Mutagenetix > Incidental Mutation

Incidental Mutation 'R9070:Ceacam9'

689492

Institutional Source

Beutler Lab

Gene Symbol

Ceacam9

Ensembl Gene

ENSMUSG00000007209

Gene Name

CEA cell adhesion molecule 9

Synonyms

mmCGM8, Cea-5, Cea5

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9070 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16455854-16460035 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16457787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 100 (V100A)

Ref Sequence

ENSEMBL: ENSMUSP00000001984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001984] [ENSMUST00000206252]

AlphaFold

Q78T27

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001984
AA Change: V100A

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001984
Gene: ENSMUSG00000007209
AA Change: V100A

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
IG	40	140	6.76e-1	SMART
IGc2	156	220	3.33e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206252
AA Change: V105A

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

MGI Phenotype

PHENOTYPE: Animals homozygous for a mutation in this gene are fertile, viable, and exhibit normal growth and development with normal reproductive system morphology and physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	T	C	16: 35,100,770 (GRCm39)	L774P	probably damaging	Het
Aldh2	T	C	5: 121,707,032 (GRCm39)	E495G	probably damaging	Het
Als2cl	T	C	9: 110,718,288 (GRCm39)	V343A	probably benign	Het
Antxrl	T	A	14: 33,793,671 (GRCm39)	C466*	probably null	Het
Aoc1l3	A	G	6: 48,965,329 (GRCm39)	N446D	possibly damaging	Het
Arc	A	G	15: 74,543,833 (GRCm39)	L130P	probably damaging	Het
Barhl1	C	A	2: 28,805,423 (GRCm39)	R90L	probably benign	Het
Baz2a	A	G	10: 127,958,931 (GRCm39)	M1149V	probably benign	Het
Bsn	G	A	9: 107,987,295 (GRCm39)	S106L		Het
Calu	A	G	6: 29,356,567 (GRCm39)	E31G	probably benign	Het
Cdh23	T	G	10: 60,173,539 (GRCm39)	I1650L	probably benign	Het
Dnaaf9	A	T	2: 130,654,793 (GRCm39)	S159R	possibly damaging	Het
Dpyd	T	G	3: 118,792,892 (GRCm39)	I533S	probably damaging	Het
Fam184a	T	C	10: 53,514,373 (GRCm39)	D1016G	possibly damaging	Het
Fv1	T	A	4: 147,954,414 (GRCm39)	W327R	probably damaging	Het
Gbp7	A	G	3: 142,249,762 (GRCm39)	D411G	probably benign	Het
Gldc	A	T	19: 30,080,404 (GRCm39)	D885E	probably damaging	Het
H4c3	A	G	13: 23,882,170 (GRCm39)	V88A	probably damaging	Het
Hdgfl2	T	C	17: 56,389,371 (GRCm39)	W82R	possibly damaging	Het
Hif1an	A	G	19: 44,551,458 (GRCm39)	S48G	probably benign	Het
Itgal	C	T	7: 126,927,873 (GRCm39)	R1023W	probably null	Het
Kif13a	C	A	13: 46,905,934 (GRCm39)	A1618S	probably benign	Het
Lrrc57	A	G	2: 120,436,565 (GRCm39)	L181P	probably damaging	Het
Mptx2	T	A	1: 173,102,119 (GRCm39)	D190V	probably benign	Het
Mroh5	A	G	15: 73,656,688 (GRCm39)	F590L	probably damaging	Het
Net1	A	G	13: 3,936,103 (GRCm39)	I381T	probably damaging	Het
Nipbl	T	A	15: 8,368,215 (GRCm39)	K1169I	possibly damaging	Het
Nop9	G	A	14: 55,990,757 (GRCm39)	R563H	probably damaging	Het
Obscn	A	T	11: 59,013,457 (GRCm39)	L1130Q	probably damaging	Het
Or1j13	A	T	2: 36,369,268 (GRCm39)	S291R	probably damaging	Het
Or2b2b	A	T	13: 21,858,985 (GRCm39)	M43K	probably benign	Het
Pcgf1	T	A	6: 83,057,076 (GRCm39)	H202Q	probably damaging	Het
Pcnx3	A	G	19: 5,715,601 (GRCm39)	L1883P	probably benign	Het
Pde4b	T	C	4: 102,458,994 (GRCm39)	S505P	probably damaging	Het
Pitpnm2	C	A	5: 124,259,375 (GRCm39)	R1320L	probably damaging	Het
Plscr4	C	A	9: 92,372,281 (GRCm39)		probably benign	Het
Pot1a	C	T	6: 25,744,629 (GRCm39)	R625Q		Het
Pou4f1	A	G	14: 104,704,067 (GRCm39)	S122P	probably damaging	Het
Ppl	A	G	16: 4,907,208 (GRCm39)	V1029A	probably benign	Het
Prex1	A	G	2: 166,427,707 (GRCm39)	F982L	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Rbks	A	G	5: 31,854,890 (GRCm39)	V19A	probably benign	Het
Rps18-ps5	A	G	13: 28,441,902 (GRCm39)	Y95C	probably benign	Het
Rps20	A	T	4: 3,835,280 (GRCm39)	D5E	probably benign	Het
Sacs	C	A	14: 61,447,751 (GRCm39)	P3266T	probably benign	Het
Septin7	A	G	9: 25,175,507 (GRCm39)		probably benign	Het
Slc28a2b	A	G	2: 122,352,154 (GRCm39)	T331A	probably damaging	Het
Tasor	T	C	14: 27,194,484 (GRCm39)	V1228A	probably benign	Het
Trdv5	T	C	14: 54,386,258 (GRCm39)	D69G	probably damaging	Het
Treml4	G	T	17: 48,576,781 (GRCm39)	G180C	probably damaging	Het

