Mutagenetix > Incidental Mutation

Incidental Mutation 'R1745:Crnn'

193909

Institutional Source

Beutler Lab

Gene Symbol

Crnn

Ensembl Gene

ENSMUSG00000078657

Gene Name

cornulin

Synonyms

LOC381457

MMRRC Submission

039777-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R1745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93052096-93057125 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93054198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 27 (V27A)

Ref Sequence

ENSEMBL: ENSMUSP00000141980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107300] [ENSMUST00000195515]

AlphaFold

D3YUU6

Predicted Effect

probably benign
Transcript: ENSMUST00000107300
AA Change: V27A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102921
Gene: ENSMUSG00000078657
AA Change: V27A

Domain	Start	End	E-Value	Type
Pfam:S_100	4	45	1.9e-12	PFAM
Blast:EFh	53	81	1e-10	BLAST
low complexity region	181	192	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192372

Predicted Effect

probably benign
Transcript: ENSMUST00000195515
AA Change: V27A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000141980
Gene: ENSMUSG00000078657
AA Change: V27A

Domain	Start	End	E-Value	Type
Pfam:S_100	4	47	1.2e-10	PFAM
Blast:EFh	53	81	1e-10	BLAST
low complexity region	181	192	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the "fused gene" family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation. [provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,623,359 (GRCm39)	V851E	probably benign	Het
Adam28	A	G	14: 68,870,620 (GRCm39)	I351T	probably benign	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Ap2a1	T	C	7: 44,556,369 (GRCm39)	E285G	probably damaging	Het
Arfgef1	A	C	1: 10,243,480 (GRCm39)	I1023R	probably damaging	Het
Atp2c2	G	A	8: 120,451,833 (GRCm39)	V133I	probably benign	Het
Bpifb6	A	G	2: 153,753,403 (GRCm39)	T401A	possibly damaging	Het
Capn3	G	A	2: 120,320,170 (GRCm39)	V283M	possibly damaging	Het
Chd6	A	T	2: 160,823,587 (GRCm39)	V1261E	probably damaging	Het
Col22a1	C	T	15: 71,878,636 (GRCm39)	A174T	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dgkd	T	C	1: 87,859,766 (GRCm39)		probably null	Het
Diaph3	A	G	14: 87,203,996 (GRCm39)	L554P	probably damaging	Het
Ephb4	A	T	5: 137,358,696 (GRCm39)	H293L	probably benign	Het
Erbin	G	T	13: 103,975,957 (GRCm39)	H646N	probably damaging	Het
Faiml	T	C	9: 99,116,511 (GRCm39)	N60D	probably benign	Het
Fem1al	A	G	11: 29,774,723 (GRCm39)	S245P	probably benign	Het
Flot1	A	G	17: 36,135,552 (GRCm39)	E102G	probably damaging	Het
Fryl	G	A	5: 73,190,204 (GRCm39)		probably benign	Het
Gad1-ps	A	T	10: 99,281,386 (GRCm39)		noncoding transcript	Het
Gtf3c3	A	G	1: 54,473,371 (GRCm39)	S81P	probably damaging	Het
Hs1bp3	C	T	12: 8,371,690 (GRCm39)	Q91*	probably null	Het
Igf1r	T	C	7: 67,819,661 (GRCm39)	C324R	probably damaging	Het
Il23r	G	A	6: 67,443,275 (GRCm39)	T276I	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Kctd1	A	T	18: 15,196,263 (GRCm39)		probably benign	Het
Kmt2b	A	T	7: 30,285,275 (GRCm39)	M539K	possibly damaging	Het
Man2b1	T	A	8: 85,820,563 (GRCm39)	F617I	probably damaging	Het
Med15	G	A	16: 17,473,570 (GRCm39)		probably benign	Het
Myo9b	A	G	8: 71,806,691 (GRCm39)	K1543R	probably damaging	Het
N4bp2	A	G	5: 65,948,165 (GRCm39)	Y265C	probably benign	Het
N4bp2l2	A	T	5: 150,585,424 (GRCm39)	N185K	probably benign	Het
Nkx2-1	A	G	12: 56,580,529 (GRCm39)	M137T	probably benign	Het
Or51q1c	A	G	7: 103,653,270 (GRCm39)	T269A	probably benign	Het
Prickle2	A	T	6: 92,353,574 (GRCm39)	Y631N	probably damaging	Het
Ptpro	A	G	6: 137,377,643 (GRCm39)	T698A	probably benign	Het
Rapgef3	T	C	15: 97,648,059 (GRCm39)	I690V	probably benign	Het
Rnf44	G	A	13: 54,830,005 (GRCm39)	R271W	probably damaging	Het
Rundc3a	GAGCC	GAGCCAGCC	11: 102,291,739 (GRCm39)		probably null	Het
Ryr2	A	G	13: 11,805,153 (GRCm39)	Y904H	probably damaging	Het
Suz12	T	C	11: 79,912,922 (GRCm39)	L322P	probably damaging	Het
Tnfsf13	G	A	11: 69,575,973 (GRCm39)	A38V	probably benign	Het
Topbp1	G	A	9: 103,186,044 (GRCm39)	R62H	probably benign	Het
Tor1aip1	G	T	1: 155,906,180 (GRCm39)		probably null	Het
Trpv4	A	T	5: 114,771,215 (GRCm39)	V438E	probably damaging	Het
Tsku	A	T	7: 98,001,386 (GRCm39)	V315E	possibly damaging	Het
Ttc38	T	C	15: 85,717,373 (GRCm39)	L16P	probably damaging	Het
Vmn1r170	A	G	7: 23,305,759 (GRCm39)	I54V	probably damaging	Het
Vmn1r71	T	C	7: 10,482,196 (GRCm39)	D98G	probably benign	Het
Wdfy3	A	T	5: 102,096,795 (GRCm39)	D334E	probably damaging	Het
Zfhx3	T	A	8: 109,682,494 (GRCm39)	F3311Y	unknown	Het
Zswim9	A	G	7: 13,003,482 (GRCm39)	S123P	probably damaging	Het

