Mutagenetix > Incidental Mutation

Incidental Mutation 'R1698:Mroh2b'

192447

Institutional Source

Beutler Lab

Gene Symbol

Mroh2b

Ensembl Gene

ENSMUSG00000022155

Gene Name

maestro heat-like repeat family member 2B

Synonyms

4930455B06Rik, Heatr7b2

MMRRC Submission

039731-MU

Accession Numbers

Essential gene?

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

Stock #

R1698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4898737-4962205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4914140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 386 (R386Q)

Ref Sequence

ENSEMBL: ENSMUSP00000036148 (fasta)

Gene Model

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

AlphaFold

Q7M6Y6

Predicted Effect

probably benign
Transcript: ENSMUST00000045736
AA Change: R386Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000036148
Gene: ENSMUSG00000022155
AA Change: R386Q

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	C	6: 121,645,158	E340A	possibly damaging	Het
Abca13	A	G	11: 9,314,507	D2963G	probably benign	Het
Actn3	T	C	19: 4,862,207	D783G	possibly damaging	Het
Adamtsl2	A	G	2: 27,103,127	E723G	possibly damaging	Het
Agrn	G	T	4: 156,166,558	Q1931K	probably benign	Het
Ankrd27	G	A	7: 35,614,521	A426T	probably benign	Het
Atg9b	C	A	5: 24,388,188	G406C	probably damaging	Het
BC005561	C	T	5: 104,520,510	A966V	probably benign	Het
C1ra	A	T	6: 124,522,766	Q637L	probably benign	Het
Cdhr2	A	T	13: 54,719,581	M438L	probably benign	Het
Cep350	T	C	1: 155,953,358	I267V	possibly damaging	Het
Chrna5	A	G	9: 55,004,642	Y138C	probably damaging	Het
Chst3	T	A	10: 60,185,703	M441L	probably benign	Het
Cmya5	G	A	13: 93,063,519	P3434S	probably benign	Het
Cog2	T	A	8: 124,525,683	L42Q	probably damaging	Het
Cpq	A	T	15: 33,250,126	I210F	probably benign	Het
Crnn	C	A	3: 93,148,458	Q184K	probably damaging	Het
Csnka2ip	A	T	16: 64,478,059	Y647*	probably null	Het
D5Ertd579e	C	T	5: 36,604,530	R1331H	probably benign	Het
Dennd5a	C	T	7: 109,917,380		probably null	Het
Dync1h1	A	G	12: 110,626,992	Q1231R	possibly damaging	Het
Erbin	T	A	13: 103,833,731	I1126F	possibly damaging	Het
Fastkd1	T	C	2: 69,702,469	D518G	probably benign	Het
Gcc1	A	G	6: 28,421,111	L69P	possibly damaging	Het
Gkn1	T	C	6: 87,347,169	Y119C	probably damaging	Het
Gmpr	T	G	13: 45,517,044	W81G	probably benign	Het
Gyg	T	A	3: 20,138,051	I236F	probably benign	Het
Hcrtr2	T	C	9: 76,246,453	Y219C	probably damaging	Het
Hmcn1	G	A	1: 150,565,369	Q5379*	probably null	Het
Kank1	T	C	19: 25,411,317	C785R	probably benign	Het
Lrp1b	A	T	2: 40,851,806	C3036*	probably null	Het
Mdga2	T	C	12: 66,689,335	D373G	probably damaging	Het
Mgat2	A	T	12: 69,185,719	I356F	probably benign	Het
Miga2	A	G	2: 30,377,997	D346G	probably damaging	Het
Mprip	T	A	11: 59,760,258	L1596Q	possibly damaging	Het
Mst1r	T	A	9: 107,919,980	S1349R	probably benign	Het
Mtmr3	C	T	11: 4,492,825	R403H	possibly damaging	Het
Mycbpap	G	A	11: 94,508,143	Q460*	probably null	Het
Myo9a	T	C	9: 59,868,181	V1025A	probably benign	Het
Ncapd2	C	T	6: 125,168,590	E1365K	probably null	Het
Nkiras2	C	A	11: 100,625,163	D105E	probably damaging	Het
Nolc1	T	G	19: 46,081,431		probably null	Het
Nos1	T	C	5: 117,867,232	F6L	probably benign	Het
Olfr1112	G	T	2: 87,191,737	V17L	probably benign	Het
Olfr1278	T	A	2: 111,292,560	C97*	probably null	Het
Olfr1369-ps1	C	T	13: 21,116,565	T291I	probably benign	Het
Olfr218	A	T	1: 173,203,371	N5I	probably damaging	Het
Olfr325	T	C	11: 58,581,251	Y136H	probably damaging	Het
Olfr910	T	A	9: 38,539,256	Y120*	probably null	Het
Pfkm	A	G	15: 98,128,318	E598G	possibly damaging	Het
Phf2	A	T	13: 48,807,630	D861E	unknown	Het
Polr2a	A	G	11: 69,739,877		probably null	Het
Popdc2	G	A	16: 38,369,491	V167M	probably damaging	Het
Ptpn22	T	C	3: 103,885,798	S422P	probably benign	Het
Rasa2	T	C	9: 96,568,375	K490R	possibly damaging	Het
Rbfox3	T	A	11: 118,495,221	D286V	probably damaging	Het
Rdh13	A	G	7: 4,427,791	W223R	probably damaging	Het
Riok3	T	C	18: 12,128,929	S7P	probably benign	Het
Rnaseh2b	A	G	14: 62,353,632	E144G	probably benign	Het
Rnf20	C	T	4: 49,651,498	Q655*	probably null	Het
Rpap2	T	C	5: 107,603,550	Y8H	probably damaging	Het
Slc5a10	T	C	11: 61,709,602	Y181C	probably benign	Het
Snd1	G	T	6: 28,888,253	G896*	probably null	Het
Spast	C	T	17: 74,356,160	Q158*	probably null	Het
Tas2r104	G	A	6: 131,685,584	S54F	probably damaging	Het
Tcaf2	C	T	6: 42,628,017	W611*	probably null	Het
Timp4	G	A	6: 115,250,403		probably null	Het
Tmem45a	G	A	16: 56,823,570	S72L	probably benign	Het
Tnrc18	T	C	5: 142,788,703	T124A	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Ttn	T	C	2: 76,942,915	D2381G	probably damaging	Het
Uevld	T	C	7: 46,955,624	T41A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc5d	T	C	8: 28,696,478	E527G	probably damaging	Het
Vmn2r125	C	T	4: 156,351,038	T237I	probably benign	Het
Vmn2r63	A	C	7: 42,933,614	I59S	probably benign	Het
Vps72	G	A	3: 95,118,695	S106N	probably benign	Het
Zan	A	C	5: 137,409,669		probably benign	Het
Zbtb38	T	C	9: 96,685,462	K1190E	probably benign	Het
Zc3h6	T	C	2: 129,017,358	V1103A	probably benign	Het
Zfp407	G	A	18: 84,562,157	T277I	probably damaging	Het
Zfp804b	A	G	5: 6,769,509	S1149P	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
R2002:Mroh2b	UTSW	15	4,925,684 (GRCm38)	missense	probably damaging	1.00
R2005:Mroh2b	UTSW	15	4,917,158 (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'- GTTCCCACCTCTGGATGTTCCAAAG -3'
(R):5'- TGTTTAGAAGCTGCCCAGCTCAAG -3'

Sequencing Primer
(F):5'- AAGGAAGTCCACCCTTCTTCTC -3'
(R):5'- catttttgcgtttgtggctc -3'

Posted On

2014-05-14