Mutagenetix > Incidental Mutation

Incidental Mutation 'R4715:Gucy1b2'

353980

Institutional Source

Beutler Lab

Gene Symbol

Gucy1b2

Ensembl Gene

ENSMUSG00000021933

Gene Name

guanylate cyclase 1, soluble, beta 2

Synonyms

MMRRC Submission

041982-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

R4715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62392676-62456289 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62423017 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 140 (V140A)

Ref Sequence

ENSEMBL: ENSMUSP00000128114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022501] [ENSMUST00000128573] [ENSMUST00000165651]

AlphaFold

Q8BXH3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022501
AA Change: V140A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022501
Gene: ENSMUSG00000021933
AA Change: V140A

Domain	Start	End	E-Value	Type
Pfam:HNOB	83	244	6e-60	PFAM
Blast:CYCc	263	362	3e-24	BLAST
PDB:4GJ4\|D	350	471	4e-8	PDB
CYCc	513	712	1.11e-108	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128573

SMART Domains

Protein: ENSMUSP00000120329
Gene: ENSMUSG00000021933

Domain	Start	End	E-Value	Type
Pfam:HNOB	1	167	1.5e-54	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165651
AA Change: V140A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128114
Gene: ENSMUSG00000021933
AA Change: V140A

Domain	Start	End	E-Value	Type
Pfam:HNOB	82	250	1.1e-53	PFAM
Blast:CYCc	263	347	6e-25	BLAST
PDB:4GJ4\|D	335	456	5e-8	PDB
CYCc	498	697	1.11e-108	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

