Mutagenetix > Incidental Mutation

Incidental Mutation 'R0464:Ceacam1'

71423

Institutional Source

Beutler Lab

Gene Symbol

Ceacam1

Ensembl Gene

ENSMUSG00000074272

Gene Name

CEA cell adhesion molecule 1

Synonyms

C-CAM, Hv-2, mmCGM1, Hv2, Cea7, mCEA1, MHVR1, CD66a, Cc1, Cea-1, mmCGM2, Cea-7, Bgp1, Mhv-1, Cea1, Bgp

MMRRC Submission

038664-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R0464 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25161132-25177028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25171442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 341 (S341P)

Ref Sequence

ENSEMBL: ENSMUSP00000096266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098666] [ENSMUST00000098668] [ENSMUST00000098669] [ENSMUST00000205308] [ENSMUST00000206171] [ENSMUST00000206687] [ENSMUST00000206676] [ENSMUST00000206583]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098666
AA Change: S341P

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096263
Gene: ENSMUSG00000074272
AA Change: S341P

Domain	Start	End	E-Value	Type
Pfam:V-set	18	140	1e-21	PFAM
IGc2	158	224	1.61e-7	SMART
IGc2	252	308	5.04e-9	SMART
IGc2	337	401	8.37e-15	SMART
transmembrane domain	426	448	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098668
AA Change: S161P

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000096265
Gene: ENSMUSG00000074272
AA Change: S161P

Domain	Start	End	E-Value	Type
Pfam:V-set	12	140	2.4e-21	PFAM
IGc2	157	221	8.37e-15	SMART
transmembrane domain	246	268	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098669
AA Change: S341P

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096266
Gene: ENSMUSG00000074272
AA Change: S341P

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:V-set	39	141	3.6e-13	PFAM
IGc2	158	224	1.61e-7	SMART
IGc2	252	308	5.04e-9	SMART
IGc2	337	401	8.37e-15	SMART
transmembrane domain	426	448	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205308
AA Change: S161P

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206171
AA Change: S341P

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206300

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206483

Predicted Effect

probably benign
Transcript: ENSMUST00000206687
AA Change: S161P

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000206676
AA Change: S341P

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206717

Predicted Effect

probably benign
Transcript: ENSMUST00000206583

Meta Mutation Damage Score

0.2465

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.7%

Validation Efficiency

100% (80/80)

