Mutagenetix > Incidental Mutation

Incidental Mutation 'R2005:Mroh2b'

225428

Institutional Source

Beutler Lab

Gene Symbol

Mroh2b

Ensembl Gene

ENSMUSG00000022155

Gene Name

maestro heat-like repeat family member 2B

Synonyms

4930455B06Rik, Heatr7b2

MMRRC Submission

040014-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R2005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4898737-4962205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4917158 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 480 (K480M)

Ref Sequence

ENSEMBL: ENSMUSP00000036148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045736]

AlphaFold

Q7M6Y6

Predicted Effect

probably damaging
Transcript: ENSMUST00000045736
AA Change: K480M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036148
Gene: ENSMUSG00000022155
AA Change: K480M

Domain	Start	End	E-Value	Type
low complexity region	124	135	N/A	INTRINSIC
low complexity region	824	842	N/A	INTRINSIC
SCOP:d1gw5a_	937	1443	7e-15	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,877,827 (GRCm38)	A961V	probably benign	Het
Adcy10	A	G	1: 165,525,022 (GRCm38)	Y475C	probably benign	Het
Adgrb3	T	C	1: 25,111,718 (GRCm38)	M1145V	probably benign	Het
Akr1c21	A	G	13: 4,574,215 (GRCm38)	T23A	probably damaging	Het
Ankrd33b	A	T	15: 31,297,668 (GRCm38)	S314R	probably damaging	Het
Apc	T	C	18: 34,310,909 (GRCm38)		probably null	Het
Atg9a	T	A	1: 75,185,991 (GRCm38)	Q460L	probably benign	Het
Birc3	C	T	9: 7,860,341 (GRCm38)	C292Y	probably damaging	Het
Capn5	T	C	7: 98,129,363 (GRCm38)	I350V	probably benign	Het
Cc2d2a	G	A	5: 43,726,373 (GRCm38)		probably null	Het
Cdh22	T	A	2: 165,180,923 (GRCm38)	E76V	probably damaging	Het
Cdh8	T	C	8: 99,033,471 (GRCm38)		probably null	Het
Cdkn1b	ATTCTTCTTC	ATTCTTCTTCTTC	6: 134,921,956 (GRCm38)		probably benign	Het
Cfap54	T	A	10: 92,884,768 (GRCm38)	D2608V	unknown	Het
Crebrf	T	C	17: 26,742,883 (GRCm38)	V318A	possibly damaging	Het
Cwf19l2	A	T	9: 3,430,720 (GRCm38)	N351Y	possibly damaging	Het
Cyp2c67	A	T	19: 39,643,345 (GRCm38)	M136K	probably damaging	Het
Ddx10	A	G	9: 53,240,475 (GRCm38)		probably null	Het
Ddx47	A	G	6: 135,018,121 (GRCm38)	N92S	probably benign	Het
Ddx50	T	A	10: 62,640,464 (GRCm38)	H306L	probably benign	Het
Dnajc27	A	G	12: 4,097,317 (GRCm38)	T167A	possibly damaging	Het
Dscam	T	G	16: 97,038,920 (GRCm38)	K162N	probably benign	Het
Eif4h	G	A	5: 134,627,677 (GRCm38)	T53I	probably benign	Het
Elmo2	T	C	2: 165,298,279 (GRCm38)	N332S	probably benign	Het
Ergic3	A	G	2: 156,011,108 (GRCm38)	N157S	possibly damaging	Het
F2rl1	G	T	13: 95,513,274 (GRCm38)	R367S	probably damaging	Het
Fbxo36	G	A	1: 84,900,069 (GRCm38)	A151T	probably benign	Het
Foxf2	G	T	13: 31,626,141 (GRCm38)	R21L	unknown	Het
Gmip	T	A	8: 69,814,043 (GRCm38)	H269Q	probably benign	Het
Gng4	T	A	13: 13,806,166 (GRCm38)	V32E	probably benign	Het
Grm3	T	C	5: 9,589,793 (GRCm38)	Y84C	possibly damaging	Het
