Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03323:Cldn12'

416559

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cldn12

Ensembl Gene

ENSMUSG00000046798

Gene Name

claudin 12

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03323

Quality Score

Status

Chromosome

Chromosomal Location

5555015-5564976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 5558421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 2 (G2V)

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: G2V

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

SMART Domains

Protein: ENSMUSP00000061928
Gene: ENSMUSG00000046798
AA Change: G2V

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: G2V

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

SMART Domains

Protein: ENSMUSP00000111105
Gene: ENSMUSG00000046798
AA Change: G2V

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: G2V

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

SMART Domains

Protein: ENSMUSP00000111106
Gene: ENSMUSG00000046798
AA Change: G2V

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: ENSMUST00000125110
AA Change: G2V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134931

Predicted Effect

probably damaging
Transcript: ENSMUST00000179804
AA Change: G2V

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

SMART Domains

Protein: ENSMUSP00000136988
Gene: ENSMUSG00000046798
AA Change: G2V

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

Coding Region Coverage

Validation Efficiency

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	A	T	14: 103,292,730 (GRCm39)	D418V	probably damaging	Het
Ahdc1	G	A	4: 132,792,739 (GRCm39)	G1327S	probably benign	Het
Bcl2l15	A	T	3: 103,740,719 (GRCm39)	I62L	probably benign	Het
Ccdc7a	A	T	8: 129,785,244 (GRCm39)	D105E	probably benign	Het
Eapp	G	T	12: 54,720,400 (GRCm39)	H272N	probably damaging	Het
Fcrla	A	G	1: 170,755,114 (GRCm39)		probably benign	Het
Fmnl3	C	T	15: 99,219,162 (GRCm39)	G787S	probably damaging	Het
Fmo5	G	T	3: 97,546,323 (GRCm39)		probably null	Het
Golgb1	G	T	16: 36,733,815 (GRCm39)	E1021*	probably null	Het
Hspa4	A	T	11: 53,155,960 (GRCm39)	N648K	probably benign	Het
Iigp1	T	C	18: 60,522,896 (GRCm39)	F5L	probably benign	Het
Lad1	T	A	1: 135,758,712 (GRCm39)		probably null	Het
Man2b2	T	C	5: 36,975,858 (GRCm39)	D399G	probably benign	Het
Mc5r	C	T	18: 68,472,286 (GRCm39)	T215I	probably benign	Het
Mx2	A	G	16: 97,347,575 (GRCm39)	S156G	probably damaging	Het
Necap2	A	T	4: 140,795,533 (GRCm39)	I242N	possibly damaging	Het
Nme8	C	T	13: 19,873,120 (GRCm39)	E175K	probably benign	Het
Notch4	T	A	17: 34,801,445 (GRCm39)	C1098S	probably damaging	Het
Or1j16	T	A	2: 36,530,153 (GRCm39)	M34K	possibly damaging	Het
Or7a42	T	C	10: 78,791,434 (GRCm39)	Y132H	probably benign	Het
Osbpl9	A	G	4: 108,919,656 (GRCm39)		probably benign	Het
Prag1	T	C	8: 36,607,162 (GRCm39)	S968P	probably damaging	Het
Qsox2	A	G	2: 26,110,991 (GRCm39)	S125P	probably benign	Het
Rptn	A	G	3: 93,304,460 (GRCm39)	T598A	probably benign	Het
Slc2a2	G	A	3: 28,780,439 (GRCm39)	M375I	probably damaging	Het
Tmed9	C	T	13: 55,744,691 (GRCm39)	T173I	probably damaging	Het
Trank1	A	G	9: 111,181,184 (GRCm39)	D402G	probably damaging	Het
Ttc21a	G	T	9: 119,769,602 (GRCm39)		probably benign	Het
Vmn2r58	T	C	7: 41,511,295 (GRCm39)	M503V	probably benign	Het

Other mutations in Cldn12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4725: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

Posted On

2016-08-02