Mutagenetix > Incidental Mutation

Incidental Mutation 'R9548:Cavin4'

720226

Institutional Source

Beutler Lab

Gene Symbol

Cavin4

Ensembl Gene

ENSMUSG00000028348

Gene Name

caveolae associated 4

Synonyms

cavin 4, Murc, 2310039E09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9548 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48663514-48673492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48663956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 112 (V112A)

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

Domain	Start	End	E-Value	Type
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: ENSMUST00000030033
AA Change: V112A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030033
Gene: ENSMUSG00000028348
AA Change: V112A

Domain	Start	End	E-Value	Type
Pfam:PTRF_SDPR	27	263	7.8e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123476

SMART Domains

Protein: ENSMUSP00000115841
Gene: ENSMUSG00000028347

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
EGF	56	93	1.33e-1	SMART
transmembrane domain	112	134	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankfy1	G	A	11: 72,641,005 (GRCm39)		probably null	Het
Arid1b	A	G	17: 5,385,262 (GRCm39)	Y1340C	probably damaging	Het
Bcl2	C	A	1: 106,640,508 (GRCm39)	A35S	probably benign	Het
Brf2	A	T	8: 27,614,623 (GRCm39)	S188T	probably benign	Het
Carmil1	C	A	13: 24,460,516 (GRCm39)	G21V	probably damaging	Het
Cd300lf	T	C	11: 115,007,858 (GRCm39)	E319G	probably benign	Het
Cd44	A	T	2: 102,661,832 (GRCm39)	D587E	possibly damaging	Het
Cfap53	A	T	18: 74,438,040 (GRCm39)	T239S	possibly damaging	Het
Cma2	A	C	14: 56,211,256 (GRCm39)	I239L	probably damaging	Het
Cnot1	A	T	8: 96,482,854 (GRCm39)	M733K	probably benign	Het
Cyp2f2	A	G	7: 26,829,170 (GRCm39)	D225G	probably benign	Het
Cyp4f40	G	A	17: 32,890,158 (GRCm39)	R276H	probably benign	Het
Cytip	A	T	2: 58,041,141 (GRCm39)	F88L	probably damaging	Het
Dnaaf2	T	C	12: 69,244,776 (GRCm39)	N95S	probably damaging	Het
Dnah5	C	A	15: 28,328,025 (GRCm39)	T2133K	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Elapor2	G	A	5: 9,490,859 (GRCm39)	G623D	probably damaging	Het
Epn2	A	T	11: 61,436,988 (GRCm39)	S195T	probably benign	Het
Exoc3	A	T	13: 74,330,285 (GRCm39)	Y521N	possibly damaging	Het
Fbxo10	C	A	4: 45,058,970 (GRCm39)	V256L	probably damaging	Het
Fis1	A	T	5: 136,991,907 (GRCm39)	T34S	probably benign	Het
Gm10309	A	T	17: 86,806,161 (GRCm39)	C118S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hook1	T	A	4: 95,891,808 (GRCm39)	V340E	probably damaging	Het
Ifng	C	A	10: 118,277,128 (GRCm39)	H23Q	probably benign	Het
Lect2	C	T	13: 56,694,660 (GRCm39)	E32K	probably benign	Het
Lrp1	T	G	10: 127,388,733 (GRCm39)	T3239P	probably damaging	Het
Lrrc14b	T	A	13: 74,511,996 (GRCm39)	Y28F	probably benign	Het
Maml3	A	T	3: 51,763,791 (GRCm39)	V391E	possibly damaging	Het
Map3k8	C	T	18: 4,349,141 (GRCm39)	R59H	probably benign	Het
Med1	G	T	11: 98,070,884 (GRCm39)	L120I	possibly damaging	Het
Muc5b	C	A	7: 141,421,648 (GRCm39)	H4349N	possibly damaging	Het
Myo1h	C	T	5: 114,499,154 (GRCm39)	P110S	probably benign	Het
Nol10	T	G	12: 17,466,144 (GRCm39)	I513S	possibly damaging	Het
Nphs1	C	T	7: 30,180,875 (GRCm39)	S1093F	probably benign	Het
Or12e10	A	T	2: 87,641,097 (GRCm39)	N311I	probably damaging	Het
Or4b1b	T	C	2: 90,111,991 (GRCm39)	*309W	probably null	Het
Or56b1b	A	T	7: 108,164,334 (GRCm39)	S223T	possibly damaging	Het
Or5p72	A	T	7: 108,022,416 (GRCm39)	T213S	possibly damaging	Het
Or5w8	A	T	2: 87,688,040 (GRCm39)	I174F	probably damaging	Het
Pcdh17	A	T	14: 84,685,402 (GRCm39)	Y623F	possibly damaging	Het
Pdzd8	T	A	19: 59,289,826 (GRCm39)	I525F	probably benign	Het
Peak1	G	T	9: 56,113,917 (GRCm39)	Q1675K	probably benign	Het
Perm1	T	C	4: 156,302,290 (GRCm39)	V278A	probably benign	Het
Ppp2r5d	G	A	17: 46,998,527 (GRCm39)	R115C	probably damaging	Het
Rnf169	A	T	7: 99,574,690 (GRCm39)	L635Q	probably damaging	Het
Sacs	A	G	14: 61,440,692 (GRCm39)	T913A	probably benign	Het
Sh3bp1	A	T	15: 78,788,673 (GRCm39)	I233F	possibly damaging	Het
Skint9	T	G	4: 112,276,346 (GRCm39)	L8F	probably benign	Het
Slc1a4	A	T	11: 20,258,041 (GRCm39)	N360K	probably damaging	Het
Slc22a16	T	A	10: 40,460,865 (GRCm39)	Y243*	probably null	Het
Slc22a19	C	A	19: 7,659,219 (GRCm39)		probably null	Het
Smarcal1	T	C	1: 72,671,999 (GRCm39)	I840T	possibly damaging	Het
Spata13	A	G	14: 60,991,303 (GRCm39)	K1019E	possibly damaging	Het
Steap1	A	G	5: 5,790,700 (GRCm39)	S83P	possibly damaging	Het
Synj2bp	T	C	12: 81,551,382 (GRCm39)	H78R	probably damaging	Het
Tcstv7a	T	A	13: 120,289,924 (GRCm39)	I91F	probably benign	Het
Tjp3	T	C	10: 81,113,833 (GRCm39)	E475G	probably damaging	Het
Top3a	A	G	11: 60,644,768 (GRCm39)	V312A	probably benign	Het
Traip	C	A	9: 107,833,099 (GRCm39)	T45N	probably damaging	Het
Ttn	T	C	2: 76,573,691 (GRCm39)	Y25734C	probably damaging	Het
Unc79	T	A	12: 102,977,495 (GRCm39)	V166D	probably damaging	Het
Urgcp	C	A	11: 5,667,622 (GRCm39)	V282F	possibly damaging	Het
Vmn1r184	G	A	7: 25,966,734 (GRCm39)	S160N	probably benign	Het
Wdfy3	T	C	5: 102,033,059 (GRCm39)	D2231G	probably damaging	Het
Zan	C	T	5: 137,401,323 (GRCm39)	G4132D	unknown	Het

Other mutations in Cavin4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9603:Cavin4	UTSW	4	48,671,999 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ATTGTGACCGTGCTGGACAG -3'
(R):5'- TGGCGAGCTCAGTATATTCCC -3'

Sequencing Primer
(F):5'- ACAGAGTGGCCAGTGTCGTG -3'
(R):5'- GGCGAGCTCAGTATATTCCCATATAC -3'

Posted On

2022-07-18