Mutagenetix > Incidental Mutation

Incidental Mutation 'R1678:Sctr'

188240

Institutional Source

Beutler Lab

Gene Symbol

Sctr

Ensembl Gene

ENSMUSG00000026387

Gene Name

secretin receptor

Synonyms

6530402O03Rik

MMRRC Submission

039714-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1678 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

119934710-119991269 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 119964169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072886] [ENSMUST00000189037]

AlphaFold

Q5FWI2

Predicted Effect

probably null
Transcript: ENSMUST00000072886

SMART Domains

Protein: ENSMUSP00000072660
Gene: ENSMUSG00000026387

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	36	53	N/A	INTRINSIC
HormR	76	146	5.18e-21	SMART
Pfam:7tm_2	153	398	3.8e-88	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000189037

SMART Domains

Protein: ENSMUSP00000139932
Gene: ENSMUSG00000026387

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	36	53	N/A	INTRINSIC
HormR	61	131	2.59e-21	SMART
Pfam:7tm_2	138	383	1.9e-89	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show polydipsia, polyuria, decreased urine osmolality, higher serum glucose levels, kidney glomerular and tubular pathology, and impaired renal water reabsorption. Homozygotes for a different null allele show impaired synaptic plasticity and social behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,554,594 (GRCm39)	I120S	probably benign	Het
Abcb5	A	C	12: 118,929,064 (GRCm39)		probably benign	Het
Abcc4	T	A	14: 118,832,306 (GRCm39)	T775S	probably benign	Het
Acnat2	T	A	4: 49,380,568 (GRCm39)	Y270F	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Ankib1	A	G	5: 3,756,301 (GRCm39)	I548T	probably damaging	Het
Apbb1ip	A	T	2: 22,764,892 (GRCm39)		probably null	Het
Asb17	C	T	3: 153,550,004 (GRCm39)	S12F	probably damaging	Het
Atad2b	G	A	12: 5,015,899 (GRCm39)	V542I	possibly damaging	Het
Atxn7	T	C	14: 14,096,239 (GRCm38)	F515L	probably damaging	Het
Bicc1	A	G	10: 70,779,348 (GRCm39)	L680P	probably damaging	Het
Bpifb6	G	A	2: 153,750,562 (GRCm39)	R351H	probably damaging	Het
C4b	A	G	17: 34,962,624 (GRCm39)	F26S	probably benign	Het
Cadps	A	G	14: 12,517,802 (GRCm38)		probably null	Het
Capza1	G	T	3: 104,771,669 (GRCm39)	S9*	probably null	Het
Ccl11	C	T	11: 81,948,866 (GRCm39)	P25L	probably damaging	Het
Cdyl	A	T	13: 36,040,872 (GRCm39)	K306N	probably damaging	Het
Cnga3	T	C	1: 37,300,579 (GRCm39)	V471A	possibly damaging	Het
Col4a4	T	C	1: 82,464,380 (GRCm39)	K983E	unknown	Het
Cp	A	C	3: 20,026,881 (GRCm39)	K436N	probably damaging	Het
Csmd1	T	A	8: 15,968,252 (GRCm39)	D3125V	possibly damaging	Het
Daw1	A	T	1: 83,161,087 (GRCm39)	N143I	probably damaging	Het
Dmd	T	A	X: 84,018,368 (GRCm39)	I3067N	probably benign	Het
Dnaaf9	A	G	2: 130,656,193 (GRCm39)	V105A	probably damaging	Het
Dnah11	T	G	12: 117,897,580 (GRCm39)	N3550T	possibly damaging	Het
Dnm2	T	C	9: 21,378,828 (GRCm39)	V129A	possibly damaging	Het
Dync1h1	A	T	12: 110,632,096 (GRCm39)		probably null	Het
Dync2i1	A	G	12: 116,189,590 (GRCm39)	S640P	probably damaging	Het
Efemp1	G	A	11: 28,866,942 (GRCm39)	E325K	probably benign	Het
Enox1	A	G	14: 77,815,096 (GRCm39)	T85A	probably benign	Het
Faim2	C	A	15: 99,418,217 (GRCm39)	V123F	possibly damaging	Het
Fgfr2	T	C	7: 129,830,350 (GRCm39)		probably null	Het
