Mutagenetix > Incidental Mutation

Incidental Mutation 'R9149:Ceacam1'

694890

Institutional Source

Beutler Lab

Gene Symbol

Ceacam1

Ensembl Gene

ENSMUSG00000074272

Gene Name

carcinoembryonic antigen-related cell adhesion molecule 1

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R9149 (G1)

Quality Score

173.009

Status

Not validated

Chromosome

Chromosomal Location

25461707-25477603 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25473935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 276 (N276S)

Ref Sequence

ENSEMBL: ENSMUSP00000096263 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098666
AA Change: N276S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096263
Gene: ENSMUSG00000074272
AA Change: N276S

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

SMART Domains

Protein: ENSMUSP00000096265
Gene: ENSMUSG00000074272

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: N276S

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096266
Gene: ENSMUSG00000074272
AA Change: N276S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206171
AA Change: N276S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000206583

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206676
AA Change: N276S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000206687

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (90/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,446,304 (GRCm38)	S103N	probably benign	Het
Ace	A	G	11: 105,972,473 (GRCm38)	D358G	possibly damaging	Het
Acvr2b	A	T	9: 119,428,050 (GRCm38)	H115L	probably damaging	Het
Adam15	G	A	3: 89,347,435 (GRCm38)	T106I	possibly damaging	Het
Adamts16	A	G	13: 70,735,829 (GRCm38)	C1076R	probably damaging	Het
Adcy5	A	G	16: 35,272,111 (GRCm38)	Y614C	probably damaging	Het
Adhfe1	A	T	1: 9,557,051 (GRCm38)	H225L	probably benign	Het
Aff3	A	G	1: 38,181,316 (GRCm38)	I1171T	probably damaging	Het
Agps	T	A	2: 75,866,838 (GRCm38)	M334K	probably damaging	Het
Akr1e1	A	G	13: 4,602,679 (GRCm38)		probably null	Het
Als2cl	G	A	9: 110,889,123 (GRCm38)	V311M	probably benign	Het
Amdhd1	A	T	10: 93,539,951 (GRCm38)	L7H	probably damaging	Het
Apba1	A	T	19: 23,893,418 (GRCm38)	I205F	probably damaging	Het
Arhgap26	A	T	18: 39,111,864 (GRCm38)	E187D	possibly damaging	Het
Ash1l	A	T	3: 89,007,223 (GRCm38)	H1720L	probably benign	Het
Atp9a	T	C	2: 168,734,068 (GRCm38)		probably benign	Het
Bcl7c	G	A	7: 127,708,523 (GRCm38)	A2V	probably damaging	Het
Catsperg1	G	C	7: 29,210,487 (GRCm38)	P72R	probably benign	Het
Ccdc103	G	A	11: 102,884,096 (GRCm38)	G174R	probably benign	Het
Ccdc171	A	T	4: 83,694,275 (GRCm38)	K976M	probably damaging	Het
Cep152	T	C	2: 125,619,883 (GRCm38)	N91S	probably damaging	Het
Cep152	T	C	2: 125,621,207 (GRCm38)	E18G	probably damaging	Het
Cers3	T	C	7: 66,743,694 (GRCm38)	L17P	probably benign	Het
Cpsf3	A	G	12: 21,306,843 (GRCm38)	N489S	possibly damaging	Het
Cramp1	A	G	17: 24,968,946 (GRCm38)	S1225P	probably damaging	Het
Dck	G	A	5: 88,765,307 (GRCm38)	G18R	probably benign	Het
Dnah5	A	T	15: 28,387,768 (GRCm38)	E3124D	probably benign	Het
Dync2i2	T	A	2: 30,033,941 (GRCm38)	T191S	probably benign	Het
Eogt	T	G	6: 97,113,878 (GRCm38)	L433F	probably damaging	Het
Fam135b	A	G	15: 71,462,895 (GRCm38)	S817P		Het
Fsip2	T	C	2: 82,982,030 (GRCm38)	Y2898H	possibly damaging	Het
Fzr1	T	C	10: 81,369,415 (GRCm38)	H249R	probably benign	Het
Gbp10	T	G	5: 105,218,995 (GRCm38)	Q457P	probably damaging	Het
