Mutagenetix > Incidental Mutation

Incidental Mutation 'R1536:Tlr12'

169516

Institutional Source

Beutler Lab

Gene Symbol

Tlr12

Ensembl Gene

ENSMUSG00000062545

Gene Name

toll-like receptor 12

Synonyms

LOC384059, Tlr11

MMRRC Submission

039575-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1536 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128615443-128618619 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128617752 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 235 (L235P)

Ref Sequence

ENSEMBL: ENSMUSP00000074381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074829]

AlphaFold

Q6QNU9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074829
AA Change: L235P

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074381
Gene: ENSMUSG00000062545
AA Change: L235P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	253	266	N/A	INTRINSIC
LRR	291	314	1.67e2	SMART
LRR	315	338	9.24e1	SMART
LRR_TYP	341	364	2.79e-4	SMART
LRR	365	388	4.34e-1	SMART
LRR	389	412	1.37e1	SMART
LRR	413	436	1.71e2	SMART
low complexity region	443	459	N/A	INTRINSIC
low complexity region	494	502	N/A	INTRINSIC
LRR	591	614	5.56e0	SMART
Pfam:TIR	760	905	5.5e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133382

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

98% (59/60)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation exhibit a greatly increased susceptibility to kidney infection by uropathogenic bacteria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,970,665	I3F	probably benign	Het
4930590J08Rik	A	G	6: 91,917,035	N211S	probably benign	Het
A2ml1	A	T	6: 128,547,233	Y1145*	probably null	Het
Abca7	A	G	10: 80,014,230	D1972G	probably benign	Het
Adamts19	A	T	18: 59,052,615	D1187V	probably damaging	Het
Adcy6	G	C	15: 98,600,007	I421M	probably damaging	Het
Afap1	C	A	5: 35,974,491	H387Q	probably damaging	Het
Atp8b1	C	T	18: 64,545,264	V854M	probably damaging	Het
Auts2	C	T	5: 131,487,463		probably benign	Het
Cbll1	T	C	12: 31,487,856	D300G	probably damaging	Het
Cd200r4	A	T	16: 44,833,049	T61S	possibly damaging	Het
Chmp4c	G	T	3: 10,389,684	V207L	probably benign	Het
Cntn5	T	C	9: 9,976,316	T413A	possibly damaging	Het
Cox7a2	T	A	9: 79,758,581		probably null	Het
Cwc27	A	G	13: 104,797,306	L236P	probably damaging	Het
Diaph1	A	G	18: 37,896,093		probably null	Het
Dst	T	A	1: 34,260,372		probably benign	Het
Ear1	T	A	14: 43,819,126	H95L	probably damaging	Het
Enpp1	T	A	10: 24,641,834	H898L	probably benign	Het
Entpd5	G	A	12: 84,382,295	R321*	probably null	Het
Ercc6l2	C	A	13: 63,824,871	N177K	possibly damaging	Het
Ergic1	T	C	17: 26,641,706		probably null	Het
Erich6	A	T	3: 58,626,598	I336N	probably benign	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Galnt3	A	T	2: 66,084,206	D622E	probably damaging	Het
Gjd4	T	A	18: 9,280,569	T170S	probably damaging	Het
Gm5611	G	A	9: 17,030,607		noncoding transcript	Het
Gpc5	T	A	14: 115,399,250	N448K	probably benign	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Man2b2	T	C	5: 36,820,927	T338A	probably benign	Het
Mbtps1	A	T	8: 119,546,125	S94T	probably benign	Het
Muc3a	A	T	5: 137,210,081	S205T	unknown	Het
Nav2	C	A	7: 49,545,934	D1019E	probably damaging	Het
Neurl4	T	A	11: 69,903,426	L236*	probably null	Het
Olfr272	A	G	4: 52,911,260	V178A	probably benign	Het
Plcxd3	T	C	15: 4,516,611		probably benign	Het
Pprc1	T	C	19: 46,071,526		probably benign	Het
Prkaa2	T	A	4: 105,075,450	N67I	probably damaging	Het
Prom1	T	A	5: 44,018,353	Y508F	probably benign	Het
Prx	A	G	7: 27,517,258	M534V	probably damaging	Het
Rps6kc1	C	T	1: 190,871,768	R219Q	possibly damaging	Het
Sbf2	T	C	7: 110,378,043	Y628C	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Spata31	A	T	13: 64,921,382	Q448L	probably damaging	Het
Stk35	T	C	2: 129,811,235		probably benign	Het
Stxbp5	T	A	10: 9,838,092	R234S	probably damaging	Het
Tifab	A	G	13: 56,176,288	V114A	probably benign	Het
Tiprl	A	G	1: 165,228,406	M49T	probably benign	Het
Tmem57	A	G	4: 134,804,507	V617A	probably damaging	Het
Trim43b	A	T	9: 89,085,358	C407*	probably null	Het
Txndc17	C	A	11: 72,207,707	F28L	probably damaging	Het
Vmn2r27	T	C	6: 124,200,690	R452G	probably damaging	Het
Vmn2r3	T	A	3: 64,275,117	D387V	probably damaging	Het
Vps13b	T	C	15: 35,875,566	I2699T	probably damaging	Het
Zfp944	G	T	17: 22,339,716	Y183*	probably null	Het

