Mutagenetix > Incidental Mutation

Incidental Mutation 'R0530:Clmp'

49110

Institutional Source

Beutler Lab

Gene Symbol

Clmp

Ensembl Gene

ENSMUSG00000032024

Gene Name

CXADR-like membrane protein

Synonyms

9030425E11Rik

MMRRC Submission

038722-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R0530 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40597258-40696615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40672302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 44 (D44G)

Ref Sequence

ENSEMBL: ENSMUSP00000034522 (fasta)

Gene Model

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

AlphaFold

Q8R373

Predicted Effect

probably benign
Transcript: ENSMUST00000034522
AA Change: D44G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000034522
Gene: ENSMUSG00000032024
AA Change: D44G

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: ENSMUST00000139577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216792

Meta Mutation Damage Score

0.0603

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

96% (51/53)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,083,920 (GRCm39)	W617R	probably damaging	Het
Adam34l	A	T	8: 44,079,568 (GRCm39)	C219S	probably benign	Het
Cep83	A	T	10: 94,555,450 (GRCm39)		probably benign	Het
Ces1e	G	A	8: 93,946,149 (GRCm39)		probably benign	Het
Ckap2	A	G	8: 22,665,988 (GRCm39)		probably benign	Het
Clip1	C	A	5: 123,778,594 (GRCm39)	R443L	probably damaging	Het
Cntnap2	G	A	6: 46,506,839 (GRCm39)	Q304*	probably null	Het
Cst7	A	T	2: 150,412,435 (GRCm39)		probably benign	Het
Dclk3	A	T	9: 111,311,789 (GRCm39)	Y677F	probably damaging	Het
Dlat	G	T	9: 50,548,869 (GRCm39)	N562K	probably damaging	Het
Elmod1	A	T	9: 53,833,260 (GRCm39)	Y182N	probably damaging	Het
Fzd10	T	C	5: 128,679,077 (GRCm39)	F266L	probably damaging	Het
Gm8258	A	G	5: 104,923,952 (GRCm39)		noncoding transcript	Het
Gm9742	T	A	13: 8,080,041 (GRCm39)		noncoding transcript	Het
Hdlbp	T	C	1: 93,358,039 (GRCm39)		probably benign	Het
Itga8	A	G	2: 12,196,627 (GRCm39)	S597P	probably damaging	Het
Kndc1	A	T	7: 139,481,153 (GRCm39)	I80F	probably damaging	Het
Ktn1	A	G	14: 47,970,700 (GRCm39)	N1192S	probably benign	Het
Ldha	G	A	7: 46,503,417 (GRCm39)	V270M	probably damaging	Het
Lyst	T	C	13: 13,931,891 (GRCm39)		probably benign	Het
Map3k9	A	T	12: 81,769,256 (GRCm39)	F954I	probably benign	Het
Mroh2b	A	G	15: 4,963,877 (GRCm39)	N823S	probably damaging	Het
Mycbp2	A	T	14: 103,419,895 (GRCm39)	N2480K	probably damaging	Het
Nat1	A	G	8: 67,943,977 (GRCm39)	K121E	probably benign	Het
Neurl1b	T	A	17: 26,660,519 (GRCm39)		probably null	Het
Nnt	C	A	13: 119,531,257 (GRCm39)	L163F	probably damaging	Het
Or10v5	A	G	19: 11,805,556 (GRCm39)	V278A	probably benign	Het
Otog	A	G	7: 45,947,668 (GRCm39)	T2274A	probably damaging	Het
Pde4b	G	A	4: 102,459,848 (GRCm39)	R561Q	probably damaging	Het
Pitpnm2	A	G	5: 124,269,264 (GRCm39)	F453L	probably damaging	Het
Pms1	T	C	1: 53,235,972 (GRCm39)		probably null	Het
Pot1a	A	G	6: 25,771,540 (GRCm39)	V227A	possibly damaging	Het
Prdx6b	A	G	2: 80,123,659 (GRCm39)	N156S	probably damaging	Het
Ptpn9	A	G	9: 56,968,417 (GRCm39)	S586G	probably benign	Het
Serpina6	A	T	12: 103,618,053 (GRCm39)	N253K	probably damaging	Het
Slc12a2	T	A	18: 58,052,608 (GRCm39)	V809D	possibly damaging	Het
Slc2a8	C	T	2: 32,863,696 (GRCm39)	A449T	probably benign	Het
Slc6a6	A	G	6: 91,701,939 (GRCm39)	I116V	probably null	Het
Synj2	T	A	17: 6,058,380 (GRCm39)	S58R	possibly damaging	Het
Tafa3	T	C	3: 104,679,487 (GRCm39)		probably benign	Het
Tktl2	T	C	8: 66,965,831 (GRCm39)	V463A	probably damaging	Het
Uchl5	T	C	1: 143,670,082 (GRCm39)	V105A	possibly damaging	Het
Usp9y	T	C	Y: 1,333,600 (GRCm39)		probably benign	Het
Vmn1r200	T	C	13: 22,579,667 (GRCm39)	S148P	probably damaging	Het
Vmn2r50	A	T	7: 9,781,644 (GRCm39)	M367K	possibly damaging	Het
Vps13a	T	C	19: 16,632,570 (GRCm39)		probably benign	Het
Wdr26	A	T	1: 181,013,635 (GRCm39)		probably null	Het
Wdr87-ps	A	G	7: 29,229,545 (GRCm39)		noncoding transcript	Het
Ythdc2	T	A	18: 44,983,465 (GRCm39)	M544K	probably damaging	Het
Zpld2	A	G	4: 133,930,221 (GRCm39)	I28T	probably benign	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
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
R5570:Clmp	UTSW	9	40,683,826 (GRCm39)	critical splice donor site	probably null
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'- AGCATCTGCATTGCTCATTAGAGGG -3'
(R):5'- GCATCAAGCTGCTGCATCTTAGCC -3'

Sequencing Primer
(F):5'- CATTGCTCATTAGAGGGTTTCC -3'
(R):5'- agttcttattgcccgtgcc -3'

Posted On

2013-06-12