Mutagenetix > Incidental Mutation

Incidental Mutation 'R7421:Cluap1'

575692

Institutional Source

Beutler Lab

Gene Symbol

Cluap1

Ensembl Gene

ENSMUSG00000014232

Gene Name

clusterin associated protein 1

Synonyms

2310030D15Rik, 2610111M03Rik

MMRRC Submission

045499-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7421 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3726665-3759011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3758657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 373 (D373V)

Ref Sequence

ENSEMBL: ENSMUSP00000043397 (fasta)

Gene Model

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

AlphaFold

Q8R3P7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040881
AA Change: D373V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043397
Gene: ENSMUSG00000014232
AA Change: D373V

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

Meta Mutation Damage Score

0.1057

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	C	2: 156,397,915 (GRCm39)	I309T	possibly damaging	Het
Abca12	A	C	1: 71,286,295 (GRCm39)	L2513*	probably null	Het
Abca13	G	C	11: 9,460,463 (GRCm39)	V4158L	probably benign	Het
Acaca	A	G	11: 84,254,562 (GRCm39)	T1880A	possibly damaging	Het
Arhgap5	C	T	12: 52,564,783 (GRCm39)	R585C	probably benign	Het
Arsk	A	C	13: 76,210,634 (GRCm39)	I471S	possibly damaging	Het
Asb7	T	C	7: 66,309,868 (GRCm39)	D116G	probably damaging	Het
Atad2	A	G	15: 57,998,322 (GRCm39)	S17P	probably benign	Het
Atf5	T	C	7: 44,464,562 (GRCm39)	E10G	probably damaging	Het
B3gntl1	G	T	11: 121,515,004 (GRCm39)	P255T	probably benign	Het
Cacna1s	A	G	1: 136,014,540 (GRCm39)	N649S	probably damaging	Het
Ccnc	A	G	4: 21,743,291 (GRCm39)	Y192C	probably damaging	Het
Cd28	A	G	1: 60,802,459 (GRCm39)	N126S	probably benign	Het
Cep57	A	G	9: 13,721,969 (GRCm39)	S360P	possibly damaging	Het
Ces1e	C	T	8: 93,941,703 (GRCm39)	V257I	probably benign	Het
Chd1	A	G	17: 15,969,660 (GRCm39)	K913R	probably benign	Het
Cnmd	T	C	14: 79,882,947 (GRCm39)	I160V	probably benign	Het
Col6a4	G	A	9: 105,897,994 (GRCm39)	P1686S	probably damaging	Het
Coro7	G	T	16: 4,486,615 (GRCm39)	A186E	probably benign	Het
Cuta	T	C	17: 27,158,431 (GRCm39)		probably benign	Het
Dnah2	G	A	11: 69,383,631 (GRCm39)	H1098Y	probably benign	Het
Duox1	T	A	2: 122,153,711 (GRCm39)	C345S	probably damaging	Het
Ephb4	T	A	5: 137,352,687 (GRCm39)	I90K	possibly damaging	Het
Erich3	T	A	3: 154,439,198 (GRCm39)	M280K	probably damaging	Het
Fcer2a	T	A	8: 3,740,335 (GRCm39)	H4L	probably benign	Het
Grk1	A	T	8: 13,455,316 (GRCm39)	I67F	probably damaging	Het
Grm8	A	C	6: 27,762,476 (GRCm39)	S250A	possibly damaging	Het
H2-Q6	A	G	17: 35,644,204 (GRCm39)	E62G	possibly damaging	Het
Inppl1	C	T	7: 101,482,144 (GRCm39)	R144H	probably damaging	Het
Itga3	G	T	11: 94,959,681 (GRCm39)	P33Q	probably benign	Het
Itgax	G	A	7: 127,739,604 (GRCm39)	S672N	probably damaging	Het
Itpk1	A	T	12: 102,540,324 (GRCm39)	V253E	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Mrps7	T	C	11: 115,495,717 (GRCm39)	V85A	probably benign	Het
Muc2	T	C	7: 141,301,863 (GRCm39)	L427P		Het
Myef2	G	T	2: 124,952,537 (GRCm39)	Q185K	probably benign	Het
Or1e1b-ps1	G	T	11: 73,846,335 (GRCm39)	C273F	unknown	Het
Or4a76	T	A	2: 89,460,915 (GRCm39)	D109V	probably damaging	Het
Pcdh15	G	A	10: 74,289,897 (GRCm39)	M905I	possibly damaging	Het
Pgm5	C	T	19: 24,686,663 (GRCm39)	V515M	probably benign	Het
Pik3r1	A	G	13: 101,825,644 (GRCm39)	I381T	probably damaging	Het
Pla2g4f	A	G	2: 120,137,737 (GRCm39)	M341T	probably benign	Het
Prmt2	A	G	10: 76,056,912 (GRCm39)	F204L	probably benign	Het
Pwwp3a	T	A	10: 80,068,587 (GRCm39)	S244T	probably benign	Het
Rasa2	A	G	9: 96,493,500 (GRCm39)	V50A	unknown	Het
Scn7a	A	C	2: 66,505,876 (GRCm39)	I1671S	probably benign	Het
Sco2	G	A	15: 89,255,923 (GRCm39)	R244C	possibly damaging	Het
Skic3	A	T	13: 76,296,944 (GRCm39)	K1100N	probably benign	Het
Slfn1	A	G	11: 83,011,967 (GRCm39)	M28V	possibly damaging	Het
Slfn9	A	T	11: 82,872,197 (GRCm39)	C846*	probably null	Het
Slfn9	A	G	11: 82,878,562 (GRCm39)	I189T	probably damaging	Het
Svil	T	A	18: 5,056,109 (GRCm39)	S327R	probably benign	Het
Tcaf3	A	T	6: 42,573,776 (GRCm39)	N145K	probably benign	Het
Trarg1	G	A	11: 76,585,051 (GRCm39)	R147Q	unknown	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Upp2	G	T	2: 58,661,586 (GRCm39)	V130F	possibly damaging	Het
Vnn3	G	A	10: 23,741,666 (GRCm39)	A324T	probably benign	Het
Wasf2	A	G	4: 132,912,412 (GRCm39)	E88G	unknown	Het
Zfp39	A	T	11: 58,780,933 (GRCm39)	C610S	probably damaging	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
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
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'- CCTCAGGCTAGTGGATTTGTTC -3'
(R):5'- AACACATGTTACCTTTCCAGCC -3'

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

Posted On

2019-10-07