92% (86/93)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit a normal hyperventilation response to a 10% oxygen environment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	C	19: 43,816,882 (GRCm38)	E725A	possibly damaging	Het
Abcc5	G	T	16: 20,398,876 (GRCm38)	L362I	probably damaging	Het
Ammecr1l	C	T	18: 31,774,653 (GRCm38)	R179*	probably null	Het
Arap2	G	T	5: 62,749,094 (GRCm38)	T194K	probably benign	Het
Atf2	C	A	2: 73,823,300 (GRCm38)	V282F	probably damaging	Het
Atp1a1	T	C	3: 101,591,806 (GRCm38)	E159G	possibly damaging	Het
B4galt2	T	C	4: 117,877,179 (GRCm38)	S258G	possibly damaging	Het
Bptf	G	T	11: 107,047,181 (GRCm38)	H2695N	probably damaging	Het
Casq2	T	C	3: 102,110,244 (GRCm38)	V80A	probably benign	Het
Ccdc130	A	G	8: 84,263,874 (GRCm38)	I43T	probably damaging	Het
Cdc42ep3	G	A	17: 79,335,458 (GRCm38)	A11V	probably benign	Het
Cdh4	A	T	2: 179,780,467 (GRCm38)	H128L	probably benign	Het
Cdk5rap1	C	A	2: 154,361,835 (GRCm38)	*191L	probably null	Het
Cfdp1	G	A	8: 111,830,891 (GRCm38)	T206I	probably benign	Het
Cgn	C	A	3: 94,779,438 (GRCm38)	G185W	probably damaging	Het
Clpx	A	C	9: 65,312,114 (GRCm38)	R231S	possibly damaging	Het
Copg1	T	A	6: 87,912,286 (GRCm38)	L870*	probably null	Het
Cyp4a10	A	T	4: 115,525,338 (GRCm38)	D275V	probably benign	Het
Dip2a	T	C	10: 76,296,406 (GRCm38)	T504A	probably benign	Het
Dmxl2	A	C	9: 54,446,405 (GRCm38)		probably null	Het
Dnaaf5	A	T	5: 139,178,000 (GRCm38)	I671F	probably damaging	Het
Dnah14	A	G	1: 181,757,223 (GRCm38)	D3173G	probably damaging	Het
Dock2	T	C	11: 34,294,118 (GRCm38)	Y1074C	probably damaging	Het
Dthd1	A	C	5: 62,888,187 (GRCm38)	M765L	probably benign	Het
E2f3	A	C	13: 29,911,275 (GRCm38)	C220W	probably damaging	Het
Elf3	C	T	1: 135,257,752 (GRCm38)	S8N	probably damaging	Het
F2rl1	A	T	13: 95,513,267 (GRCm38)	V369E	probably damaging	Het
Fam214a	T	A	9: 75,012,968 (GRCm38)	W799R	probably damaging	Het
Fpr-rs7	C	T	17: 20,113,428 (GRCm38)	G267R	probably benign	Het
Ggact	A	T	14: 122,891,635 (GRCm38)	L56Q	possibly damaging	Het
Gm10698	A	T	9: 33,728,488 (GRCm38)		noncoding transcript	Het
Gm5546	T	C	3: 104,366,508 (GRCm38)		noncoding transcript	Het
Gm8267	A	G	14: 44,717,835 (GRCm38)	V243A	probably benign	Het
Gtf2h1	A	G	7: 46,815,412 (GRCm38)	T424A	possibly damaging	Het
Htatip2	T	C	7: 49,770,844 (GRCm38)	L146P	probably damaging	Het
Htr1b	T	C	9: 81,631,510 (GRCm38)	D348G	possibly damaging	Het
Ifi205	T	C	1: 174,028,321 (GRCm38)	I48V	possibly damaging	Het
Igkv18-36	C	T	6: 69,992,591 (GRCm38)	R72K	probably damaging	Het
Kcnk7	T	C	19: 5,706,253 (GRCm38)	L169P	probably damaging	Het
Klf17	T	C	4: 117,760,536 (GRCm38)	D208G	probably benign	Het
Ltn1	A	G	16: 87,418,494 (GRCm38)	F418L	probably damaging	Het
Map4k4	G	A	1: 40,019,564 (GRCm38)	V1040I	probably damaging	Het
Mark1	A	G	1: 184,912,132 (GRCm38)	V445A	probably benign	Het
Med11	T	C	11: 70,453,196 (GRCm38)	I114T	probably benign	Het
Moxd2	A	G	6: 40,887,247 (GRCm38)	V83A	probably damaging	Het
Mrpl33	A	G	5: 31,616,358 (GRCm38)		probably benign	Het
Mrps27	A	G	13: 99,414,815 (GRCm38)		probably null	Het
Nop58	T	C	1: 59,696,026 (GRCm38)	V75A	probably benign	Het
Olfr1290	A	C	2: 111,489,744 (GRCm38)	M138R	probably benign	Het
Olfr1339	T	C	4: 118,734,655 (GRCm38)	L42P	probably damaging	Het
Olfr136	A	C	17: 38,335,840 (GRCm38)	I228L	possibly damaging	Het
Olfr325	A	G	11: 58,581,429 (GRCm38)	D195G	probably damaging	Het
Olfr832	A	G	9: 18,945,446 (GRCm38)	H266R	probably benign	Het
Olfr844	C	A	9: 19,319,147 (GRCm38)	F210L	probably benign	Het
Pdzd2	G	T	15: 12,419,516 (GRCm38)	N263K	possibly damaging	Het
Podnl1	C	A	8: 84,126,061 (GRCm38)		probably benign	Het
Prkd3	G	T	17: 78,951,937 (GRCm38)	H864N	possibly damaging	Het
Ptprd	T	C	4: 76,107,333 (GRCm38)	T543A	probably benign	Het
Pum2	T	A	12: 8,747,272 (GRCm38)	I788N	probably damaging	Het
Ralgapa1	T	A	12: 55,693,458 (GRCm38)	N1328I	probably damaging	Het
Rhoc	T	C	3: 104,794,039 (GRCm38)	L193P	probably damaging	Het
Rif1	T	C	2: 52,073,139 (GRCm38)		probably benign	Het
Rspo2	A	T	15: 43,075,904 (GRCm38)	C163*	probably null	Het
Sco1	A	G	11: 67,056,599 (GRCm38)	Y204C	probably damaging	Het
Shc2	T	C	10: 79,622,379 (GRCm38)	K490R	probably benign	Het
Siglec1	T	C	2: 131,074,436 (GRCm38)	D1198G	probably damaging	Het
Slc25a18	T	C	6: 120,786,090 (GRCm38)	V31A	probably damaging	Het
Smpd5	A	T	15: 76,295,693 (GRCm38)	I112L	probably benign	Het
Synpr	CT	C	14: 13,285,198 (GRCm38)		probably null	Het
Tdrd9	T	G	12: 112,041,689 (GRCm38)	S988A	probably benign	Het
Tiam2	T	A	17: 3,454,168 (GRCm38)	F982I	probably damaging	Het
Tmc3	G	A	7: 83,622,396 (GRCm38)	V919I	probably benign	Het
Tmem200c	A	T	17: 68,840,470 (GRCm38)	D16V	probably damaging	Het
Tmem37	A	T	1: 120,068,205 (GRCm38)	D47E	probably damaging	Het
Top3a	T	A	11: 60,742,997 (GRCm38)	R733*	probably null	Het
Treh	T	C	9: 44,683,318 (GRCm38)	V8A	probably benign	Het
Trim17	A	C	11: 58,968,450 (GRCm38)		probably benign	Het
Ubash3b	T	C	9: 41,016,600 (GRCm38)	K471E	probably damaging	Het
Usp8	T	A	2: 126,729,222 (GRCm38)	L144Q	possibly damaging	Het
Wnk2	T	A	13: 49,147,232 (GRCm38)	M1L	unknown	Het

