Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Cluap1'

550234

Institutional Source

Beutler Lab

Gene Symbol

Cluap1

Ensembl Gene

ENSMUSG00000014232

Gene Name

clusterin associated protein 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3908801-3941147 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3940806 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 377 (D377E)

Ref Sequence

ENSEMBL: ENSMUSP00000043397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040881] [ENSMUST00000177551] [ENSMUST00000180200]

AlphaFold

Q8R3P7

Predicted Effect

probably benign
Transcript: ENSMUST00000040881
AA Change: D377E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000043397
Gene: ENSMUSG00000014232
AA Change: D377E

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: ENSMUST00000177551

SMART Domains

Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871

Domain	Start	End	E-Value	Type
Pfam:NACHT	176	342	2e-34	PFAM
LRR	702	729	3.11e-2	SMART
LRR	730	757	2.27e-4	SMART
LRR	758	785	8.15e-1	SMART
LRR	786	813	2.17e-1	SMART
LRR	814	841	2.12e-4	SMART
LRR	842	869	3.42e0	SMART
LRR	870	897	7.67e-2	SMART
LRR	898	925	3.21e0	SMART
LRR	926	953	1.67e0	SMART
LRR	954	981	4.87e-4	SMART
LRR	982	1009	4.3e0	SMART
LRR	1010	1037	3.8e-6	SMART
LRR	1038	1065	4.47e-3	SMART
LRR	1066	1093	1.08e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180200

SMART Domains

Protein: ENSMUSP00000137325
Gene: ENSMUSG00000049871

Domain	Start	End	E-Value	Type
LRR	4	24	8.65e1	SMART
LRR	25	52	2.27e-4	SMART
LRR	53	80	8.15e-1	SMART
LRR	81	108	2.17e-1	SMART
LRR	109	136	2.12e-4	SMART
LRR	137	164	3.42e0	SMART
LRR	165	192	7.67e-2	SMART
LRR	193	220	3.21e0	SMART
LRR	221	248	1.67e0	SMART
LRR	249	276	4.87e-4	SMART
LRR	277	304	4.3e0	SMART
LRR	305	332	3.8e-6	SMART
LRR	333	360	4.47e-3	SMART
LRR	361	388	1.08e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (56/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	C	A	7: 127,384,362	A523S	possibly damaging	Het
Abhd18	A	C	3: 40,916,738	I111L	probably damaging	Het
Ank1	A	G	8: 23,058,663	D11G	probably benign	Het
Ank2	G	T	3: 127,023,351	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,313,334	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692	K205E	probably benign	Het
Brca1	T	A	11: 101,526,427	M294L	probably benign	Het
Capn1	A	G	19: 5,991,556	M641T	possibly damaging	Het
Col6a2	C	T	10: 76,615,091	V39I	unknown	Het
Crybg3	T	A	16: 59,557,168	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,816,142	K3380R	probably benign	Het
Eml5	T	C	12: 98,802,474	I1400M	probably benign	Het
Fancd2	A	G	6: 113,545,101	D219G	probably damaging	Het
Fras1	A	G	5: 96,708,676	S1973G	probably benign	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
G3bp1	T	A	11: 55,496,221	H271Q	possibly damaging	Het
Glce	A	G	9: 62,060,588	V427A	probably damaging	Het
Gm4778	T	C	3: 94,266,638	F314L	probably damaging	Het
Gm5141	T	C	13: 62,773,964	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,766,134	F128I	probably damaging	Het
H2-Bl	T	C	17: 36,083,941	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,130,914	L393W	probably damaging	Het
Heg1	T	C	16: 33,726,720	S650P	probably benign	Het
Hspa4l	T	A	3: 40,781,592	N569K	probably benign	Het
Ifi206	A	G	1: 173,473,875	F746L	unknown	Het
Ivl	T	C	3: 92,572,242	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,630,184	D433E	probably damaging	Het
Mgam	T	C	6: 40,768,276	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 11,008,728	L206M	probably damaging	Het
Msln	A	T	17: 25,750,080	C444S	probably damaging	Het
Mta1	A	G	12: 113,136,402	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Naa15	T	C	3: 51,458,756		probably null	Het
Nadk	A	G	4: 155,587,758	H302R	probably benign	Het
Neb	T	A	2: 52,256,112	N15I		Het
Nup153	A	T	13: 46,683,928	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,072,767	I763T	probably damaging	Het
Olfr142	T	C	2: 90,252,463	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,284,661	I107V	probably benign	Het
Prmt5	A	G	14: 54,511,342		probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,812,716	S79P	probably damaging	Het
Reln	T	C	5: 21,899,029	I3315V	probably null	Het
Rnf223	T	C	4: 156,132,699	V177A	probably benign	Het
Slc20a1	C	T	2: 129,208,272	T450M	possibly damaging	Het
Smg5	C	T	3: 88,351,347	P542S	probably benign	Het
Sorl1	T	A	9: 42,002,634	Q1333L	probably benign	Het
Spag5	T	A	11: 78,313,191		probably null	Het
Tdp2	T	A	13: 24,838,224	F209I	probably damaging	Het
Tgm4	C	A	9: 123,040,460	L35M	probably damaging	Het
Tma7	A	G	9: 109,082,512		probably benign	Het
Tmprss4	A	T	9: 45,184,273	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,395,697	M39K	probably benign	Het
Ttn	T	A	2: 76,713,568	T33025S	probably benign	Het
Tut1	A	G	19: 8,965,811	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,223,945	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,462,002	G353V	probably benign	Het
Zfp879	T	A	11: 50,833,395	H278L	probably damaging	Het

