Mutagenetix > Incidental Mutation

Incidental Mutation 'R4728:Cldn12'

358595

Institutional Source

Beutler Lab

Gene Symbol

Cldn12

Ensembl Gene

ENSMUSG00000046798

Gene Name

claudin 12

Synonyms

MMRRC Submission

042020-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4728 (G1)

Quality Score

126

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: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

94% (73/78)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bicc1	C	T	10: 70,771,661 (GRCm39)		probably null	Het
Bpifc	T	A	10: 85,827,063 (GRCm39)	H162L	possibly damaging	Het
Ccdc163	C	T	4: 116,566,209 (GRCm39)		probably benign	Het
Cyth4	G	A	15: 78,486,913 (GRCm39)	G14R	probably benign	Het
Ddhd2	C	T	8: 26,242,294 (GRCm39)	V194I	probably damaging	Het
Ddx23	A	T	15: 98,548,106 (GRCm39)	V433E	probably damaging	Het
Defb34	A	G	8: 19,176,434 (GRCm39)	N42D	possibly damaging	Het
Dennd6a	A	G	14: 26,348,575 (GRCm39)	E313G	probably null	Het
Dhx30	A	G	9: 109,916,718 (GRCm39)	F570S	probably damaging	Het
Dnah3	T	C	7: 119,658,589 (GRCm39)	E864G	probably damaging	Het
Eps8	G	A	6: 137,486,160 (GRCm39)	Q451*	probably null	Het
Fmo9	A	T	1: 166,490,880 (GRCm39)	Y533N	possibly damaging	Het
Fut8	T	A	12: 77,521,973 (GRCm39)	D537E	probably damaging	Het
Gm5407	T	C	16: 49,117,283 (GRCm39)		noncoding transcript	Het
Gm9916	A	G	3: 118,228,690 (GRCm39)		noncoding transcript	Het
Grm5	T	A	7: 87,624,496 (GRCm39)	F354L	probably damaging	Het
Hira	C	T	16: 18,741,654 (GRCm39)	A353V	probably damaging	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Igf1r	T	C	7: 67,839,372 (GRCm39)	L628P	probably damaging	Het
Kcnh5	A	T	12: 75,054,555 (GRCm39)	I463N	probably damaging	Het
Kcnh8	C	A	17: 53,032,898 (GRCm39)	Q62K	probably damaging	Het
Kif3c	A	T	12: 3,415,873 (GRCm39)		probably benign	Het
Kmo	A	G	1: 175,484,329 (GRCm39)	D353G	possibly damaging	Het
Lrp1	T	C	10: 127,399,606 (GRCm39)	T2301A	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Map3k9	C	T	12: 81,769,147 (GRCm39)	R967Q	probably damaging	Het
Mcm8	A	G	2: 132,674,774 (GRCm39)	H414R	probably damaging	Het
Mier1	A	G	4: 102,997,402 (GRCm39)	E145G	probably damaging	Het
Mlc1	A	T	15: 88,862,234 (GRCm39)		probably null	Het
Napb	T	C	2: 148,551,245 (GRCm39)	D96G	probably damaging	Het
Nbas	T	A	12: 13,338,740 (GRCm39)	S193R	probably damaging	Het
Nlrp4a	T	C	7: 26,174,515 (GRCm39)	V967A	probably benign	Het
Nlrp4e	T	A	7: 23,020,989 (GRCm39)	I492K	probably benign	Het
Notch4	A	G	17: 34,789,179 (GRCm39)	T497A	probably benign	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Ogdh	T	A	11: 6,292,549 (GRCm39)	Y417N	probably damaging	Het
Or5w19	T	C	2: 87,698,779 (GRCm39)	V148A	probably benign	Het
Ovol1	A	T	19: 5,603,690 (GRCm39)	Y70*	probably null	Het
P2ry1	A	G	3: 60,911,641 (GRCm39)	Y260C	probably damaging	Het
Pcx	G	T	19: 4,653,124 (GRCm39)	R263L	probably damaging	Het
Pla2g4f	T	A	2: 120,131,402 (GRCm39)	T774S	probably benign	Het
Prdm15	T	G	16: 97,622,986 (GRCm39)	K289Q	probably benign	Het
Prl7c1	A	T	13: 27,960,268 (GRCm39)	H91Q	probably benign	Het
Prmt5	C	T	14: 54,745,364 (GRCm39)	R601H	probably benign	Het
Prrc2b	T	A	2: 32,120,637 (GRCm39)	D2192E	probably damaging	Het
Ptdss2	A	G	7: 140,734,372 (GRCm39)	I299V	probably benign	Het
Rbm28	A	G	6: 29,143,591 (GRCm39)	V354A	probably damaging	Het
Rps6kb1	G	C	11: 86,435,484 (GRCm39)		probably null	Het
Sema3f	A	G	9: 107,582,639 (GRCm39)	S35P	probably benign	Het
Serpina3n	A	T	12: 104,375,422 (GRCm39)	T165S	probably benign	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sh2d4b	T	A	14: 40,564,389 (GRCm39)	R267*	probably null	Het
Slc5a12	A	T	2: 110,474,769 (GRCm39)	K554*	probably null	Het
Snrnp200	T	C	2: 127,059,334 (GRCm39)	L409P	probably damaging	Het
Snrnp200	T	A	2: 127,069,798 (GRCm39)	V981E	possibly damaging	Het
Spon2	T	A	5: 33,374,682 (GRCm39)	R41S	probably benign	Het
Sptb	A	T	12: 76,630,153 (GRCm39)	M2279K	probably benign	Het
Srcap	T	G	7: 127,140,096 (GRCm39)		probably null	Het
Tctn3	A	G	19: 40,594,186 (GRCm39)	V409A	probably damaging	Het
Tg	A	C	15: 66,554,676 (GRCm39)	Q697P	probably damaging	Het
Tmem181a	A	G	17: 6,340,874 (GRCm39)	D141G	probably benign	Het
Tmem82	A	G	4: 141,341,963 (GRCm39)	S334P	probably benign	Het
Ubr4	A	G	4: 139,151,190 (GRCm39)	Y1875C	probably damaging	Het
Vmn1r63	C	A	7: 5,806,362 (GRCm39)	R90L	probably damaging	Het
Zfp330	A	C	8: 83,497,475 (GRCm39)	Y56D	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
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'- GTGCACTTGATCTGGGACATATG -3'

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

Posted On

2015-11-11