Mutagenetix > Incidental Mutation

Incidental Mutation 'R6711:Ceacam2'

529131

Institutional Source

Beutler Lab

Gene Symbol

Ceacam2

Ensembl Gene

ENSMUSG00000054385

Gene Name

CEA cell adhesion molecule 2

Synonyms

Bgp2

MMRRC Submission

044829-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R6711 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25215467-25239282 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25238295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 43 (L43P)

Ref Sequence

ENSEMBL: ENSMUSP00000064255 (fasta)

Gene Model

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

AlphaFold

Q925P2

Predicted Effect

probably benign
Transcript: ENSMUST00000044547
AA Change: L43P

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

SMART Domains

Protein: ENSMUSP00000048118
Gene: ENSMUSG00000054385
AA Change: L43P

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
AA Change: L43P

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

SMART Domains

Protein: ENSMUSP00000068540
Gene: ENSMUSG00000054385
AA Change: L43P

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
AA Change: L43P

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

SMART Domains

Protein: ENSMUSP00000064255
Gene: ENSMUSG00000054385
AA Change: L43P

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

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c21	A	G	13: 4,627,374 (GRCm39)	D156G	probably damaging	Het
Ankrd35	C	T	3: 96,590,784 (GRCm39)	Q357*	probably null	Het
Ano2	G	A	6: 125,752,795 (GRCm39)	A191T	probably damaging	Het
Cacna2d1	C	T	5: 16,505,039 (GRCm39)	T331I	probably damaging	Het
Ccdc81	T	G	7: 89,537,006 (GRCm39)	E214A	probably damaging	Het
Cdh4	A	G	2: 179,532,724 (GRCm39)	T729A	probably damaging	Het
Ces2h	A	T	8: 105,744,715 (GRCm39)	R364S	probably benign	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Entrep1	T	C	19: 23,955,463 (GRCm39)	N385S	probably benign	Het
Epb42	T	A	2: 120,854,589 (GRCm39)		probably benign	Het
Fcgbp	G	A	7: 27,789,098 (GRCm39)	V555M	probably damaging	Het
Ganc	A	T	2: 120,281,320 (GRCm39)	H723L	possibly damaging	Het
Gfra2	A	G	14: 71,203,715 (GRCm39)	D31G	probably damaging	Het
Glrb	A	G	3: 80,752,281 (GRCm39)	I443T	probably benign	Het
Hcfc1	A	T	X: 72,993,671 (GRCm39)	C1165S	probably damaging	Homo
Hoxd10	A	G	2: 74,524,507 (GRCm39)	Y273C	probably damaging	Het
Iba57	T	C	11: 59,049,369 (GRCm39)	T267A	probably damaging	Het
Impg2	C	A	16: 56,085,449 (GRCm39)	P943H	probably damaging	Het
Kidins220	A	G	12: 25,048,750 (GRCm39)	T145A	probably damaging	Het
Lmntd1	T	C	6: 145,489,228 (GRCm39)	Y11C	probably benign	Het
Lyst	A	T	13: 13,809,820 (GRCm39)	T497S	possibly damaging	Het
Man1a	G	A	10: 53,809,588 (GRCm39)	H406Y	probably benign	Het
Mme	A	T	3: 63,249,339 (GRCm39)	K289N	possibly damaging	Het
Mrps21	G	A	3: 95,777,895 (GRCm39)		probably benign	Het
Mtor	A	G	4: 148,536,824 (GRCm39)	N33D	possibly damaging	Het
Ncoa1	C	A	12: 4,372,904 (GRCm39)	A166S	probably benign	Het
Ndrg2	A	T	14: 52,147,782 (GRCm39)	F112I	possibly damaging	Het
Neb	A	C	2: 52,113,076 (GRCm39)	F36C	probably benign	Het
Neb	A	G	2: 52,146,299 (GRCm39)	Y2893H	probably damaging	Het
Or8g22	A	G	9: 38,958,162 (GRCm39)	*229Q	probably null	Het
Pcdh15	A	T	10: 74,478,219 (GRCm39)	E231D	possibly damaging	Het
Pih1d2	T	A	9: 50,529,310 (GRCm39)	M1K	probably null	Het
Pla2g4e	T	C	2: 120,001,751 (GRCm39)	N633D	probably benign	Het
Rph3al	C	A	11: 75,799,810 (GRCm39)	G50*	probably null	Het
Rtcb	A	T	10: 85,774,963 (GRCm39)	N477K	possibly damaging	Het
Scn10a	A	G	9: 119,438,979 (GRCm39)	F1630S	probably damaging	Het
Srfbp1	T	C	18: 52,621,373 (GRCm39)	S145P	probably damaging	Het
St7	A	G	6: 17,848,069 (GRCm39)	E211G	possibly damaging	Het
Thbs2	T	C	17: 14,910,527 (GRCm39)	D24G	probably benign	Het
Tlr6	C	A	5: 65,111,835 (GRCm39)	M357I	probably damaging	Het
Tmem168	T	C	6: 13,603,120 (GRCm39)	Y82C	probably damaging	Het
Tnrc18	A	T	5: 142,773,545 (GRCm39)	L245Q	unknown	Het
Vmn1r8	T	C	6: 57,013,444 (GRCm39)	L165P	probably damaging	Het
Vps13b	A	G	15: 35,887,395 (GRCm39)	Y3268C	probably damaging	Het
Zdhhc7	A	G	8: 120,810,066 (GRCm39)	I218T	probably benign	Het
Zfp213	A	G	17: 23,778,485 (GRCm39)	F209S	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGACTCCCGTATCCTTCATGGTG -3'
(R):5'- AATGGAGGTGATCTGCTGGC -3'

Sequencing Primer
(F):5'- ACCCTTTGGATGAGCAGGGATC -3'
(R):5'- TGATCTGCTGGCCACCAC -3'

Posted On

2018-07-24