Mutagenetix > Incidental Mutation

Incidental Mutation 'R6133:Cmtm2a'

487238

Institutional Source

Beutler Lab

Gene Symbol

Cmtm2a

Ensembl Gene

ENSMUSG00000074127

Gene Name

CKLF-like MARVEL transmembrane domain containing 2A

Synonyms

Cklf, 1700063K20Rik, 1700001K04Rik, ARR19, 1700041N15Rik, Cklfsf2a

MMRRC Submission

044280-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105007674-105019813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105019362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 76 (I76V)

Ref Sequence

ENSEMBL: ENSMUSP00000148812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034344] [ENSMUST00000159039] [ENSMUST00000160596] [ENSMUST00000162616] [ENSMUST00000164175] [ENSMUST00000212487] [ENSMUST00000212492]

AlphaFold

Q9DAR1

Predicted Effect

probably benign
Transcript: ENSMUST00000034344
AA Change: I76V

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000034344
Gene: ENSMUSG00000074127
AA Change: I76V

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
transmembrane domain	72	94	N/A	INTRINSIC
transmembrane domain	107	126	N/A	INTRINSIC
transmembrane domain	136	158	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159039

SMART Domains

Protein: ENSMUSP00000124855
Gene: ENSMUSG00000110430

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
internal_repeat_1	33	70	7.45e-12	PROSPERO
internal_repeat_2	34	74	9.92e-7	PROSPERO
internal_repeat_1	66	103	7.45e-12	PROSPERO
internal_repeat_2	122	162	9.92e-7	PROSPERO
transmembrane domain	190	212	N/A	INTRINSIC
transmembrane domain	227	246	N/A	INTRINSIC
transmembrane domain	253	275	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160596

SMART Domains

Protein: ENSMUSP00000124656
Gene: ENSMUSG00000110430

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
internal_repeat_1	33	70	1.42e-11	PROSPERO
internal_repeat_2	34	74	1.79e-6	PROSPERO
internal_repeat_1	66	103	1.42e-11	PROSPERO
internal_repeat_2	122	162	1.79e-6	PROSPERO
transmembrane domain	262	284	N/A	INTRINSIC
transmembrane domain	289	311	N/A	INTRINSIC
transmembrane domain	315	334	N/A	INTRINSIC
transmembrane domain	341	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162616

SMART Domains

Protein: ENSMUSP00000124800
Gene: ENSMUSG00000031876

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
internal_repeat_1	33	70	1.42e-11	PROSPERO
internal_repeat_2	34	74	1.79e-6	PROSPERO
internal_repeat_1	66	103	1.42e-11	PROSPERO
internal_repeat_2	122	162	1.79e-6	PROSPERO
transmembrane domain	262	284	N/A	INTRINSIC
transmembrane domain	289	311	N/A	INTRINSIC
transmembrane domain	315	334	N/A	INTRINSIC
transmembrane domain	341	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164175

SMART Domains

Protein: ENSMUSP00000132828
Gene: ENSMUSG00000110430

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
internal_repeat_1	34	71	1.23e-5	PROSPERO
internal_repeat_1	100	137	1.23e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000212487
AA Change: I76V