Other mutations in Crnn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01320:Crnn	APN	3	93,055,519 (GRCm39)	missense	probably damaging	1.00
IGL01343:Crnn	APN	3	93,055,633 (GRCm39)	missense	probably benign	0.01
IGL02393:Crnn	APN	3	93,056,675 (GRCm39)	missense	probably damaging	0.99
IGL03220:Crnn	APN	3	93,056,674 (GRCm39)	missense	possibly damaging	0.49
IGL03275:Crnn	APN	3	93,056,725 (GRCm39)	missense	possibly damaging	0.57
R1698:Crnn	UTSW	3	93,055,765 (GRCm39)	missense	probably damaging	0.97
R1761:Crnn	UTSW	3	93,055,958 (GRCm39)	missense	probably benign
R1974:Crnn	UTSW	3	93,056,594 (GRCm39)	missense	probably benign	0.01
R2109:Crnn	UTSW	3	93,055,747 (GRCm39)	missense	probably benign	0.43
R4179:Crnn	UTSW	3	93,054,120 (GRCm39)	start codon destroyed	probably null	1.00
R4976:Crnn	UTSW	3	93,055,990 (GRCm39)	missense	probably benign	0.12
R5120:Crnn	UTSW	3	93,056,203 (GRCm39)	missense	probably benign	0.03
R5425:Crnn	UTSW	3	93,056,456 (GRCm39)	missense	probably benign
R5695:Crnn	UTSW	3	93,056,330 (GRCm39)	missense	probably damaging	0.98
R6596:Crnn	UTSW	3	93,054,182 (GRCm39)	missense	probably damaging	1.00
R6981:Crnn	UTSW	3	93,055,442 (GRCm39)	missense	probably damaging	1.00
R7145:Crnn	UTSW	3	93,055,689 (GRCm39)	missense	probably damaging	1.00
R7170:Crnn	UTSW	3	93,056,020 (GRCm39)	missense	possibly damaging	0.85
R7365:Crnn	UTSW	3	93,055,841 (GRCm39)	missense	probably damaging	0.97
R7375:Crnn	UTSW	3	93,056,452 (GRCm39)	missense	possibly damaging	0.87
R7511:Crnn	UTSW	3	93,056,723 (GRCm39)	missense	probably damaging	1.00
R8669:Crnn	UTSW	3	93,056,296 (GRCm39)	nonsense	probably null
R8868:Crnn	UTSW	3	93,055,609 (GRCm39)	missense	probably benign	0.00
R9206:Crnn	UTSW	3	93,054,251 (GRCm39)	missense	possibly damaging	0.58
Z1177:Crnn	UTSW	3	93,056,603 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACTGAGCCTTGAAGTACTGTGTG -3'
(R):5'- GCTGCCCTTTCTATAAGGAGCTGG -3'

Sequencing Primer
(F):5'- CCTTGAAGTACTGTGTGGAAAC -3'
(R):5'- CTATAAGGAGCTGGATCTGTCACC -3'

Posted On

2014-05-23