Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02106:Ceacam2'

279972

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ceacam2

Ensembl Gene

ENSMUSG00000054385

Gene Name

CEA cell adhesion molecule 2

Synonyms

Bgp2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL02106

Quality Score

Status

Chromosome

Chromosomal Location

25215467-25239282 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25230166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 147 (S147P)

Ref Sequence

ENSEMBL: ENSMUSP00000048118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044547] [ENSMUST00000064862] [ENSMUST00000066503]

AlphaFold

Q925P2

Predicted Effect

probably benign
Transcript: ENSMUST00000044547
AA Change: S147P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048118
Gene: ENSMUSG00000054385
AA Change: S147P

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
IG	40	143	4.15e0	SMART
IGc2	158	224	1.99e-7	SMART
IGc2	252	308	5.04e-9	SMART
IGc2	337	401	3.28e-8	SMART
transmembrane domain	422	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064862

SMART Domains

Protein: ENSMUSP00000068540
Gene: ENSMUSG00000054385

Domain	Start	End	E-Value	Type
low complexity region	18	27	N/A	INTRINSIC
IG_like	40	143	6.69e0	SMART
IGc2	157	221	3.28e-8	SMART
transmembrane domain	244	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066503

SMART Domains

Protein: ENSMUSP00000064255
Gene: ENSMUSG00000054385

Domain	Start	End	E-Value	Type
low complexity region	18	27	N/A	INTRINSIC
IG_like	40	143	6.69e0	SMART
IGc2	157	221	3.28e-8	SMART
transmembrane domain	242	264	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206300

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit female-specific obesity, disruption in glucose homeostasis, hyperphagia, hyperinsulinemia and decreased energy expenditure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9l	A	G	9: 44,420,496 (GRCm39)	N1264D	probably benign	Het
Bmyc	A	G	2: 25,597,082 (GRCm39)	K49E	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cep152	G	T	2: 125,444,856 (GRCm39)		probably null	Het
Cnbd1	G	T	4: 18,894,993 (GRCm39)	P250T	possibly damaging	Het
Col6a4	A	G	9: 105,940,304 (GRCm39)	C1209R	possibly damaging	Het
Coro1c	T	C	5: 113,990,334 (GRCm39)	T116A	probably benign	Het
Ddx46	A	G	13: 55,825,416 (GRCm39)		probably benign	Het
Dnaaf5	T	C	5: 139,137,268 (GRCm39)	I207T	probably damaging	Het
Erap1	A	G	13: 74,794,758 (GRCm39)	D139G	probably benign	Het
Fbxw22	A	T	9: 109,231,087 (GRCm39)	I121N	possibly damaging	Het
Fcmr	T	C	1: 130,802,872 (GRCm39)	S162P	probably benign	Het
Gadl1	A	G	9: 115,766,225 (GRCm39)		probably benign	Het
Gli2	T	A	1: 118,764,465 (GRCm39)	S1229C	probably benign	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Gne	T	C	4: 44,037,306 (GRCm39)	N692D	probably damaging	Het
Knl1	A	G	2: 118,902,489 (GRCm39)	T1397A	possibly damaging	Het
Lama3	C	A	18: 12,601,371 (GRCm39)	A1016E	probably damaging	Het
Lhfpl2	A	G	13: 94,328,419 (GRCm39)	D160G	probably benign	Het
Lmtk2	T	A	5: 144,112,769 (GRCm39)	V1163E	probably benign	Het
Lrrtm2	G	T	18: 35,345,868 (GRCm39)	S478*	probably null	Het
Nfatc2ip	T	C	7: 125,989,736 (GRCm39)		probably null	Het
Nlrp12	A	G	7: 3,282,574 (GRCm39)	I775T	probably benign	Het
Npr1	A	G	3: 90,372,165 (GRCm39)	F216L	probably benign	Het
Or4m1	A	T	14: 50,557,617 (GRCm39)	L225H	probably damaging	Het
Or5ac24	T	A	16: 59,165,387 (GRCm39)	N226Y	probably benign	Het
Or5b99	G	T	19: 12,976,929 (GRCm39)	S193I	possibly damaging	Het
Pkd1l1	C	A	11: 8,783,800 (GRCm39)	G2052C	probably damaging	Het
Ppp1r16b	A	G	2: 158,588,451 (GRCm39)	N112S	possibly damaging	Het
Prr11	A	G	11: 86,994,141 (GRCm39)		probably benign	Het
Scap	A	G	9: 110,210,724 (GRCm39)		probably benign	Het
Sirt1	C	T	10: 63,171,608 (GRCm39)	R191Q	probably damaging	Het
Slc38a6	A	C	12: 73,397,320 (GRCm39)	S321R	possibly damaging	Het
Sp140	T	C	1: 85,570,940 (GRCm39)	V460A	probably benign	Het
Spdye4c	A	T	2: 128,434,586 (GRCm39)	K54N	possibly damaging	Het
Spta1	T	A	1: 174,030,860 (GRCm39)	N947K	probably benign	Het
Srgap1	A	G	10: 121,621,598 (GRCm39)	V965A	possibly damaging	Het
Tmem209	A	C	6: 30,508,659 (GRCm39)		probably null	Het
Trim37	A	T	11: 87,092,230 (GRCm39)	K123*	probably null	Het
Trio	T	C	15: 27,744,244 (GRCm39)	T2563A	possibly damaging	Het
Utrn	A	T	10: 12,289,717 (GRCm39)	S734T	possibly damaging	Het
Vars2	A	G	17: 35,975,513 (GRCm39)		probably benign	Het
Xrn1	G	A	9: 95,859,858 (GRCm39)	E417K	probably benign	Het
Yeats2	T	A	16: 20,011,970 (GRCm39)	V515E	possibly damaging	Het

