Incidental Mutation 'R6334:Cavin4'
ID 510690
Institutional Source Beutler Lab
Gene Symbol Cavin4
Ensembl Gene ENSMUSG00000028348
Gene Name caveolae associated 4
Synonyms cavin 4, Murc, 2310039E09Rik
MMRRC Submission 044488-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6334 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 48663514-48673492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48663824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 68 (V68A)
Ref Sequence ENSEMBL: ENSMUSP00000030033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030032] [ENSMUST00000030033] [ENSMUST00000123476] [ENSMUST00000130834] [ENSMUST00000141720]
AlphaFold A2AMM0
Predicted Effect probably benign
Transcript: ENSMUST00000030032
SMART Domains Protein: ENSMUSP00000030032
Gene: ENSMUSG00000028347

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
KAZAL 90 135 6.19e-19 SMART
low complexity region 140 155 N/A INTRINSIC
KAZAL 181 227 4.92e-13 SMART
EGF 266 303 1.33e-1 SMART
transmembrane domain 322 344 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000030033
AA Change: V68A

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030033
Gene: ENSMUSG00000028348
AA Change: V68A

DomainStartEndE-ValueType
Pfam:PTRF_SDPR 27 263 7.8e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123476
SMART Domains Protein: ENSMUSP00000115841
Gene: ENSMUSG00000028347

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
KAZAL 90 135 6.19e-19 SMART
low complexity region 140 155 N/A INTRINSIC
KAZAL 181 227 4.92e-13 SMART
EGF 266 303 1.33e-1 SMART
transmembrane domain 322 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130834
SMART Domains Protein: ENSMUSP00000121740
Gene: ENSMUSG00000028347

DomainStartEndE-ValueType
low complexity region 15 25 N/A INTRINSIC
KAZAL 63 108 6.19e-19 SMART
low complexity region 113 129 N/A INTRINSIC
KAZAL 155 201 4.92e-13 SMART
EGF 240 277 1.33e-1 SMART
transmembrane domain 296 318 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141720
SMART Domains Protein: ENSMUSP00000118581
Gene: ENSMUSG00000028347

