Mutagenetix > Incidental Mutation

Incidental Mutation 'R9583:Ceacam16'

722651

Institutional Source

Beutler Lab

Gene Symbol

Ceacam16

Ensembl Gene

ENSMUSG00000014686

Gene Name

CEA cell adhesion molecule 16

Synonyms

LOC330483

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9583 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19586022-19595224 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19587803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 322 (I322V)

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: I322V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000014830
Gene: ENSMUSG00000014686
AA Change: I322V

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

possibly damaging
Transcript: ENSMUST00000208198
AA Change: I62V

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	T	10: 28,862,092 (GRCm39)	I66N	probably damaging	Het
Adgrg3	A	T	8: 95,760,071 (GRCm39)	I97F	probably benign	Het
AI987944	T	A	7: 41,023,937 (GRCm39)	R350S	probably benign	Het
Arap3	T	C	18: 38,109,096 (GRCm39)	T1214A	probably damaging	Het
Arid5a	A	G	1: 36,356,739 (GRCm39)	E127G	possibly damaging	Het
Bbx	T	C	16: 50,044,920 (GRCm39)	E547G	possibly damaging	Het
Chd2	G	T	7: 73,130,230 (GRCm39)	N808K	probably damaging	Het
Copg2	A	C	6: 30,787,399 (GRCm39)	L615*	probably null	Het
Cyp21a1	A	G	17: 35,022,017 (GRCm39)	L221P	probably damaging	Het
Dnah9	C	A	11: 65,856,507 (GRCm39)	V2885L	probably damaging	Het
Dnajb13	A	G	7: 100,152,446 (GRCm39)	L290P	probably damaging	Het
Eif3e	A	G	15: 43,128,957 (GRCm39)	V221A	probably damaging	Het
Evc	G	A	5: 37,473,701 (GRCm39)	R511*	probably null	Het
Far2	C	T	6: 148,059,434 (GRCm39)	P250S	probably damaging	Het
Fmo1	T	A	1: 162,686,996 (GRCm39)	T44S		Het
Grid1	A	G	14: 35,302,492 (GRCm39)	E919G	possibly damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hoxb2	A	G	11: 96,242,725 (GRCm39)	E30G	probably damaging	Het
Il5ra	G	A	6: 106,689,331 (GRCm39)	P75L	unknown	Het
Il5ra	T	A	6: 106,721,297 (GRCm39)	M1L	possibly damaging	Het
Inpp4b	T	C	8: 82,497,555 (GRCm39)		probably null	Het
Itgb8	T	A	12: 119,153,708 (GRCm39)	H269L	possibly damaging	Het
Jrk	G	A	15: 74,578,403 (GRCm39)	A294V	probably damaging	Het
Knl1	A	T	2: 118,887,782 (GRCm39)	D2V	probably damaging	Het
Lrrc71	T	C	3: 87,650,258 (GRCm39)	I272V	possibly damaging	Het
Mdn1	T	C	4: 32,741,372 (GRCm39)	S3825P	probably damaging	Het
Mex3d	C	A	10: 80,218,129 (GRCm39)	V363L		Het
Mfsd13b	C	A	7: 120,598,134 (GRCm39)	H347N	possibly damaging	Het
Mllt1	G	T	17: 57,209,572 (GRCm39)	H179Q	probably benign	Het
Mmp14	A	T	14: 54,678,069 (GRCm39)	R563S	probably benign	Het
Ms4a18	T	C	19: 10,974,714 (GRCm39)	T326A	probably benign	Het
Muc16	T	C	9: 18,549,973 (GRCm39)	D5440G	probably benign	Het
Muc2	A	T	7: 141,300,559 (GRCm39)	E294V		Het
Myh7b	A	G	2: 155,459,641 (GRCm39)	N241S	probably damaging	Het
Myo1b	T	C	1: 51,796,404 (GRCm39)	I1007V	possibly damaging	Het
Or10j5	T	C	1: 172,784,893 (GRCm39)	F177S	probably damaging	Het
Or4a77	A	G	2: 89,487,005 (GRCm39)	V260A	possibly damaging	Het
Or8g33	T	A	9: 39,337,851 (GRCm39)	D172V	possibly damaging	Het
Pan2	T	C	10: 128,140,135 (GRCm39)	S19P	probably benign	Het
Pkn3	A	G	2: 29,976,723 (GRCm39)	D588G	probably null	Het
Pkp4	A	G	2: 59,178,104 (GRCm39)	N988D	possibly damaging	Het
Plxdc1	T	C	11: 97,824,844 (GRCm39)	D344G	probably damaging	Het
Plxna4	C	T	6: 32,192,169 (GRCm39)	R807H	possibly damaging	Het
Potefam3b	T	A	8: 21,174,962 (GRCm39)	F285I	possibly damaging	Het
Prdm15	A	T	16: 97,623,142 (GRCm39)	S237T	probably benign	Het
Sanbr	A	C	11: 23,531,642 (GRCm39)	M661R	possibly damaging	Het
Slc9a2	G	A	1: 40,721,061 (GRCm39)	V10M	probably benign	Het
Sytl2	T	C	7: 90,024,800 (GRCm39)	S263P	probably benign	Het
Taf7l2	A	T	10: 115,948,931 (GRCm39)	D198E	probably benign	Het
Trrap	G	A	5: 144,777,330 (GRCm39)	V3043M	probably damaging	Het
Tshz3	C	T	7: 36,470,492 (GRCm39)	T827I	possibly damaging	Het
Ttll1	T	C	15: 83,384,226 (GRCm39)	T134A	possibly damaging	Het
Vmn1r196	G	T	13: 22,477,920 (GRCm39)	M186I	probably damaging	Het
Vrk2	C	T	11: 26,433,157 (GRCm39)		probably null	Het
Zfp59	T	A	7: 27,554,483 (GRCm39)	V645E	probably benign	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
R3975:Ceacam16	UTSW	7	19,587,537 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CATCAGTGAGGTTCAGCTTTTG -3'
(R):5'- TCCTGGCATCTGAGAAAGAGAG -3'

Sequencing Primer
(F):5'- ACCTCCCGGCCTGTGTG -3'
(R):5'- GAGAGTCTATGTGATCACCCTAG -3'

Posted On

2022-08-09