Incidental Mutation 'R5389:Cavin4'
ID 425459
Institutional Source Beutler Lab
Gene Symbol Cavin4
Ensembl Gene ENSMUSG00000028348
Gene Name caveolae associated 4
Synonyms cavin 4, Murc, 2310039E09Rik
MMRRC Submission 042961-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5389 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 48663514-48673492 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 48663907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 96 (V96F)
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 probably damaging
Transcript: ENSMUST00000030033
AA Change: V96F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030033
Gene: ENSMUSG00000028348
AA Change: V96F

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 0.3980 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (65/66)
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
4921524L21Rik T C 18: 6,638,795 (GRCm39) V398A probably benign Het
A430033K04Rik T A 5: 138,644,559 (GRCm39) V148E probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Ankrd26 T A 6: 118,485,536 (GRCm39) Q1446L possibly damaging Het
Anks6 A T 4: 47,038,900 (GRCm39) probably benign Het
Arrb2 T C 11: 70,329,484 (GRCm39) S265P probably damaging Het
Baiap2 T C 11: 119,887,496 (GRCm39) S264P probably damaging Het
Cadps2 A G 6: 23,329,103 (GRCm39) V938A probably damaging Het
Cenpe T C 3: 134,965,149 (GRCm39) probably null Het
Crocc2 C A 1: 93,143,363 (GRCm39) Q1322K probably benign Het
Cryzl2 T A 1: 157,289,546 (GRCm39) C61* probably null Het
Dazl T C 17: 50,595,718 (GRCm39) I56V probably benign Het
Dnah12 A T 14: 26,456,904 (GRCm39) D890V probably damaging Het
Dnah9 C A 11: 65,986,140 (GRCm39) E1165* probably null Het
Dnmt3l T A 10: 77,892,665 (GRCm39) probably null Het
Elp2 A G 18: 24,739,960 (GRCm39) N62S possibly damaging Het
Entr1 T C 2: 26,275,559 (GRCm39) D244G probably damaging Het
Fam216b T A 14: 78,322,503 (GRCm39) H26L possibly damaging Het
Fbxw25 T A 9: 109,481,954 (GRCm39) Q244L possibly damaging Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Gvin3 T C 7: 106,197,442 (GRCm39) noncoding transcript Het
Igf2r T C 17: 12,944,303 (GRCm39) Y400C probably damaging Het
Iqcc A G 4: 129,512,413 (GRCm39) F20L probably benign Het
Klhl5 T A 5: 65,298,625 (GRCm39) L135M possibly damaging Het
Klk1b16 A T 7: 43,790,412 (GRCm39) M196L possibly damaging Het
Ltf T C 9: 110,858,719 (GRCm39) M489T possibly damaging Het
Mctp2 G T 7: 71,863,835 (GRCm39) R343S possibly damaging Het
Nbas T A 12: 13,584,578 (GRCm39) probably null Het
Ncr1 A T 7: 4,343,932 (GRCm39) M177L probably benign Het
Net1 C T 13: 3,936,170 (GRCm39) E305K probably damaging Het
Nfx1 T C 4: 40,985,000 (GRCm39) F375L probably damaging Het
Notch3 T A 17: 32,358,163 (GRCm39) I1687L probably benign Het
Obsl1 A T 1: 75,479,905 (GRCm39) probably benign Het
Or2ag16 A T 7: 106,352,290 (GRCm39) F102I probably damaging Het
Or2t46 C G 11: 58,471,825 (GRCm39) L52V possibly damaging Het
Or51v14 G T 7: 103,260,797 (GRCm39) Y254* probably null Het
Or5g23 A G 2: 85,438,627 (GRCm39) F209S probably benign Het
Or5j3 G A 2: 86,128,561 (GRCm39) V134M possibly damaging Het
Or5p79 A C 7: 108,221,924 (GRCm39) I302L probably damaging Het
Orai1 A T 5: 123,167,564 (GRCm39) M246L probably benign Het
Pcdhga12 G A 18: 37,899,785 (GRCm39) A206T probably damaging Het
Plxdc2 C A 2: 16,654,998 (GRCm39) T199K probably damaging Het
Prkd1 T A 12: 50,389,920 (GRCm39) I819F probably damaging Het
Ptpn9 T C 9: 56,964,121 (GRCm39) probably benign Het
Rabl6 T C 2: 25,478,666 (GRCm39) E255G probably damaging Het
Sema3e T C 5: 14,286,099 (GRCm39) probably benign Het
Serpina3c T C 12: 104,115,699 (GRCm39) M282V possibly damaging Het
Slco1a7 A G 6: 141,686,193 (GRCm39) F216L probably benign Het
Slco2b1 A G 7: 99,335,132 (GRCm39) I216T probably damaging Het
Slco6b1 T C 1: 96,916,309 (GRCm39) noncoding transcript Het
Slco6d1 A T 1: 98,371,369 (GRCm39) I285F probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Sp9 C A 2: 73,104,641 (GRCm39) N398K probably damaging Het
Sycp2 A C 2: 178,019,495 (GRCm39) probably null Het
Tbc1d23 T C 16: 57,019,291 (GRCm39) D219G probably damaging Het
Tdpoz3 A G 3: 93,734,179 (GRCm39) R285G probably benign Het
Trim2 T A 3: 84,074,960 (GRCm39) Q694L probably null Het
Trim23 T A 13: 104,328,541 (GRCm39) V293D probably damaging Het
Ttn A G 2: 76,665,183 (GRCm39) probably benign Het
Vmn2r12 T A 5: 109,238,261 (GRCm39) Y493F probably benign Het
Vps41 T A 13: 19,046,708 (GRCm39) I753N probably damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Yme1l1 G A 2: 23,083,246 (GRCm39) G571R probably damaging Het
Zfp322a A T 13: 23,541,149 (GRCm39) C198S probably damaging 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
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
R6334:Cavin4 UTSW 4 48,663,824 (GRCm39) missense possibly damaging 0.77
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'- ATTGTGACCGTGCTGGACAG -3'
(R):5'- CTGACATGTGACATTGGACACCC -3'

Sequencing Primer
(F):5'- ACAGAGTGGCCAGTGTCGTG -3'
(R):5'- TGACATTGGACACCCCTGTGAC -3'
Posted On 2016-08-04