MGI Phenotype

PHENOTYPE: Mice lacking appreciable levels of the two isoforms containing 4 Ig domains and having increased levels of the two isoforms containing 2 Ig domains are viable and fertile. They are significantly more resistant to mouse hepatitis virus than wild-type mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	G	T	2: 163,574,884 (GRCm39)	Y84*	probably null	Het
Adar	T	A	3: 89,642,889 (GRCm39)	C257S	possibly damaging	Het
Adgrd1	G	T	5: 129,239,714 (GRCm39)	C507F	probably damaging	Het
Atp5f1a	T	C	18: 77,867,622 (GRCm39)	Y299H	probably benign	Het
Bok	G	T	1: 93,621,935 (GRCm39)	R77L	probably damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Cfhr3	A	T	1: 139,521,683 (GRCm39)		noncoding transcript	Het
Ckap5	A	G	2: 91,409,858 (GRCm39)	I947V	probably benign	Het
Clec2i	T	C	6: 128,872,386 (GRCm39)	Y173H	probably damaging	Het
Cttnbp2	T	C	6: 18,408,690 (GRCm39)	D977G	possibly damaging	Het
Cyp2f2	C	A	7: 26,831,962 (GRCm39)	Q406K	probably benign	Het
Ddx28	A	G	8: 106,736,685 (GRCm39)	S458P	probably damaging	Het
Dppa3	T	A	6: 122,605,492 (GRCm39)		probably null	Het
Dusp10	C	A	1: 183,801,273 (GRCm39)	L347I	probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fbxl15	A	T	19: 46,316,951 (GRCm39)	E13D	probably benign	Het
Fhit	T	A	14: 10,991,567 (GRCm38)		probably benign	Het
Fras1	G	T	5: 96,784,662 (GRCm39)	V882F	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gabbr1	C	T	17: 37,361,726 (GRCm39)		probably benign	Het
Ganc	T	A	2: 120,267,175 (GRCm39)	V497D	probably benign	Het
Glt8d2	T	G	10: 82,490,564 (GRCm39)	H242P	possibly damaging	Het
Gna15	T	C	10: 81,348,338 (GRCm39)	Y131C	probably benign	Het
Gpatch8	T	C	11: 102,371,712 (GRCm39)	K609E	unknown	Het
Gprc5a	A	T	6: 135,056,413 (GRCm39)	K287*	probably null	Het
Iqub	T	A	6: 24,479,262 (GRCm39)	K427*	probably null	Het
Itpr2	C	G	6: 146,277,387 (GRCm39)	D666H	probably damaging	Het
Kcnj5	T	C	9: 32,234,269 (GRCm39)	I15M	possibly damaging	Het
Kcnn2	A	G	18: 45,693,426 (GRCm39)	E334G	probably damaging	Het
Lypd6	T	A	2: 50,080,690 (GRCm39)	I126N	probably damaging	Het
Ms4a20	A	G	19: 11,089,801 (GRCm39)	L28P	probably damaging	Het
Mtus1	T	C	8: 41,455,511 (GRCm39)	D56G	probably damaging	Het
Myo1h	A	G	5: 114,498,571 (GRCm39)	D889G	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Nab1	T	C	1: 52,529,174 (GRCm39)	D241G	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ncbp3	C	T	11: 72,960,647 (GRCm39)		probably benign	Het
Nek1	T	A	8: 61,525,307 (GRCm39)		probably benign	Het
Nf1	T	C	11: 79,447,615 (GRCm39)	V2452A	probably benign	Het
Nlrp1b	A	C	11: 71,109,070 (GRCm39)	S144A	probably damaging	Het
Npr2	A	T	4: 43,640,597 (GRCm39)		probably null	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	"TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC"	X: 142,526,889 (GRCm39)		probably benign	Het
Paox	T	A	7: 139,709,195 (GRCm39)		probably benign	Het
Pcdh15	T	A	10: 74,462,676 (GRCm39)		probably null	Het
Pde8b	G	A	13: 95,241,206 (GRCm39)	T202M	probably damaging	Het
Pigo	A	T	4: 43,019,814 (GRCm39)	V905D	probably benign	Het
Pik3cb	A	G	9: 98,926,796 (GRCm39)		probably null	Het
Rassf5	T	C	1: 131,139,998 (GRCm39)	N87S	probably benign	Het
Rbl1	C	A	2: 156,989,465 (GRCm39)	K1051N	probably damaging	Het
Rfx7	T	C	9: 72,525,486 (GRCm39)	V892A	probably damaging	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
Rnf144b	T	A	13: 47,396,363 (GRCm39)	Y233*	probably null	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sbf2	T	C	7: 110,063,783 (GRCm39)		probably benign	Het
Sgo2a	A	T	1: 58,039,253 (GRCm39)	K85N	probably damaging	Het
Siglec1	A	T	2: 130,921,279 (GRCm39)	C631S	probably damaging	Het
Simc1	C	T	13: 54,684,913 (GRCm39)	R50*	probably null	Het
Skint5	T	A	4: 113,392,928 (GRCm39)	M1235L	unknown	Het
Slc22a19	A	T	19: 7,660,278 (GRCm39)	N377K	probably benign	Het
Spata31d1a	A	G	13: 59,849,573 (GRCm39)	F852L	possibly damaging	Het
Spata31e3	A	G	13: 50,402,311 (GRCm39)		probably benign	Het
Srbd1	G	A	17: 86,427,430 (GRCm39)	S401F	probably damaging	Het
Stk36	C	A	1: 74,650,331 (GRCm39)	Q288K	probably damaging	Het
Styx	T	C	14: 45,609,908 (GRCm39)	S191P	probably benign	Het
Supt6	T	A	11: 78,107,164 (GRCm39)	N1214I	probably benign	Het
Tcim	T	A	8: 24,928,644 (GRCm39)	D90V	probably damaging	Het
Tdpoz1	T	A	3: 93,578,782 (GRCm39)	M1L	probably damaging	Het
Tep1	T	A	14: 51,085,141 (GRCm39)	T881S	probably benign	Het
Tlr5	C	T	1: 182,801,275 (GRCm39)	A193V	probably benign	Het
Tmem117	T	A	15: 94,612,800 (GRCm39)	F112Y	probably damaging	Het
Tnrc6c	C	T	11: 117,651,375 (GRCm39)	R1633W	probably damaging	Het
Trh	T	C	6: 92,220,649 (GRCm39)		probably null	Het
Triobp	A	G	15: 78,851,186 (GRCm39)	R447G	possibly damaging	Het
Trip6	A	G	5: 137,311,943 (GRCm39)	F46S	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Usp33	T	C	3: 152,081,872 (GRCm39)		probably benign	Het
Vmn2r60	A	T	7: 41,785,255 (GRCm39)	I156F	probably damaging	Het
Wdr17	T	C	8: 55,123,427 (GRCm39)		probably benign	Het
Wdr35	G	T	12: 9,077,472 (GRCm39)		probably benign	Het
Wwp1	C	T	4: 19,638,763 (GRCm39)		probably benign	Het
Zfp652	T	C	11: 95,654,475 (GRCm39)	C293R	probably damaging	Het

