Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Otop2'

603356

Institutional Source

Beutler Lab

Gene Symbol

Otop2

Ensembl Gene

ENSMUSG00000050201

Gene Name

otopetrin 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115307163-115332303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 115323666 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 83 (R83L)

Ref Sequence

ENSEMBL: ENSMUSP00000062109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055490] [ENSMUST00000103037] [ENSMUST00000106544]

AlphaFold

Q80SX5

Predicted Effect

probably benign
Transcript: ENSMUST00000055490
AA Change: R83L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
AA Change: R83L

Domain	Start	End	E-Value	Type
transmembrane domain	30	52	N/A	INTRINSIC
transmembrane domain	62	81	N/A	INTRINSIC
Pfam:Otopetrin	102	225	1e-18	PFAM
Pfam:Otopetrin	214	451	5.5e-20	PFAM
Pfam:Otopetrin	479	550	8.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103037

SMART Domains

Protein: ENSMUSP00000099326
Gene: ENSMUSG00000045288

Domain	Start	End	E-Value	Type
ANK	31	60	1.83e-3	SMART
ANK	64	93	8.07e-5	SMART
ANK	97	126	6.26e-2	SMART
low complexity region	159	190	N/A	INTRINSIC
PDB:3PVL\|B	295	368	3e-30	PDB
SAM	385	449	1.34e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106544
AA Change: R83L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
AA Change: R83L

Domain	Start	End	E-Value	Type
transmembrane domain	30	52	N/A	INTRINSIC
transmembrane domain	62	81	N/A	INTRINSIC
Pfam:Otopetrin	102	450	7.9e-54	PFAM
Pfam:Otopetrin	476	550	2e-16	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	G	19: 58,789,294 (GRCm38)	F28S	probably damaging	Het
4930435E12Rik	T	C	16: 38,828,001 (GRCm38)	T249A	probably benign	Het
4932438A13Rik	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757 (GRCm38)		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096 (GRCm38)		probably benign	Het
Adamts9	A	G	6: 92,943,145 (GRCm38)	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232 (GRCm38)		probably benign	Het
Alk	A	G	17: 71,895,936 (GRCm38)	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926 (GRCm38)		probably benign	Het
Ano3	A	C	2: 110,697,036 (GRCm38)	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830 (GRCm38)		probably null	Het
Card6	T	C	15: 5,100,142 (GRCm38)	I591V	probably benign	Het
Ccdc18	A	G	5: 108,220,716 (GRCm38)	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531 (GRCm38)		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744 (GRCm38)		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597 (GRCm38)		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 87,040,432 (GRCm38)		probably benign	Het
Cyp8b1	A	T	9: 121,915,495 (GRCm38)	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985 (GRCm38)	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,485,831 (GRCm38)		probably benign	Het
Ercc6l2	A	T	13: 63,853,017 (GRCm38)	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932 (GRCm38)		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895 (GRCm38)		probably benign	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520 (GRCm38)		probably null	Het
Flvcr2	T	A	12: 85,747,186 (GRCm38)	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175 (GRCm38)		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416 (GRCm38)		probably benign	Het
Gm4884	C	A	7: 41,040,809 (GRCm38)	P43Q	probably damaging	Het
Gm6588	T	A	5: 112,450,071 (GRCm38)	N161K	probably benign	Het
Grm8	A	G	6: 27,363,780 (GRCm38)	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657 (GRCm38)		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343 (GRCm38)		probably benign	Het
Kif18b	T	C	11: 102,912,366 (GRCm38)	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135 (GRCm38)		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274 (GRCm38)		probably benign	Het
Lama1	C	A	17: 67,781,062 (GRCm38)	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836 (GRCm38)		probably null	Het
Lmna	A	G	3: 88,484,054 (GRCm38)	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260 (GRCm38)		probably null	Het
Mboat7	T	A	7: 3,691,857 (GRCm38)	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,275,966 (GRCm38)		probably benign	Het
Morc2a	T	A	11: 3,676,191 (GRCm38)	M225K	probably benign	Het
Mpdz	G	A	4: 81,293,592 (GRCm38)	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,548,641 (GRCm38)	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898 (GRCm38)	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356 (GRCm38)		probably null	Het
Myo10	T	A	15: 25,799,479 (GRCm38)	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408 (GRCm38)	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680 (GRCm38)	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032 (GRCm38)		probably benign	Het
Numa1	T	C	7: 101,999,780 (GRCm38)	L906P	probably damaging	Het
Olfr750	G	A	14: 51,071,012 (GRCm38)	A127V	probably damaging	Het
Olfr871	T	C	9: 20,212,894 (GRCm38)	S182P	probably benign	Het
Pmm1	T	A	15: 81,957,813 (GRCm38)	Q62L	probably damaging	Het
Pramef25	C	G	4: 143,948,908 (GRCm38)	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,471,170 (GRCm38)	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941 (GRCm38)		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180 (GRCm38)		probably benign	Het
Rsrp1	T	A	4: 134,923,955 (GRCm38)	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388 (GRCm38)		probably null	Het
Six4	TG	T	12: 73,103,582 (GRCm38)		probably null	Het
Slc6a15	T	A	10: 103,400,216 (GRCm38)	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211 (GRCm38)		probably benign	Het
Sost	A	T	11: 101,964,132 (GRCm38)	I117N	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774 (GRCm38)		probably null	Het
Tcaf1	C	T	6: 42,679,173 (GRCm38)	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743 (GRCm38)		probably benign	Het
Tgfbr1	A	G	4: 47,353,354 (GRCm38)	I15V	unknown	Het
Tmem241	A	T	18: 11,983,561 (GRCm38)	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444 (GRCm38)	V100G	probably benign	Het
Trim66	A	G	7: 109,460,753 (GRCm38)	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,087,464 (GRCm38)	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,169,338 (GRCm38)	V220A	probably benign	Het
Zan	T	A	5: 137,391,720 (GRCm38)	Q4830L	unknown	Het