Other mutations in Cluap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0304:Cluap1	UTSW	16	3929918	unclassified	probably benign
R0545:Cluap1	UTSW	16	3933772	missense	probably damaging	0.96
R1459:Cluap1	UTSW	16	3937589	missense	probably damaging	1.00
R1511:Cluap1	UTSW	16	3919558	missense	probably benign
R2136:Cluap1	UTSW	16	3933772	missense	probably damaging	0.96
R3027:Cluap1	UTSW	16	3911532	nonsense	probably null
R3926:Cluap1	UTSW	16	3911534	missense	probably damaging	0.99
R4386:Cluap1	UTSW	16	3933722	missense	possibly damaging	0.70
R4587:Cluap1	UTSW	16	3933816	critical splice donor site	probably null
R5587:Cluap1	UTSW	16	3915484	missense	probably damaging	1.00
R6010:Cluap1	UTSW	16	3937573	missense	possibly damaging	0.91
R6169:Cluap1	UTSW	16	3928561	missense	possibly damaging	0.50
R6181:Cluap1	UTSW	16	3933744	missense	probably benign
R6194:Cluap1	UTSW	16	3929906	missense	probably benign
R6492:Cluap1	UTSW	16	3928612	missense	probably benign	0.03
R7131:Cluap1	UTSW	16	3940775	missense	probably benign	0.00
R7248:Cluap1	UTSW	16	3919500	missense	possibly damaging	0.76
R7421:Cluap1	UTSW	16	3940793	missense	probably damaging	0.99
R7719:Cluap1	UTSW	16	3909603	splice site	probably null
R7991:Cluap1	UTSW	16	3928621	missense	probably damaging	0.98
R8280:Cluap1	UTSW	16	3911153	unclassified	probably benign
R8459:Cluap1	UTSW	16	3937589	missense	probably damaging	1.00
R8790:Cluap1	UTSW	16	3917923	critical splice donor site	probably benign
R8964:Cluap1	UTSW	16	3911470	unclassified	probably benign
R9491:Cluap1	UTSW	16	3940868	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCTCAGGCTAGTGGATTTGTTC -3'
(R):5'- AACACATGTTACCTTTCCAGCC -3'

Sequencing Primer
(F):5'- ATTTGTTCAGCTAGCAATGTGC -3'
(R):5'- CTGCCGAGTCCCTGTGTAC -3'

Posted On

2019-05-15