Mutagenetix > Incidental Mutation

Incidental Mutation 'R4725:Cldn12'

358394

Institutional Source

Beutler Lab

Gene Symbol

Cldn12

Ensembl Gene

ENSMUSG00000046798

Gene Name

claudin 12

Synonyms

MMRRC Submission

041960-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4725 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5555015-5564976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5558385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 14 (F14S)

Ref Sequence

ENSEMBL: ENSMUSP00000136988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060947] [ENSMUST00000115445] [ENSMUST00000115446] [ENSMUST00000125110] [ENSMUST00000179804]

AlphaFold

Q9ET43

Predicted Effect

probably damaging
Transcript: ENSMUST00000060947
AA Change: F14S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061928
Gene: ENSMUSG00000046798
AA Change: F14S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	85	107	N/A	INTRINSIC
transmembrane domain	134	156	N/A	INTRINSIC
transmembrane domain	176	198	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115445
AA Change: F14S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111105
Gene: ENSMUSG00000046798
AA Change: F14S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	85	107	N/A	INTRINSIC
transmembrane domain	134	156	N/A	INTRINSIC
transmembrane domain	176	198	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115446
AA Change: F14S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111106
Gene: ENSMUSG00000046798
AA Change: F14S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	85	107	N/A	INTRINSIC
transmembrane domain	134	156	N/A	INTRINSIC
transmembrane domain	176	198	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125110

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134931

Predicted Effect

probably damaging
Transcript: ENSMUST00000179804
AA Change: F14S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136988
Gene: ENSMUSG00000046798
AA Change: F14S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	85	107	N/A	INTRINSIC
transmembrane domain	134	156	N/A	INTRINSIC
transmembrane domain	176	198	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198303

Meta Mutation Damage Score

0.7002

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (64/67)