Fign	T	C	2: 63,810,718 (GRCm39)	E184G	probably damaging	Het
Fnd3c2	T	C	X: 105,281,305 (GRCm39)	T799A	probably benign	Het
Frem2	T	C	3: 53,427,359 (GRCm39)	D2931G	probably damaging	Het
Fsip2	A	G	2: 82,816,689 (GRCm39)	T4141A	probably benign	Het
Gigyf2	T	A	1: 87,344,705 (GRCm39)	M546K	probably benign	Het
Gm21775	G	A	Y: 10,553,867 (GRCm39)	V139M	probably damaging	Het
Gpr83	G	T	9: 14,778,145 (GRCm39)	V172F	probably damaging	Het
Itprid1	G	T	6: 55,945,499 (GRCm39)	C740F	probably benign	Het
Jmjd4	A	G	11: 59,344,438 (GRCm39)	Y179C	probably damaging	Het
Kcnq3	A	G	15: 65,903,281 (GRCm39)	L143P	probably damaging	Het
Klhl41	T	C	2: 69,501,283 (GRCm39)	V248A	probably benign	Het
Lama1	T	C	17: 68,117,150 (GRCm39)	Y2482H	possibly damaging	Het
Lamb2	A	T	9: 108,360,885 (GRCm39)		probably null	Het
Lclat1	G	A	17: 73,503,715 (GRCm39)	G162R	probably damaging	Het
Map6	T	C	7: 98,917,305 (GRCm39)	V26A	probably damaging	Het
Mdn1	A	T	4: 32,663,050 (GRCm39)	D107V	probably damaging	Het
Metap1d	T	A	2: 71,355,121 (GRCm39)	V304D	possibly damaging	Het
Naca	A	G	10: 127,879,395 (GRCm39)		probably benign	Het
Napg	T	C	18: 63,117,143 (GRCm39)		probably null	Het
Nbeal1	T	A	1: 60,299,493 (GRCm39)	F7L	probably benign	Het
Ndst2	T	C	14: 20,774,582 (GRCm39)	T825A	probably benign	Het
Nsun2	T	C	13: 69,775,222 (GRCm39)	I353T	probably damaging	Het
Nt5c3b	T	A	11: 100,327,036 (GRCm39)	I87F	probably damaging	Het
Nxf3	T	C	X: 134,976,270 (GRCm39)	D407G	probably damaging	Het
Or51f2	T	A	7: 102,526,870 (GRCm39)	V181E	probably damaging	Het
Or8c13	A	T	9: 38,091,933 (GRCm39)	F62Y	possibly damaging	Het
Osbpl3	A	C	6: 50,313,193 (GRCm39)		probably null	Het
P2rx3	T	C	2: 84,852,811 (GRCm39)	T172A	possibly damaging	Het
Pcdh10	G	T	3: 45,336,316 (GRCm39)	E877*	probably null	Het
Pcdhb9	A	T	18: 37,534,682 (GRCm39)	K225N	probably damaging	Het
Plch1	A	G	3: 63,648,115 (GRCm39)	S419P	probably damaging	Het
Prex2	T	G	1: 11,355,313 (GRCm39)	I1538S	possibly damaging	Het
Prss59	C	A	6: 40,906,453 (GRCm39)		probably benign	Het
Rasl10a	A	G	11: 5,009,815 (GRCm39)	E121G	possibly damaging	Het
Rbbp8	A	G	18: 11,865,372 (GRCm39)	T754A	probably benign	Het
Rictor	T	C	15: 6,785,952 (GRCm39)	V156A	probably benign	Het
Ryr1	A	T	7: 28,815,579 (GRCm39)	Y104N	probably damaging	Het
Sptbn2	T	C	19: 4,800,525 (GRCm39)	Y2247H	probably damaging	Het
Sqle	C	T	15: 59,196,358 (GRCm39)	R384W	probably damaging	Het
Srcin1	C	A	11: 97,409,470 (GRCm39)	R1163L	probably damaging	Het
Srp72	A	G	5: 77,128,154 (GRCm39)	Y125C	probably damaging	Het
Srrm2	T	C	17: 24,037,960 (GRCm39)	S1535P	probably benign	Het
Sumf2	A	G	5: 129,883,557 (GRCm39)	E125G	possibly damaging	Het
Tas2r144	A	T	6: 42,192,490 (GRCm39)	I77F	probably benign	Het
Tcerg1	T	C	18: 42,657,414 (GRCm39)	S299P	unknown	Het
Tcp1	T	A	17: 13,139,310 (GRCm39)	N212K	probably benign	Het
Ttc7	G	T	17: 87,669,329 (GRCm39)	G659C	probably damaging	Het
Ttn	A	T	2: 76,691,903 (GRCm39)		probably null	Het
Ubtf	A	T	11: 102,199,804 (GRCm39)	D440E	probably benign	Het
Usp30	A	G	5: 114,259,207 (GRCm39)	D428G	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r58	G	A	7: 41,513,480 (GRCm39)	H388Y	probably benign	Het
Zbtb49	T	C	5: 38,371,038 (GRCm39)	D281G	probably damaging	Het
Zfp248	A	G	6: 118,406,765 (GRCm39)	S174P	probably benign	Het
Zswim9	T	C	7: 13,011,337 (GRCm39)	T4A	probably benign	Het

