Mutagenetix > Incidental Mutation

Incidental Mutation 'R6961:Cldn12'

541748

Institutional Source

Beutler Lab

Gene Symbol

Cldn12

Ensembl Gene

ENSMUSG00000046798

Gene Name

claudin 12

Synonyms

MMRRC Submission

045071-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5555015-5564976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5557707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 240 (V240D)

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: V240D

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

SMART Domains

Protein: ENSMUSP00000061928
Gene: ENSMUSG00000046798
AA Change: V240D

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: V240D

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

SMART Domains

Protein: ENSMUSP00000111105
Gene: ENSMUSG00000046798
AA Change: V240D

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: V240D

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

SMART Domains

Protein: ENSMUSP00000111106
Gene: ENSMUSG00000046798
AA Change: V240D

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

probably damaging
Transcript: ENSMUST00000179804
AA Change: V240D

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

SMART Domains

Protein: ENSMUSP00000136988
Gene: ENSMUSG00000046798
AA Change: V240D

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

Meta Mutation Damage Score

0.1872

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.8%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,024,148 (GRCm39)	L168P	probably damaging	Het
Atp6v0d1	A	G	8: 106,255,849 (GRCm39)	L173P	probably damaging	Het
Baiap2l2	A	G	15: 79,168,835 (GRCm39)	F23L	probably damaging	Het
Cd200l1	T	A	16: 45,264,366 (GRCm39)	Y64F	probably benign	Het
Cdh23	G	C	10: 60,485,893 (GRCm39)	L41V	probably benign	Het
Cep120	C	A	18: 53,836,277 (GRCm39)	E803*	probably null	Het
Clcn7	C	T	17: 25,376,188 (GRCm39)	P560S	probably damaging	Het
Clec1a	C	T	6: 129,406,946 (GRCm39)	E190K	probably benign	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Crispld1	T	A	1: 17,832,365 (GRCm39)	H450Q	probably damaging	Het
Dsc2	A	T	18: 20,171,279 (GRCm39)	N573K	probably damaging	Het
Fam186a	T	A	15: 99,838,082 (GRCm39)	I2721F	probably benign	Het
Fbxl13	A	G	5: 21,748,740 (GRCm39)	F393S	probably damaging	Het
Fut1	A	T	7: 45,268,963 (GRCm39)	I306F	probably damaging	Het
Gas2l3	T	C	10: 89,249,153 (GRCm39)	D655G	probably benign	Het
Gm29106	A	T	1: 118,128,128 (GRCm39)	K607*	probably null	Het
Gm57858	T	A	3: 36,104,766 (GRCm39)	I32F	possibly damaging	Het
Hmg20a	T	C	9: 56,396,012 (GRCm39)	V268A	probably benign	Het
Il2rb	T	A	15: 78,370,024 (GRCm39)	Y205F	probably damaging	Het
Ints4	A	G	7: 97,190,397 (GRCm39)	*965W	probably null	Het
Itsn2	T	A	12: 4,723,420 (GRCm39)	C1118*	probably null	Het
Jakmip1	T	C	5: 37,330,697 (GRCm39)	L459P	probably damaging	Het
Klhl8	T	C	5: 104,018,435 (GRCm39)	T323A	possibly damaging	Het
Mindy3	C	A	2: 12,400,989 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,250,369 (GRCm39)	T79A	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Napa	C	T	7: 15,843,034 (GRCm39)	R53*	probably null	Het
Nudt21	A	C	8: 94,755,508 (GRCm39)	D133E	probably benign	Het
Or2y3	T	A	17: 38,393,096 (GRCm39)	I258F	probably damaging	Het
Or4c115	T	A	2: 88,928,149 (GRCm39)	M41L	probably benign	Het
Or52b1	A	T	7: 104,978,913 (GRCm39)	I162K	probably damaging	Het
Or52s19	A	G	7: 103,007,789 (GRCm39)	V204A	possibly damaging	Het
Or56a41	A	T	7: 104,741,978 (GRCm39)	M16K	probably benign	Het
Or6c7	T	C	10: 129,323,331 (GRCm39)	F151L	probably damaging	Het
Pate13	G	A	9: 35,819,740 (GRCm39)	M1I	probably null	Het
Pira13	T	C	7: 3,828,124 (GRCm39)	Y61C	probably damaging	Het
Pla2g4e	G	T	2: 120,004,851 (GRCm39)		probably null	Het
Ptbp1	T	C	10: 79,695,111 (GRCm39)		probably null	Het
Scfd2	A	C	5: 74,680,202 (GRCm39)	V317G	possibly damaging	Het
Slc45a1	T	C	4: 150,714,110 (GRCm39)	M712V	probably damaging	Het
Smg7	A	T	1: 152,717,334 (GRCm39)	L919*	probably null	Het
Sspo	T	A	6: 48,440,811 (GRCm39)	S1758T	probably benign	Het
Tgfb2	A	T	1: 186,382,032 (GRCm39)	M165K	possibly damaging	Het
Tie1	C	T	4: 118,343,402 (GRCm39)	V154M	probably damaging	Het
Timm17a	A	G	1: 135,238,816 (GRCm39)		probably benign	Het
Tlr5	C	T	1: 182,801,076 (GRCm39)	R127*	probably null	Het
Ttc29	A	C	8: 79,003,545 (GRCm39)	I254L	possibly damaging	Het
Unc79	T	C	12: 103,079,174 (GRCm39)	S1780P	probably damaging	Het
Vmn2r106	A	T	17: 20,488,646 (GRCm39)	Y584*	probably null	Het
Zbtb24	A	G	10: 41,331,171 (GRCm39)	E366G	probably damaging	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
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
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'- GAGGCTAGAGACCCTTCTAGTC -3'
(R):5'- GTCACTATTGCTAGCTCAGGGG -3'

Sequencing Primer
(F):5'- GACCCTTCTAGTCTCAGAAGC -3'
(R):5'- CTAGCTCAGGGGGTCTGTTTATGAC -3'

Posted On

2018-11-28