Mutagenetix > Incidental Mutation

Incidental Mutation 'R7759:Carmil2'

597732

Institutional Source

Beutler Lab

Gene Symbol

Carmil2

Ensembl Gene

ENSMUSG00000050357

Gene Name

capping protein regulator and myosin 1 linker 2

Synonyms

D130029J02Rik, Rltpr

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R7759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105686274-105698187 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105697036 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1214 (D1214G)

Ref Sequence

ENSEMBL: ENSMUSP00000148422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042608] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211870] [ENSMUST00000211888] [ENSMUST00000212352] [ENSMUST00000212430] [ENSMUST00000212642] [ENSMUST00000212650] [ENSMUST00000213019]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042608

SMART Domains

Protein: ENSMUSP00000048180
Gene: ENSMUSG00000038000

Domain	Start	End	E-Value	Type
Pfam:TPP1	11	118	2.4e-23	PFAM
low complexity region	259	272	N/A	INTRINSIC
low complexity region	296	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093195

SMART Domains

Protein: ENSMUSP00000090886
Gene: ENSMUSG00000005699

Domain	Start	End	E-Value	Type
PB1	15	95	2.81e-15	SMART
PDZ	167	250	1.38e-12	SMART
low complexity region	263	286	N/A	INTRINSIC
low complexity region	309	323	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098444

SMART Domains

Protein: ENSMUSP00000096043
Gene: ENSMUSG00000005699

Domain	Start	End	E-Value	Type
PB1	4	79	1.28e-9	SMART
PDZ	151	234	1.38e-12	SMART
low complexity region	247	270	N/A	INTRINSIC
low complexity region	293	307	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211870

