Mutagenetix > Incidental Mutations

Incidental Mutation 'R0132:Lrrc74b'

21716

Institutional Source

Beutler Lab

Gene Symbol

Lrrc74b

Ensembl Gene

ENSMUSG00000022759

Gene Name

leucine rich repeat containing 74B

Synonyms

4930451C15Rik

MMRRC Submission

038417-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R0132 (G1)

Quality Score

209

Status

Validated (trace)

Chromosome

Chromosomal Location

17544465-17561247 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17553152 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 227 (N227S)

Ref Sequence

ENSEMBL: ENSMUSP00000155867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023442] [ENSMUST00000065125] [ENSMUST00000100123] [ENSMUST00000232637]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023442
AA Change: N227S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023442
Gene: ENSMUSG00000022759
AA Change: N227S

Domain	Start	End	E-Value	Type
LRR	71	103	3.9e0	SMART
LRR	104	131	1.04e-3	SMART
LRR	132	159	1.14e1	SMART
LRR	160	187	7.78e-3	SMART
LRR	188	215	3.9e0	SMART
LRR	216	243	7.89e-1	SMART
LRR	244	271	6.78e-3	SMART
LRR	272	299	5.51e-1	SMART
low complexity region	342	355	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000065125
AA Change: N227S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070127
Gene: ENSMUSG00000022759
AA Change: N227S

Domain	Start	End	E-Value	Type
LRR	71	103	3.9e0	SMART
LRR	104	131	1.04e-3	SMART
LRR	132	159	1.14e1	SMART
LRR	160	187	7.78e-3	SMART
LRR	188	215	3.9e0	SMART
LRR	216	243	7.89e-1	SMART
LRR	244	271	6.78e-3	SMART
LRR	272	299	5.51e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100123
AA Change: N227S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097699
Gene: ENSMUSG00000022759
AA Change: N227S

Domain	Start	End	E-Value	Type
LRR	71	103	3.9e0	SMART
LRR	104	131	1.04e-3	SMART
LRR	132	159	1.14e1	SMART
LRR	160	187	7.78e-3	SMART
LRR	188	215	3.9e0	SMART
LRR	216	243	7.89e-1	SMART
LRR	244	271	6.78e-3	SMART
LRR	272	299	5.51e-1	SMART
LRR	300	327	4.16e0	SMART
low complexity region	374	387	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232230

Predicted Effect

probably damaging
Transcript: ENSMUST00000232637
AA Change: N227S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.4788