Other mutations in Gucy1b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Gucy1b2	APN	14	62,406,245 (GRCm38)	missense	probably damaging	1.00
IGL00465:Gucy1b2	APN	14	62,403,200 (GRCm38)	missense	probably benign
IGL00756:Gucy1b2	APN	14	62,403,209 (GRCm38)	missense	probably benign
IGL01800:Gucy1b2	APN	14	62,411,655 (GRCm38)	missense	probably benign	0.03
IGL01875:Gucy1b2	APN	14	62,420,146 (GRCm38)	missense	probably damaging	1.00
IGL03033:Gucy1b2	APN	14	62,415,944 (GRCm38)	missense	probably benign	0.00
IGL03110:Gucy1b2	APN	14	62,433,834 (GRCm38)	splice site	probably benign
IGL02796:Gucy1b2	UTSW	14	62,407,694 (GRCm38)	missense	probably benign	0.42
R0183:Gucy1b2	UTSW	14	62,419,140 (GRCm38)	missense	probably damaging	1.00
R0605:Gucy1b2	UTSW	14	62,403,159 (GRCm38)	splice site	probably benign
R0815:Gucy1b2	UTSW	14	62,419,062 (GRCm38)	missense	probably benign	0.00
R0863:Gucy1b2	UTSW	14	62,419,062 (GRCm38)	missense	probably benign	0.00
R0972:Gucy1b2	UTSW	14	62,414,369 (GRCm38)	missense	possibly damaging	0.61
R0972:Gucy1b2	UTSW	14	62,408,678 (GRCm38)	missense	possibly damaging	0.88
R1438:Gucy1b2	UTSW	14	62,414,321 (GRCm38)	missense	probably damaging	0.98
R2011:Gucy1b2	UTSW	14	62,408,758 (GRCm38)	missense	probably damaging	0.99
R2409:Gucy1b2	UTSW	14	62,406,179 (GRCm38)	frame shift	probably null
R3692:Gucy1b2	UTSW	14	62,404,627 (GRCm38)	missense	probably damaging	1.00
R4484:Gucy1b2	UTSW	14	62,411,589 (GRCm38)	missense	possibly damaging	0.88
R4730:Gucy1b2	UTSW	14	62,407,759 (GRCm38)	missense	probably damaging	1.00
R4812:Gucy1b2	UTSW	14	62,415,897 (GRCm38)	splice site	probably null
R4839:Gucy1b2	UTSW	14	62,448,246 (GRCm38)	missense	probably damaging	1.00
R5261:Gucy1b2	UTSW	14	62,404,579 (GRCm38)	missense	probably damaging	1.00
R5326:Gucy1b2	UTSW	14	62,453,330 (GRCm38)	critical splice donor site	probably null
R5656:Gucy1b2	UTSW	14	62,422,981 (GRCm38)	missense	probably damaging	1.00
R5779:Gucy1b2	UTSW	14	62,414,301 (GRCm38)	missense	possibly damaging	0.82
R6000:Gucy1b2	UTSW	14	62,419,050 (GRCm38)	missense	probably benign	0.00
R6274:Gucy1b2	UTSW	14	62,415,939 (GRCm38)	missense	probably damaging	1.00
R7457:Gucy1b2	UTSW	14	62,392,952 (GRCm38)	missense	probably benign	0.08
R7487:Gucy1b2	UTSW	14	62,448,223 (GRCm38)	missense	probably damaging	0.97
R7607:Gucy1b2	UTSW	14	62,419,177 (GRCm38)	missense	probably damaging	1.00
R8030:Gucy1b2	UTSW	14	62,392,870 (GRCm38)	missense	probably benign
R8285:Gucy1b2	UTSW	14	62,420,107 (GRCm38)	missense	probably damaging	0.98
R8287:Gucy1b2	UTSW	14	62,411,816 (GRCm38)	missense	probably damaging	1.00
R8970:Gucy1b2	UTSW	14	62,419,215 (GRCm38)	missense	possibly damaging	0.95
RF030:Gucy1b2	UTSW	14	62,408,641 (GRCm38)	critical splice donor site	probably benign
RF035:Gucy1b2	UTSW	14	62,408,641 (GRCm38)	critical splice donor site	probably benign
Z1177:Gucy1b2	UTSW	14	62,453,453 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGACCTCTAGGACCACCAAG -3'
(R):5'- GGATTCATGGCTTAGATGCTCC -3'

Sequencing Primer
(F):5'- TGACCTCTAGGACCACCAAGAAAAAG -3'
(R):5'- TATGATGCCATGTTACACTGAGG -3'

Posted On

2015-10-21