Mutagenetix > Incidental Mutation

Incidental Mutation 'R3975:Ceacam16'

312600

Institutional Source

Beutler Lab

Gene Symbol

Ceacam16

Ensembl Gene

ENSMUSG00000014686

Gene Name

CEA cell adhesion molecule 16

Synonyms

LOC330483

MMRRC Submission

040939-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3975 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

19586022-19595224 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19587537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 410 (Q410H)

Ref Sequence

ENSEMBL: ENSMUSP00000014830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014830] [ENSMUST00000172815] [ENSMUST00000208198]

AlphaFold

E9QA28

Predicted Effect

probably damaging
Transcript: ENSMUST00000014830
AA Change: Q410H

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

SMART Domains

Protein: ENSMUSP00000014830
Gene: ENSMUSG00000014686
AA Change: Q410H

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	28	129	4.04e0	SMART
IG	140	221	2.5e-4	SMART
IGc2	244	301	4.43e-5	SMART
IG	324	423	1.12e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172815

Predicted Effect

probably benign
Transcript: ENSMUST00000208198

Meta Mutation Damage Score

0.2095

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

95% (59/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired hearing at low and high frequencies. Mice homozygous for a different knock-out allele show altered tectorial membrane structure and enhanced spontaneous, stimulus-frequency, and transiently evoked otoacoustic emissions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	T	A	1: 63,586,888 (GRCm39)	Y416*	probably null	Het
Akr1b10	G	T	6: 34,369,431 (GRCm39)		probably null	Het
Arap2	G	T	5: 62,906,237 (GRCm39)	P261T	possibly damaging	Het
Bckdha	C	A	7: 25,330,858 (GRCm39)	D53Y	probably damaging	Het
Bfsp2	A	G	9: 103,357,271 (GRCm39)	V52A	probably benign	Het
Bola3	T	C	6: 83,328,249 (GRCm39)	L45P	probably benign	Het
Cacna2d4	A	G	6: 119,255,134 (GRCm39)		probably null	Het
Ccn6	C	G	10: 39,031,094 (GRCm39)	C143S	probably damaging	Het
Cenpe	A	G	3: 134,940,986 (GRCm39)		probably null	Het
Cenpe	T	C	3: 134,944,233 (GRCm39)		probably null	Het
Clca3a1	A	T	3: 144,738,400 (GRCm39)	V36D	probably damaging	Het
Copa	T	A	1: 171,948,812 (GRCm39)	S1155T	probably benign	Het
Crb2	C	A	2: 37,683,680 (GRCm39)	P1061T	possibly damaging	Het
Crot	T	C	5: 9,027,541 (GRCm39)	T264A	probably benign	Het
Cyp51	C	T	5: 4,141,877 (GRCm39)	G346S	probably damaging	Het
Dnah6	A	G	6: 73,098,975 (GRCm39)	S2027P	possibly damaging	Het
Fbh1	T	C	2: 11,772,021 (GRCm39)	H220R	possibly damaging	Het
Gdf2	T	A	14: 33,666,791 (GRCm39)	V171D	probably damaging	Het
Golgb1	T	G	16: 36,738,933 (GRCm39)	V2424G	probably damaging	Het
Gpbp1l1	T	C	4: 116,428,182 (GRCm39)		probably null	Het
Gpx6	C	A	13: 21,501,828 (GRCm39)	S150Y	probably damaging	Het
Greb1l	A	G	18: 10,522,247 (GRCm39)	N672S	possibly damaging	Het
Kcnma1	C	T	14: 24,053,815 (GRCm39)		probably null	Het
Lrba	T	C	3: 86,258,562 (GRCm39)	F1350L	probably damaging	Het
Nat8f4	A	G	6: 85,878,052 (GRCm39)	V157A	possibly damaging	Het
Niban1	T	C	1: 151,525,086 (GRCm39)	Y164H	probably damaging	Het
Nt5dc2	T	C	14: 30,860,832 (GRCm39)	S439P	probably damaging	Het
Or2ag12	T	C	7: 106,276,992 (GRCm39)	R234G	probably damaging	Het
Or2n1	A	G	17: 38,486,386 (GRCm39)	N137S	probably benign	Het
Or5t18	G	A	2: 86,636,804 (GRCm39)	P180S	possibly damaging	Het
Or8k40	T	A	2: 86,584,887 (GRCm39)	H65L	probably damaging	Het
Orm3	A	T	4: 63,274,395 (GRCm39)		probably null	Het
Otof	A	G	5: 30,528,056 (GRCm39)	L1929P	probably damaging	Het
Pex5l	C	A	3: 33,069,164 (GRCm39)	C111F	probably damaging	Het
Plcl1	T	A	1: 55,737,374 (GRCm39)	M905K	probably benign	Het
Prdm6	T	C	18: 53,673,278 (GRCm39)	I186T	possibly damaging	Het
Rara	T	G	11: 98,861,395 (GRCm39)	I236S	probably damaging	Het
Reln	A	T	5: 22,200,364 (GRCm39)	S1379T	possibly damaging	Het
Rnps1-ps	A	T	6: 7,983,149 (GRCm39)		noncoding transcript	Het
Rp1l1	T	A	14: 64,267,758 (GRCm39)	Y1115N	probably damaging	Het
Rpe65	A	T	3: 159,310,222 (GRCm39)	N135I	probably damaging	Het
Rps6	A	G	4: 86,775,050 (GRCm39)	V18A	probably benign	Het
Scrn3	T	C	2: 73,166,121 (GRCm39)	S385P	possibly damaging	Het
Sis	T	C	3: 72,850,968 (GRCm39)	T577A	probably damaging	Het
Slx1b	G	A	7: 126,290,979 (GRCm39)	L239F	probably damaging	Het
Smad4	G	T	18: 73,810,807 (GRCm39)	T59K	possibly damaging	Het
Smad6	A	G	9: 63,928,212 (GRCm39)	V32A	probably benign	Het
Smc6	T	A	12: 11,324,075 (GRCm39)	F73L	probably damaging	Het
Sorbs2	T	C	8: 46,225,747 (GRCm39)		probably null	Het
Svbp	T	A	4: 119,053,090 (GRCm39)	F32I	probably benign	Het
Tap1	C	A	17: 34,408,541 (GRCm39)		probably benign	Het
Tesk1	C	T	4: 43,445,786 (GRCm39)	P280S	possibly damaging	Het
Thrb	A	G	14: 18,033,456 (GRCm38)	I406M	probably damaging	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Ttn	T	C	2: 76,706,997 (GRCm39)		probably benign	Het
Umodl1	C	A	17: 31,203,763 (GRCm39)	Y525*	probably null	Het
Vmn2r70	C	T	7: 85,208,540 (GRCm39)	V646I	probably benign	Het
Wipf1	C	T	2: 73,267,513 (GRCm39)	G295D	probably benign	Het
Zim1	A	T	7: 6,680,129 (GRCm39)	H511Q	probably damaging	Het

