Mutagenetix > Incidental Mutation

Incidental Mutation 'R9155:Carmil2'

695308

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

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R9155 (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 105686290 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 6 (D6G)

Ref Sequence

ENSEMBL: ENSMUSP00000148422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005841] [ENSMUST00000213019]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000005841

SMART Domains

Protein: ENSMUSP00000005841
Gene: ENSMUSG00000005698

Domain	Start	End	E-Value	Type
low complexity region	116	131	N/A	INTRINSIC
low complexity region	202	211	N/A	INTRINSIC
low complexity region	250	264	N/A	INTRINSIC
ZnF_C2H2	266	288	1.22e-4	SMART
ZnF_C2H2	294	316	7.26e-3	SMART
ZnF_C2H2	322	345	6.88e-4	SMART
ZnF_C2H2	351	373	5.14e-3	SMART
ZnF_C2H2	379	401	2.09e-3	SMART
ZnF_C2H2	407	430	2.02e-1	SMART
ZnF_C2H2	437	460	9.44e-2	SMART
ZnF_C2H2	467	489	7.67e-2	SMART
ZnF_C2H2	495	517	3.34e-2	SMART
ZnF_C2H2	523	546	2.53e-2	SMART
ZnF_C2H2	555	575	1.23e1	SMART
low complexity region	592	657	N/A	INTRINSIC
low complexity region	700	720	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213019
AA Change: D6G

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,543,945	E34G	probably damaging	Het
4932415D10Rik	A	T	10: 82,284,369	I4269N	probably damaging	Het
Aldh1a3	A	T	7: 66,409,119	L157*	probably null	Het
Asic2	T	A	11: 80,894,046	T356S	probably benign	Het
Ate1	T	C	7: 130,394,733	D459G	probably damaging	Het
Cacna1g	T	A	11: 94,459,597	Q474L		Het
Carf	C	A	1: 60,150,683	T689K	possibly damaging	Het
Ccnd2	A	C	6: 127,150,700	V25G	probably damaging	Het
Ccnk	T	A	12: 108,193,719	F153L	probably damaging	Het
Cdh23	C	T	10: 60,413,706	G808E	probably damaging	Het
Clec11a	C	T	7: 44,304,893	R212Q	probably damaging	Het
Cog4	T	C	8: 110,881,752	W749R	probably damaging	Het
Col6a3	T	A	1: 90,810,579	T1073S	probably benign	Het
Col6a4	T	A	9: 106,075,010	D563V	probably benign	Het
Coq5	A	G	5: 115,295,780		probably null	Het
Crebbp	A	C	16: 4,096,482	H1292Q	probably damaging	Het
Csmd3	C	A	15: 47,585,655	G2737W		Het
Ddrgk1	T	C	2: 130,658,307	Y223C	probably damaging	Het
Dennd1c	T	C	17: 57,066,796	Q589R	probably benign	Het
Dnah10	A	G	5: 124,830,411	D4336G	probably damaging	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
E330034G19Rik	A	T	14: 24,296,870	Q140L	possibly damaging	Het
Ergic3	A	G	2: 156,008,860	Y83C	probably damaging	Het
Fam171a2	A	T	11: 102,438,671	S421T	probably benign	Het
Fam26f	T	C	10: 34,126,367	E240G	probably damaging	Het
Fndc3a	T	A	14: 72,683,722	H4L	possibly damaging	Het
Gid8	T	A	2: 180,717,963	Y213*	probably null	Het
Gm9573	G	A	17: 35,621,239	P685L	unknown	Het
Hephl1	G	T	9: 15,089,079	H292Q	probably damaging	Het
Hexb	T	C	13: 97,177,906	Y443C	probably damaging	Het
Htr1f	C	T	16: 64,926,425	R168H	probably benign	Het
Hus1	A	G	11: 9,006,056	I159T	probably damaging	Het
Inha	A	G	1: 75,509,489	T143A	probably benign	Het
Itga8	A	G	2: 12,189,519	I690T	probably benign	Het
Itgae	G	T	11: 73,125,263	C766F	possibly damaging	Het
Kank4	T	C	4: 98,778,326	E628G	probably benign	Het
Kctd19	T	C	8: 105,393,939	H221R	probably benign	Het
Llgl1	A	G	11: 60,707,108	E351G	probably benign	Het
Lrba	A	G	3: 86,295,201	Y253C	probably damaging	Het
Lrp2	T	A	2: 69,461,369	R3489*	probably null	Het
Lrriq1	T	C	10: 103,214,779	N704S	probably benign	Het
Mbtps1	T	C	8: 119,508,954	N995S	probably benign	Het
Mga	T	C	2: 119,926,532	C1077R	probably damaging	Het
Ndufv1	A	T	19: 4,009,912	C142S	probably damaging	Het
Nkx3-1	T	C	14: 69,192,211	L226P	probably damaging	Het
Nsd1	C	T	13: 55,213,440	R74W	probably damaging	Het
Olfr136	A	T	17: 38,335,333	M59L	probably damaging	Het
Olfr1451	G	A	19: 12,999,064	C26Y	probably benign	Het
Olfr361	A	C	2: 37,085,004	M248R	probably benign	Het
Olfr412	A	G	11: 74,364,965	T99A	probably benign	Het
Olfr855	A	T	9: 19,585,083	D182V	probably benign	Het
Phc3	A	G	3: 30,914,542	V812A	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Ppp4c	A	T	7: 126,787,247	C193S	possibly damaging	Het
Rbbp5	C	A	1: 132,494,285	P308T	probably damaging	Het
Rhot1	A	G	11: 80,257,554	T607A	probably null	Het
Secisbp2l	G	A	2: 125,775,703	P18L	probably damaging	Het
Slc27a4	G	A	2: 29,811,282	G362S	probably damaging	Het
Slc4a8	T	C	15: 100,774,690	Y36H	probably damaging	Het
Sox17	T	C	1: 4,492,224	Y251C	probably damaging	Het
Taf4b	T	C	18: 14,813,239	V373A	probably benign	Het
Tecpr2	T	A	12: 110,914,750	V107E	probably damaging	Het
Them7	A	G	2: 105,378,779	Y148C	probably damaging	Het
Tktl2	T	A	8: 66,513,206	M472K	possibly damaging	Het
Ttn	C	T	2: 76,795,593	V15041I	probably damaging	Het
Ubr1	A	G	2: 120,924,134	V751A	possibly damaging	Het
Vmn1r213	A	T	13: 23,012,173	R309*	probably null	Het
Vmn2r10	A	T	5: 108,996,346	D579E	probably benign	Het
Vmn2r118	T	C	17: 55,610,207	Q435R	probably null	Het
Vmn2r50	A	T	7: 10,047,644	H391Q	probably damaging	Het
Zbtb44	A	T	9: 31,054,013	I240F	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
R7759:Carmil2	UTSW	8	105697036	missense	possibly damaging	0.94
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
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'- AGTCAAGATTCGACCATCCTC -3'
(R):5'- GCCCAGGTATTCATGTGTGG -3'

Sequencing Primer
(F):5'- TCAGCCAACGAAGCCGG -3'
(R):5'- CCCAGGTATTCATGTGTGGATCAG -3'

Posted On

2022-01-20