Mutagenetix > Incidental Mutation

Incidental Mutation 'R8810:Carmil2'

672351

Institutional Source

Beutler Lab

Gene Symbol

Carmil2

Ensembl Gene

ENSMUSG00000050357

Gene Name

capping protein regulator and myosin 1 linker 2

Synonyms

Rltpr, D130029J02Rik

MMRRC Submission

068725-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R8810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106412906-106424819 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 106412947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000213019

Meta Mutation Damage Score

0.9498

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

99% (82/83)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,749,452 (GRCm39)	S1408P	probably damaging	Het
Acap3	T	C	4: 155,990,169 (GRCm39)	V783A	probably damaging	Het
Akap8	T	C	17: 32,525,504 (GRCm39)	N525S	probably damaging	Het
Aqp1	C	T	6: 55,313,606 (GRCm39)	T44M	probably damaging	Het
Arap1	T	C	7: 101,053,585 (GRCm39)	Y1305H	probably damaging	Het
Atg2a	T	G	19: 6,300,651 (GRCm39)	S743A	probably benign	Het
AW551984	G	T	9: 39,511,307 (GRCm39)	L133I	probably damaging	Het
Bahcc1	C	A	11: 120,164,587 (GRCm39)	P802T	possibly damaging	Het
Brd8	C	A	18: 34,743,002 (GRCm39)	V288L	probably benign	Het
Catspere2	G	A	1: 177,905,048 (GRCm39)	E153K	possibly damaging	Het
Ccdc162	C	T	10: 41,542,737 (GRCm39)	R379Q	probably benign	Het
Cd200l1	T	C	16: 45,264,199 (GRCm39)	T120A	probably benign	Het
Cdh16	A	G	8: 105,341,136 (GRCm39)	L116P	probably damaging	Het
Cenpj	A	T	14: 56,796,076 (GRCm39)	H260Q	possibly damaging	Het
Cenpq	A	G	17: 41,244,027 (GRCm39)	V17A	possibly damaging	Het
Cep350	T	C	1: 155,803,862 (GRCm39)	K1074E	probably damaging	Het
Chil4	C	A	3: 106,109,121 (GRCm39)	C394F	probably damaging	Het
Chst9	T	C	18: 15,850,983 (GRCm39)	I28V	probably benign	Het
Clasp2	C	A	9: 113,728,649 (GRCm39)	N873K	probably damaging	Het
Clec4b2	T	A	6: 123,158,269 (GRCm39)	M45K	probably benign	Het
Cmya5	T	A	13: 93,200,048 (GRCm39)	T3427S	possibly damaging	Het
Cnih4	A	G	1: 180,989,777 (GRCm39)	Y130C	probably damaging	Het
Cpne9	T	A	6: 113,281,506 (GRCm39)	M529K	probably damaging	Het
Crppa	A	T	12: 36,440,481 (GRCm39)	N130Y	probably damaging	Het
Ctsr	T	A	13: 61,309,639 (GRCm39)	Y190F	probably damaging	Het
Cyp2j13	G	A	4: 95,945,153 (GRCm39)	H351Y	probably benign	Het
Dixdc1	T	A	9: 50,613,265 (GRCm39)	Q230L	probably damaging	Het
Dpep1	A	T	8: 123,926,764 (GRCm39)	I226F	probably benign	Het
Efcab3	A	T	11: 104,805,721 (GRCm39)	N3076I	unknown	Het
Ehd2	A	G	7: 15,691,603 (GRCm39)	V243A	probably benign	Het
Etnk2	T	A	1: 133,306,232 (GRCm39)	Y353N	probably benign	Het
Fgg	G	T	3: 82,920,322 (GRCm39)	G367V	probably damaging	Het
Gm9772	T	C	17: 22,225,310 (GRCm39)	*61Q	probably null	Het
Grk5	T	G	19: 61,078,432 (GRCm39)	D496E	possibly damaging	Het
Hc	T	C	2: 34,909,535 (GRCm39)	N915S	probably benign	Het
Iah1	G	T	12: 21,367,388 (GRCm39)	Q31H	probably benign	Het
Insr	T	C	8: 3,219,714 (GRCm39)	D936G	probably benign	Het
