Mutagenetix > Incidental Mutation

Incidental Mutation 'R8374:Clptm1'

646572

Institutional Source

Beutler Lab

Gene Symbol

Clptm1

Ensembl Gene

ENSMUSG00000002981

Gene Name

cleft lip and palate associated transmembrane protein 1

Synonyms

N14, HS9

MMRRC Submission

067742-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R8374 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19365505-19398955 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19372081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 252 (P252S)

Ref Sequence

ENSEMBL: ENSMUSP00000051293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055242]

AlphaFold

Q8VBZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000055242
AA Change: P252S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000051293
Gene: ENSMUSG00000002981
AA Change: P252S

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
low complexity region	35	52	N/A	INTRINSIC
Pfam:CLPTM1	56	497	5.8e-148	PFAM
transmembrane domain	507	529	N/A	INTRINSIC
low complexity region	606	628	N/A	INTRINSIC
low complexity region	649	664	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	C	T	9: 30,814,002 (GRCm39)	G721E	probably benign	Het
Aip	A	T	19: 4,165,456 (GRCm39)	M170K	probably damaging	Het
Alms1	T	C	6: 85,585,973 (GRCm39)	I276T	probably benign	Het
Arid1b	C	T	17: 5,392,919 (GRCm39)	P2097S	possibly damaging	Het
Astn1	T	G	1: 158,329,803 (GRCm39)	N219K	probably damaging	Het
Cbx2	G	T	11: 118,918,969 (GRCm39)	R178L	probably damaging	Het
Crebbp	A	G	16: 3,902,175 (GRCm39)	S2355P	probably damaging	Het
D130043K22Rik	C	A	13: 25,041,962 (GRCm39)	T297K	probably benign	Het
Ddx60	A	G	8: 62,427,205 (GRCm39)	D760G	probably benign	Het
Dgka	T	C	10: 128,557,112 (GRCm39)	N621S	probably benign	Het
Ear10	A	T	14: 44,160,645 (GRCm39)	C61S	probably damaging	Het
F12	A	T	13: 55,569,144 (GRCm39)	C238S	probably damaging	Het
Fen1	A	G	19: 10,177,824 (GRCm39)	F207L	probably benign	Het
Fzr1	A	G	10: 81,203,368 (GRCm39)	L486P	probably damaging	Het
Gdnf	A	G	15: 7,864,176 (GRCm39)	R196G	probably benign	Het
Gldc	A	C	19: 30,114,594 (GRCm39)	F439V	probably damaging	Het
Gm3138	T	C	14: 4,251,688 (GRCm38)	M120T	probably damaging	Het
Gpi1	G	A	7: 33,920,082 (GRCm39)	A197V	probably benign	Het
Ighv1-4	T	A	12: 114,450,899 (GRCm39)	I70F	probably benign	Het
Il19	A	T	1: 130,866,893 (GRCm39)	L29Q	probably damaging	Het
Kank1	A	T	19: 25,389,005 (GRCm39)	I893F	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kif13b	T	C	14: 65,025,884 (GRCm39)	S1414P	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,265,755 (GRCm39)		probably null	Het
Mosmo	T	A	7: 120,329,715 (GRCm39)	M112K	probably benign	Het
Ntmt2	A	T	1: 163,530,617 (GRCm39)	M274K	probably damaging	Het
Or2d2b	A	G	7: 106,706,033 (GRCm39)	F12L	probably damaging	Het
Or2h1b	C	A	17: 37,462,636 (GRCm39)	V76F	probably damaging	Het
Or2w3b	T	A	11: 58,623,724 (GRCm39)	D89V	probably damaging	Het
Pak6	G	A	2: 118,524,477 (GRCm39)	V497I	probably benign	Het
Ppargc1b	G	A	18: 61,443,564 (GRCm39)	S549F	probably damaging	Het
Rassf8	T	A	6: 145,760,863 (GRCm39)	L63*	probably null	Het
Rptn	G	T	3: 93,303,602 (GRCm39)	G312*	probably null	Het
Rsph14	T	C	10: 74,797,481 (GRCm39)	I169V	probably benign	Het
Sltm	A	G	9: 70,469,227 (GRCm39)	D162G	probably null	Het
Tatdn1	C	T	15: 58,788,000 (GRCm39)		probably null	Het
Tbx4	A	C	11: 85,805,102 (GRCm39)	E397A	probably benign	Het
Tdrd12	T	C	7: 35,177,486 (GRCm39)	D956G	unknown	Het
Tnr	G	A	1: 159,685,953 (GRCm39)	V395I	probably benign	Het
Ugt1a2	A	T	1: 88,129,107 (GRCm39)	H250L	possibly damaging	Het
Vmn1r173	C	T	7: 23,401,920 (GRCm39)	H52Y	probably damaging	Het
Vps11	T	C	9: 44,267,706 (GRCm39)	D302G	probably benign	Het
Zfp398	T	C	6: 47,836,468 (GRCm39)		probably null	Het

