Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01606:Ceacam2'

93413

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 #

IGL01606

Quality Score

Status

Chromosome

Chromosomal Location

25215467-25239282 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25230132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 158 (E158G)

Ref Sequence

ENSEMBL: ENSMUSP00000048118 (fasta)

Gene Model

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

AlphaFold

Q925P2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044547
AA Change: E158G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048118
Gene: ENSMUSG00000054385
AA Change: E158G

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	G	17: 15,164,125 (GRCm39)	D84G	probably damaging	Het
Adat3	A	T	10: 80,443,172 (GRCm39)	I337F	probably damaging	Het
Carmil3	T	A	14: 55,731,306 (GRCm39)	N128K	possibly damaging	Het
Cel	T	C	2: 28,450,576 (GRCm39)	I150V	probably benign	Het
Chd5	A	G	4: 152,445,432 (GRCm39)	H441R	probably damaging	Het
Clic5	G	T	17: 44,559,633 (GRCm39)	R109L	probably benign	Het
Cpd	T	C	11: 76,703,466 (GRCm39)	M466V	probably benign	Het
Cyp39a1	T	A	17: 44,057,509 (GRCm39)		probably benign	Het
Dnah11	C	A	12: 117,946,767 (GRCm39)	A3106S	probably benign	Het
Fasn	A	C	11: 120,699,849 (GRCm39)		probably null	Het
Fat1	G	A	8: 45,476,086 (GRCm39)	V1688I	probably benign	Het
Fibcd1	A	G	2: 31,723,865 (GRCm39)	I258T	probably benign	Het
Frem2	C	A	3: 53,561,012 (GRCm39)	R1165I	possibly damaging	Het
Gm5627	C	T	9: 102,626,685 (GRCm39)		noncoding transcript	Het
Gm5862	T	A	5: 26,224,514 (GRCm39)	T152S	probably benign	Het
Gnb3	T	A	6: 124,814,218 (GRCm39)	D154V	probably damaging	Het
Ighv1-14	T	C	12: 114,610,457 (GRCm39)		noncoding transcript	Het
Klrb1	C	A	6: 128,699,968 (GRCm39)	E14D	probably benign	Het
Osbpl1a	A	T	18: 12,889,271 (GRCm39)	D556E	possibly damaging	Het
Pkd1	T	C	17: 24,795,497 (GRCm39)	V2330A	probably damaging	Het
Pkdrej	T	C	15: 85,701,901 (GRCm39)	K1345R	possibly damaging	Het
Plxna4	A	G	6: 32,134,936 (GRCm39)	F1756L	probably damaging	Het
Psg28	A	C	7: 18,164,296 (GRCm39)	S139A	probably benign	Het
Ptpru	A	T	4: 131,535,792 (GRCm39)	I395N	possibly damaging	Het
Reps1	A	G	10: 17,983,435 (GRCm39)	E426G	probably damaging	Het
Rtp4	T	A	16: 23,432,004 (GRCm39)	S179T	probably benign	Het
Sh3pxd2a	C	A	19: 47,257,035 (GRCm39)	R561L	probably benign	Het
Slc29a2	T	A	19: 5,077,467 (GRCm39)	L215Q	possibly damaging	Het
Slc44a4	T	C	17: 35,147,994 (GRCm39)	F653L	probably damaging	Het
Sulf1	G	T	1: 12,906,428 (GRCm39)	R490L	possibly damaging	Het
Ttll4	T	C	1: 74,725,052 (GRCm39)	L602P	probably damaging	Het
Ttn	A	G	2: 76,607,134 (GRCm39)	V17963A	probably damaging	Het
Urb1	A	G	16: 90,557,347 (GRCm39)	S1760P	probably damaging	Het
Zmynd11	G	A	13: 9,747,724 (GRCm39)	R149W	probably 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
IGL02106:Ceacam2	APN	7	25,230,166 (GRCm39)	missense	probably benign
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

2013-12-09