Mutagenetix > Incidental Mutation

Incidental Mutation 'R3878:Ceacam5'

276944

Institutional Source

Beutler Lab

Gene Symbol

Ceacam5

Ensembl Gene

ENSMUSG00000008789

Gene Name

CEA cell adhesion molecule 5

Synonyms

Psg30, 1600029H12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R3878 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17447163-17495057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17484506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 416 (P416L)

Ref Sequence

ENSEMBL: ENSMUSP00000080582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081907]

AlphaFold

Q3UKK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000081907
AA Change: P416L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
AA Change: P416L

Domain	Start	End	E-Value	Type
IG	40	141	4.46e-1	SMART
IG_like	160	261	2.96e1	SMART
IG_like	277	378	5.86e0	SMART
IG_like	397	496	4.07e1	SMART
IG	514	615	2.64e0	SMART
IG_like	634	735	2.81e1	SMART
IG	753	853	1.72e-2	SMART
IGc2	869	933	1.28e-10	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	C	T	2: 130,247,560 (GRCm39)	T32M	probably benign	Het
A2ml1	T	C	6: 128,531,324 (GRCm39)	S915G	probably benign	Het
Ablim1	T	C	19: 57,025,642 (GRCm39)		probably null	Het
Atosb	T	G	4: 43,035,867 (GRCm39)	H288P	probably damaging	Het
Cadm2	C	T	16: 66,612,329 (GRCm39)	E78K	probably damaging	Het
Chsy3	T	C	18: 59,542,845 (GRCm39)	F661S	probably damaging	Het
Clstn3	G	A	6: 124,434,901 (GRCm39)	T338I	probably damaging	Het
Ctif	A	G	18: 75,653,048 (GRCm39)	I403T	probably damaging	Het
Dnaaf9	T	C	2: 130,620,423 (GRCm39)	R237G	possibly damaging	Het
Eprs1	T	A	1: 185,148,150 (GRCm39)		probably null	Het
Frs2	A	C	10: 116,914,815 (GRCm39)	S35A	probably benign	Het
Gpr155	C	T	2: 73,198,736 (GRCm39)	W394*	probably null	Het
Ift140	G	A	17: 25,247,918 (GRCm39)	V259M	probably benign	Het
Igkv9-124	A	T	6: 67,919,191 (GRCm39)	S74T	probably benign	Het
Krt14	C	T	11: 100,097,915 (GRCm39)	V123M	possibly damaging	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Nebl	T	C	2: 17,398,063 (GRCm39)	T457A	possibly damaging	Het
Nlrp4g	A	G	9: 124,349,362 (GRCm38)		noncoding transcript	Het
Nsa2	C	G	13: 97,268,542 (GRCm39)	G175A	probably benign	Het
Or8k40	T	C	2: 86,584,972 (GRCm39)	T37A	probably benign	Het
Pax1	A	T	2: 147,204,228 (GRCm39)		probably benign	Het
Pdzd2	T	C	15: 12,376,262 (GRCm39)	E1291G	probably benign	Het
Relb	G	A	7: 19,351,769 (GRCm39)	H115Y	probably damaging	Het
Rnase10	A	G	14: 51,246,889 (GRCm39)	E52G	probably damaging	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc14a2	C	T	18: 78,202,289 (GRCm39)	V614I	probably benign	Het
Slc20a2	T	C	8: 23,058,399 (GRCm39)	L645P	possibly damaging	Het
Smoc2	A	G	17: 14,545,879 (GRCm39)	D56G	probably damaging	Het
Szt2	A	G	4: 118,247,782 (GRCm39)	S789P	probably damaging	Het
Tenm2	A	G	11: 36,030,401 (GRCm39)		probably null	Het
Tm9sf3	A	G	19: 41,235,152 (GRCm39)	V169A	probably damaging	Het
Trbv13-1	C	T	6: 41,093,322 (GRCm39)	T86I	probably benign	Het
Trim24	A	G	6: 37,941,708 (GRCm39)	D886G	probably benign	Het
Trim33	A	G	3: 103,259,321 (GRCm39)	I1003M	probably damaging	Het
Trim37	T	C	11: 87,096,828 (GRCm39)	V777A	probably benign	Het
Ttc7	A	C	17: 87,678,166 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,596,364 (GRCm39)	D11856G	possibly damaging	Het
Vmn1r226	A	T	17: 20,908,260 (GRCm39)	D164V	possibly damaging	Het
Vmn1r34	G	A	6: 66,614,552 (GRCm39)	T62I	possibly damaging	Het
Wapl	T	C	14: 34,414,104 (GRCm39)	L322P	probably damaging	Het
Zfp62	A	G	11: 49,105,960 (GRCm39)	D17G	probably damaging	Het