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000212492
AA Change: I76V

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.1348

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	A	G	8: 89,052,067 (GRCm39)	T912A	possibly damaging	Het
Akap12	G	T	10: 4,305,178 (GRCm39)	G663C	probably benign	Het
Ankhd1	T	C	18: 36,758,179 (GRCm39)	S958P	possibly damaging	Het
Cpxm2	G	A	7: 131,730,182 (GRCm39)	P146S	probably damaging	Het
Cubn	A	G	2: 13,313,429 (GRCm39)	V3047A	probably benign	Het
Dgkd	T	A	1: 87,865,962 (GRCm39)	V198E	possibly damaging	Het
Dnah3	A	T	7: 119,685,469 (GRCm39)	M181K	probably benign	Het
Dnah7a	T	C	1: 53,458,814 (GRCm39)	T3775A	probably benign	Het
Dsg2	A	G	18: 20,723,146 (GRCm39)	I391V	probably benign	Het
Ebi3	T	A	17: 56,261,311 (GRCm39)	V69E	probably benign	Het
Fn1	T	C	1: 71,636,886 (GRCm39)	T1998A	probably damaging	Het
Frmpd1	T	A	4: 45,284,915 (GRCm39)	H1245Q	probably benign	Het
Gm7145	T	A	1: 117,913,618 (GRCm39)	C167S	probably damaging	Het
Hydin	C	T	8: 111,327,908 (GRCm39)	T4805I	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnma1	C	T	14: 24,053,936 (GRCm39)	M21I	probably damaging	Het
Lrfn5	A	G	12: 61,890,574 (GRCm39)	D621G	probably benign	Het
Lrrc15	C	T	16: 30,093,054 (GRCm39)	G95D	probably benign	Het
Mex3d	A	G	10: 80,222,620 (GRCm39)	L212P	probably damaging	Het
Mmel1	C	T	4: 154,979,475 (GRCm39)	H728Y	probably damaging	Het
Naip1	A	G	13: 100,581,151 (GRCm39)	V32A	probably benign	Het
Nsl1	T	C	1: 190,803,403 (GRCm39)	L158P	probably damaging	Het
Or51q1c	A	T	7: 103,652,532 (GRCm39)	T17S	possibly damaging	Het
Or6c202	G	A	10: 128,996,752 (GRCm39)	L34F	possibly damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pakap	C	T	4: 57,855,516 (GRCm39)	Q525*	probably null	Het
Pcdh15	A	T	10: 74,481,805 (GRCm39)		probably null	Het
Pramel15	T	C	4: 144,104,347 (GRCm39)	R53G	possibly damaging	Het
Ptpn1	T	C	2: 167,809,716 (GRCm39)	V108A	possibly damaging	Het
Rad9b	T	C	5: 122,477,831 (GRCm39)	N182D	possibly damaging	Het
Rp1l1	C	T	14: 64,267,545 (GRCm39)	P1044S	probably damaging	Het
Scn2a	G	A	2: 65,573,448 (GRCm39)	V1433I	probably benign	Het
Ssrp1	T	G	2: 84,875,683 (GRCm39)		probably benign	Het
Suco	T	A	1: 161,662,752 (GRCm39)	K560*	probably null	Het
Tbx3	T	C	5: 119,819,018 (GRCm39)	V531A	probably benign	Het
Tmem30c	T	C	16: 57,098,100 (GRCm39)	Y107C	probably damaging	Het
Topbp1	T	A	9: 103,188,963 (GRCm39)		probably null	Het
Trpm5	A	T	7: 142,642,688 (GRCm39)	D86E	probably damaging	Het
Urb2	C	T	8: 124,755,300 (GRCm39)	Q336*	probably null	Het
Vmn2r43	A	G	7: 8,247,970 (GRCm39)	F731S	probably damaging	Het
Xkr9	A	G	1: 13,754,359 (GRCm39)	T118A	probably benign	Het
Zcchc2	A	C	1: 105,947,609 (GRCm39)	K117N	probably damaging	Het
Zfp52	T	C	17: 21,780,733 (GRCm39)	Y194H	probably damaging	Het
Zfp763	C	T	17: 33,237,675 (GRCm39)	C490Y	possibly damaging	Het
Zmynd19	G	T	2: 24,848,131 (GRCm39)	R148L	possibly damaging	Het

Other mutations in Cmtm2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Cmtm2a	APN	8	105,019,562 (GRCm39)	missense	probably damaging	0.99
IGL00774:Cmtm2a	APN	8	105,019,562 (GRCm39)	missense	probably damaging	0.99
IGL01551:Cmtm2a	APN	8	105,019,286 (GRCm39)	missense	probably damaging	0.98
IGL03410:Cmtm2a	APN	8	105,010,501 (GRCm39)	missense	probably damaging	1.00
R2122:Cmtm2a	UTSW	8	105,019,655 (GRCm39)	missense	possibly damaging	0.55
R4092:Cmtm2a	UTSW	8	105,019,403 (GRCm39)	missense	probably benign	0.08
R5683:Cmtm2a	UTSW	8	105,019,676 (GRCm39)	splice site	probably null
R5735:Cmtm2a	UTSW	8	105,019,418 (GRCm39)	missense	probably damaging	1.00
R8125:Cmtm2a	UTSW	8	105,019,343 (GRCm39)	missense	probably damaging	1.00
R8195:Cmtm2a	UTSW	8	105,019,670 (GRCm39)	missense	probably benign
R8838:Cmtm2a	UTSW	8	105,008,036 (GRCm39)	missense	probably damaging	0.99
R9001:Cmtm2a	UTSW	8	105,019,376 (GRCm39)	missense	probably benign	0.15
R9219:Cmtm2a	UTSW	8	105,008,101 (GRCm39)	missense	probably damaging	0.99
R9615:Cmtm2a	UTSW	8	105,019,286 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTTACATGTTTGGGAGCATCTC -3'
(R):5'- GCCGTGTTCAAGCTTCTGTC -3'

Sequencing Primer
(F):5'- CCTGAGCACCGGTAGAGGAG -3'
(R):5'- CAAGCTTCTGTCTTTGGTATACTG -3'

Posted On

2017-10-10