Predicted Effect

probably benign
Transcript: ENSMUST00000211888

Predicted Effect

probably benign
Transcript: ENSMUST00000212352

Predicted Effect

probably benign
Transcript: ENSMUST00000212430

Predicted Effect

probably benign
Transcript: ENSMUST00000212642

Predicted Effect

probably benign
Transcript: ENSMUST00000212650

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213019
AA Change: D1214G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out or ENU-induced allele exhibit decreased regulatory T cells and reduced proliferative and IL2-secretion response to anti-CD3 and anti-CD28 antibodies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	T	16: 4,864,650	G215V	probably benign	Het
Adamts1	C	A	16: 85,797,795	G652C	probably damaging	Het
Adck1	G	A	12: 88,402,117	A122T	possibly damaging	Het
Akap1	A	C	11: 88,845,833	M34R	probably damaging	Het
Apc2	C	T	10: 80,311,196	R695C	probably damaging	Het
Apon	T	A	10: 128,254,515	W21R	probably benign	Het
Arhgef16	T	C	4: 154,286,975	T254A	probably benign	Het
Arid5b	T	A	10: 68,097,802	S757C	probably damaging	Het
B020004C17Rik	A	C	14: 57,016,785	I122L	possibly damaging	Het
Bckdhb	T	G	9: 84,010,326	V270G	probably damaging	Het
Cacna1d	A	G	14: 30,099,188	Y1146H	probably benign	Het
Ccdc142	T	C	6: 83,107,931	V636A	probably benign	Het
Chd9	T	C	8: 90,977,550		probably null	Het
Csmd3	A	G	15: 47,698,173	S1336P		Het
Cubn	A	G	2: 13,348,150	Y1926H	probably damaging	Het
Ddx58	C	A	4: 40,225,104	A298S	probably damaging	Het
Dock4	A	T	12: 40,817,736	D1437V	probably damaging	Het
Eme1	A	T	11: 94,645,840	Y504*	probably null	Het
Enah	G	A	1: 181,918,444	A687V	unknown	Het
Endou	A	C	15: 97,713,866	V339G	probably damaging	Het
Ephb6	G	A	6: 41,614,605	R232H	probably benign	Het
Ephx2	G	A	14: 66,089,519	A409V	possibly damaging	Het
Esd	T	A	14: 74,745,567	C219*	probably null	Het
Fscb	A	T	12: 64,474,092	M200K	probably benign	Het
Gabra6	A	T	11: 42,317,681	V108D	probably damaging	Het
Gm11555	A	G	11: 99,649,742	V137A	unknown	Het
Gpld1	A	G	13: 24,962,400	D209G	probably damaging	Het
Ikzf1	T	A	11: 11,769,256	I408N	probably damaging	Het
Itgb4	A	G	11: 116,003,710	R1364G	possibly damaging	Het
Kif26b	A	C	1: 178,678,944	K195T	probably damaging	Het
Mfsd12	T	C	10: 81,363,593	W440R	probably benign	Het
Mtrr	C	T	13: 68,570,027	E373K	probably damaging	Het
Mug2	T	A	6: 122,081,358	V1293E	probably damaging	Het
Myof	C	A	19: 37,939,898	A1068S	probably benign	Het
Ncam2	A	G	16: 81,615,784	D720G	probably damaging	Het
Nova2	G	T	7: 18,958,251	G435V		Het
Oacyl	T	A	18: 65,710,560	D109E	probably damaging	Het
Olfr1393	A	T	11: 49,280,636	M163L	probably benign	Het
Olfr684	G	A	7: 105,157,025	S219F	probably damaging	Het
Pdcd11	G	A	19: 47,113,198	V941M	possibly damaging	Het
Pdzd8	C	A	19: 59,299,926	R1014L	probably damaging	Het
Ppm1h	T	G	10: 122,904,113	D364E	probably benign	Het
Rp1	T	C	1: 4,344,884	N2002D	probably benign	Het
Sall1	C	T	8: 89,042,351		probably null	Het
Scn10a	C	T	9: 119,648,132	W728*	probably null	Het
Setdb2	G	T	14: 59,419,364	T168K	probably damaging	Het
Sgms1	T	C	19: 32,159,876	I97V	probably benign	Het
Slc8a3	A	T	12: 81,314,551	M498K	probably benign	Het
Smpd4	A	T	16: 17,638,633	E362D	probably damaging	Het
Ssc5d	A	T	7: 4,937,530	K881*	probably null	Het
Strn4	A	G	7: 16,830,384	E313G	probably damaging	Het
Tas2r113	A	T	6: 132,893,927	N306I	possibly damaging	Het
Tdrd6	G	T	17: 43,624,839	R1773S	probably benign	Het
Thbs2	T	C	17: 14,677,059	E729G	probably damaging	Het
Tnfrsf23	G	A	7: 143,670,835	T135I	probably damaging	Het
Tollip	A	G	7: 141,884,539	M218T	probably benign	Het
Tyk2	A	T	9: 21,120,258		probably null	Het
Ubr2	G	A	17: 46,986,048	R269C	probably damaging	Het
Uggt1	A	T	1: 36,146,725	M1459K	possibly damaging	Het
Upf1	A	G	8: 70,334,080	V929A	probably benign	Het
Usp48	T	C	4: 137,594,452	S24P	probably benign	Het
Vmn1r214	G	A	13: 23,034,461	E42K	not run	Het
Vmn1r83	G	T	7: 12,321,433	D232E	probably benign	Het
Vmn2r25	C	T	6: 123,823,380	V668I	probably damaging	Het
Vmn2r6	A	G	3: 64,556,570	I281T	probably damaging	Het
Ywhag	A	T	5: 135,911,189	Y184N	probably damaging	Het
Zdbf2	A	C	1: 63,308,376	E1971D	possibly damaging	Het
Zfp568	G	A	7: 30,023,414	A595T	possibly damaging	Het
Zfy2	T	C	Y: 2,117,083	D248G	probably benign	Het

