Mutagenetix > Incidental Mutation

Incidental Mutation 'R3027:Cluap1'

265865

Institutional Source

Beutler Lab

Gene Symbol

Cluap1

Ensembl Gene

ENSMUSG00000014232

Gene Name

clusterin associated protein 1

Synonyms

2310030D15Rik, 2610111M03Rik

MMRRC Submission

040543-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3726665-3759011 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 3729396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 84 (C84*)

Ref Sequence

ENSEMBL: ENSMUSP00000121029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006139] [ENSMUST00000040881] [ENSMUST00000115859] [ENSMUST00000123235] [ENSMUST00000124849] [ENSMUST00000139294] [ENSMUST00000145150] [ENSMUST00000176233] [ENSMUST00000177323] [ENSMUST00000177221]

AlphaFold

Q8R3P7

Predicted Effect

probably benign
Transcript: ENSMUST00000006139

SMART Domains

Protein: ENSMUSP00000006139
Gene: ENSMUSG00000005983

Domain	Start	End	E-Value	Type
Pfam:DUF4644	16	139	7.3e-70	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000040881
AA Change: V35D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043397
Gene: ENSMUSG00000014232
AA Change: V35D

Domain	Start	End	E-Value	Type
Pfam:Cluap1	14	283	2.5e-121	PFAM
low complexity region	297	307	N/A	INTRINSIC
low complexity region	310	330	N/A	INTRINSIC
low complexity region	360	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115859

SMART Domains

Protein: ENSMUSP00000111525
Gene: ENSMUSG00000005983

Domain	Start	End	E-Value	Type
Pfam:DUF4644	2	162	4.7e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123235

SMART Domains

Protein: ENSMUSP00000135233
Gene: ENSMUSG00000005983

Domain	Start	End	E-Value	Type
Pfam:DUF4644	7	67	1.5e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000124849
AA Change: V24D

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

SMART Domains

Protein: ENSMUSP00000119490
Gene: ENSMUSG00000014232
AA Change: V24D

Domain	Start	End	E-Value	Type
Pfam:Cluap1	3	206	8.7e-93	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137745

Predicted Effect

probably null
Transcript: ENSMUST00000139294
AA Change: C84*

Predicted Effect

probably damaging
Transcript: ENSMUST00000145150
AA Change: V24D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116855
Gene: ENSMUSG00000014232
AA Change: V24D

Domain	Start	End	E-Value	Type
Pfam:Cluap1	3	188	9.9e-86	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146935

Predicted Effect

probably damaging
Transcript: ENSMUST00000176233
AA Change: V140D

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

SMART Domains

Protein: ENSMUSP00000135826
Gene: ENSMUSG00000093575
AA Change: V140D

Domain	Start	End	E-Value	Type
Pfam:Cluap1	119	282	2.8e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193513

Predicted Effect

probably benign
Transcript: ENSMUST00000177323

SMART Domains

Protein: ENSMUSP00000135766
Gene: ENSMUSG00000005983

Domain	Start	End	E-Value	Type
Pfam:DUF4644	6	166	1.5e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177221

