Mutagenetix > Incidental Mutation

Incidental Mutation 'R8179:Clmp'

634555

Institutional Source

Beutler Lab

Gene Symbol

Clmp

Ensembl Gene

ENSMUSG00000032024

Gene Name

CXADR-like membrane protein

Synonyms

9030425E11Rik

MMRRC Submission

067604-MU

Accession Numbers

Essential gene?

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

Stock #

R8179 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40597258-40696615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40692475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 248 (F248S)

Ref Sequence

ENSEMBL: ENSMUSP00000034522 (fasta)

Gene Model

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

AlphaFold

Q8R373

Predicted Effect

probably benign
Transcript: ENSMUST00000034522
AA Change: F248S

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034522
Gene: ENSMUSG00000032024
AA Change: F248S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,136,100 (GRCm39)	Y170H	probably damaging	Het
Ace3	G	T	11: 105,895,383 (GRCm39)	V602L	probably benign	Het
Ahr	T	C	12: 35,560,050 (GRCm39)	Q201R	probably benign	Het
Aldh18a1	A	C	19: 40,545,952 (GRCm39)	C612G	probably damaging	Het
Ankrd40	G	A	11: 94,225,541 (GRCm39)	A191T	probably benign	Het
Aox1	A	G	1: 58,137,117 (GRCm39)	D1169G	probably damaging	Het
Arfgap2	T	C	2: 91,105,668 (GRCm39)	F505L	probably damaging	Het
Arhgap40	T	C	2: 158,381,776 (GRCm39)	F423L	probably damaging	Het
Atf6b	T	C	17: 34,872,968 (GRCm39)	M628T	probably damaging	Het
Casp8ap2	T	A	4: 32,643,939 (GRCm39)	L1004*	probably null	Het
Cc2d2a	T	A	5: 43,857,295 (GRCm39)	L494Q	probably damaging	Het
Cd180	T	C	13: 102,842,141 (GRCm39)	S396P	probably benign	Het
Cdk19	T	C	10: 40,270,368 (GRCm39)	I59T	possibly damaging	Het
Cfap54	G	T	10: 92,833,178 (GRCm39)	F1149L	possibly damaging	Het
Chp1	C	T	2: 119,378,253 (GRCm39)		probably benign	Het
Ctc1	T	A	11: 68,915,050 (GRCm39)	I237K	probably benign	Het
Dcaf1	G	T	9: 106,735,115 (GRCm39)	V688L	probably damaging	Het
Ddx54	T	A	5: 120,765,167 (GRCm39)	M812K	probably benign	Het
Disc1	C	T	8: 125,814,316 (GRCm39)	P60L	probably benign	Het
Disp2	C	G	2: 118,623,030 (GRCm39)	P1254R	probably damaging	Het
Dnah11	T	A	12: 117,842,284 (GRCm39)	I4432F	possibly damaging	Het
Dnajc15	A	T	14: 78,090,393 (GRCm39)	I58N		Het
Elovl5	A	G	9: 77,884,181 (GRCm39)	N159S	probably damaging	Het
Fgfr3	T	C	5: 33,885,099 (GRCm39)	V71A	probably benign	Het
Frs2	A	T	10: 116,912,791 (GRCm39)	H167Q	probably damaging	Het
Gm4553	A	T	7: 141,718,594 (GRCm39)	V278E	unknown	Het
Grin2d	A	T	7: 45,507,452 (GRCm39)	Y416*	probably null	Het
Hmcn1	A	T	1: 150,598,265 (GRCm39)	V1679E	probably benign	Het
Igkv18-36	T	C	6: 69,969,479 (GRCm39)	Y105C	probably damaging	Het
Lingo1	T	C	9: 56,527,134 (GRCm39)	D491G	probably damaging	Het
Map3k1	A	C	13: 111,885,581 (GRCm39)	I1445M	probably damaging	Het
Med30	A	T	15: 52,575,964 (GRCm39)	Q20L	probably damaging	Het
Mgat5b	A	G	11: 116,822,554 (GRCm39)	E96G	probably benign	Het
Mmp16	T	A	4: 17,853,854 (GRCm39)		probably null	Het
Mogat1	A	G	1: 78,504,255 (GRCm39)	D176G	possibly damaging	Het
Mre11a	T	A	9: 14,708,362 (GRCm39)	D142E	probably null	Het
Mybpc2	C	A	7: 44,159,254 (GRCm39)	V599L	probably benign	Het
Myot	A	T	18: 44,487,197 (GRCm39)	R345*	probably null	Het
Or10d5	G	A	9: 39,861,708 (GRCm39)	R120C	probably benign	Het
Or10z1	T	G	1: 174,078,130 (GRCm39)	D121A	possibly damaging	Het
Or8g53	C	T	9: 39,683,200 (GRCm39)	V299I	probably benign	Het
Pglyrp2	T	C	17: 32,635,003 (GRCm39)	Y453C	possibly damaging	Het
Phrf1	A	G	7: 140,836,493 (GRCm39)	Y255C	unknown	Het
Plppr4	A	G	3: 117,125,327 (GRCm39)	S171P	probably damaging	Het
Ppip5k1	A	T	2: 121,172,095 (GRCm39)		probably null	Het
Pramel57	T	C	5: 95,667,753 (GRCm39)	V111A	probably benign	Het
Rapgef3	A	T	15: 97,658,621 (GRCm39)	H170Q	probably benign	Het
Rnf10	ACCTCATCTCGTC	AC	5: 115,398,176 (GRCm39)		probably null	Het
Rpe65	A	G	3: 159,330,336 (GRCm39)	Y501C	probably benign	Het
Ruvbl2	A	G	7: 45,072,196 (GRCm39)	I346T	probably damaging	Het
Sema3g	A	G	14: 30,942,542 (GRCm39)	I48V	probably benign	Het
Slc4a10	A	C	2: 62,073,792 (GRCm39)	S285R	possibly damaging	Het
Slc6a11	G	A	6: 114,222,567 (GRCm39)	G521S	probably benign	Het
Slit3	A	G	11: 35,554,903 (GRCm39)	N912D	probably benign	Het
Traf3ip1	T	C	1: 91,428,523 (GRCm39)	V128A	unknown	Het
Trpc7	T	A	13: 57,035,693 (GRCm39)	N80I	probably damaging	Het
Ttc21b	G	A	2: 66,031,824 (GRCm39)	H1031Y	probably benign	Het
Tubg2	A	T	11: 101,051,082 (GRCm39)	I235F	probably benign	Het
Ube2q2l	A	G	6: 136,378,240 (GRCm39)	S197P	probably damaging	Het
Vmn2r118	A	T	17: 55,915,484 (GRCm39)	Y489N	probably benign	Het
Vmn2r54	G	T	7: 12,366,018 (GRCm39)	C305*	probably null	Het
Vmn2r86	G	A	10: 130,288,953 (GRCm39)	H183Y	probably benign	Het
Xrcc5	T	C	1: 72,396,016 (GRCm39)	V603A	probably damaging	Het
Zfp110	T	A	7: 12,578,498 (GRCm39)	Y136*	probably null	Het
Zfp112	C	T	7: 23,825,063 (GRCm39)	P348S	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
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
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
R8813:Clmp	UTSW	9	40,692,549 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAAGGCACAGTCACAGCATG -3'
(R):5'- CCAGACTGTAATTTCCTACTTGCTAG -3'

Sequencing Primer
(F):5'- TCACAGCATGCGAGGGTTG -3'
(R):5'- CTTGCTAGGATAACCCTTTGAAGAG -3'

Posted On

2020-07-13