Other mutations in Carmil2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Carmil2	APN	8	105691406	missense	probably benign	0.39
IGL01295:Carmil2	APN	8	105695516	missense	probably benign	0.44
IGL02055:Carmil2	APN	8	105696907	splice site	probably benign
IGL02532:Carmil2	APN	8	105692431	critical splice donor site	probably null
IGL02900:Carmil2	APN	8	105695519	missense	probably damaging	1.00
IGL03242:Carmil2	APN	8	105691320	splice site	probably benign
IGL03335:Carmil2	APN	8	105697029	missense	probably benign	0.14
Acubra	UTSW	8	105688498	nonsense	probably null
bowler	UTSW	8	105690805	missense	probably damaging	0.98
fedora	UTSW	8	105690766	missense	possibly damaging	0.88
fez	UTSW	8	105693045	missense	probably damaging	1.00
panama	UTSW	8	105686315	critical splice donor site	probably null
R0544:Carmil2	UTSW	8	105691235	missense	probably damaging	1.00
R2160:Carmil2	UTSW	8	105697048	missense	possibly damaging	0.94
R2512:Carmil2	UTSW	8	105697393	missense	probably benign	0.31
R2877:Carmil2	UTSW	8	105695423	missense	probably damaging	1.00
R2943:Carmil2	UTSW	8	105692932	missense	probably benign	0.17
R4038:Carmil2	UTSW	8	105695407	missense	probably damaging	0.99
R4615:Carmil2	UTSW	8	105695074	missense	possibly damaging	0.94
R4914:Carmil2	UTSW	8	105693543	missense	possibly damaging	0.85
R5106:Carmil2	UTSW	8	105694006	splice site	probably null
R5125:Carmil2	UTSW	8	105696889	missense	probably damaging	1.00
R5178:Carmil2	UTSW	8	105696889	missense	probably damaging	1.00
R5735:Carmil2	UTSW	8	105698031	missense	probably damaging	1.00
R5991:Carmil2	UTSW	8	105691391	missense	probably null	1.00
R6035:Carmil2	UTSW	8	105692563	missense	probably benign	0.27
R6035:Carmil2	UTSW	8	105692563	missense	probably benign	0.27
R6226:Carmil2	UTSW	8	105689032	missense	possibly damaging	0.88
R6411:Carmil2	UTSW	8	105697026	missense	probably damaging	1.00
R7263:Carmil2	UTSW	8	105693045	missense	probably damaging	1.00
R7368:Carmil2	UTSW	8	105690835	missense	possibly damaging	0.46
R7409:Carmil2	UTSW	8	105692791	splice site	probably null
R7597:Carmil2	UTSW	8	105695489	missense	probably damaging	1.00
R7674:Carmil2	UTSW	8	105697286	missense	possibly damaging	0.93
R7864:Carmil2	UTSW	8	105688274	missense	probably damaging	1.00
R7921:Carmil2	UTSW	8	105691104	missense	probably damaging	1.00
R8057:Carmil2	UTSW	8	105692376	missense	probably benign	0.04
R8079:Carmil2	UTSW	8	105686761	missense	probably damaging	1.00
R8343:Carmil2	UTSW	8	105691084	missense	probably benign	0.05
R8353:Carmil2	UTSW	8	105690211	missense	probably damaging	1.00
R8366:Carmil2	UTSW	8	105693075	missense	probably benign	0.02
R8453:Carmil2	UTSW	8	105690211	missense	probably damaging	1.00
R8526:Carmil2	UTSW	8	105688815	missense	probably damaging	1.00
R8810:Carmil2	UTSW	8	105686315	critical splice donor site	probably null
R8925:Carmil2	UTSW	8	105688498	nonsense	probably null
R8927:Carmil2	UTSW	8	105688498	nonsense	probably null
R8944:Carmil2	UTSW	8	105690805	missense	probably damaging	0.98
R8952:Carmil2	UTSW	8	105690766	missense	possibly damaging	0.88
R9003:Carmil2	UTSW	8	105697273	missense	probably damaging	0.98
R9155:Carmil2	UTSW	8	105686290	missense	probably benign	0.12
R9318:Carmil2	UTSW	8	105687854	missense	probably benign	0.00
R9753:Carmil2	UTSW	8	105690907	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTACAGAGTAAAGACGGCG -3'
(R):5'- CAATGTCTTCCAGGTGGCAG -3'

Sequencing Primer
(F):5'- CCTACAGAGTAAAGACGGCGAGATC -3'
(R):5'- TCTTCCAGGTGGCAGACTCAG -3'

Posted On

2019-11-26