Helz2	C	T	2: 181,231,329 (GRCm38)	R2396H	probably benign	Het
Icosl	A	T	10: 78,071,953 (GRCm38)	M116L	possibly damaging	Het
Itgb3bp	A	C	4: 99,814,058 (GRCm38)	N16K	probably benign	Het
Kcnt2	A	G	1: 140,553,018 (GRCm38)	M824V	probably damaging	Het
Mki67	T	A	7: 135,698,509 (GRCm38)	K1599*	probably null	Het
Mmp25	G	A	17: 23,640,242 (GRCm38)	R144W	probably damaging	Het
Mmrn1	A	T	6: 60,976,084 (GRCm38)	I450F	possibly damaging	Het
Nbn	T	A	4: 15,979,351 (GRCm38)	D445E	probably benign	Het
Npbwr1	T	A	1: 5,916,351 (GRCm38)	S315C	probably damaging	Het
Olfr1118	T	A	2: 87,309,448 (GRCm38)	S240T	probably benign	Het
Olfr1166	A	G	2: 88,124,547 (GRCm38)	L146P	probably damaging	Het
Olfr378	A	T	11: 73,425,239 (GRCm38)	V248E	probably damaging	Het
Olfr828	G	A	9: 18,815,505 (GRCm38)	S263L	probably benign	Het
Pard3b	A	T	1: 62,144,891 (GRCm38)	E183D	probably benign	Het
Pde10a	G	A	17: 8,929,091 (GRCm38)		probably null	Het
Pdlim2	C	T	14: 70,164,779 (GRCm38)	R296H	probably damaging	Het
Prdm13	T	C	4: 21,685,695 (GRCm38)		probably benign	Het
Rc3h2	T	A	2: 37,389,753 (GRCm38)	K461*	probably null	Het
Reep2	C	T	18: 34,845,621 (GRCm38)	T117M	probably damaging	Het
Rhbdd1	A	G	1: 82,340,810 (GRCm38)	N138S	probably benign	Het
Rnf19a	A	T	15: 36,241,770 (GRCm38)	F708I	possibly damaging	Het
Robo2	G	A	16: 73,933,115 (GRCm38)	H1069Y	possibly damaging	Het
Rpl9	C	T	5: 65,389,535 (GRCm38)	V112I	probably benign	Het
Sec16a	A	C	2: 26,439,080 (GRCm38)	S974R	probably benign	Het
Sfrp5	A	G	19: 42,198,836 (GRCm38)	M265T	probably benign	Het
Skint7	T	C	4: 111,984,850 (GRCm38)	I305T	probably benign	Het
Slc6a7	T	C	18: 61,001,641 (GRCm38)	D454G	possibly damaging	Het
Slco6c1	A	G	1: 97,081,489 (GRCm38)	I407T	probably damaging	Het
Slfn8	A	T	11: 83,004,150 (GRCm38)	M610K	probably damaging	Het
Spidr	A	G	16: 16,048,049 (GRCm38)	S299P	probably damaging	Het
Sptbn4	C	T	7: 27,366,419 (GRCm38)	W2034*	probably null	Het
Stard9	C	A	2: 120,673,636 (GRCm38)	S221R	probably damaging	Het
Stard9	T	A	2: 120,664,945 (GRCm38)	F100L	possibly damaging	Het
Stc1	T	C	14: 69,031,647 (GRCm38)		probably null	Het
Sun2	T	C	15: 79,726,624 (GRCm38)	E667G	possibly damaging	Het
Tacc2	T	C	7: 130,731,550 (GRCm38)	S511P	probably damaging	Het
Tasp1	T	G	2: 139,977,678 (GRCm38)	K202Q	probably damaging	Het
Tdrd6	A	G	17: 43,628,655 (GRCm38)	F501L	probably damaging	Het
Tgds	A	G	14: 118,130,656 (GRCm38)	V35A	possibly damaging	Het
Tubgcp6	G	A	15: 89,104,166 (GRCm38)	T860I	probably benign	Het
Twf1	C	T	15: 94,585,447 (GRCm38)		probably null	Het
Vangl1	A	G	3: 102,163,466 (GRCm38)	S385P	probably benign	Het
Vmn2r117	A	G	17: 23,477,644 (GRCm38)	I263T	probably damaging	Het
Washc5	A	G	15: 59,341,155 (GRCm38)	L892P	possibly damaging	Het
Wnk4	T	C	11: 101,263,890 (GRCm38)	C302R	probably damaging	Het
Zfp395	A	G	14: 65,388,885 (GRCm38)	E191G	possibly damaging	Het
Zkscan17	A	G	11: 59,492,216 (GRCm38)	L302P	probably damaging	Het

