Incidental Mutation 'R9787:Clip2'
ID 734393
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R9787 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 134518237-134581288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 134533616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 487 (R487Q)
Ref Sequence ENSEMBL: ENSMUSP00000098212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036999] [ENSMUST00000100647]
AlphaFold Q9Z0H8
Predicted Effect probably benign
Transcript: ENSMUST00000036999
SMART Domains Protein: ENSMUSP00000037431
Gene: ENSMUSG00000063146

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000100647
AA Change: R487Q

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000098212
Gene: ENSMUSG00000063146
AA Change: R487Q

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,150,695 (GRCm39) T26A probably benign Het
Arhgap27 A G 11: 103,230,048 (GRCm39) S239P possibly damaging Het
Bambi T C 18: 3,511,515 (GRCm39) V112A possibly damaging Het
BC034090 T A 1: 155,117,955 (GRCm39) E54D possibly damaging Het
Cdin1 T A 2: 115,505,236 (GRCm39) L169Q probably damaging Het
Chst13 C T 6: 90,286,074 (GRCm39) R296H probably benign Het
Ctbs T A 3: 146,160,109 (GRCm39) V46E probably damaging Het
Cyp2b9 A G 7: 25,900,259 (GRCm39) I356V probably benign Het
Dot1l A G 10: 80,600,472 (GRCm39) T40A probably benign Het
Dst C T 1: 34,219,524 (GRCm39) T1988M probably benign Het
Fam184a T A 10: 53,626,864 (GRCm39) D38V possibly damaging Het
Fank1 T A 7: 133,463,887 (GRCm39) F83I probably damaging Het
Fto T A 8: 92,211,886 (GRCm39) W404R probably damaging Het
Gabra4 T A 5: 71,791,004 (GRCm39) R279S possibly damaging Het
Garem2 C T 5: 30,319,219 (GRCm39) P227L probably damaging Het
Gfra4 C A 2: 130,884,600 (GRCm39) M1I probably null Het
Gin1 T A 1: 97,703,211 (GRCm39) H11Q probably damaging Het
Gli3 G A 13: 15,900,386 (GRCm39) G1258R probably damaging Het
Gsx1 T C 5: 147,126,677 (GRCm39) S167P probably damaging Het
Gtf2b AATCATC AATC 3: 142,477,178 (GRCm39) probably benign Het
Il7 G A 3: 7,641,171 (GRCm39) R82C probably damaging Het
Lair1 A T 7: 4,013,794 (GRCm39) V151E probably damaging Het
Lpar1 T C 4: 58,437,349 (GRCm39) D360G probably benign Het
Malrd1 T A 2: 15,625,401 (GRCm39) N345K unknown Het
Mbnl1 T A 3: 60,503,086 (GRCm39) N82K probably damaging Het
Mtdh C A 15: 34,123,844 (GRCm39) T357N probably benign Het
Muc6 T A 7: 141,227,748 (GRCm39) K1306* probably null Het
Nsd1 T A 13: 55,461,518 (GRCm39) C2685S probably benign Het
Optn T A 2: 5,036,150 (GRCm39) Q444L probably damaging Het
Or6a2 A T 7: 106,600,899 (GRCm39) L56H probably damaging Het
Pan2 T A 10: 128,144,223 (GRCm39) D157E probably benign Het
Pole G A 5: 110,465,866 (GRCm39) probably null Het
Stau2 A T 1: 16,530,595 (GRCm39) I108N unknown Het
Sugp2 A G 8: 70,695,428 (GRCm39) K134E probably benign Het
Tcaf3 C T 6: 42,574,024 (GRCm39) V63I probably benign Het
Tcf7 T A 11: 52,173,773 (GRCm39) probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Tubb2b T C 13: 34,312,409 (GRCm39) D128G probably benign Het
Umodl1 A T 17: 31,178,324 (GRCm39) Q100L probably damaging Het
Unc79 T A 12: 103,112,620 (GRCm39) N2230K probably benign Het
Zc3hav1l T C 6: 38,272,101 (GRCm39) T223A probably benign Het
Zfhx4 G A 3: 5,455,506 (GRCm39) D1167N possibly damaging Het
Zfp36 A T 7: 28,077,344 (GRCm39) L200Q probably damaging Het
Zswim9 T A 7: 12,994,205 (GRCm39) L650F probably damaging Het
Other mutations in Clip2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4450:Clip2 UTSW 5 134,531,807 (GRCm39) missense possibly damaging 0.82
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
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'- TTGGCCACAGTGAGCTTGAC -3'
(R):5'- GTCTTGTTCACGGAAGATGACG -3'

Sequencing Primer
(F):5'- CAGTGAGCTTGACTCTAAATCTCAGC -3'
(R):5'- TTCACGGAAGATGACGCCTCC -3'
Posted On 2022-11-14