Incidental Mutation 'R4450:Clip2'
| ID |
328918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clip2
|
| Ensembl Gene |
ENSMUSG00000063146 |
| Gene Name |
CAP-GLY domain containing linker protein 2 |
| Synonyms |
Cyln2, WSCR4, CLIP-115 |
| MMRRC Submission |
041711-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.264)
|
| Stock # |
R4450 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
134518237-134581288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 134531807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 631
(G631D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036999]
[ENSMUST00000100647]
|
| AlphaFold |
Q9Z0H8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036999
AA Change: G631D
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037431
Gene: ENSMUSG00000063146
AA Change: G631D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
CAP_GLY
|
82 |
147 |
2.72e-30 |
SMART |
|
CAP_GLY
|
222 |
287 |
1.15e-33 |
SMART |
|
low complexity region
|
315 |
339 |
N/A |
INTRINSIC |
|
coiled coil region
|
355 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
519 |
N/A |
INTRINSIC |
|
coiled coil region
|
529 |
578 |
N/A |
INTRINSIC |
|
coiled coil region
|
640 |
982 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100647
AA Change: G666D
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098212
Gene: ENSMUSG00000063146
AA Change: G666D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
CAP_GLY
|
82 |
147 |
2.72e-30 |
SMART |
|
CAP_GLY
|
222 |
287 |
1.15e-33 |
SMART |
|
low complexity region
|
315 |
339 |
N/A |
INTRINSIC |
|
coiled coil region
|
355 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
|
coiled coil region
|
564 |
613 |
N/A |
INTRINSIC |
|
coiled coil region
|
675 |
1017 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0862 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous and heterozygous for disruptions in this gene display growth deficiency, brain abnormalities and hippocampal dysfunction and deficits in motor coordination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
| Acsl6 |
A |
G |
11: 54,219,229 (GRCm39) |
D278G |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,810,568 (GRCm39) |
R196Q |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,392,508 (GRCm39) |
F2450L |
probably damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Angel1 |
A |
T |
12: 86,768,698 (GRCm39) |
Y262N |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,487,097 (GRCm39) |
E272G |
probably damaging |
Het |
| Bpifb6 |
A |
G |
2: 153,748,688 (GRCm39) |
E228G |
possibly damaging |
Het |
| Brca2 |
T |
G |
5: 150,459,518 (GRCm39) |
D264E |
probably damaging |
Het |
| Cdca4 |
T |
C |
12: 112,785,278 (GRCm39) |
N150S |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,107,861 (GRCm39) |
S510G |
probably damaging |
Het |
| Cldn12 |
T |
C |
5: 5,558,398 (GRCm39) |
T10A |
probably damaging |
Het |
| Col19a1 |
T |
A |
1: 24,361,116 (GRCm39) |
T625S |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,781,720 (GRCm39) |
G1635D |
unknown |
Het |
| Dcp1b |
A |
G |
6: 119,183,437 (GRCm39) |
T175A |
probably benign |
Het |
| Eln |
C |
T |
5: 134,754,635 (GRCm39) |
|
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Gm9894 |
T |
A |
13: 67,913,199 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
T |
C |
7: 55,877,640 (GRCm39) |
L4569P |
probably damaging |
Het |
| Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
| Klhl42 |
G |
A |
6: 146,993,169 (GRCm39) |
G47D |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lzts2 |
A |
T |
19: 45,012,032 (GRCm39) |
K154* |
probably null |
Het |
| Map4k3 |
C |
T |
17: 80,911,411 (GRCm39) |
|
probably null |
Het |
| Mlc1 |
A |
G |
15: 88,847,693 (GRCm39) |
F285S |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,074,458 (GRCm39) |
M789K |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,306,933 (GRCm39) |
S319T |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 115,908,453 (GRCm39) |
Y702* |
probably null |
Het |
| Or8b52 |
A |
T |
9: 38,577,050 (GRCm39) |
V30E |
probably benign |
Het |
| Or8g34 |
G |
A |
9: 39,373,328 (GRCm39) |
M200I |
probably benign |
Het |
| Osbpl5 |
T |
A |
7: 143,248,643 (GRCm39) |
T640S |
probably benign |
Het |
| Plaat1 |
C |
T |
16: 29,046,976 (GRCm39) |
T165M |
possibly damaging |
Het |
| Rangrf |
A |
T |
11: 68,866,010 (GRCm39) |
|
probably benign |
Het |
| Rnpc3 |
T |
C |
3: 113,404,786 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
T |
10: 51,954,038 (GRCm39) |
G1867D |
probably damaging |
Het |
| Slc11a1 |
C |
A |
1: 74,424,694 (GRCm39) |
|
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Syt6 |
A |
G |
3: 103,492,961 (GRCm39) |
H156R |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,251,347 (GRCm39) |
|
probably null |
Het |
| Trim58 |
T |
C |
11: 58,542,191 (GRCm39) |
W384R |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
unknown |
Het |
|
| Other mutations in Clip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Clip2
|
APN |
5 |
134,529,011 (GRCm39) |
splice site |
probably benign |
|
|
IGL01024:Clip2
|
APN |
5 |
134,539,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01103:Clip2
|
APN |
5 |
134,521,204 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01726:Clip2
|
APN |
5 |
134,551,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01833:Clip2
|
APN |
5 |
134,526,938 (GRCm39) |
splice site |
probably benign |
|
|
IGL02174:Clip2
|
APN |
5 |
