Mutagenetix > Incidental Mutation

Incidental Mutation 'R6181:Cluap1'

488109

Institutional Source

Beutler Lab

Gene Symbol

Cluap1

Ensembl Gene

ENSMUSG00000014232

Gene Name

clusterin associated protein 1

Synonyms

2310030D15Rik, 2610111M03Rik

MMRRC Submission

044323-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6181 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3726665-3759011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3751608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 322 (D322E)

Ref Sequence

ENSEMBL: ENSMUSP00000043397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040881] [ENSMUST00000139294]

AlphaFold

Q8R3P7

Predicted Effect

probably benign
Transcript: ENSMUST00000040881
AA Change: D322E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043397
Gene: ENSMUSG00000014232
AA Change: D322E

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

noncoding transcript
Transcript: ENSMUST00000126677

Predicted Effect

probably benign
Transcript: ENSMUST00000139294

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b7	A	G	6: 34,392,313 (GRCm39)	H42R	possibly damaging	Het
Ankrd26	T	A	6: 118,525,838 (GRCm39)	H369L	probably benign	Het
Ano7	T	C	1: 93,323,081 (GRCm39)	S474P	probably damaging	Het
Aox3	T	C	1: 58,198,105 (GRCm39)	V639A	probably benign	Het
Arhgef2	T	A	3: 88,542,927 (GRCm39)	V358E	probably damaging	Het
Brpf3	A	G	17: 29,029,555 (GRCm39)	Y505C	probably damaging	Het
Casd1	A	G	6: 4,619,331 (GRCm39)	T120A	probably damaging	Het
Ccdc121	A	G	5: 31,645,399 (GRCm39)	E384G	probably damaging	Het
Cd200l1	A	G	16: 45,238,260 (GRCm39)	S185P	probably benign	Het
Clasp1	T	G	1: 118,347,547 (GRCm39)	S32A	probably benign	Het
Clca3a2	A	T	3: 144,796,469 (GRCm39)	L246*	probably null	Het
Clcn7	A	G	17: 25,370,702 (GRCm39)	I353V	possibly damaging	Het
Cmtm4	A	C	8: 105,082,997 (GRCm39)		probably null	Het
Cntnap2	C	T	6: 46,736,742 (GRCm39)	P723S	probably damaging	Het
Col6a3	T	A	1: 90,744,096 (GRCm39)	T84S	possibly damaging	Het
Corin	A	G	5: 72,529,439 (GRCm39)		probably null	Het
Cubn	G	A	2: 13,354,687 (GRCm39)	T1903I	probably benign	Het
Cyp27b1	A	C	10: 126,886,279 (GRCm39)	D320A	probably damaging	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Dennd2a	T	C	6: 39,462,554 (GRCm39)	K652R	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock1	T	A	7: 134,760,251 (GRCm39)	M1638K	probably damaging	Het
Efcab3	T	C	11: 104,722,159 (GRCm39)	S1924P	probably benign	Het
Eya1	T	C	1: 14,373,096 (GRCm39)	S8G	probably damaging	Het
Fam193a	T	A	5: 34,600,884 (GRCm39)		probably null	Het
Fbxw11	T	A	11: 32,692,575 (GRCm39)	N515K	probably benign	Het
Gm6408	T	C	5: 146,420,582 (GRCm39)	V154A	possibly damaging	Het
Guf1	A	G	5: 69,719,059 (GRCm39)	Y235C	probably damaging	Het
Hnrnpul2	C	T	19: 8,800,596 (GRCm39)	S224L	possibly damaging	Het
Igkv8-19	T	A	6: 70,317,968 (GRCm39)	D86V	probably damaging	Het
Iqcf1	A	T	9: 106,379,174 (GRCm39)	D61V	probably damaging	Het
Lrp5	T	C	19: 3,678,427 (GRCm39)	D476G	probably damaging	Het