MGI Phenotype

FUNCTION: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene, along with several other family members, is expressed in the inner ear. The protein encoded by this gene and another family member, claudin 2, are critical for vitamin D-dependent Ca2+ absorption between enterocytes. Multiple alternatively spliced transcript variants encoding the same protein have been found. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	C	9: 120,406,769 (GRCm39)		probably benign	Het
Adamts20	T	C	15: 94,249,643 (GRCm39)	E458G	probably damaging	Het
Adgrl3	T	C	5: 81,914,052 (GRCm39)	I1220T	possibly damaging	Het
Aldh1a1	T	A	19: 20,617,445 (GRCm39)	M459K	probably benign	Het
Bmal1	C	A	7: 112,903,566 (GRCm39)	P454Q	possibly damaging	Het
Camta1	A	G	4: 151,232,953 (GRCm39)	V240A	probably benign	Het
Ccdc88b	C	T	19: 6,834,481 (GRCm39)	G149R	probably damaging	Het
Ceacam5	T	C	7: 17,494,602 (GRCm39)	V870A	probably benign	Het
Cep192	A	C	18: 67,949,837 (GRCm39)	Q307P	probably benign	Het
Cep63	T	C	9: 102,467,755 (GRCm39)		probably benign	Het
Ctdsp1	G	A	1: 74,433,823 (GRCm39)	V135I	possibly damaging	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dchs1	T	C	7: 105,404,460 (GRCm39)	D2694G	probably damaging	Het
Dchs1	C	G	7: 105,414,759 (GRCm39)	G761A	probably damaging	Het
Dennd5b	A	G	6: 148,946,277 (GRCm39)	Y445H	probably damaging	Het
Dock1	T	A	7: 134,346,743 (GRCm39)	L225*	probably null	Het
Drd3	G	T	16: 43,643,164 (GRCm39)	E467*	probably null	Het
Dysf	A	T	6: 84,074,738 (GRCm39)	N527I	probably damaging	Het
Erbb2	A	G	11: 98,315,970 (GRCm39)	T358A	possibly damaging	Het
Fhad1	A	T	4: 141,655,689 (GRCm39)		probably null	Het
Ganc	T	C	2: 120,265,754 (GRCm39)	I434T	probably damaging	Het
Gm5830	T	A	1: 78,945,549 (GRCm39)		noncoding transcript	Het
Gm6096	G	T	7: 33,950,484 (GRCm39)	E8*	probably null	Het
Gne	A	G	4: 44,066,806 (GRCm39)	F63S	probably benign	Het
Gpat2	T	C	2: 127,273,902 (GRCm39)	V315A	possibly damaging	Het
Gpr33	A	G	12: 52,070,892 (GRCm39)	L49P	probably damaging	Het
Heatr1	C	T	13: 12,439,543 (GRCm39)	Q1374*	probably null	Het
Hivep1	A	G	13: 42,316,887 (GRCm39)	I2032V	probably benign	Het
Igkv2-112	A	C	6: 68,197,450 (GRCm39)	I40L	probably benign	Het
Kcnab3	A	G	11: 69,221,294 (GRCm39)	N204D	probably benign	Het
Kcnj10	T	A	1: 172,196,726 (GRCm39)	F80Y	probably damaging	Het
Lcmt2	C	G	2: 120,969,911 (GRCm39)	V171L	probably benign	Het
Loxhd1	T	A	18: 77,483,153 (GRCm39)	Y1245N	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Mast1	A	G	8: 85,655,635 (GRCm39)	S170P	possibly damaging	Het
Mroh4	A	G	15: 74,487,956 (GRCm39)	L322P	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nudcd3	A	T	11: 6,143,475 (GRCm39)	V1D	probably damaging	Het
Pah	T	A	10: 87,390,238 (GRCm39)	L25Q	probably damaging	Het
Pik3cg	A	T	12: 32,243,596 (GRCm39)		probably null	Het
Pira13	A	C	7: 3,824,547 (GRCm39)	S611A	probably benign	Het
Plekha6	C	A	1: 133,211,058 (GRCm39)	S625Y	probably damaging	Het
Rtn4	T	A	11: 29,658,362 (GRCm39)	S839T	probably damaging	Het
Rusc1	A	G	3: 88,998,736 (GRCm39)	S349P	possibly damaging	Het
Samsn1	A	T	16: 75,742,217 (GRCm39)		noncoding transcript	Het
Scimp	A	G	11: 70,691,539 (GRCm39)	V30A	probably damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sgip1	A	G	4: 102,823,419 (GRCm39)	D680G	probably damaging	Het
Slc44a2	G	A	9: 21,259,691 (GRCm39)	V613M	probably damaging	Het
Smpdl3b	T	C	4: 132,472,489 (GRCm39)	T95A	probably damaging	Het
Spag6l	A	T	16: 16,610,395 (GRCm39)	L85H	probably damaging	Het
Sucla2	T	A	14: 73,806,429 (GRCm39)	Y167N	possibly damaging	Het
Svop	G	T	5: 114,203,546 (GRCm39)		probably benign	Het
Tnxb	A	T	17: 34,918,041 (GRCm39)	D2318V	probably damaging	Het
Trbv14	A	G	6: 41,112,332 (GRCm39)	D43G	probably benign	Het
Ubn2	A	G	6: 38,499,240 (GRCm39)		probably benign	Het
Ufsp1	T	C	5: 137,293,569 (GRCm39)	I173T	probably damaging	Het
Zbtb40	A	G	4: 136,746,072 (GRCm39)		probably benign	Het

Other mutations in Cldn12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03323:Cldn12	APN	5	5,558,421 (GRCm39)	missense	probably damaging	1.00
lame	UTSW	5	5,558,385 (GRCm39)	missense	probably damaging	1.00
R1499:Cldn12	UTSW	5	5,557,900 (GRCm39)	missense	probably benign	0.28
R1971:Cldn12	UTSW	5	5,558,137 (GRCm39)	missense	probably benign	0.16
R2350:Cldn12	UTSW	5	5,557,845 (GRCm39)	missense	possibly damaging	0.55
R4450:Cldn12	UTSW	5	5,558,398 (GRCm39)	missense	probably damaging	0.99
R4665:Cldn12	UTSW	5	5,558,385 (GRCm39)	missense	probably damaging	1.00
R4724:Cldn12	UTSW	5	5,558,385 (GRCm39)	missense	probably damaging	1.00
R4728:Cldn12	UTSW	5	5,558,385 (GRCm39)	missense	probably damaging	1.00
R6961:Cldn12	UTSW	5	5,557,707 (GRCm39)	missense	probably damaging	1.00
R7485:Cldn12	UTSW	5	5,558,008 (GRCm39)	missense	probably benign	0.06
R7857:Cldn12	UTSW	5	5,558,209 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGTACATCAGGCAGTCACTG -3'
(R):5'- GCACTTGATCTGGGACATATGTG -3'

Sequencing Primer
(F):5'- ACTGCTTCCATCATACCGGG -3'
(R):5'- GCTAGGATTGCACTAGCTAGCTC -3'

Posted On

2015-11-11