134,523,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02232:Clip2
|
APN |
5 |
134,531,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02271:Clip2
|
APN |
5 |
134,531,425 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02471:Clip2
|
APN |
5 |
134,546,876 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02690:Clip2
|
APN |
5 |
134,539,013 (GRCm39) |
splice site |
probably benign |
|
|
IGL03198:Clip2
|
APN |
5 |
134,526,936 (GRCm39) |
splice site |
probably benign |
|
|
IGL03269:Clip2
|
APN |
5 |
134,545,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
scissors
|
UTSW |
5 |
134,546,853 (GRCm39) |
nonsense |
probably null |
|
|
R0335:Clip2
|
UTSW |
5 |
134,564,069 (GRCm39) |
start gained |
probably benign |
|
|
R0422:Clip2
|
UTSW |
5 |
134,526,967 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0519:Clip2
|
UTSW |
5 |
134,545,005 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1169:Clip2
|
UTSW |
5 |
134,521,104 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1642:Clip2
|
UTSW |
5 |
134,532,107 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1718:Clip2
|
UTSW |
5 |
134,531,783 (GRCm39) |
nonsense |
probably null |
|
|
R1822:Clip2
|
UTSW |
5 |
134,532,081 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1824:Clip2
|
UTSW |
5 |
134,532,081 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2011:Clip2
|
UTSW |
5 |
134,531,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3106:Clip2
|
UTSW |
5 |
134,551,918 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3890:Clip2
|
UTSW |
5 |
134,551,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3891:Clip2
|
UTSW |
5 |
134,551,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3892:Clip2
|
UTSW |
5 |
134,551,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4134:Clip2
|
UTSW |
5 |
134,521,107 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4237:Clip2
|
UTSW |
5 |
134,564,051 (GRCm39) |
start gained |
probably benign |
|
|
R4239:Clip2
|
UTSW |
5 |
134,564,051 (GRCm39) |
start gained |
probably benign |
|
|
R4294:Clip2
|
UTSW |
5 |
134,521,167 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4741:Clip2
|
UTSW |
5 |
134,545,123 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5186:Clip2
|
UTSW |
5 |
134,551,645 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5235:Clip2
|
UTSW |
5 |
134,551,645 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5409:Clip2
|
UTSW |
5 |
134,551,645 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5410:Clip2
|
UTSW |
5 |
134,551,645 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5448:Clip2
|
UTSW |
5 |
134,542,902 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5900:Clip2
|
UTSW |
5 |
134,531,633 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6464:Clip2
|
UTSW |
5 |
134,520,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7032:Clip2
|
UTSW |
5 |
134,551,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7152:Clip2
|
UTSW |
5 |
134,525,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7216:Clip2
|
UTSW |
5 |
134,531,771 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7358:Clip2
|
UTSW |
5 |
134,531,484 (GRCm39) |
nonsense |
probably null |
|
|
R7725:Clip2
|
UTSW |
5 |
134,546,853 (GRCm39) |
nonsense |
probably null |
|
|
R8380:Clip2
|
UTSW |
5 |
134,531,651 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8680:Clip2
|
UTSW |
5 |
134,531,462 (GRCm39) |
missense |
probably benign |
|
|
R9095:Clip2
|
UTSW |
5 |
134,532,254 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9158:Clip2
|
UTSW |
5 |
134,521,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9277:Clip2
|
UTSW |
5 |
134,528,963 (GRCm39) |
missense |
probably benign |
|
|
R9300:Clip2
|
UTSW |
5 |
134,526,942 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9457:Clip2
|
UTSW |
5 |
134,531,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9491:Clip2
|
UTSW |
5 |
134,533,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9605:Clip2
|
UTSW |
5 |
134,533,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9630:Clip2
|
UTSW |
5 |
134,531,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9657:Clip2
|
UTSW |
5 |
134,533,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9660:Clip2
|
UTSW |
5 |
134,533,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9661:Clip2
|
UTSW |
5 |
134,533,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9662:Clip2
|
UTSW |
5 |
134,533,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9663:Clip2
|
UTSW |
5 |
134,533,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9730:Clip2
|
UTSW |
5 |
134,533,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9731:Clip2
|
UTSW |
5 |
134,533,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9732:Clip2
|
UTSW |
5 |
134,533,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9773:Clip2
|
UTSW |
5 |
134,533,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9787:Clip2
|
UTSW |
5 |
134,533,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9788:Clip2
|
UTSW |
5 |
134,533,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0062:Clip2
|
UTSW |
5 |
134,531,990 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Clip2
|
UTSW |
5 |
134,551,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Clip2
|
UTSW |
5 |
134,545,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAACTCGATGGCTTGAGC -3'
(R):5'- GGCTCATGGACAACTGGAAATC -3'
Sequencing Primer
(F):5'- CGACATTGGTCCTGGGCTTC -3'
(R):5'- CATGGACAACTGGAAATCCAAGCTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation