camsap2
|
UTSW |
1 |
136,215,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R6306:Camsap2
|
UTSW |
1 |
136,208,937 (GRCm39) |
missense |
probably benign |
|
R6403:Camsap2
|
UTSW |
1 |
136,208,538 (GRCm39) |
nonsense |
probably null |
|
R6410:Camsap2
|
UTSW |
1 |
136,273,182 (GRCm39) |
start gained |
probably benign |
|
R6943:Camsap2
|
UTSW |
1 |
136,232,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R7268:Camsap2
|
UTSW |
1 |
136,201,483 (GRCm39) |
splice site |
probably null |
|
R7448:Camsap2
|
UTSW |
1 |
136,198,644 (GRCm39) |
missense |
|
|
R7472:Camsap2
|
UTSW |
1 |
136,209,131 (GRCm39) |
missense |
probably damaging |
0.96 |
R7478:Camsap2
|
UTSW |
1 |
136,198,678 (GRCm39) |
missense |
|
|
R7515:Camsap2
|
UTSW |
1 |
136,273,108 (GRCm39) |
missense |
probably damaging |
0.99 |
R7691:Camsap2
|
UTSW |
1 |
136,220,742 (GRCm39) |
missense |
probably damaging |
0.99 |
R7800:Camsap2
|
UTSW |
1 |
136,209,639 (GRCm39) |
missense |
probably damaging |
0.99 |
R8040:Camsap2
|
UTSW |
1 |
136,208,985 (GRCm39) |
missense |
|
|
R8188:Camsap2
|
UTSW |
1 |
136,225,132 (GRCm39) |
splice site |
probably null |
|
R8238:Camsap2
|
UTSW |
1 |
136,221,764 (GRCm39) |
missense |
probably benign |
0.03 |
R8258:Camsap2
|
UTSW |
1 |
136,208,077 (GRCm39) |
missense |
probably benign |
0.00 |
R8259:Camsap2
|
UTSW |
1 |
136,208,077 (GRCm39) |
missense |
probably benign |
0.00 |
R8537:Camsap2
|
UTSW |
1 |
136,204,943 (GRCm39) |
missense |
probably damaging |
0.99 |
R8782:Camsap2
|
UTSW |
1 |
136,204,957 (GRCm39) |
missense |
|
|
R9301:Camsap2
|
UTSW |
1 |
136,202,640 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9600:Camsap2
|
UTSW |
1 |
136,204,936 (GRCm39) |
missense |
|
|
X0018:Camsap2
|
UTSW |
1 |
136,204,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTAAGTCTTAAATCAGCAAAGC -3'
(R):5'- ACAGGAAGTTAGTTTTATTGTTGCC -3'
Sequencing Primer
(F):5'- TCAGCAAAGCTAAAAATTTGTGATG -3'
(R):5'- TGTTGCCTAAAACTTGGTTCTTAG -3'
|
Posted On |
2016-07-22 |