Mutagenetix > Incidental Mutation

Incidental Mutation 'R5570:Clmp'

435618

Institutional Source

Beutler Lab

Gene Symbol

Clmp

Ensembl Gene

ENSMUSG00000032024

Gene Name

CXADR-like membrane protein

Synonyms

9030425E11Rik

MMRRC Submission

043127-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R5570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40597258-40696615 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 40683826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034522]

AlphaFold

Q8R373

Predicted Effect

probably null
Transcript: ENSMUST00000034522

SMART Domains

Protein: ENSMUSP00000034522
Gene: ENSMUSG00000032024

Domain	Start	End	E-Value	Type
IG	19	128	3.46e-7	SMART
IGc2	143	214	1.29e-6	SMART
transmembrane domain	233	255	N/A	INTRINSIC
low complexity region	287	313	N/A	INTRINSIC
low complexity region	321	332	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134153

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte maturation and development of obesity. This gene is also essential for normal intestinal development and mutations in the gene are associated with congenital short bowel syndrome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a targeted null allele exhibit reduced viability, bilateral hydronephrosis, increased mean systolic blood pressure, and exhibit several blood chemistry and neurological anomalies. Null mice are samller than controls. [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
Acrv1	C	A	9: 36,605,577 (GRCm39)	S41R	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Arhgap26	C	A	18: 39,232,671 (GRCm39)	D99E	probably damaging	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cep72	T	C	13: 74,188,260 (GRCm39)	Q211R	probably benign	Het
Coq6	T	A	12: 84,415,413 (GRCm39)	D145E	probably benign	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dock2	G	T	11: 34,618,233 (GRCm39)	R128S	probably damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 140,934,920 (GRCm39)	R76Q	possibly damaging	Het
Espn	T	C	4: 152,208,237 (GRCm39)	E460G	probably damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Fgd5	T	C	6: 91,965,668 (GRCm39)	S476P	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Lpxn	T	A	19: 12,810,023 (GRCm39)	M265K	possibly damaging	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Mcm3ap	C	T	10: 76,316,930 (GRCm39)	R645W	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Necap1	T	C	6: 122,858,471 (GRCm39)	F105L	probably damaging	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nup93	T	C	8: 95,041,298 (GRCm39)	V812A	probably damaging	Het
Or10ak7	T	A	4: 118,791,263 (GRCm39)	I259F	possibly damaging	Het
Or6e1	A	G	14: 54,519,825 (GRCm39)	F176L	probably damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Parn	G	A	16: 13,483,794 (GRCm39)	P50L	probably damaging	Het
Pcdhb7	T	C	18: 37,477,224 (GRCm39)	C787R	probably benign	Het
Pdk2	A	T	11: 94,920,826 (GRCm39)	I175N	probably damaging	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Phf12	A	G	11: 77,908,937 (GRCm39)	D339G	possibly damaging	Het
Phlpp1	A	T	1: 106,101,162 (GRCm39)	I477F	probably benign	Het
Pigt	T	A	2: 164,343,482 (GRCm39)	Y319*	probably null	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Ptgs2	A	G	1: 149,979,859 (GRCm39)	I321M		Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Rara	C	G	11: 98,863,478 (GRCm39)	R382G	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rev3l	T	C	10: 39,728,071 (GRCm39)		probably null	Het
Robo3	T	A	9: 37,336,571 (GRCm39)	Y399F	possibly damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Skint3	A	G	4: 112,092,995 (GRCm39)	M20V	probably benign	Het
Slc17a6	A	G	7: 51,308,504 (GRCm39)	D276G	probably benign	Het
Sult3a2	A	T	10: 33,654,268 (GRCm39)	V128D	probably damaging	Het
Syt3	T	A	7: 44,040,043 (GRCm39)	V92E	possibly damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Utp14b	G	A	1: 78,643,118 (GRCm39)	D339N	probably damaging	Het
Vars1	T	C	17: 35,235,214 (GRCm39)	F1259L	probably benign	Het
Vmn1r115	A	C	7: 20,578,555 (GRCm39)	V119G	possibly damaging	Het
Zc3h12a	C	T	4: 125,014,166 (GRCm39)	R293H	probably damaging	Het
Zfp638	A	T	6: 83,956,170 (GRCm39)	E1592D	probably damaging	Het

Other mutations in Clmp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Clmp	APN	9	40,693,906 (GRCm39)	makesense	probably null
IGL01783:Clmp	APN	9	40,693,703 (GRCm39)	missense	possibly damaging	0.91
IGL02565:Clmp	APN	9	40,683,711 (GRCm39)	missense	probably damaging	1.00
IGL02953:Clmp	APN	9	40,685,683 (GRCm39)	missense	probably damaging	1.00
IGL02976:Clmp	APN	9	40,692,520 (GRCm39)	missense	possibly damaging	0.92
IGL03357:Clmp	APN	9	40,597,623 (GRCm39)	utr 5 prime	probably benign
IGL03383:Clmp	APN	9	40,685,737 (GRCm39)	missense	probably damaging	1.00
R0530:Clmp	UTSW	9	40,672,302 (GRCm39)	missense	probably benign	0.00
R0539:Clmp	UTSW	9	40,693,782 (GRCm39)	missense	probably benign	0.00
R1453:Clmp	UTSW	9	40,693,737 (GRCm39)	missense	probably damaging	0.98
R1623:Clmp	UTSW	9	40,693,856 (GRCm39)	missense	probably benign
R2899:Clmp	UTSW	9	40,693,688 (GRCm39)	missense	probably damaging	1.00
R4175:Clmp	UTSW	9	40,682,432 (GRCm39)	missense	probably benign	0.04
R6048:Clmp	UTSW	9	40,682,405 (GRCm39)	missense	probably damaging	1.00
R6240:Clmp	UTSW	9	40,693,707 (GRCm39)	missense	probably damaging	1.00
R6551:Clmp	UTSW	9	40,682,573 (GRCm39)	missense	probably benign
R7216:Clmp	UTSW	9	40,672,205 (GRCm39)	missense	possibly damaging	0.62
R8179:Clmp	UTSW	9	40,692,475 (GRCm39)	missense	probably benign	0.31
R8813:Clmp	UTSW	9	40,692,549 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTCACCAGTGAGACCATCC -3'
(R):5'- TATGAGACCGGGCCTCAAAAC -3'

Sequencing Primer
(F):5'- TCCAAGCCCAAGTGTGAGCTG -3'
(R):5'- TTGACAACCACGCACGC -3'

Posted On

2016-10-24