Other mutations in Mroh2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Mroh2b	APN	15	4,899,197 (GRCm38)	missense	probably benign
IGL00507:Mroh2b	APN	15	4,962,127 (GRCm38)	missense	probably damaging	1.00
IGL00548:Mroh2b	APN	15	4,931,316 (GRCm38)	missense	probably benign	0.35
IGL00902:Mroh2b	APN	15	4,915,222 (GRCm38)	missense	probably damaging	1.00
IGL00944:Mroh2b	APN	15	4,951,127 (GRCm38)	splice site	probably benign
IGL00954:Mroh2b	APN	15	4,903,054 (GRCm38)	missense	probably damaging	0.99
IGL01015:Mroh2b	APN	15	4,941,542 (GRCm38)	missense	probably damaging	1.00
IGL01134:Mroh2b	APN	15	4,915,152 (GRCm38)	missense	probably benign	0.00
IGL01337:Mroh2b	APN	15	4,905,024 (GRCm38)	missense	probably benign	0.38
IGL01780:Mroh2b	APN	15	4,912,000 (GRCm38)	missense	probably benign	0.01
IGL01919:Mroh2b	APN	15	4,923,688 (GRCm38)	missense	probably benign	0.10
IGL02069:Mroh2b	APN	15	4,904,324 (GRCm38)	splice site	probably benign
IGL02146:Mroh2b	APN	15	4,951,294 (GRCm38)	splice site	probably null
IGL02221:Mroh2b	APN	15	4,923,641 (GRCm38)	missense	probably damaging	1.00
IGL02281:Mroh2b	APN	15	4,952,263 (GRCm38)	missense	probably benign	0.04
IGL02350:Mroh2b	APN	15	4,912,000 (GRCm38)	missense	probably benign	0.01
IGL02357:Mroh2b	APN	15	4,912,000 (GRCm38)	missense	probably benign	0.01
IGL02401:Mroh2b	APN	15	4,900,501 (GRCm38)	missense	possibly damaging	0.71
IGL02427:Mroh2b	APN	15	4,951,560 (GRCm38)	splice site	probably benign
IGL02432:Mroh2b	APN	15	4,914,186 (GRCm38)	missense	probably benign
IGL02582:Mroh2b	APN	15	4,908,515 (GRCm38)	missense	probably damaging	0.98
IGL02632:Mroh2b	APN	15	4,931,101 (GRCm38)	missense	probably damaging	0.99
IGL02741:Mroh2b	APN	15	4,905,632 (GRCm38)	missense	probably benign
IGL02811:Mroh2b	APN	15	4,915,236 (GRCm38)	missense	possibly damaging	0.55
IGL02826:Mroh2b	APN	15	4,962,148 (GRCm38)	missense	probably damaging	0.99
IGL03412:Mroh2b	APN	15	4,944,372 (GRCm38)	missense	probably benign	0.14
PIT4468001:Mroh2b	UTSW	15	4,912,812 (GRCm38)	missense	probably damaging	1.00
R0024:Mroh2b	UTSW	15	4,925,627 (GRCm38)	missense	probably damaging	1.00
R0333:Mroh2b	UTSW	15	4,931,118 (GRCm38)	missense	probably damaging	1.00
R0433:Mroh2b	UTSW	15	4,941,634 (GRCm38)	missense	probably benign	0.01
R0530:Mroh2b	UTSW	15	4,934,395 (GRCm38)	missense	probably damaging	0.97
R1411:Mroh2b	UTSW	15	4,918,317 (GRCm38)	missense	probably damaging	1.00
R1457:Mroh2b	UTSW	15	4,925,684 (GRCm38)	missense	probably damaging	1.00
R1466:Mroh2b	UTSW	15	4,925,684 (GRCm38)	missense	probably damaging	1.00
R1466:Mroh2b	UTSW	15	4,925,684 (GRCm38)	missense	probably damaging	1.00
R1472:Mroh2b	UTSW	15	4,948,655 (GRCm38)	missense	probably benign	0.00
R1525:Mroh2b	UTSW	15	4,951,130 (GRCm38)	splice site	probably null
R1584:Mroh2b	UTSW	15	4,925,684 (GRCm38)	missense	probably damaging	1.00
R1605:Mroh2b	UTSW	15	4,945,090 (GRCm38)	missense	probably benign	0.08
R1657:Mroh2b	UTSW	15	4,931,043 (GRCm38)	nonsense	probably null
R1671:Mroh2b	UTSW	15	4,951,294 (GRCm38)	splice site	probably null
R1698:Mroh2b	UTSW	15	4,914,140 (GRCm38)	missense	probably benign	0.02
R2002:Mroh2b	UTSW	15	4,925,684 (GRCm38)	missense	probably damaging	1.00