SMART Domains

Protein: ENSMUSP00000134800
Gene: ENSMUSG00000005983

Domain	Start	End	E-Value	Type
Pfam:DUF4644	13	144	7.2e-75	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (33/33)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous mutant mice exhibit mid-gestation lethality, failure of embryonic turning, enlarged pericardial sacs, neural tube defects and lack primary cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,827,240 (GRCm39)	T993A	probably damaging	Het
Arhgap18	G	A	10: 26,722,092 (GRCm39)	G21D	probably benign	Het
Dnmt3a	T	A	12: 3,899,626 (GRCm39)		probably null	Het
Etaa1	T	C	11: 17,897,886 (GRCm39)	D146G	probably damaging	Het
Fam227a	T	C	15: 79,532,934 (GRCm39)		probably null	Het
Htt	T	A	5: 34,977,439 (GRCm39)	I775N	possibly damaging	Het
Itgax	C	A	7: 127,747,744 (GRCm39)	Y1053*	probably null	Het
Kif21a	T	A	15: 90,856,845 (GRCm39)	N583Y	probably damaging	Het
Lrp1b	T	A	2: 40,760,283 (GRCm39)	E2995V	probably benign	Het
Or1ad8	G	A	11: 50,897,879 (GRCm39)	V27M	possibly damaging	Het
Or5h22	C	T	16: 58,895,330 (GRCm39)	V38I	probably benign	Het
Or6aa1	T	C	7: 86,043,761 (GRCm39)	N315S	probably benign	Het
Or8k39	C	T	2: 86,563,930 (GRCm39)	V9M	possibly damaging	Het
Otos	A	T	1: 92,572,076 (GRCm39)	H83Q	probably damaging	Het
Pramel7	A	G	2: 87,321,747 (GRCm39)	M96T	probably benign	Het
Ptprz1	T	A	6: 23,016,196 (GRCm39)	S1680T	possibly damaging	Het
Rad50	A	G	11: 53,586,208 (GRCm39)	S263P	probably benign	Het
Resf1	T	C	6: 149,230,533 (GRCm39)	L1193P	probably benign	Het
Retreg2	A	G	1: 75,123,088 (GRCm39)	S339G	probably damaging	Het
Schip1	G	A	3: 68,401,943 (GRCm39)	A7T	probably damaging	Het
Shkbp1	A	C	7: 27,042,818 (GRCm39)	S540A	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Socs1	T	C	16: 10,602,578 (GRCm39)	D53G	possibly damaging	Het
Spag9	G	T	11: 93,977,203 (GRCm39)	R103L	probably null	Het
Spc24	AGAGGTAGTCACTGA	AGA	9: 21,667,511 (GRCm39)		probably null	Het
Spo11	T	C	2: 172,827,736 (GRCm39)	Y146H	probably damaging	Het
Tmem25	T	C	9: 44,709,511 (GRCm39)		probably null	Het
Ttyh1	A	G	7: 4,122,721 (GRCm39)	D23G	probably benign	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp513	A	G	5: 31,356,673 (GRCm39)	S540P	possibly damaging	Het
Zfp808	A	T	13: 62,319,404 (GRCm39)	H211L	probably benign	Het

Other mutations in Cluap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0304:Cluap1	UTSW	16	3,747,782 (GRCm39)	unclassified	probably benign
R0545:Cluap1	UTSW	16	3,751,636 (GRCm39)	missense	probably damaging	0.96
R1459:Cluap1	UTSW	16	3,755,453 (GRCm39)	missense	probably damaging	1.00
R1511:Cluap1	UTSW	16	3,737,422 (GRCm39)	missense	probably benign
R2136:Cluap1	UTSW	16	3,751,636 (GRCm39)	missense	probably damaging	0.96
R3926:Cluap1	UTSW	16	3,729,398 (GRCm39)	missense	probably damaging	0.99
R4386:Cluap1	UTSW	16	3,751,586 (GRCm39)	missense	possibly damaging	0.70
R4587:Cluap1	UTSW	16	3,751,680 (GRCm39)	critical splice donor site	probably null
R5587:Cluap1	UTSW	16	3,733,348 (GRCm39)	missense	probably damaging	1.00
R6010:Cluap1	UTSW	16	3,755,437 (GRCm39)	missense	possibly damaging	0.91
R6169:Cluap1	UTSW	16	3,746,425 (GRCm39)	missense	possibly damaging	0.50
R6181:Cluap1	UTSW	16	3,751,608 (GRCm39)	missense	probably benign
R6194:Cluap1	UTSW	16	3,747,770 (GRCm39)	missense	probably benign
R6492:Cluap1	UTSW	16	3,746,476 (GRCm39)	missense	probably benign	0.03
R7091:Cluap1	UTSW	16	3,758,670 (GRCm39)	missense	probably benign	0.01
R7131:Cluap1	UTSW	16	3,758,639 (GRCm39)	missense	probably benign	0.00
R7248:Cluap1	UTSW	16	3,737,364 (GRCm39)	missense	possibly damaging	0.76
R7421:Cluap1	UTSW	16	3,758,657 (GRCm39)	missense	probably damaging	0.99
R7719:Cluap1	UTSW	16	3,727,467 (GRCm39)	splice site	probably null
R7991:Cluap1	UTSW	16	3,746,485 (GRCm39)	missense	probably damaging	0.98
R8280:Cluap1	UTSW	16	3,729,017 (GRCm39)	unclassified	probably benign
R8459:Cluap1	UTSW	16	3,755,453 (GRCm39)	missense	probably damaging	1.00
R8790:Cluap1	UTSW	16	3,735,787 (GRCm39)	critical splice donor site	probably benign
R8964:Cluap1	UTSW	16	3,729,334 (GRCm39)	unclassified	probably benign
R9491:Cluap1	UTSW	16	3,758,732 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TACGCCCCATTTCTCCAAAG -3'
(R):5'- TGCGTGGCAGCTCTTTATAAG -3'

Sequencing Primer
(F):5'- ATGAATTCAGCACCTGGAGTTG -3'
(R):5'- CGTGGCAGCTCTTTATAAGTTACAGC -3'

Posted On

2015-02-05