Other mutations in Ceacam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00701:Ceacam1	APN	7	25,171,339 (GRCm39)	missense	possibly damaging	0.86
IGL01766:Ceacam1	APN	7	25,171,420 (GRCm39)	missense	probably damaging	1.00
IGL02094:Ceacam1	APN	7	25,173,968 (GRCm39)	missense	probably damaging	1.00
IGL02869:Ceacam1	APN	7	25,175,966 (GRCm39)	missense	probably benign	0.07
IGL03325:Ceacam1	APN	7	25,175,912 (GRCm39)	missense	possibly damaging	0.83
PIT4445001:Ceacam1	UTSW	7	25,175,881 (GRCm39)	missense	probably damaging	1.00
PIT4810001:Ceacam1	UTSW	7	25,171,400 (GRCm39)	missense	probably damaging	1.00
R1270:Ceacam1	UTSW	7	25,165,739 (GRCm39)	splice site	probably null
R1771:Ceacam1	UTSW	7	25,171,469 (GRCm39)	missense	probably benign	0.17
R1819:Ceacam1	UTSW	7	25,163,285 (GRCm39)	missense	possibly damaging	0.68
R1964:Ceacam1	UTSW	7	25,174,133 (GRCm39)	missense	probably benign	0.13
R2048:Ceacam1	UTSW	7	25,176,113 (GRCm39)	missense	probably benign	0.09
R2760:Ceacam1	UTSW	7	25,176,899 (GRCm39)	missense	probably damaging	0.99
R2857:Ceacam1	UTSW	7	25,173,442 (GRCm39)	missense	probably damaging	0.96
R2859:Ceacam1	UTSW	7	25,173,442 (GRCm39)	missense	probably damaging	0.96
R3546:Ceacam1	UTSW	7	25,171,339 (GRCm39)	missense	probably benign	0.07
R4471:Ceacam1	UTSW	7	25,174,025 (GRCm39)	missense	possibly damaging	0.93
R4606:Ceacam1	UTSW	7	25,173,951 (GRCm39)	missense	probably damaging	0.97
R4810:Ceacam1	UTSW	7	25,173,945 (GRCm39)	makesense	probably null
R5291:Ceacam1	UTSW	7	25,171,256 (GRCm39)	missense	probably damaging	0.99
R5405:Ceacam1	UTSW	7	25,163,290 (GRCm39)	missense	probably benign	0.41
R5423:Ceacam1	UTSW	7	25,173,951 (GRCm39)	missense	probably benign	0.01
R5851:Ceacam1	UTSW	7	25,174,025 (GRCm39)	missense	possibly damaging	0.70
R5967:Ceacam1	UTSW	7	25,174,167 (GRCm39)	missense	probably damaging	0.97
R6216:Ceacam1	UTSW	7	25,171,421 (GRCm39)	missense	probably benign	0.19
R6235:Ceacam1	UTSW	7	25,171,217 (GRCm39)	splice site	probably null
R6323:Ceacam1	UTSW	7	25,174,076 (GRCm39)	missense	probably damaging	1.00
R6545:Ceacam1	UTSW	7	25,173,279 (GRCm39)	missense	probably damaging	1.00
R7371:Ceacam1	UTSW	7	25,174,145 (GRCm39)	missense	possibly damaging	0.95
R7760:Ceacam1	UTSW	7	25,171,450 (GRCm39)	missense	probably damaging	1.00
R7790:Ceacam1	UTSW	7	25,173,375 (GRCm39)	missense	probably damaging	1.00
R7869:Ceacam1	UTSW	7	25,175,954 (GRCm39)	missense	probably damaging	0.97
R7934:Ceacam1	UTSW	7	25,163,220 (GRCm39)	missense	possibly damaging	0.68
R8189:Ceacam1	UTSW	7	25,173,343 (GRCm39)	missense	probably damaging	0.96
R8907:Ceacam1	UTSW	7	25,171,444 (GRCm39)	missense	possibly damaging	0.88
R8967:Ceacam1	UTSW	7	25,163,297 (GRCm39)	missense	possibly damaging	0.48
R9055:Ceacam1	UTSW	7	25,171,299 (GRCm39)	missense	probably damaging	1.00
R9149:Ceacam1	UTSW	7	25,173,360 (GRCm39)	missense	possibly damaging	0.94
R9529:Ceacam1	UTSW	7	25,171,231 (GRCm39)	missense	possibly damaging	0.92
X0028:Ceacam1	UTSW	7	25,175,845 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGAGTTGCTCCTCCTGACGCTG -3'
(R):5'- CAAATGCCCTGAGACAAGGGTCAC -3'

Sequencing Primer
(F):5'- CTCCTGACGCTGACTGG -3'
(R):5'- CTGAGACAAGGGTCACTCTGAG -3'

Posted On

2013-09-30