Other mutations in Otop2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Otop2	APN	11	115,331,909 (GRCm38)	missense	probably damaging	1.00
IGL01832:Otop2	APN	11	115,326,943 (GRCm38)	missense	probably benign
IGL02114:Otop2	APN	11	115,326,980 (GRCm38)	missense	possibly damaging	0.64
IGL02432:Otop2	APN	11	115,329,162 (GRCm38)	missense	probably damaging	0.99
IGL02453:Otop2	APN	11	115,324,629 (GRCm38)	nonsense	probably null
IGL02986:Otop2	APN	11	115,329,567 (GRCm38)	missense	probably benign	0.11
IGL03225:Otop2	APN	11	115,329,807 (GRCm38)	missense	probably damaging	1.00
R0402:Otop2	UTSW	11	115,326,408 (GRCm38)	splice site	probably benign
R0553:Otop2	UTSW	11	115,329,462 (GRCm38)	missense	probably damaging	0.98
R1209:Otop2	UTSW	11	115,324,643 (GRCm38)	missense	possibly damaging	0.70
R1497:Otop2	UTSW	11	115,329,849 (GRCm38)	splice site	probably null
R1765:Otop2	UTSW	11	115,324,678 (GRCm38)	missense	probably benign	0.04
R1822:Otop2	UTSW	11	115,324,628 (GRCm38)	missense	probably benign	0.41
R1926:Otop2	UTSW	11	115,326,955 (GRCm38)	missense	probably benign	0.00
R2151:Otop2	UTSW	11	115,329,411 (GRCm38)	missense	possibly damaging	0.90
R2192:Otop2	UTSW	11	115,326,931 (GRCm38)	missense	possibly damaging	0.63
R2350:Otop2	UTSW	11	115,326,850 (GRCm38)	missense	probably damaging	0.97
R2352:Otop2	UTSW	11	115,329,101 (GRCm38)	missense	probably damaging	1.00
R2915:Otop2	UTSW	11	115,329,146 (GRCm38)	missense	probably benign	0.07
R3614:Otop2	UTSW	11	115,329,146 (GRCm38)	missense	probably benign	0.07
R4060:Otop2	UTSW	11	115,329,375 (GRCm38)	missense	probably damaging	1.00
R4061:Otop2	UTSW	11	115,329,375 (GRCm38)	missense	probably damaging	1.00
R4062:Otop2	UTSW	11	115,329,375 (GRCm38)	missense	probably damaging	1.00
R4063:Otop2	UTSW	11	115,329,375 (GRCm38)	missense	probably damaging	1.00
R4064:Otop2	UTSW	11	115,329,375 (GRCm38)	missense	probably damaging	1.00
R4184:Otop2	UTSW	11	115,329,845 (GRCm38)	missense	probably benign	0.05
R4844:Otop2	UTSW	11	115,323,375 (GRCm38)	splice site	probably null
R5681:Otop2	UTSW	11	115,326,859 (GRCm38)	missense	probably damaging	1.00
R5713:Otop2	UTSW	11	115,329,044 (GRCm38)	missense	probably damaging	0.98
R6738:Otop2	UTSW	11	115,329,492 (GRCm38)	missense	probably damaging	1.00
R6975:Otop2	UTSW	11	115,329,326 (GRCm38)	missense	possibly damaging	0.93
R8866:Otop2	UTSW	11	115,329,528 (GRCm38)	missense	probably benign
R9017:Otop2	UTSW	11	115,323,605 (GRCm38)	missense	probably benign	0.11
R9062:Otop2	UTSW	11	115,323,639 (GRCm38)	missense	probably benign	0.06
R9205:Otop2	UTSW	11	115,329,086 (GRCm38)	missense	probably damaging	1.00
R9524:Otop2	UTSW	11	115,323,677 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCGCAGTGATCCCTTCAAC -3'
(R):5'- AATGAAGCTCCTTCCACCGG -3'

Sequencing Primer
(F):5'- ACCATGTCGGAGGAACTGGTC -3'
(R):5'- GAAGCCCTCCGCCATGTTTG -3'

Posted On

2019-12-04