Other mutations in Ceacam5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Ceacam5	APN	7	17,493,481 (GRCm39)	nonsense	probably null
IGL00981:Ceacam5	APN	7	17,479,458 (GRCm39)	missense	probably benign	0.08
IGL01314:Ceacam5	APN	7	17,481,181 (GRCm39)	nonsense	probably null
IGL01329:Ceacam5	APN	7	17,479,534 (GRCm39)	missense	probably damaging	0.98
IGL01389:Ceacam5	APN	7	17,481,300 (GRCm39)	missense	probably damaging	0.96
IGL01418:Ceacam5	APN	7	17,479,524 (GRCm39)	missense	probably damaging	1.00
IGL02418:Ceacam5	APN	7	17,493,359 (GRCm39)	missense	possibly damaging	0.71
IGL02734:Ceacam5	APN	7	17,484,737 (GRCm39)	missense	probably damaging	1.00
IGL03220:Ceacam5	APN	7	17,494,653 (GRCm39)	missense	probably damaging	1.00
IGL03377:Ceacam5	APN	7	17,449,056 (GRCm39)	missense	probably benign	0.15
IGL03395:Ceacam5	APN	7	17,479,304 (GRCm39)	splice site	probably benign
IGL03054:Ceacam5	UTSW	7	17,493,379 (GRCm39)	missense	possibly damaging	0.71
R0456:Ceacam5	UTSW	7	17,494,776 (GRCm39)	missense	possibly damaging	0.63
R0624:Ceacam5	UTSW	7	17,448,888 (GRCm39)	missense	probably benign	0.03
R0847:Ceacam5	UTSW	7	17,491,762 (GRCm39)	missense	possibly damaging	0.71
R0879:Ceacam5	UTSW	7	17,491,627 (GRCm39)	missense	probably benign	0.16
R0945:Ceacam5	UTSW	7	17,481,269 (GRCm39)	missense	probably damaging	1.00
R1382:Ceacam5	UTSW	7	17,486,090 (GRCm39)	missense	probably benign	0.33
R1474:Ceacam5	UTSW	7	17,481,159 (GRCm39)	missense	probably damaging	1.00
R1526:Ceacam5	UTSW	7	17,484,620 (GRCm39)	missense	probably damaging	1.00
R1793:Ceacam5	UTSW	7	17,481,320 (GRCm39)	missense	probably benign	0.01
R1851:Ceacam5	UTSW	7	17,448,835 (GRCm39)	nonsense	probably null
R1907:Ceacam5	UTSW	7	17,486,309 (GRCm39)	missense	possibly damaging	0.85
R1913:Ceacam5	UTSW	7	17,493,502 (GRCm39)	nonsense	probably null
R1990:Ceacam5	UTSW	7	17,491,805 (GRCm39)	missense	probably damaging	0.99
R1999:Ceacam5	UTSW	7	17,481,172 (GRCm39)	missense	possibly damaging	0.66
R2336:Ceacam5	UTSW	7	17,481,300 (GRCm39)	missense	probably benign	0.28
R2355:Ceacam5	UTSW	7	17,479,560 (GRCm39)	missense	probably damaging	1.00
R3106:Ceacam5	UTSW	7	17,481,248 (GRCm39)	missense	probably benign	0.06
R3423:Ceacam5	UTSW	7	17,491,562 (GRCm39)	missense	possibly damaging	0.52
R3432:Ceacam5	UTSW	7	17,448,901 (GRCm39)	missense	probably benign	0.06
R3686:Ceacam5	UTSW	7	17,494,748 (GRCm39)	missense	possibly damaging	0.94
R3713:Ceacam5	UTSW	7	17,493,263 (GRCm39)	missense	possibly damaging	0.52
R4214:Ceacam5	UTSW	7	17,486,076 (GRCm39)	missense	probably benign	0.00
R4335:Ceacam5	UTSW	7	17,486,054 (GRCm39)	missense	probably benign
R4725:Ceacam5	UTSW	7	17,494,602 (GRCm39)	missense	probably benign	0.26
R4823:Ceacam5	UTSW	7	17,491,669 (GRCm39)	missense	possibly damaging	0.71
R4833:Ceacam5	UTSW	7	17,486,183 (GRCm39)	missense	probably benign
R4986:Ceacam5	UTSW	7	17,491,758 (GRCm39)	missense	possibly damaging	0.85
R5099:Ceacam5	UTSW	7	17,479,513 (GRCm39)	missense	probably damaging	0.96