Other mutations in Sctr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Sctr	APN	1	119,972,450 (GRCm39)	missense	probably damaging	1.00
IGL01542:Sctr	APN	1	119,972,499 (GRCm39)	splice site	probably benign
IGL02798:Sctr	APN	1	119,949,910 (GRCm39)	missense	probably damaging	1.00
IGL02850:Sctr	APN	1	119,949,909 (GRCm39)	missense	probably damaging	1.00
IGL02850:Sctr	APN	1	119,972,393 (GRCm39)	missense	possibly damaging	0.95
IGL03256:Sctr	APN	1	119,959,289 (GRCm39)	splice site	probably benign
PIT4677001:Sctr	UTSW	1	119,989,634 (GRCm39)	missense	probably damaging	1.00
R0018:Sctr	UTSW	1	119,971,286 (GRCm39)	splice site	probably benign
R0166:Sctr	UTSW	1	119,983,124 (GRCm39)	missense	probably damaging	0.97
R1728:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1728:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1729:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1729:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1729:Sctr	UTSW	1	119,990,976 (GRCm39)	missense	probably benign	0.16
R1730:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1730:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1739:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1739:Sctr	UTSW	1	119,990,976 (GRCm39)	missense	probably benign	0.16
R1739:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1762:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1762:Sctr	UTSW	1	119,990,976 (GRCm39)	missense	probably benign	0.16
R1762:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1783:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1785:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1785:Sctr	UTSW	1	119,990,976 (GRCm39)	missense	probably benign	0.16
R1785:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R2116:Sctr	UTSW	1	119,959,312 (GRCm39)	missense	probably damaging	1.00
R5522:Sctr	UTSW	1	119,964,146 (GRCm39)	missense	probably benign	0.10
R5776:Sctr	UTSW	1	119,984,137 (GRCm39)	missense	probably damaging	1.00
R5781:Sctr	UTSW	1	119,959,350 (GRCm39)	missense	probably damaging	0.99
R6333:Sctr	UTSW	1	119,984,182 (GRCm39)	missense	probably damaging	1.00
R7084:Sctr	UTSW	1	119,991,001 (GRCm39)	missense	possibly damaging	0.77
R7263:Sctr	UTSW	1	119,949,955 (GRCm39)	missense	probably benign
R7265:Sctr	UTSW	1	119,949,955 (GRCm39)	missense	probably benign
R7266:Sctr	UTSW	1	119,949,955 (GRCm39)	missense	probably benign
R7304:Sctr	UTSW	1	119,949,970 (GRCm39)	missense	probably damaging	1.00
R7343:Sctr	UTSW	1	119,949,955 (GRCm39)	missense	probably benign
R8063:Sctr	UTSW	1	119,991,005 (GRCm39)	missense	probably benign	0.09
R8914:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R9146:Sctr	UTSW	1	119,982,010 (GRCm39)	missense	probably damaging	1.00
R9391:Sctr	UTSW	1	119,983,178 (GRCm39)	missense	probably benign	0.00
R9495:Sctr	UTSW	1	119,959,403 (GRCm39)	critical splice donor site	probably null
X0067:Sctr	UTSW	1	119,935,029 (GRCm39)	missense	probably benign
Z1088:Sctr	UTSW	1	119,964,136 (GRCm39)	frame shift	probably null
Z1176:Sctr	UTSW	1	119,949,979 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAGTCAAGTCCTCTGCATCCACC -3'
(R):5'- ACAAACCTTGTGTTCTGTGCTCCAC -3'

Sequencing Primer
(F):5'- ccaaccctcttcctccatttac -3'
(R):5'- GTGCTCCACTCCCTGTGAG -3'

Posted On

2014-05-09