Other mutations in Clptm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01614:Clptm1	APN	7	19,371,625 (GRCm39)	missense	probably benign	0.14
IGL01909:Clptm1	APN	7	19,389,701 (GRCm39)	missense	probably benign	0.37
IGL03089:Clptm1	APN	7	19,371,072 (GRCm39)	missense	probably damaging	1.00
H8786:Clptm1	UTSW	7	19,369,629 (GRCm39)	missense	possibly damaging	0.54
R0128:Clptm1	UTSW	7	19,368,932 (GRCm39)	missense	probably damaging	1.00
R0835:Clptm1	UTSW	7	19,369,599 (GRCm39)	missense	possibly damaging	0.61
R1167:Clptm1	UTSW	7	19,368,136 (GRCm39)	missense	probably damaging	1.00
R1370:Clptm1	UTSW	7	19,367,797 (GRCm39)	missense	possibly damaging	0.61
R1655:Clptm1	UTSW	7	19,379,792 (GRCm39)	missense	probably benign	0.00
R1855:Clptm1	UTSW	7	19,372,134 (GRCm39)	missense	probably benign	0.05
R2004:Clptm1	UTSW	7	19,380,762 (GRCm39)	missense	possibly damaging	0.46
R2189:Clptm1	UTSW	7	19,371,070 (GRCm39)	nonsense	probably null
R2203:Clptm1	UTSW	7	19,367,817 (GRCm39)	missense	possibly damaging	0.92
R3237:Clptm1	UTSW	7	19,369,271 (GRCm39)	missense	probably damaging	0.99
R3963:Clptm1	UTSW	7	19,372,121 (GRCm39)	nonsense	probably null
R5416:Clptm1	UTSW	7	19,367,741 (GRCm39)	unclassified	probably benign
R6110:Clptm1	UTSW	7	19,367,731 (GRCm39)	unclassified	probably benign
R6474:Clptm1	UTSW	7	19,369,762 (GRCm39)	missense	possibly damaging	0.94
R6737:Clptm1	UTSW	7	19,371,001 (GRCm39)	critical splice donor site	probably null
R6897:Clptm1	UTSW	7	19,369,751 (GRCm39)	missense	possibly damaging	0.94
R8144:Clptm1	UTSW	7	19,367,827 (GRCm39)	missense	possibly damaging	0.88
R8244:Clptm1	UTSW	7	19,372,916 (GRCm39)	missense	possibly damaging	0.46
R8438:Clptm1	UTSW	7	19,379,776 (GRCm39)	missense	probably benign	0.00
R8885:Clptm1	UTSW	7	19,372,932 (GRCm39)	missense	probably damaging	1.00
R9399:Clptm1	UTSW	7	19,367,842 (GRCm39)	missense	probably damaging	1.00
R9467:Clptm1	UTSW	7	19,371,449 (GRCm39)	missense	probably benign	0.04
R9529:Clptm1	UTSW	7	19,371,600 (GRCm39)	missense	probably benign	0.17
R9601:Clptm1	UTSW	7	19,369,763 (GRCm39)	missense	probably damaging	1.00
Z1177:Clptm1	UTSW	7	19,371,393 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTGAGAAACCAGGTGTGACC -3'
(R):5'- TTCTGCCCCAGTTGTCATGG -3'

Sequencing Primer
(F):5'- CACACTGGCCAGGACTTG -3'
(R):5'- TTGTCATGGGAGGGCATAAGC -3'

Posted On

2020-09-02