R5365:Ceacam5	UTSW	7	17,493,473 (GRCm39)	missense	probably damaging	0.98
R5522:Ceacam5	UTSW	7	17,449,005 (GRCm39)	missense	probably benign
R5605:Ceacam5	UTSW	7	17,481,161 (GRCm39)	missense	probably benign	0.03
R6199:Ceacam5	UTSW	7	17,448,810 (GRCm39)	missense	probably benign	0.00
R6222:Ceacam5	UTSW	7	17,479,472 (GRCm39)	missense	probably benign	0.15
R6320:Ceacam5	UTSW	7	17,481,123 (GRCm39)	missense	probably damaging	1.00
R6464:Ceacam5	UTSW	7	17,481,391 (GRCm39)	critical splice donor site	probably null
R6521:Ceacam5	UTSW	7	17,484,756 (GRCm39)	critical splice donor site	probably null
R6568:Ceacam5	UTSW	7	17,479,416 (GRCm39)	missense	probably damaging	1.00
R6573:Ceacam5	UTSW	7	17,447,372 (GRCm39)	start codon destroyed	probably null	0.70
R6814:Ceacam5	UTSW	7	17,486,212 (GRCm39)	nonsense	probably null
R6872:Ceacam5	UTSW	7	17,486,212 (GRCm39)	nonsense	probably null
R6930:Ceacam5	UTSW	7	17,484,759 (GRCm39)	splice site	probably null
R7071:Ceacam5	UTSW	7	17,484,577 (GRCm39)	missense	possibly damaging	0.49
R7121:Ceacam5	UTSW	7	17,479,462 (GRCm39)	missense	probably benign	0.29
R7174:Ceacam5	UTSW	7	17,491,839 (GRCm39)	critical splice donor site	probably null
R7187:Ceacam5	UTSW	7	17,493,410 (GRCm39)	missense	possibly damaging	0.85
R7355:Ceacam5	UTSW	7	17,481,312 (GRCm39)	missense	probably damaging	1.00
R7411:Ceacam5	UTSW	7	17,484,678 (GRCm39)	missense	probably damaging	0.99
R7462:Ceacam5	UTSW	7	17,494,764 (GRCm39)	missense	probably damaging	1.00
R7612:Ceacam5	UTSW	7	17,493,341 (GRCm39)	missense	possibly damaging	0.86
R7803:Ceacam5	UTSW	7	17,493,317 (GRCm39)	missense	probably damaging	0.98
R7943:Ceacam5	UTSW	7	17,479,491 (GRCm39)	missense	probably benign	0.26
R8342:Ceacam5	UTSW	7	17,486,171 (GRCm39)	missense	possibly damaging	0.53
R8356:Ceacam5	UTSW	7	17,479,624 (GRCm39)	missense	possibly damaging	0.68
R8426:Ceacam5	UTSW	7	17,493,266 (GRCm39)	missense	possibly damaging	0.51
R8456:Ceacam5	UTSW	7	17,479,624 (GRCm39)	missense	possibly damaging	0.68
R8534:Ceacam5	UTSW	7	17,484,671 (GRCm39)	missense	probably benign	0.20
R8815:Ceacam5	UTSW	7	17,493,285 (GRCm39)	missense	possibly damaging	0.85
R8871:Ceacam5	UTSW	7	17,494,827 (GRCm39)	missense	probably benign	0.12
R9021:Ceacam5	UTSW	7	17,448,877 (GRCm39)	missense	possibly damaging	0.48
R9157:Ceacam5	UTSW	7	17,493,419 (GRCm39)	missense	possibly damaging	0.71
R9199:Ceacam5	UTSW	7	17,479,350 (GRCm39)	missense	probably benign	0.16
R9372:Ceacam5	UTSW	7	17,481,267 (GRCm39)	missense	possibly damaging	0.84
R9579:Ceacam5	UTSW	7	17,479,561 (GRCm39)	missense	probably damaging	1.00
R9605:Ceacam5	UTSW	7	17,493,520 (GRCm39)	missense	probably damaging	0.98
R9719:Ceacam5	UTSW	7	17,491,835 (GRCm39)	missense	probably damaging	0.97
X0020:Ceacam5	UTSW	7	17,494,834 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTAGGACAGGGAGACACTTCC -3'
(R):5'- TTTTGCATGACCCTCTGGAG -3'

Sequencing Primer
(F):5'- TCCTCCACAGGCTTTACAATGAG -3'
(R):5'- GCAGCAGGGATCCATTGTTGTATAC -3'

Posted On

2015-04-06