Luzp1	A	G	4: 136,270,578 (GRCm39)	T934A	probably benign	Het
Mboat7	A	T	7: 3,686,884 (GRCm39)	Y319N	probably benign	Het
Mdn1	A	G	4: 32,715,953 (GRCm39)	E2045G	probably damaging	Het
Mfsd14b	T	C	13: 65,260,398 (GRCm39)	R12G	probably benign	Het
Micall2	T	A	5: 139,702,506 (GRCm39)	T246S	probably benign	Het
Npepps	A	G	11: 97,132,830 (GRCm39)	V299A	probably damaging	Het
Or2y11	T	A	11: 49,443,120 (GRCm39)	V182D	probably damaging	Het
P2ry13	A	G	3: 59,117,328 (GRCm39)	V150A	probably benign	Het
Pdc	T	C	1: 150,209,021 (GRCm39)	I168T	probably damaging	Het
Pde8b	C	T	13: 95,223,316 (GRCm39)	E313K	probably benign	Het
Pgap1	C	T	1: 54,551,936 (GRCm39)	G499R	probably benign	Het
Ppp1r15b	T	A	1: 133,060,261 (GRCm39)	C259*	probably null	Het
Pramel21	T	A	4: 143,342,828 (GRCm39)		probably null	Het
Ptgs1	A	G	2: 36,141,131 (GRCm39)	E526G	probably damaging	Het
Ptpn21	A	G	12: 98,666,258 (GRCm39)	L271P	probably damaging	Het
Rbm47	T	C	5: 66,183,833 (GRCm39)	T257A	possibly damaging	Het
Rfc3	C	T	5: 151,570,985 (GRCm39)	D104N	probably damaging	Het
Rhobtb3	A	G	13: 76,058,808 (GRCm39)	I330T	probably benign	Het
Rnf207	T	C	4: 152,393,305 (GRCm39)	T570A	probably benign	Het
Rusf1	A	G	7: 127,896,632 (GRCm39)		probably null	Het
Sbpl	T	C	17: 24,172,466 (GRCm39)	H151R	probably damaging	Het
Sstr3	T	C	15: 78,423,661 (GRCm39)	D362G	probably benign	Het
St7	T	C	6: 17,694,363 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,194,235 (GRCm39)	M1145K	probably benign	Het
Tdrd6	A	G	17: 43,939,788 (GRCm39)	V420A	probably damaging	Het
Tet2	C	A	3: 133,193,520 (GRCm39)	E305*	probably null	Het
Tmem209	A	T	6: 30,505,970 (GRCm39)	V68E	probably damaging	Het
Tmod4	A	T	3: 95,035,118 (GRCm39)	I208F	probably damaging	Het
Tpo	G	A	12: 30,181,884 (GRCm39)	L4F	probably benign	Het
Urb1	T	C	16: 90,575,982 (GRCm39)	H858R	probably benign	Het
Utrn	A	G	10: 12,615,200 (GRCm39)	W324R	probably damaging	Het
V1rd19	T	A	7: 23,702,640 (GRCm39)	F35L	possibly damaging	Het
Vmn1r170	C	A	7: 23,305,692 (GRCm39)	N31K	probably damaging	Het
Vmn1r192	T	A	13: 22,371,452 (GRCm39)	Y256F	probably damaging	Het
Vmn2r124	T	C	17: 18,294,019 (GRCm39)	I702T	possibly damaging	Het
Vmn2r96	G	A	17: 18,804,126 (GRCm39)	A459T	probably benign	Het
Vwf	G	T	6: 125,543,109 (GRCm39)	A132S	probably damaging	Het
Zfp202	G	A	9: 40,118,638 (GRCm39)	G17E	probably damaging	Het
Zfp608	A	G	18: 55,028,700 (GRCm39)	S1238P	possibly damaging	Het
Zfp804a	G	T	2: 82,087,486 (GRCm39)	M438I	probably damaging	Het
Zgrf1	G	A	3: 127,381,590 (GRCm39)	G246S	probably damaging	Het
Zwint	T	C	10: 72,492,431 (GRCm39)	V115A	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
R3027:Cluap1	UTSW	16	3,729,396 (GRCm39)	nonsense	probably null
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
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'- CCTGTGAATAAATCCAGGGAGTC -3'
(R):5'- CAGATTGGGACAGGAAGTGTTTC -3'

Sequencing Primer
(F):5'- CCAGGGAGTCTCATAAAATCTAATGG -3'
(R):5'- GAAGTGTTTCCAGGGACCCTTC -3'

Posted On

2017-10-10