Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02820:Ceacam2'

360982

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 #

IGL02820

Quality Score

Status

Chromosome

Chromosomal Location

25215467-25239282 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25219411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 283 (H283L)

Ref Sequence

ENSEMBL: ENSMUSP00000064255 (fasta)

Gene Model

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

AlphaFold

Q925P2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044547
AA Change: H463L

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048118
Gene: ENSMUSG00000054385
AA Change: H463L

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 damaging
Transcript: ENSMUST00000066503
AA Change: H283L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064255
Gene: ENSMUSG00000054385
AA Change: H283L

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	T	C	12: 24,124,417 (GRCm39)	Y86C	probably benign	Het
Adgra2	G	A	8: 27,607,535 (GRCm39)	V47M	probably damaging	Het
Anks1b	T	C	10: 89,912,921 (GRCm39)	C349R	possibly damaging	Het
Anks4b	A	T	7: 119,781,914 (GRCm39)		probably benign	Het
Apobec2	A	G	17: 48,730,295 (GRCm39)	S124P	probably damaging	Het
Brd8	G	A	18: 34,740,354 (GRCm39)	S493L	probably benign	Het
Cbln3	A	G	14: 56,120,944 (GRCm39)	Y126H	probably damaging	Het
Ccdc138	T	C	10: 58,364,721 (GRCm39)		probably benign	Het
Cckbr	C	T	7: 105,083,238 (GRCm39)	A147V	probably damaging	Het
Cfap251	A	G	5: 123,392,699 (GRCm39)		probably benign	Het
Clasp1	A	G	1: 118,478,834 (GRCm39)	D718G	possibly damaging	Het
Clmn	A	T	12: 104,739,493 (GRCm39)	Y979N	probably damaging	Het
Ddias	T	C	7: 92,508,551 (GRCm39)	T455A	probably benign	Het
Dennd5b	T	C	6: 148,920,840 (GRCm39)	R851G	probably null	Het
Dock1	T	C	7: 134,768,944 (GRCm39)	V1771A	probably benign	Het
Dysf	T	A	6: 84,077,187 (GRCm39)	L694Q	probably damaging	Het
Faim2	T	C	15: 99,419,138 (GRCm39)	Y77C	probably benign	Het
Fbxw22	A	T	9: 109,215,732 (GRCm39)	I172N	probably damaging	Het
Fhad1	C	T	4: 141,646,069 (GRCm39)	D298N	probably benign	Het
Fyb1	T	G	15: 6,688,040 (GRCm39)	V800G	possibly damaging	Het
Gcm1	T	C	9: 77,971,844 (GRCm39)	F262L	probably benign	Het
Gm21983	T	C	7: 26,879,605 (GRCm39)	M121V	probably benign	Het
Gm9996	A	T	10: 29,019,657 (GRCm39)		probably benign	Het
Gstm3	A	T	3: 107,876,074 (GRCm39)		probably benign	Het
Gsto2	G	T	19: 47,863,398 (GRCm39)	E91D	probably damaging	Het
Hs6st3	G	T	14: 119,376,492 (GRCm39)	M222I	possibly damaging	Het
Ighv3-6	T	C	12: 114,251,850 (GRCm39)	D90G	probably damaging	Het
Itgb1bp1	C	T	12: 21,326,854 (GRCm39)	A40T	possibly damaging	Het
Kcns3	C	T	12: 11,141,872 (GRCm39)	E276K	probably benign	Het
Lamc3	C	T	2: 31,813,034 (GRCm39)	R1007C	probably damaging	Het
Lnx2	A	T	5: 146,978,877 (GRCm39)	M125K	probably damaging	Het
Lyst	T	A	13: 13,812,643 (GRCm39)	N1018K	probably benign	Het
Mctp2	T	A	7: 71,895,290 (GRCm39)	S186C	probably damaging	Het
Or1j20	A	T	2: 36,759,871 (GRCm39)	T98S	probably benign	Het
Polg	T	C	7: 79,109,519 (GRCm39)	T433A	possibly damaging	Het
Rdh13	C	T	7: 4,438,059 (GRCm39)	V127M	probably damaging	Het
Rdh16	A	G	10: 127,649,470 (GRCm39)	T309A	probably benign	Het
Reep5	A	T	18: 34,506,312 (GRCm39)	D21E	probably benign	Het
Rptn	A	T	3: 93,304,227 (GRCm39)	N520I	probably benign	Het
Rttn	T	C	18: 89,047,122 (GRCm39)	L928P	probably damaging	Het
Slc44a2	A	G	9: 21,254,273 (GRCm39)	I212V	probably benign	Het
Snupn	A	G	9: 56,870,332 (GRCm39)	T71A	probably benign	Het
Ssu2	T	C	6: 112,359,353 (GRCm39)	N89S	probably benign	Het
Thsd7a	A	G	6: 12,321,071 (GRCm39)	S1535P	probably damaging	Het
Tmt1a	C	A	15: 100,202,933 (GRCm39)	S51*	probably null	Het
Uba7	A	T	9: 107,858,715 (GRCm39)	S849C	probably benign	Het
Vmn2r80	A	G	10: 79,007,439 (GRCm39)	T472A	probably benign	Het
Wdr6	A	G	9: 108,455,743 (GRCm39)	I17T	probably benign	Het
Xkr9	G	A	1: 13,771,173 (GRCm39)	V230I	probably benign	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
IGL02106:Ceacam2	APN	7	25,230,166 (GRCm39)	missense	probably benign
IGL02506:Ceacam2	APN	7	25,227,379 (GRCm39)	missense	probably benign	0.34
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

2015-12-18