Other mutations in Ceacam16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01401:Ceacam16	APN	7	19,595,054 (GRCm39)	missense	probably benign
IGL02643:Ceacam16	APN	7	19,595,086 (GRCm39)	unclassified	probably benign
BB006:Ceacam16	UTSW	7	19,587,556 (GRCm39)	missense	probably damaging	1.00
BB016:Ceacam16	UTSW	7	19,587,556 (GRCm39)	missense	probably damaging	1.00
R1793:Ceacam16	UTSW	7	19,590,041 (GRCm39)	missense	probably damaging	1.00
R1830:Ceacam16	UTSW	7	19,592,803 (GRCm39)	missense	possibly damaging	0.90
R2153:Ceacam16	UTSW	7	19,595,066 (GRCm39)	missense	probably benign
R3980:Ceacam16	UTSW	7	19,592,558 (GRCm39)	missense	probably benign
R4433:Ceacam16	UTSW	7	19,587,514 (GRCm39)	missense	possibly damaging	0.65
R4634:Ceacam16	UTSW	7	19,592,531 (GRCm39)	missense	probably benign
R5839:Ceacam16	UTSW	7	19,590,008 (GRCm39)	nonsense	probably null
R5973:Ceacam16	UTSW	7	19,590,262 (GRCm39)	missense	probably damaging	1.00
R6167:Ceacam16	UTSW	7	19,595,182 (GRCm39)	unclassified	probably benign
R6969:Ceacam16	UTSW	7	19,586,230 (GRCm39)	makesense	probably null
R7648:Ceacam16	UTSW	7	19,586,203 (GRCm39)	missense	unknown
R7929:Ceacam16	UTSW	7	19,587,556 (GRCm39)	missense	probably damaging	1.00
R8506:Ceacam16	UTSW	7	19,586,195 (GRCm39)	missense	unknown
R8878:Ceacam16	UTSW	7	19,592,656 (GRCm39)	missense	possibly damaging	0.96
R9583:Ceacam16	UTSW	7	19,587,803 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTATACCTTGGTGGACGTCATC -3'
(R):5'- CTGCTAGTCTATGCCTGGTATCG -3'

Sequencing Primer
(F):5'- CGTCATCGTTTGAGAGGCAAG -3'
(R):5'- CTATGCCTGGTATCGTGGACC -3'

Posted On

2015-04-30