Other mutations in Tlr12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00568:Tlr12	APN	4	128617422	missense	probably benign	0.00
IGL00654:Tlr12	APN	4	128617440	missense	probably benign	0.27
IGL01290:Tlr12	APN	4	128617837	missense	probably damaging	1.00
IGL01406:Tlr12	APN	4	128616339	nonsense	probably null
IGL01550:Tlr12	APN	4	128615742	missense	probably damaging	1.00
IGL02590:Tlr12	APN	4	128617389	missense	probably benign	0.00
IGL02592:Tlr12	APN	4	128617686	missense	probably benign	0.02
IGL02635:Tlr12	APN	4	128616816	missense	probably damaging	0.98
IGL02714:Tlr12	APN	4	128617713	missense	probably damaging	1.00
IGL03104:Tlr12	APN	4	128615892	missense	probably benign	0.01
IGL03131:Tlr12	APN	4	128615877	missense	probably damaging	1.00
IGL03329:Tlr12	APN	4	128616852	missense	possibly damaging	0.84
IGL03354:Tlr12	APN	4	128615937	missense	probably damaging	1.00
R0848:Tlr12	UTSW	4	128616291	missense	probably benign	0.05
R1807:Tlr12	UTSW	4	128617436	missense	probably benign	0.21
R1989:Tlr12	UTSW	4	128617069	missense	probably benign	0.04
R2905:Tlr12	UTSW	4	128616009	missense	probably damaging	1.00
R3870:Tlr12	UTSW	4	128616568	missense	probably benign	0.00
R4026:Tlr12	UTSW	4	128616508	missense	probably benign	0.00
R4296:Tlr12	UTSW	4	128617788	missense	probably damaging	1.00
R4398:Tlr12	UTSW	4	128616195	missense	probably benign	0.09
R4528:Tlr12	UTSW	4	128618025	missense	probably damaging	1.00
R4559:Tlr12	UTSW	4	128615770	missense	probably damaging	1.00
R4599:Tlr12	UTSW	4	128617332	missense	probably benign	0.06
R4999:Tlr12	UTSW	4	128617680	missense	probably benign	0.38
R5054:Tlr12	UTSW	4	128617270	nonsense	probably null
R5177:Tlr12	UTSW	4	128618376	missense	probably damaging	0.96
R5207:Tlr12	UTSW	4	128616709	nonsense	probably null
R5533:Tlr12	UTSW	4	128615863	missense	probably damaging	0.99
R6484:Tlr12	UTSW	4	128616054	missense	probably damaging	1.00
R6568:Tlr12	UTSW	4	128617992	missense	probably benign	0.10
R6821:Tlr12	UTSW	4	128616892	missense	possibly damaging	0.95
R7465:Tlr12	UTSW	4	128616170	missense	probably damaging	1.00
R7594:Tlr12	UTSW	4	128617680	missense	probably benign	0.38
R7810:Tlr12	UTSW	4	128616708	missense	probably benign	0.00
R7957:Tlr12	UTSW	4	128616690	missense	probably benign	0.33
R8258:Tlr12	UTSW	4	128617699	missense	probably benign	0.38
R8259:Tlr12	UTSW	4	128617699	missense	probably benign	0.38
R8377:Tlr12	UTSW	4	128615773	missense	probably benign
R8422:Tlr12	UTSW	4	128616634	missense	probably damaging	1.00
R9098:Tlr12	UTSW	4	128617077	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTTAGGCCAGTGCTTGAAAGACCC -3'
(R):5'- TGATGCCTTCAGTGACCTGATTTCC -3'

Sequencing Primer
(F):5'- AGCCAGAGCCTCCTGAGATATA -3'
(R):5'- ACGCTCAGTTGCATTCAGG -3'

Posted On

2014-04-13