Gin1	G	C	1: 97,783,094 (GRCm38)	L167F	probably damaging	Het
Gm14226	A	T	2: 155,024,923 (GRCm38)	I267F	probably damaging	Het
Gmnc	A	G	16: 26,962,892 (GRCm38)		probably null	Het
Hectd2	A	T	19: 36,599,002 (GRCm38)	I311F	probably damaging	Het
Heg1	A	G	16: 33,738,591 (GRCm38)	K1085E	probably benign	Het
Hmbs	G	A	9: 44,341,686 (GRCm38)	Q34*	probably null	Het
Hyal6	T	A	6: 24,734,152 (GRCm38)	M28K	probably benign	Het
Ifi27	T	C	12: 103,439,419 (GRCm38)	V141A	possibly damaging	Het
Ift122	T	A	6: 115,890,531 (GRCm38)	I414N	probably damaging	Het
Iglv2	A	T	16: 19,260,684 (GRCm38)	V23E	probably damaging	Het
Itgax	A	T	7: 128,131,469 (GRCm38)	I120L	probably benign	Het
Kifc3	A	G	8: 95,126,689 (GRCm38)	I13T	probably benign	Het
Lmod3	T	C	6: 97,247,664 (GRCm38)	N399D	probably damaging	Het
Macf1	A	T	4: 123,471,533 (GRCm38)	I3145K	probably benign	Het
Map2k5	A	C	9: 63,293,724 (GRCm38)	I209S	probably damaging	Het
Mbd5	A	G	2: 49,251,376 (GRCm38)	E117G	probably damaging	Het
Milr1	A	G	11: 106,761,279 (GRCm38)	H172R	probably benign	Het
Myod1	A	C	7: 46,377,169 (GRCm38)	D166A		Het
Neb	C	T	2: 52,210,866 (GRCm38)	V4647M	possibly damaging	Het
Nek1	A	T	8: 61,121,021 (GRCm38)	D1101V	probably damaging	Het
Nlrp2	A	T	7: 5,327,573 (GRCm38)	V608D	probably benign	Het
Noc3l	G	A	19: 38,812,391 (GRCm38)	Q216*	probably null	Het
Nos1	G	C	5: 117,879,337 (GRCm38)	R255P	probably benign	Het
Nup160	T	A	2: 90,722,241 (GRCm38)		probably benign	Het
Nxt2	C	T	X: 142,237,751 (GRCm38)	A118V	possibly damaging	Het
Oat	C	T	7: 132,564,277 (GRCm38)	S193N	probably benign	Het
Oma1	A	G	4: 103,325,017 (GRCm38)		probably null	Het
Or12e13	G	T	2: 87,833,179 (GRCm38)	G47*	probably null	Het
Or1e16	T	A	11: 73,396,027 (GRCm38)		probably benign	Het
Or1j15	T	G	2: 36,568,976 (GRCm38)	F126C	probably benign	Het
Or6c206	A	G	10: 129,261,315 (GRCm38)	Y118C	probably damaging	Het
Or6c216	A	G	10: 129,842,613 (GRCm38)	V143A	probably damaging	Het
Os9	A	G	10: 127,098,049 (GRCm38)	S500P	possibly damaging	Het
Osbpl11	A	T	16: 33,227,290 (GRCm38)	N541I		Het
Pcnx4	A	G	12: 72,566,897 (GRCm38)	I539V	probably benign	Het
Ppfia3	T	A	7: 45,350,293 (GRCm38)		probably null	Het
Ppp1r3a	T	C	6: 14,722,099 (GRCm38)	K275E	probably benign	Het
Pten	A	G	19: 32,792,572 (GRCm38)	N63S	probably benign	Het
Rptor	A	G	11: 119,887,070 (GRCm38)	N1020S	probably benign	Het
Sall2	C	A	14: 52,313,216 (GRCm38)	D841Y	possibly damaging	Het
Sbno1	T	A	5: 124,381,699 (GRCm38)	H1172L	probably benign	Het
Scaf4	A	T	16: 90,230,166 (GRCm38)	L921Q	probably damaging	Het
Sec22c	C	A	9: 121,695,684 (GRCm38)	R11L	probably damaging	Het
Skint6	T	A	4: 113,176,976 (GRCm38)	D318V	probably damaging	Het
Slc22a28	T	C	19: 8,071,840 (GRCm38)	N348S	probably benign	Het
Slc44a2	G	T	9: 21,342,009 (GRCm38)	K77N	possibly damaging	Het
Smc1b	C	T	15: 85,066,230 (GRCm38)	V1198I	probably benign	Het
Spef2	A	T	15: 9,717,482 (GRCm38)	M316K	probably damaging	Het
Stra8	T	C	6: 34,934,081 (GRCm38)	Y215H	probably damaging	Het
Sv2a	G	T	3: 96,189,694 (GRCm38)	R445L	probably benign	Het
Sycp1	A	C	3: 102,851,628 (GRCm38)	L771R	probably damaging	Het
Tchp	A	T	5: 114,721,123 (GRCm38)	R493*	probably null	Het
Ttc13	G	A	8: 124,683,300 (GRCm38)	A391V	probably benign	Het
Unc13b	C	T	4: 43,176,186 (GRCm38)	T2338I	unknown	Het
Wac	A	G	18: 7,921,592 (GRCm38)	D576G	probably damaging	Het
Xdh	T	C	17: 73,915,693 (GRCm38)	N559S	probably benign	Het
Zscan20	A	T	4: 128,588,121 (GRCm38)	S583T	probably benign	Het