R2077:Mroh2b	UTSW	15	4,944,966 (GRCm38)	missense	probably damaging	1.00
R2179:Mroh2b	UTSW	15	4,921,446 (GRCm38)	critical splice donor site	probably null
R2183:Mroh2b	UTSW	15	4,918,225 (GRCm38)	splice site	probably null
R3713:Mroh2b	UTSW	15	4,943,649 (GRCm38)	missense	probably benign	0.01
R3714:Mroh2b	UTSW	15	4,943,649 (GRCm38)	missense	probably benign	0.01
R3747:Mroh2b	UTSW	15	4,952,246 (GRCm38)	nonsense	probably null
R3748:Mroh2b	UTSW	15	4,952,246 (GRCm38)	nonsense	probably null
R3749:Mroh2b	UTSW	15	4,952,246 (GRCm38)	nonsense	probably null
R3750:Mroh2b	UTSW	15	4,952,246 (GRCm38)	nonsense	probably null
R3792:Mroh2b	UTSW	15	4,923,620 (GRCm38)	missense	probably damaging	1.00
R3872:Mroh2b	UTSW	15	4,925,061 (GRCm38)	nonsense	probably null
R4021:Mroh2b	UTSW	15	4,925,100 (GRCm38)	missense	possibly damaging	0.75
R4329:Mroh2b	UTSW	15	4,931,379 (GRCm38)	missense	probably damaging	0.99
R4456:Mroh2b	UTSW	15	4,947,925 (GRCm38)	missense	probably benign	0.21
R4592:Mroh2b	UTSW	15	4,918,290 (GRCm38)	missense	probably damaging	1.00
R4836:Mroh2b	UTSW	15	4,904,270 (GRCm38)	missense	probably damaging	1.00
R5050:Mroh2b	UTSW	15	4,900,450 (GRCm38)	missense	possibly damaging	0.82
R5230:Mroh2b	UTSW	15	4,941,522 (GRCm38)	missense	probably benign	0.07
R5342:Mroh2b	UTSW	15	4,914,133 (GRCm38)	nonsense	probably null
R5353:Mroh2b	UTSW	15	4,917,178 (GRCm38)	missense	probably damaging	1.00
R5368:Mroh2b	UTSW	15	4,905,572 (GRCm38)	missense	probably damaging	1.00
R5424:Mroh2b	UTSW	15	4,941,612 (GRCm38)	missense	probably damaging	0.98
R5484:Mroh2b	UTSW	15	4,908,981 (GRCm38)	missense	possibly damaging	0.92
R5999:Mroh2b	UTSW	15	4,912,884 (GRCm38)	splice site	probably null
R6046:Mroh2b	UTSW	15	4,951,281 (GRCm38)	missense	probably benign	0.01
R6081:Mroh2b	UTSW	15	4,944,377 (GRCm38)	missense	probably damaging	1.00
R6162:Mroh2b	UTSW	15	4,915,225 (GRCm38)	missense	probably damaging	1.00
R6165:Mroh2b	UTSW	15	4,918,350 (GRCm38)	missense	probably benign	0.23
R6240:Mroh2b	UTSW	15	4,934,644 (GRCm38)	missense	probably benign	0.38
R6487:Mroh2b	UTSW	15	4,947,239 (GRCm38)	missense	probably damaging	1.00
R6539:Mroh2b	UTSW	15	4,905,574 (GRCm38)	missense	probably damaging	1.00
R6616:Mroh2b	UTSW	15	4,953,282 (GRCm38)	missense	probably benign	0.36
R6663:Mroh2b	UTSW	15	4,947,935 (GRCm38)	missense	probably benign	0.21
R6820:Mroh2b	UTSW	15	4,953,274 (GRCm38)	missense	probably damaging	1.00
R6900:Mroh2b	UTSW	15	4,908,987 (GRCm38)	missense	probably benign	0.00
R6990:Mroh2b	UTSW	15	4,912,802 (GRCm38)	missense	possibly damaging	0.55
R7067:Mroh2b	UTSW	15	4,900,504 (GRCm38)	missense	probably benign	0.35
R7092:Mroh2b	UTSW	15	4,934,678 (GRCm38)	missense	possibly damaging	0.92
R7102:Mroh2b	UTSW	15	4,948,003 (GRCm38)	missense	probably benign	0.06
R7264:Mroh2b	UTSW	15	4,921,362 (GRCm38)	missense	possibly damaging	0.81
R7436:Mroh2b	UTSW	15	4,941,554 (GRCm38)	missense	probably benign	0.21
R7462:Mroh2b	UTSW	15	4,908,627 (GRCm38)	missense	probably damaging	1.00
R7529:Mroh2b	UTSW	15	4,949,009 (GRCm38)	missense	probably damaging	1.00
R7575:Mroh2b	UTSW	15	4,934,605 (GRCm38)	missense	probably damaging	1.00