Ints6	A	C	14: 62,939,902 (GRCm39)	V596G	probably benign	Het
Kcnj16	A	G	11: 110,915,677 (GRCm39)	D113G	possibly damaging	Het
Kdm4b	A	T	17: 56,706,771 (GRCm39)	I928F	probably damaging	Het
Lrrc41	C	T	4: 115,932,488 (GRCm39)		probably benign	Het
Lrrc8e	G	A	8: 4,285,070 (GRCm39)	V432I	probably benign	Het
Mamdc4	T	C	2: 25,458,501 (GRCm39)	E336G	probably benign	Het
Maml2	C	A	9: 13,532,918 (GRCm39)	Q711K		Het
Map3k14	T	C	11: 103,118,498 (GRCm39)	T563A	possibly damaging	Het
Mcu	T	A	10: 59,303,535 (GRCm39)	K101*	probably null	Het
Mettl22	T	A	16: 8,303,792 (GRCm39)	V286E	probably damaging	Het
Mon2	A	T	10: 122,845,516 (GRCm39)	N1396K	possibly damaging	Het
Mprip	T	C	11: 59,587,851 (GRCm39)		probably benign	Het
Mrpl51	C	T	6: 125,170,344 (GRCm39)	L117F	probably damaging	Het
Myo1d	C	A	11: 80,565,758 (GRCm39)	V356F	probably damaging	Het
Myo1d	T	A	11: 80,567,758 (GRCm39)	I241F	probably benign	Het
Naalad2	A	T	9: 18,297,230 (GRCm39)		probably benign	Het
Nacad	T	C	11: 6,552,853 (GRCm39)	T113A	probably benign	Het
Nrap	T	A	19: 56,352,843 (GRCm39)		probably benign	Het
Or10b1	G	A	10: 78,356,284 (GRCm39)	V281M	possibly damaging	Het
Or2z2	T	C	11: 58,345,936 (GRCm39)	T280A	possibly damaging	Het
Or56b2	T	A	7: 104,337,387 (GRCm39)	I55N	probably damaging	Het
Or5ae1	T	A	7: 84,565,626 (GRCm39)	I213N	possibly damaging	Het
Or5w1	T	C	2: 87,486,591 (GRCm39)	I225V	possibly damaging	Het
Or6z3	T	C	7: 6,463,763 (GRCm39)	L85P	probably damaging	Het
Osbpl3	T	C	6: 50,328,852 (GRCm39)	D117G	probably damaging	Het
Parp9	C	T	16: 35,773,981 (GRCm39)	R318*	probably null	Het
Pcdhb18	A	G	18: 37,623,374 (GRCm39)	I235V	probably benign	Het
Pex16	T	G	2: 92,209,366 (GRCm39)		probably benign	Het
Piezo2	T	A	18: 63,248,034 (GRCm39)	M489L	probably benign	Het
Pmepa1	C	A	2: 173,069,628 (GRCm39)	G271V	probably damaging	Het
Safb	A	G	17: 56,910,579 (GRCm39)	E659G	unknown	Het
Scn9a	T	C	2: 66,332,010 (GRCm39)	T1289A	probably damaging	Het
Secisbp2l	T	C	2: 125,617,596 (GRCm39)	D27G	possibly damaging	Het
Serpina1f	A	G	12: 103,660,240 (GRCm39)	V14A	probably benign	Het
Serpinb9b	C	A	13: 33,213,452 (GRCm39)	T3N	possibly damaging	Het
Sfxn5	C	T	6: 85,206,182 (GRCm39)	M315I	probably benign	Het
Slc9b2	A	G	3: 135,035,530 (GRCm39)	D333G	probably benign	Het
Sostdc1	A	G	12: 36,367,229 (GRCm39)	N135S	possibly damaging	Het
Spg11	T	G	2: 121,901,425 (GRCm39)	D1505A	probably damaging	Het
Spmip8	A	T	8: 96,047,883 (GRCm39)		probably benign	Het
Taar7a	T	C	10: 23,869,279 (GRCm39)	N34S	probably benign	Het
Tcerg1l	C	A	7: 137,811,526 (GRCm39)	R556L	possibly damaging	Het
Tcp11l1	T	C	2: 104,518,763 (GRCm39)	K311R	probably benign	Het
Trbv16	T	G	6: 41,128,972 (GRCm39)	F52C	probably damaging	Het
Ttn	T	A	2: 76,726,016 (GRCm39)	R6073S	unknown	Het
Uba1y	T	C	Y: 828,818 (GRCm39)	I542T	possibly damaging	Het
Vmn1r214	T	C	13: 23,219,082 (GRCm39)	I192T	probably benign	Het
Vmn2r67	C	T	7: 84,786,346 (GRCm39)	C553Y	probably damaging	Het
Zdhhc17	G	T	10: 110,784,121 (GRCm39)	H452N	possibly damaging	Het