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.2%
20x: 84.8%

Validation Efficiency

90% (52/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,137,615	R320G	probably damaging	Het
Abcc12	A	G	8: 86,531,568	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,342,723	I1057N	possibly damaging	Het
Anxa5	G	A	3: 36,450,672	A247V	probably damaging	Het
Ascc3	T	G	10: 50,735,329	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,793,782	P389S	probably damaging	Het
Bpifa6	T	A	2: 153,982,931	S9T	probably benign	Het
Chd8	A	G	14: 52,205,326	V589A	probably benign	Het
Chrnb2	T	C	3: 89,764,406	M1V	probably null	Het
Col16a1	T	A	4: 130,067,096	V449E	unknown	Het
Cttnbp2nl	T	G	3: 105,005,857	K237T	probably damaging	Het
Dazap1	T	G	10: 80,278,226		probably null	Het
Fam187b	T	A	7: 30,989,120	V22E	probably damaging	Het
Gm4788	T	A	1: 139,754,271	T196S	probably damaging	Het
H2-T24	T	A	17: 36,014,986	I238F	probably damaging	Het
Hectd4	A	G	5: 121,333,024	E2658G	probably benign	Het
Herc1	A	C	9: 66,480,910	I3826L	probably benign	Het
Hinfp	A	G	9: 44,299,763	C67R	probably damaging	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Hspg2	T	C	4: 137,551,887	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,926,728	V67A	probably damaging	Het
Iqcc	T	G	4: 129,616,599	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,326,198	T120A	probably damaging	Het
Kitl	C	T	10: 100,087,364	P208S	probably benign	Het
Lpcat4	A	G	2: 112,246,748	Y479C	probably damaging	Het
Mdc1	T	A	17: 35,852,581	V1007D	probably damaging	Het
Mocos	T	G	18: 24,679,762	I571S	probably benign	Het
Myh8	A	G	11: 67,292,188	N659D	probably damaging	Het
Naip2	A	G	13: 100,183,788	V240A	probably benign	Het
Nap1l1	T	C	10: 111,485,509	S37P	probably benign	Het
Nin	T	G	12: 70,051,141	K515T	probably damaging	Het
Npl	T	A	1: 153,509,118	K258*	probably null	Het
Ntn4	T	A	10: 93,644,707	S98T	possibly damaging	Het
Olfr177	C	A	16: 58,872,906	M81I	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr417	T	C	1: 174,369,586	V223A	probably damaging	Het
Ppox	C	A	1: 171,279,275	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,713,653	L1380S	probably benign	Het
Psd4	C	A	2: 24,405,351	A839E	probably damaging	Het
Ptprn2	T	G	12: 116,722,091	F57V	probably damaging	Het
Ptprt	C	T	2: 162,278,110	V146I	probably benign	Het
R3hdm2	T	A	10: 127,498,453	M915K	probably damaging	Het
Rab26	C	T	17: 24,530,785		probably null	Het
Rnf213	A	G	11: 119,430,361	E1215G	probably benign	Het
Rprd2	T	C	3: 95,774,361	K407E	probably damaging	Het
Siah3	G	A	14: 75,456,134	V27I	possibly damaging	Het
Slc14a2	T	A	18: 78,192,123	N280Y	probably damaging	Het
Slc25a35	A	G	11: 68,971,960	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,705,530	D55G	probably benign	Het
Slc35d1	C	T	4: 103,208,181	V189I	probably benign	Het
Srrm1	G	A	4: 135,340,573	R322*	probably null	Het
Stac3	A	T	10: 127,503,650	R138S	probably damaging	Het
Tmem260	T	A	14: 48,483,322	C306*	probably null	Het
Tspyl1	A	G	10: 34,283,089	N270S	probably damaging	Het
Ugt2a2	T	A	5: 87,474,861	K293*	probably null	Het
Vmn2r102	A	C	17: 19,678,763	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,712,249	S139R	probably benign	Het
Zmym2	A	G	14: 56,943,258	N876D	probably benign	Het

Other mutations in Lrrc74b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01810:Lrrc74b	APN	16	17545558	missense	probably benign	0.00
IGL02402:Lrrc74b	APN	16	17558164	splice site	probably benign
P0043:Lrrc74b	UTSW	16	17558159	splice site	probably benign
R0131:Lrrc74b	UTSW	16	17553152	missense	probably damaging	1.00
R0131:Lrrc74b	UTSW	16	17553152	missense	probably damaging	1.00
R0829:Lrrc74b	UTSW	16	17558390	splice site	probably benign
R1463:Lrrc74b	UTSW	16	17559873	missense	probably benign	0.00
R1681:Lrrc74b	UTSW	16	17559753	missense	probably damaging	1.00
R1938:Lrrc74b	UTSW	16	17553194	missense	probably benign	0.41
R4790:Lrrc74b	UTSW	16	17549853	missense	probably damaging	1.00
R5428:Lrrc74b	UTSW	16	17558261	missense	probably damaging	0.99
R6198:Lrrc74b	UTSW	16	17548786	missense	probably damaging	0.96
R7910:Lrrc74b	UTSW	16	17558349	nonsense	probably null
R7991:Lrrc74b	UTSW	16	17558349	nonsense	probably null
X0063:Lrrc74b	UTSW	16	17553208	missense	probably benign	0.05
Z1177:Lrrc74b	UTSW	16	17558168	critical splice donor site	probably null
Z1177:Lrrc74b	UTSW	16	17558172	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAAACAGTGATGCCACCAGATG -3'
(R):5'- ACTACTGAAGTTCTGGCGCACG -3'

Sequencing Primer
(F):5'- ATCTGTGGACCCCTTAGGAAATG -3'
(R):5'- CGGTGAGCATTACATCACTTTTTG -3'

Posted On

2013-04-11