R7579:Mroh2b	UTSW	15	4,931,061 (GRCm38)	missense	probably benign	0.09
R7605:Mroh2b	UTSW	15	4,945,023 (GRCm38)	missense	probably damaging	1.00
R7624:Mroh2b	UTSW	15	4,917,131 (GRCm38)	missense	probably damaging	1.00
R7797:Mroh2b	UTSW	15	4,949,105 (GRCm38)	missense	probably benign	0.36
R7848:Mroh2b	UTSW	15	4,938,379 (GRCm38)	nonsense	probably null
R7952:Mroh2b	UTSW	15	4,951,211 (GRCm38)	missense	probably damaging	1.00
R7995:Mroh2b	UTSW	15	4,921,357 (GRCm38)	nonsense	probably null
R8088:Mroh2b	UTSW	15	4,900,503 (GRCm38)	missense	possibly damaging	0.57
R8207:Mroh2b	UTSW	15	4,938,410 (GRCm38)	missense	possibly damaging	0.95
R8242:Mroh2b	UTSW	15	4,909,040 (GRCm38)	missense	probably benign	0.04
R8248:Mroh2b	UTSW	15	4,931,104 (GRCm38)	missense	probably benign	0.40
R8258:Mroh2b	UTSW	15	4,911,909 (GRCm38)	missense	probably benign	0.01
R8259:Mroh2b	UTSW	15	4,911,909 (GRCm38)	missense	probably benign	0.01
R8304:Mroh2b	UTSW	15	4,925,637 (GRCm38)	missense	probably damaging	0.99
R8316:Mroh2b	UTSW	15	4,951,264 (GRCm38)	nonsense	probably null
R8345:Mroh2b	UTSW	15	4,944,326 (GRCm38)	missense	probably benign	0.09
R8507:Mroh2b	UTSW	15	4,949,090 (GRCm38)	missense	probably damaging	1.00
R8728:Mroh2b	UTSW	15	4,905,640 (GRCm38)	missense	probably damaging	1.00
R8747:Mroh2b	UTSW	15	4,935,300 (GRCm38)	missense	probably damaging	0.99
R8798:Mroh2b	UTSW	15	4,948,709 (GRCm38)	missense	probably damaging	1.00
R8814:Mroh2b	UTSW	15	4,941,625 (GRCm38)	missense	possibly damaging	0.61
R8856:Mroh2b	UTSW	15	4,931,028 (GRCm38)	nonsense	probably null
R8910:Mroh2b	UTSW	15	4,931,373 (GRCm38)	missense	probably benign	0.01
R8913:Mroh2b	UTSW	15	4,917,528 (GRCm38)	intron	probably benign
R8941:Mroh2b	UTSW	15	4,962,124 (GRCm38)	missense	possibly damaging	0.86
R9014:Mroh2b	UTSW	15	4,899,188 (GRCm38)	start codon destroyed	probably null	0.95
R9086:Mroh2b	UTSW	15	4,953,272 (GRCm38)	critical splice acceptor site	probably null
R9101:Mroh2b	UTSW	15	4,900,453 (GRCm38)	missense	probably benign	0.20
R9118:Mroh2b	UTSW	15	4,962,091 (GRCm38)	missense	possibly damaging	0.86
R9393:Mroh2b	UTSW	15	4,951,184 (GRCm38)	missense	probably benign
R9429:Mroh2b	UTSW	15	4,934,425 (GRCm38)	missense	probably damaging	1.00
R9431:Mroh2b	UTSW	15	4,934,470 (GRCm38)	missense	probably damaging	1.00
R9443:Mroh2b	UTSW	15	4,944,339 (GRCm38)	missense	probably damaging	1.00
R9447:Mroh2b	UTSW	15	4,931,341 (GRCm38)	missense	probably damaging	1.00
R9497:Mroh2b	UTSW	15	4,921,363 (GRCm38)	missense	probably damaging	0.98
R9588:Mroh2b	UTSW	15	4,948,648 (GRCm38)	missense	probably benign	0.00
R9631:Mroh2b	UTSW	15	4,917,074 (GRCm38)	missense	probably damaging	0.97
R9686:Mroh2b	UTSW	15	4,945,123 (GRCm38)	missense	probably benign	0.34
R9774:Mroh2b	UTSW	15	4,914,131 (GRCm38)	missense	probably benign	0.08
X0067:Mroh2b	UTSW	15	4,951,591 (GRCm38)	missense	possibly damaging	0.90
Z1177:Mroh2b	UTSW	15	4,905,005 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACTGACACACAAAAGAGGAGATTC -3'
(R):5'- GTAATTTTCACCATCACCGCAG -3'

Sequencing Primer
(F):5'- ACACACAAAAGAGGAGATTCTAAAAC -3'
(R):5'- CAAAGTGTGGTTGGTAGC -3'

Posted On

2014-08-25