Other mutations in Ceacam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00701:Ceacam1	APN	7	25,471,914 (GRCm38)	missense	possibly damaging	0.86
IGL01766:Ceacam1	APN	7	25,471,995 (GRCm38)	missense	probably damaging	1.00
IGL02094:Ceacam1	APN	7	25,474,543 (GRCm38)	missense	probably damaging	1.00
IGL02869:Ceacam1	APN	7	25,476,541 (GRCm38)	missense	probably benign	0.07
IGL03325:Ceacam1	APN	7	25,476,487 (GRCm38)	missense	possibly damaging	0.83
PIT4445001:Ceacam1	UTSW	7	25,476,456 (GRCm38)	missense	probably damaging	1.00
PIT4810001:Ceacam1	UTSW	7	25,471,975 (GRCm38)	missense	probably damaging	1.00
R0464:Ceacam1	UTSW	7	25,472,017 (GRCm38)	missense	possibly damaging	0.64
R1270:Ceacam1	UTSW	7	25,466,314 (GRCm38)	splice site	probably null
R1771:Ceacam1	UTSW	7	25,472,044 (GRCm38)	missense	probably benign	0.17
R1819:Ceacam1	UTSW	7	25,463,860 (GRCm38)	missense	possibly damaging	0.68
R1964:Ceacam1	UTSW	7	25,474,708 (GRCm38)	missense	probably benign	0.13
R2048:Ceacam1	UTSW	7	25,476,688 (GRCm38)	missense	probably benign	0.09
R2760:Ceacam1	UTSW	7	25,477,474 (GRCm38)	missense	probably damaging	0.99
R2857:Ceacam1	UTSW	7	25,474,017 (GRCm38)	missense	probably damaging	0.96
R2859:Ceacam1	UTSW	7	25,474,017 (GRCm38)	missense	probably damaging	0.96
R3546:Ceacam1	UTSW	7	25,471,914 (GRCm38)	missense	probably benign	0.07
R4471:Ceacam1	UTSW	7	25,474,600 (GRCm38)	missense	possibly damaging	0.93
R4606:Ceacam1	UTSW	7	25,474,526 (GRCm38)	missense	probably damaging	0.97
R4810:Ceacam1	UTSW	7	25,474,520 (GRCm38)	makesense	probably null
R5291:Ceacam1	UTSW	7	25,471,831 (GRCm38)	missense	probably damaging	0.99
R5405:Ceacam1	UTSW	7	25,463,865 (GRCm38)	missense	probably benign	0.41
R5423:Ceacam1	UTSW	7	25,474,526 (GRCm38)	missense	probably benign	0.01
R5851:Ceacam1	UTSW	7	25,474,600 (GRCm38)	missense	possibly damaging	0.70
R5967:Ceacam1	UTSW	7	25,474,742 (GRCm38)	missense	probably damaging	0.97
R6216:Ceacam1	UTSW	7	25,471,996 (GRCm38)	missense	probably benign	0.19
R6235:Ceacam1	UTSW	7	25,471,792 (GRCm38)	splice site	probably null
R6323:Ceacam1	UTSW	7	25,474,651 (GRCm38)	missense	probably damaging	1.00
R6545:Ceacam1	UTSW	7	25,473,854 (GRCm38)	missense	probably damaging	1.00
R7371:Ceacam1	UTSW	7	25,474,720 (GRCm38)	missense	possibly damaging	0.95
R7760:Ceacam1	UTSW	7	25,472,025 (GRCm38)	missense	probably damaging	1.00
R7790:Ceacam1	UTSW	7	25,473,950 (GRCm38)	missense	probably damaging	1.00
R7869:Ceacam1	UTSW	7	25,476,529 (GRCm38)	missense	probably damaging	0.97
R7934:Ceacam1	UTSW	7	25,463,795 (GRCm38)	missense	possibly damaging	0.68
R8189:Ceacam1	UTSW	7	25,473,918 (GRCm38)	missense	probably damaging	0.96
R8907:Ceacam1	UTSW	7	25,472,019 (GRCm38)	missense	possibly damaging	0.88
R8967:Ceacam1	UTSW	7	25,463,872 (GRCm38)	missense	possibly damaging	0.48
R9055:Ceacam1	UTSW	7	25,471,874 (GRCm38)	missense	probably damaging	1.00
R9529:Ceacam1	UTSW	7	25,471,806 (GRCm38)	missense	possibly damaging	0.92
X0028:Ceacam1	UTSW	7	25,476,420 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGATGCTGGTTTGCACCTTC -3'
(R):5'- TAGAGACCAGGATTTCCCCTTC -3'

Sequencing Primer
(F):5'- GGTTTGCACCTTCCCAGAACAC -3'
(R):5'- CCCTCTGCTGACGTCACATTTG -3'

Posted On

2022-01-20