DomainStartEndE-ValueType
EGF 56 93 1.33e-1 SMART
transmembrane domain 112 134 N/A INTRINSIC
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous null mice are viable and fertile with normal cardiac mass and function under physiological conditions. Phenylephrine-induced cardiac hypertrophy is suppressed in null mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,770,940 (GRCm39) S141T probably benign Het
Afap1l2 A G 19: 56,906,408 (GRCm39) probably null Het
Aox1 C T 1: 58,346,566 (GRCm39) Q567* probably null Het
Aqp4 T A 18: 15,526,648 (GRCm39) M278L probably benign Het
Atp23 A C 10: 126,723,538 (GRCm39) L188R probably benign Het
Catsperg1 C T 7: 28,905,782 (GRCm39) G215D probably benign Het
Ccl4 T C 11: 83,553,504 (GRCm39) S6P unknown Het
Cfap46 T C 7: 139,260,747 (GRCm39) E117G probably damaging Het
Cfhr4 A G 1: 139,701,662 (GRCm39) probably null Het
Chek1 A G 9: 36,625,788 (GRCm39) S286P possibly damaging Het
Cntn4 G A 6: 106,321,747 (GRCm39) V35I probably benign Het
Cntn4 C A 6: 106,483,153 (GRCm39) P236Q probably benign Het
Cyp2d40 C A 15: 82,645,753 (GRCm39) G84V probably benign Het
Dnah12 A T 14: 26,427,989 (GRCm39) H205L possibly damaging Het
Dock1 G A 7: 134,453,305 (GRCm39) V845I probably benign Het
Drg1 T C 11: 3,216,292 (GRCm39) K7E possibly damaging Het
Eloa G A 4: 135,737,133 (GRCm39) P488S probably damaging Het
Evi5 G A 5: 107,968,387 (GRCm39) R187* probably null Het
Fam53a T A 5: 33,758,219 (GRCm39) L301F probably damaging Het
Fmnl3 T C 15: 99,235,534 (GRCm39) K63E probably damaging Het
Gast C A 11: 100,227,438 (GRCm39) Q44K probably benign Het
Gng10 T A 4: 59,035,257 (GRCm39) V7E probably benign Het
Gtf3c5 G A 2: 28,460,474 (GRCm39) T375I probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hspa14 A T 2: 3,490,109 (GRCm39) probably null Het
Kcna3 T C 3: 106,943,740 (GRCm39) M1T probably null Het
Kcnj15 T G 16: 95,097,095 (GRCm39) L239R probably damaging Het
Klhl2 G T 8: 65,212,842 (GRCm39) D232E probably benign Het
Lamb3 A T 1: 193,017,782 (GRCm39) I888F probably damaging Het
Lars1 C A 18: 42,350,551 (GRCm39) M919I probably benign Het
Lfng T C 5: 140,598,522 (GRCm39) V247A possibly damaging Het
Lrp1b C T 2: 41,679,045 (GRCm39) A16T probably benign Het
Mamdc2 A T 19: 23,341,270 (GRCm39) I235N probably damaging Het
Map9 T A 3: 82,290,612 (GRCm39) L492Q probably damaging Het
Mcpt8 A G 14: 56,322,604 (GRCm39) V14A possibly damaging Het
Myo1b T C 1: 51,807,810 (GRCm39) K823R probably null Het
Nbea G T 3: 55,944,570 (GRCm39) T598K probably damaging Het
Nrcam C A 12: 44,619,083 (GRCm39) H877N probably benign Het
Nrxn2 T C 19: 6,581,322 (GRCm39) probably null Het
Nwd2 A T 5: 63,957,596 (GRCm39) I309F possibly damaging Het
Phyhd1 G A 2: 30,164,736 (GRCm39) probably null Het
Pkp2 C T 16: 16,043,933 (GRCm39) T229I probably damaging Het
Plagl2 G A 2: 153,074,611 (GRCm39) P97S probably benign Het
Plekhh2 C A 17: 84,874,294 (GRCm39) N526K probably benign Het
Plin4 A G 17: 56,410,261 (GRCm39) L1217P probably benign Het
Polr3e T C 7: 120,527,222 (GRCm39) S67P possibly damaging Het
Postn A G 3: 54,292,703 (GRCm39) K757E probably benign Het
Prpf39 T A 12: 65,089,587 (GRCm39) probably null Het
Ptprg C T 14: 12,166,832 (GRCm38) T745I probably damaging Het
Pxylp1 C G 9: 96,707,307 (GRCm39) A292P probably damaging Het
Rpl35 G T 2: 38,891,754 (GRCm39) D82E possibly damaging Het
Slc9a1 G A 4: 133,149,519 (GRCm39) V782I possibly damaging Het
Syn2 T A 6: 115,240,875 (GRCm39) M415K possibly damaging Het
Tmem117 A C 15: 94,909,324 (GRCm39) I246L probably benign Het
Tmem221 A T 8: 72,011,428 (GRCm39) V9E probably damaging Het
Trav13-5 A G 14: 54,033,399 (GRCm39) T103A probably damaging Het
Ubxn7 T A 16: 32,191,007 (GRCm39) probably null Het
Vmn2r101 G T 17: 19,810,112 (GRCm39) M299I possibly damaging Het
Vmn2r103 T A 17: 20,014,344 (GRCm39) S379T probably damaging Het
Vmn2r109 T C 17: 20,761,440 (GRCm39) N639S probably benign Het
Wdr26 T C 1: 181,030,771 (GRCm39) Het
Zfp109 T A 7: 23,928,308 (GRCm39) Y367F probably damaging Het
Zfp143 G A 7: 109,685,338 (GRCm39) C389Y probably damaging Het
Zfp553 G T 7: 126,836,064 (GRCm39) probably null Het
Other mutations in Cavin4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1127:Cavin4 UTSW 4 48,663,637 (GRCm39) missense probably damaging 1.00
R1298:Cavin4 UTSW 4 48,672,593 (GRCm39) missense probably benign 0.02
R5389:Cavin4 UTSW 4 48,663,907 (GRCm39) missense probably damaging 1.00
R5668:Cavin4 UTSW 4 48,672,499 (GRCm39) missense probably benign
R5827:Cavin4 UTSW 4 48,672,074 (GRCm39) missense probably damaging 1.00
R6145:Cavin4 UTSW 4 48,663,794 (GRCm39) missense probably damaging 1.00
R6180:Cavin4 UTSW 4 48,663,917 (GRCm39) missense possibly damaging 0.95
R6861:Cavin4 UTSW 4 48,672,214 (GRCm39) missense probably benign 0.25
R7038:Cavin4 UTSW 4 48,672,479 (GRCm39) missense probably benign 0.25
R7378:Cavin4 UTSW 4 48,663,631 (GRCm39) missense probably benign 0.24
R7718:Cavin4 UTSW 4 48,671,984 (GRCm39) missense probably benign 0.14
R8909:Cavin4 UTSW 4 48,672,421 (GRCm39) missense probably benign 0.25
R9548:Cavin4 UTSW 4 48,663,956 (GRCm39) missense probably benign 0.00
R9603:Cavin4 UTSW 4 48,671,999 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- CAACGGATCAGCTTCAAATGC -3'
(R):5'- TTACCTGGAAGATTACCACTCGG -3'

Sequencing Primer
(F):5'- GCTTCAAATGCTGGTAAAATCCAC -3'
(R):5'- CCTGGAAGATTACCACTCGGAATTTG -3'
Posted On 2018-04-02