Other mutations in Ceacam9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Ceacam9	APN	7	16,457,886 (GRCm39)	missense	probably damaging	0.98
IGL02156:Ceacam9	APN	7	16,457,544 (GRCm39)	splice site	probably benign
R1891:Ceacam9	UTSW	7	16,457,880 (GRCm39)	missense	probably damaging	0.98
R1981:Ceacam9	UTSW	7	16,459,232 (GRCm39)	missense	probably benign	0.16
R1982:Ceacam9	UTSW	7	16,459,232 (GRCm39)	missense	probably benign	0.16
R2121:Ceacam9	UTSW	7	16,455,928 (GRCm39)	missense	probably benign	0.00
R4656:Ceacam9	UTSW	7	16,457,574 (GRCm39)	missense	probably benign	0.03
R4678:Ceacam9	UTSW	7	16,459,334 (GRCm39)	missense	probably damaging	1.00
R5026:Ceacam9	UTSW	7	16,459,122 (GRCm39)	critical splice acceptor site	probably null
R7371:Ceacam9	UTSW	7	16,457,652 (GRCm39)	missense	possibly damaging	0.67
R7466:Ceacam9	UTSW	7	16,457,780 (GRCm39)	missense	probably benign	0.00
R7810:Ceacam9	UTSW	7	16,457,658 (GRCm39)	missense	possibly damaging	0.84
R7909:Ceacam9	UTSW	7	16,457,793 (GRCm39)	missense	probably damaging	0.99
R9010:Ceacam9	UTSW	7	16,455,916 (GRCm39)	missense	probably benign	0.01
R9480:Ceacam9	UTSW	7	16,457,783 (GRCm39)	missense	probably damaging	1.00
RF022:Ceacam9	UTSW	7	16,459,304 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- CTCACTATTGAATTAGTGCCACCC -3'
(R):5'- TATAGCCGATGCCTGATGGTC -3'

Sequencing Primer
(F):5'- ACCCATGGTTGCCGAAG -3'
(R):5'- GCCTGATGGTCCTATAAATAAAAGG -3'

Posted On

2021-11-19