Mutagenetix > Incidental Mutation

Incidental Mutation 'R9001:Cmtm2a'

684969

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

068832-MU

Accession Numbers

Essential gene?

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

Stock #

R9001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105007674-105019813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105019376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 71 (V71A)

Ref Sequence

ENSEMBL: ENSMUSP00000034344 (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: V71A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034344
Gene: ENSMUSG00000074127
AA Change: V71A

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: V71A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212492
AA Change: V71A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,637,176 (GRCm39)	R26G	probably damaging	Het
Aldh1a2	A	G	9: 71,192,462 (GRCm39)	N439S	probably damaging	Het
Arfgef3	C	T	10: 18,522,476 (GRCm39)	E517K	probably benign	Het
Arhgap29	A	T	3: 121,775,523 (GRCm39)	I89L	probably benign	Het
Btbd3	G	A	2: 138,122,296 (GRCm39)	V149I	possibly damaging	Het
Chst5	T	A	8: 112,616,534 (GRCm39)	H362L	probably benign	Het
Col6a4	T	A	9: 105,944,370 (GRCm39)	I1035F	probably benign	Het
Csmd2	T	C	4: 128,308,079 (GRCm39)	V1279A		Het
Csmd3	A	T	15: 47,596,901 (GRCm39)	V1068E		Het
Ddx50	T	C	10: 62,475,728 (GRCm39)	Y331C	probably benign	Het
Dhx30	A	G	9: 109,916,623 (GRCm39)	Y631H	probably damaging	Het
Dnah10	G	A	5: 124,852,515 (GRCm39)	G1915S	probably damaging	Het
Dop1a	A	G	9: 86,436,374 (GRCm39)	*2463W	probably null	Het
Dst	G	T	1: 34,213,292 (GRCm39)	V1395F	possibly damaging	Het
Dzip1l	T	C	9: 99,523,907 (GRCm39)		probably null	Het
Eef1akmt3	T	C	10: 126,877,232 (GRCm39)	E11G	probably benign	Het
Elfn2	A	G	15: 78,557,438 (GRCm39)	F370L	probably benign	Het
Enam	T	A	5: 88,637,388 (GRCm39)	F104Y	probably benign	Het
Esd	A	G	14: 74,983,123 (GRCm39)	E258G	probably benign	Het
Fam181b	G	A	7: 92,730,356 (GRCm39)	A377T	unknown	Het
Gabrr3	A	G	16: 59,282,008 (GRCm39)	I454M	probably benign	Het
Ggt5	T	A	10: 75,445,992 (GRCm39)	V462D	probably benign	Het
Gm3250	T	C	10: 77,618,178 (GRCm39)	S67G	unknown	Het
Grn	A	T	11: 102,327,497 (GRCm39)	Y286F		Het
Gulp1	A	G	1: 44,827,709 (GRCm39)	I284V	probably benign	Het
Ilf2	A	G	3: 90,390,108 (GRCm39)	N140S	probably benign	Het
Ints4	C	A	7: 97,190,276 (GRCm39)	P925Q	possibly damaging	Het
Khdc1b	A	G	1: 21,454,560 (GRCm39)	N88D	possibly damaging	Het
Kif15	T	G	9: 122,826,855 (GRCm39)	C798G	probably benign	Het
Ktn1	T	A	14: 47,910,409 (GRCm39)	V285E	probably damaging	Het
Lrif1	A	G	3: 106,641,860 (GRCm39)	S59G	probably benign	Het
Mpdz	A	G	4: 81,299,999 (GRCm39)	M333T	probably benign	Het
Mrm3	A	G	11: 76,141,234 (GRCm39)	D414G	probably benign	Het
Msantd5f3	A	T	4: 73,575,280 (GRCm39)	R320*	probably null	Het
Mtpap	A	G	18: 4,380,831 (GRCm39)	N170D	probably benign	Het
Nelfb	C	A	2: 25,096,287 (GRCm39)	R274L	probably damaging	Het
Or56a3b	T	G	7: 104,771,447 (GRCm39)	V261G	probably damaging	Het
Pkm	A	G	9: 59,572,626 (GRCm39)	N44S	probably benign	Het
Rel	T	C	11: 23,698,855 (GRCm39)	D144G	probably damaging	Het
Scgb2b21	A	T	7: 33,218,956 (GRCm39)		probably benign	Het
Serpinb1b	T	A	13: 33,277,743 (GRCm39)	D325E	probably benign	Het
Slco4c1	A	G	1: 96,748,956 (GRCm39)	C654R	probably damaging	Het
Srgap2	T	C	1: 131,291,798 (GRCm39)	K143R	probably damaging	Het
Szt2	G	A	4: 118,235,529 (GRCm39)	H2034Y	unknown	Het
Thbs2	T	C	17: 14,889,007 (GRCm39)	D1164G	probably damaging	Het
Tnfrsf10b	T	C	14: 70,015,250 (GRCm39)	S243P	possibly damaging	Het
Tnxb	T	A	17: 34,922,410 (GRCm39)	S2408T	probably benign	Het
Topors	A	T	4: 40,261,696 (GRCm39)	D529E	possibly damaging	Het
Trmt5	T	C	12: 73,331,643 (GRCm39)	M138V	probably benign	Het
Vmn2r81	A	G	10: 79,104,104 (GRCm39)	I242M	possibly damaging	Het
Zfp523	A	G	17: 28,408,915 (GRCm39)	Q21R	possibly damaging	Het
Zfp646	T	A	7: 127,478,856 (GRCm39)	N344K	probably 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
R6133:Cmtm2a	UTSW	8	105,019,362 (GRCm39)	missense	probably benign	0.29
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
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'- AGTTACATGTTTGGGAGCATCTC -3'
(R):5'- ACGCCGTGTTCAAGCTTCTG -3'

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

Posted On

2021-10-11