Incidental Mutation 'R6145:Cavin4'
ID 488801
Institutional Source Beutler Lab
Gene Symbol Cavin4
Ensembl Gene ENSMUSG00000028348
Gene Name caveolae associated 4
Synonyms 2310039E09Rik, cavin 4, Murc
MMRRC Submission 044292-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6145 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 48663514-48673502 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48663794 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 58 (H58L)
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: H58L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030033
Gene: ENSMUSG00000028348
AA Change: H58L

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 98.0%
  • 20x: 95.0%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik T A 1: 86,052,942 probably null Het
4930402H24Rik T C 2: 130,778,473 I247V probably benign Het
Abca8b A G 11: 109,973,808 V316A probably benign Het
Acad10 A T 5: 121,622,033 V999D probably damaging Het
Acot8 A G 2: 164,803,065 V66A probably benign Het
Ankrd11 T C 8: 122,892,661 H1484R probably damaging Het
Anxa6 A G 11: 54,994,904 F405S probably damaging Het
Asmt G A X: 170,674,663 V101I probably damaging Het
Atp1a2 C T 1: 172,287,238 V327I probably damaging Het
Brdt A G 5: 107,377,999 E906G possibly damaging Het
Cacna1g A T 11: 94,462,261 C313S probably damaging Het
Camk2d T C 3: 126,805,858 I329T probably benign Het
Ccdc78 C A 17: 25,789,065 P317T probably benign Het
Cdc16 T G 8: 13,767,573 Y295D possibly damaging Het
Cdyl2 T A 8: 116,594,978 N270I probably damaging Het
Cfap221 T A 1: 119,984,816 I114F possibly damaging Het
Dmxl1 A G 18: 49,912,766 E2414G possibly damaging Het
Dnah1 C A 14: 31,300,970 R1070L probably benign Het
Dnah14 T C 1: 181,666,417 S1713P probably benign Het
Dock10 C A 1: 80,575,904 G602* probably null Het
Ep400 A T 5: 110,756,703 V10D possibly damaging Het
Epas1 T C 17: 86,829,429 C807R probably benign Het
Esrrb C T 12: 86,505,899 P200L probably benign Het
Fbxw26 T C 9: 109,732,623 I168V probably benign Het
Fsip2 A T 2: 82,993,768 H6615L possibly damaging Het
Galk2 A T 2: 125,946,842 Q272L possibly damaging Het
Gas7 A C 11: 67,629,612 T43P probably damaging Het
Gm5134 A T 10: 75,995,839 I371F probably damaging Het
Gpr31b C T 17: 13,051,379 R301Q possibly damaging Het
Grk1 T A 8: 13,405,765 Y216* probably null Het
Grm5 T A 7: 88,026,601 M441K probably damaging Het
Heatr6 A G 11: 83,766,136 E408G probably damaging Het
Hoxc9 G T 15: 102,983,959 K201N probably damaging Het
Igsf10 T A 3: 59,331,656 Y368F possibly damaging Het
Il2ra A T 2: 11,680,246 D131V probably damaging Het
Imp4 A G 1: 34,440,096 E19G probably benign Het
Kcnk18 T C 19: 59,235,607 *395Q probably null Het
Kdm6b A T 11: 69,405,026 L805Q unknown Het
Lgr4 T A 2: 110,007,243 L427* probably null Het
Myt1l G A 12: 29,832,381 S525N unknown Het
Nasp G A 4: 116,611,077 T237I probably benign Het
Nell2 G T 15: 95,473,561 Q98K probably damaging Het
Nfasc C T 1: 132,634,717 G107R probably damaging Het
Nsun4 A G 4: 116,040,206 S203P probably damaging Het
Olfr24 T G 9: 18,755,569 D22A probably benign Het
Olfr855 T C 9: 19,584,888 V117A probably benign Het
Otogl G A 10: 107,777,117 silent Het
Pde10a T C 17: 8,929,117 V366A probably damaging Het
Pdxk T A 10: 78,443,791 D250V probably benign Het
Pih1d1 T A 7: 45,159,044 I179N probably damaging Het
Plaa T A 4: 94,583,992 I294F probably damaging Het
Pmel C A 10: 128,715,935 P213T probably damaging Het
Pom121l2 A T 13: 21,982,302 R248* probably null Het
Pou2f1 T C 1: 165,875,433 probably benign Het
Ppm1j G A 3: 104,781,379 R98H probably damaging Het
Prkdc C T 16: 15,772,073 P2600L probably damaging Het
Prom1 T C 5: 44,029,649 N422S probably benign Het
Pspn C T 17: 56,999,467 C154Y probably damaging Het
Ptdss1 T C 13: 66,972,637 probably null Het
Rapgef1 A G 2: 29,736,666 Y993C probably damaging Het
Scrn2 A C 11: 97,032,853 T219P probably benign Het
Sec23ip T G 7: 128,778,484 S874R probably damaging Het
Sept4 G A 11: 87,585,246 probably null Het
Slc15a3 C T 19: 10,857,251 L499F probably damaging Het
Spaca9 G A 2: 28,693,781 R64W probably damaging Het
Sra1 A G 18: 36,667,575 M193T probably damaging Het
Srsf4 G T 4: 131,900,294 probably benign Het
Syne1 T C 10: 5,052,750 D8055G probably damaging Het
Syne4 T A 7: 30,316,563 probably null Het
Tbc1d24 C A 17: 24,208,229 G253V probably damaging Het
Tbck T A 3: 132,732,215 I467N probably damaging Het
Tln1 T A 4: 43,538,030 M1857L possibly damaging Het
Ttll2 T C 17: 7,351,632 R299G probably benign Het
Ugt2b36 T G 5: 87,066,213 E524A probably benign Het
Vmn2r124 C T 17: 18,062,851 T269I probably benign Het
Vmn2r4 A G 3: 64,406,943 F206L probably benign Het
Zfp346 A G 13: 55,115,574 K156R probably damaging Het
Other mutations in Cavin4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1127:Cavin4 UTSW 4 48663637 missense probably damaging 1.00
R1298:Cavin4 UTSW 4 48672593 missense probably benign 0.02
R5389:Cavin4 UTSW 4 48663907 missense probably damaging 1.00
R5668:Cavin4 UTSW 4 48672499 missense probably benign
R5827:Cavin4 UTSW 4 48672074 missense probably damaging 1.00
R6180:Cavin4 UTSW 4 48663917 missense possibly damaging 0.95
R6334:Cavin4 UTSW 4 48663824 missense possibly damaging 0.77
R6861:Cavin4 UTSW 4 48672214 missense probably benign 0.25
R7038:Cavin4 UTSW 4 48672479 missense probably benign 0.25
R7378:Cavin4 UTSW 4 48663631 missense probably benign 0.24
R7718:Cavin4 UTSW 4 48671984 missense probably benign 0.14
R8909:Cavin4 UTSW 4 48672421 missense probably benign 0.25
R9548:Cavin4 UTSW 4 48663956 missense probably benign 0.00
R9603:Cavin4 UTSW 4 48671999 missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- GAACACAACGGATCAGCTTC -3'
(R):5'- ACCTGGAAGATTACCACTCGG -3'

Sequencing Primer
(F):5'- CGGATCAGCTTCAAATGCTG -3'
(R):5'- CCTGGAAGATTACCACTCGGAATTTG -3'
Posted On 2017-10-10