Other mutations in Carmil2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Carmil2	APN	8	106,418,038 (GRCm39)	missense	probably benign	0.39
IGL01295:Carmil2	APN	8	106,422,148 (GRCm39)	missense	probably benign	0.44
IGL02055:Carmil2	APN	8	106,423,539 (GRCm39)	splice site	probably benign
IGL02532:Carmil2	APN	8	106,419,063 (GRCm39)	critical splice donor site	probably null
IGL02900:Carmil2	APN	8	106,422,151 (GRCm39)	missense	probably damaging	1.00
IGL03242:Carmil2	APN	8	106,417,952 (GRCm39)	splice site	probably benign
IGL03335:Carmil2	APN	8	106,423,661 (GRCm39)	missense	probably benign	0.14
Acubra	UTSW	8	106,415,130 (GRCm39)	nonsense	probably null
bowler	UTSW	8	106,417,437 (GRCm39)	missense	probably damaging	0.98
fedora	UTSW	8	106,417,398 (GRCm39)	missense	possibly damaging	0.88
fez	UTSW	8	106,419,677 (GRCm39)	missense	probably damaging	1.00
Panama	UTSW	8	106,412,947 (GRCm39)	critical splice donor site	probably null
R0544:Carmil2	UTSW	8	106,417,867 (GRCm39)	missense	probably damaging	1.00
R2160:Carmil2	UTSW	8	106,423,680 (GRCm39)	missense	possibly damaging	0.94
R2512:Carmil2	UTSW	8	106,424,025 (GRCm39)	missense	probably benign	0.31
R2877:Carmil2	UTSW	8	106,422,055 (GRCm39)	missense	probably damaging	1.00
R2943:Carmil2	UTSW	8	106,419,564 (GRCm39)	missense	probably benign	0.17
R4038:Carmil2	UTSW	8	106,422,039 (GRCm39)	missense	probably damaging	0.99
R4615:Carmil2	UTSW	8	106,421,706 (GRCm39)	missense	possibly damaging	0.94
R4914:Carmil2	UTSW	8	106,420,175 (GRCm39)	missense	possibly damaging	0.85
R5106:Carmil2	UTSW	8	106,420,638 (GRCm39)	splice site	probably null
R5125:Carmil2	UTSW	8	106,423,521 (GRCm39)	missense	probably damaging	1.00
R5178:Carmil2	UTSW	8	106,423,521 (GRCm39)	missense	probably damaging	1.00
R5735:Carmil2	UTSW	8	106,424,663 (GRCm39)	missense	probably damaging	1.00
R5991:Carmil2	UTSW	8	106,418,023 (GRCm39)	missense	probably null	1.00
R6035:Carmil2	UTSW	8	106,419,195 (GRCm39)	missense	probably benign	0.27
R6035:Carmil2	UTSW	8	106,419,195 (GRCm39)	missense	probably benign	0.27
R6226:Carmil2	UTSW	8	106,415,664 (GRCm39)	missense	possibly damaging	0.88
R6411:Carmil2	UTSW	8	106,423,658 (GRCm39)	missense	probably damaging	1.00
R7263:Carmil2	UTSW	8	106,419,677 (GRCm39)	missense	probably damaging	1.00
R7368:Carmil2	UTSW	8	106,417,467 (GRCm39)	missense	possibly damaging	0.46
R7409:Carmil2	UTSW	8	106,419,423 (GRCm39)	splice site	probably null
R7597:Carmil2	UTSW	8	106,422,121 (GRCm39)	missense	probably damaging	1.00
R7674:Carmil2	UTSW	8	106,423,918 (GRCm39)	missense	possibly damaging	0.93
R7759:Carmil2	UTSW	8	106,423,668 (GRCm39)	missense	possibly damaging	0.94
R7864:Carmil2	UTSW	8	106,414,906 (GRCm39)	missense	probably damaging	1.00
R7921:Carmil2	UTSW	8	106,417,736 (GRCm39)	missense	probably damaging	1.00
R8057:Carmil2	UTSW	8	106,419,008 (GRCm39)	missense	probably benign	0.04
R8079:Carmil2	UTSW	8	106,413,393 (GRCm39)	missense	probably damaging	1.00
R8343:Carmil2	UTSW	8	106,417,716 (GRCm39)	missense	probably benign	0.05
R8353:Carmil2	UTSW	8	106,416,843 (GRCm39)	missense	probably damaging	1.00
R8366:Carmil2	UTSW	8	106,419,707 (GRCm39)	missense	probably benign	0.02
R8453:Carmil2	UTSW	8	106,416,843 (GRCm39)	missense	probably damaging	1.00
R8526:Carmil2	UTSW	8	106,415,447 (GRCm39)	missense	probably damaging	1.00
R8925:Carmil2	UTSW	8	106,415,130 (GRCm39)	nonsense	probably null
R8927:Carmil2	UTSW	8	106,415,130 (GRCm39)	nonsense	probably null
R8944:Carmil2	UTSW	8	106,417,437 (GRCm39)	missense	probably damaging	0.98
R8952:Carmil2	UTSW	8	106,417,398 (GRCm39)	missense	possibly damaging	0.88
R9003:Carmil2	UTSW	8	106,423,905 (GRCm39)	missense	probably damaging	0.98
R9155:Carmil2	UTSW	8	106,412,922 (GRCm39)	missense	probably benign	0.12
R9318:Carmil2	UTSW	8	106,414,486 (GRCm39)	missense	probably benign	0.00
R9753:Carmil2	UTSW	8	106,417,539 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAAGATTCGACCATCCTCC -3'
(R):5'- AGTGCCCAGGTATTCATGTG -3'

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

Posted On

2021-04-30