Other mutations in Ceacam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00788:Ceacam2	APN	7	25,237,998 (GRCm39)	critical splice donor site	probably null
IGL01606:Ceacam2	APN	7	25,230,132 (GRCm39)	missense	possibly damaging	0.95
IGL02506:Ceacam2	APN	7	25,227,379 (GRCm39)	missense	probably benign	0.34
IGL02820:Ceacam2	APN	7	25,219,411 (GRCm39)	missense	probably damaging	1.00
R0514:Ceacam2	UTSW	7	25,220,356 (GRCm39)	missense	probably benign	0.43
R2146:Ceacam2	UTSW	7	25,227,368 (GRCm39)	nonsense	probably null
R3854:Ceacam2	UTSW	7	25,238,227 (GRCm39)	missense	probably benign	0.06
R4887:Ceacam2	UTSW	7	25,220,257 (GRCm39)	missense	probably benign	0.00
R6480:Ceacam2	UTSW	7	25,219,414 (GRCm39)	missense	probably damaging	1.00
R6533:Ceacam2	UTSW	7	25,230,136 (GRCm39)	missense	probably benign	0.03
R6709:Ceacam2	UTSW	7	25,229,262 (GRCm39)	missense	possibly damaging	0.95
R6711:Ceacam2	UTSW	7	25,238,295 (GRCm39)	missense	probably benign
R6853:Ceacam2	UTSW	7	25,217,561 (GRCm39)	missense	possibly damaging	0.54
R7177:Ceacam2	UTSW	7	25,220,341 (GRCm39)	missense	probably benign	0.11
R7548:Ceacam2	UTSW	7	25,229,958 (GRCm39)	missense	probably benign	0.00
R7567:Ceacam2	UTSW	7	25,227,333 (GRCm39)	missense	probably benign	0.12
R7709:Ceacam2	UTSW	7	25,238,076 (GRCm39)	missense	probably damaging	0.97
R8378:Ceacam2	UTSW	7	25,217,597 (GRCm39)	missense	probably damaging	0.99
R8527:Ceacam2	UTSW	7	25,238,155 (GRCm39)	missense	probably benign	0.03
R8878:Ceacam2	UTSW	7	25,227,351 (GRCm39)	missense	probably benign	0.06
R9186:Ceacam2	UTSW	7	25,227,213 (GRCm39)	missense	probably damaging	1.00
R9321:Ceacam2	UTSW	7	25,230,089 (GRCm39)	missense	possibly damaging	0.84

Posted On

2015-04-16